Diagn Pathol [JOURNAL]
Sun
200 papers
Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.
Lyu Z, Liu Y, Chen J … +8 more , Wang P, Lu Z, Chang X, Chen X, Ma H, Mo S, Yu S, Chen J
Diagn Pathol · 2025 Apr · PMID 40301978 · Full text
BACKGROUND: Sertoli-Leydig cell tumors (SLCTs) are a rare group of sex cord-stromal tumors that account for less than 0.5% of all ovarian tumors. This study aims to compare the pathological and clinical characteristics o...
BACKGROUND: Sertoli-Leydig cell tumors (SLCTs) are a rare group of sex cord-stromal tumors that account for less than 0.5% of all ovarian tumors. This study aims to compare the pathological and clinical characteristics of SLCTs with and without DICER1 hotspot mutations, highlighting the impact of these genetic variations on clinical manifestation, prognosis, and pathological morphology. METHODS: A retrospective analysis was conducted on 50 SLCTs. DICER1 RNase IIIb hotspot mutations were detected by the Sanger sequence. Clinical information, such as patients' symptoms, tumor staging, prognosis, and pathological features, such as tumor differentiation and growth patterns, were collected. RESULTS: DICER1 mutation only appears in the intermediate/poorly differentiated SLCTs (35.7%), while none in the well-differentiated SLCTs. The patients with DICER1 mutation had a younger age of onset (17, 15-25) compared to the wild-type group (42, 27-58). Regarding pathological morphology, the mutant group showed a higher probability of having retiform components (40.0%) and cords or ribbon-like arrangement (33.3%). Besides, they exhibited mucinous edematous stroma (80.0%) and hemorrhage (80.0%) more frequently than the wild-type group. The mutant tumor had more mitotic figures. (11/10HPF), higher Ki-67 index (16.1%), and more CD20-positive cell infiltration. Patients of the mutant group were more likely to experience recurrence, and their tumors were more prone to rupture. CONCLUSIONS: This study demonstrates that DICER1-mutant and wildtype SLCTs have marked differences in pathological morphology and clinical manifestation. DICER1-mutatant SLCTs display worse prognosis, higher proliferative activity, and potentially more active immune microenvironments, which underscores the importance of genetic testing in diagnosing and assessing the prognosis of SLCTs.
Clinical analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series.
Zhu N, Gao Y, Pan Y … +7 more , Song L, Yang Y, Yin Y, Wang Y, Zhang L, Wu S, Yu G
Diagn Pathol · 2025 Apr · PMID 40287759 · Full text
This study aimed to investigate the clinical features and potential pathogenesis of lymphoma complicated with malignant solid tumors. Clinical data from 35 patients treated at Yantai Yuhuangding Hospital between January...
This study aimed to investigate the clinical features and potential pathogenesis of lymphoma complicated with malignant solid tumors. Clinical data from 35 patients treated at Yantai Yuhuangding Hospital between January 2018 and March 2023 were retrospectively analyzed. Among 1726 lymphoma patients, 35 (2.03%) were found to have solid tumors, including 22 males and 13 females, with a median age of 62 years (range: 49-83 years). The lymphoma subtypes included 14 cases of diffuse large B-cell lymphoma (DLBCL), 8 cases of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), 7 cases of marginal zone lymphoma (MZL), 3 cases of peripheral T-cell lymphoma (PTCL), 2 cases of follicular lymphoma (FL), and 1 case of Waldenström macroglobulinemia (WM). The solid tumors included 9 cases of papillary thyroid carcinoma (PTC), 8 cases of colorectal cancer (CRC), 7 cases of lung cancer (LC), 5 cases of gastric cancer (GC), 2 cases of prostate cancer (PCa), and 1 case each of breast cancer (BC), clear cell renal cell carcinoma (ccRCC), pharyngeal squamous cell carcinoma (PSCC), and bladder cancer (BLCA). Lymphoma with solid tumors is rare, often affecting elderly males. Non-Hodgkin's lymphoma, especially DLBCL, was the most common subtype, and PTC was the most frequent solid tumor. Clinicians should focus on these cases to improve diagnosis and treatment.
Acute fibrinous and organising pneumonia presenting with mass-like imaging: a case report.
Zhou W, Zhang L, Xu B … +1 more , Wang C
Diagn Pathol · 2025 Apr · PMID 40287744 · Full text
OBJECTIVE: This case report describes a patient with acute fibrinous and organising pneumonia (AFOP) presenting with mass-like imaging on chest computed tomography (CT), aiming to enhance clinical awareness of this rare...
OBJECTIVE: This case report describes a patient with acute fibrinous and organising pneumonia (AFOP) presenting with mass-like imaging on chest computed tomography (CT), aiming to enhance clinical awareness of this rare disease. CASE PRESENTATION: A 66-year-old man presented with cough, sputum, chest tightness and weight loss persisting for 1 month. Chest X-ray revealed a space-occupying lesion in the left lung. Further CT imaging demonstrated irregular soft tissue masses in both the upper and lower lobes of the left lung. Although the imaging findings suggested lung cancer, the final pathological diagnosis confirmed AFOP. The patient was treated with methylprednisolone, resulting in substantial improvement of the upper lobe lesion, whereas the lower lobe lesion showed minimal response. Following the addition of mycophenolate mofetil, the lower lobe lesion decreased substantially. Multiple lung biopsies confirmed the diagnosis of AFOP, with no evidence of a malignant tumour. CONCLUSIONS: Acute fibrinous and organising pneumonia presents with non-specific imaging findings, and when manifesting as a mass-like lesion, it may be misdiagnosed as lung cancer. Pathological examination remains essential for diagnosis. Close monitoring of the clinical response is crucial during treatment, and the treatment plan should be tailored to individual patient needs.
Molecular subtyping of endometrial cancer via a simplified one-step NGS classifier, ARID1A and ZFHX4 mutations help further subclassify CNL/MSI-H patients.
Teng Q, Yuan Z, Mu Y … +8 more , Ma X, Wang S, Sun C, Chin L, Huang Z, Zhu C, Yin A, Dong R
Diagn Pathol · 2025 Apr · PMID 40281612 · Full text
BACKGROUND: Molecular subtyping has changed the prognostic stratification and therapeutic guidance for patients with endometrial cancer (EC). However, simultaneous application of sanger sequencing and immunohistochemistr...
BACKGROUND: Molecular subtyping has changed the prognostic stratification and therapeutic guidance for patients with endometrial cancer (EC). However, simultaneous application of sanger sequencing and immunohistochemistry under ProMisE criteria may be time- and tissue-consuming. This study attempted to measure subtype-specific biomarkers by one-step next-generation sequencing (NGS) resulting in a shorter turnaround time and less requirement of tissue samples. METHODS: FFPE samples from 233 EC patients were retrospectively collected. Overall survival (OS) information was available for 131 patients with a median follow-up of 66 months. Genomic DNA was extracted and subjected to a one-step NGS panel including TP53, POLE and MSI measurement. Further comprehensive genomic analyses were performed on DNA from MSI-H and copy number low (CNL) subtypes. RESULTS: The molecular typing ratio of the 233 patients was 8.15% for POLE subtype, 18.88% for MSI-H subtype, 11.59% for copy number high (CNH) subtype and 61.37% for CNL subtype. The 10-year OS and disease-specific survival (DSS) rate was 100% in POLE subtype, while only 33.51% and 39.69% in CNH subtype. In patients with CNL and CNL/MSI-H subtypes, ARID1A and ZFHX4 mutations were significantly associated with worse prognosis respectively. CONCLUSION: This simplified one-step NGS panel can effectively subgroup EC patients into four prognostically different subtypes. New biomarkers are able to potentially refine the classification of patients with CNL/MSI-H subtypes into groups with distinct clinical outcomes.
Gastric SMARCA4-deficient undifferentiated tumors: clinicopathological analysis of two cases in a single center.
Cheng X, Chen S, Jiang X … +4 more , Li T, Zhang H, Huang F, Bao T
Diagn Pathol · 2025 Apr · PMID 40275321 · Full text
OBJECTIVES: Gastric SMARCA4-deficient undifferentiated tumors are rare and have a poor prognosis. We analyzed two cases of gastric SMARCA4-deficient undifferentiated tumors with clinicopathologic characteristics, treatme...
OBJECTIVES: Gastric SMARCA4-deficient undifferentiated tumors are rare and have a poor prognosis. We analyzed two cases of gastric SMARCA4-deficient undifferentiated tumors with clinicopathologic characteristics, treatment and flow-up. METHODS: Immunohistochemistry was used to evaluate the expression of BRG1 (SAMRCA4), SMARCB1 (INI-1), CKpan, Ki-67, CD3, CD20, CD163, PD-1, and PD-L1 in gastric SMARCA4-deficient undifferentiated tumors. Additionally, the clinical characteristics, imaging features, diagnosis, and treatment were analyzed. RESULTS: Two elderly male patients (69 and 61 years old) with a large ulcerated mass located in the gastric fundus and cardia. Histologically, the tumor is of low adhesion, diffusely infiltrating lamellar growth, without any percentage of epithelial differentiation zones, and with little stromal component. Tumor cells round, oval, a small amount of irregular shape, easy to see mitotic figures. Some of them had obvious nucleoli, and a few had multiple nucleoli. The cytoplasm varies, and some cells are more abundant. Significant vascular and neural invasion. BRG1(SMARCA4) was absent, INI-1 was present, and Ki-67 proliferation index was highly expressed (≥ 80%). The remaining sarcoma-specific markers were negative. In case 1, the epithelial markers were negative and the PD-L1 combined positive score was 5. In case 2, CKpan was weakly expressed in only a dozen cells, and the PDL1 CPS was 10. The two patients received chemotherapy and anti-PD1 immunotherapy after radical gastrectomy for gastric cancer. The postoperative follow-up time of the two patients was 16 (case 1) and 3 months (case 2), respectively. The general condition was good, no recurrence or metastasis was observed, and the plasma tumor markers were in the normal range. CONCLUSIONS: Large SMARCA4-deficient tumors are more likely to have massive necrosis on the surface, leading to negative biopsy results. This tumor has a diffuse lamellar growth and needs to be differentiated from a variety of tumors with similar morphology, such as lymphoma, malignant melanoma, neuroendocrine carcinoma and undifferentiated sarcoma. The tumor cells were negative or only slightly positive for CKpan increases the difficulty of pathological diagnosis of this disease. However, loss of BRG1 (SMARCA4) expression can confirm the diagnosis. Chemotherapy combined with anti-PD1 treatment may have potential benefits in the management of gastric SMARCA4-deficient undifferentiated tumors. However, given the rarity of these tumors and the limited number of cases in our study, further research with larger cohorts is needed to validate these preliminary results.
Exploration of risk factors for the occurrence and recurrence of papillary thyroid carcinoma with Hashimoto's thyroiditis based on next-generation sequencing.
Zhang W, Liu B
Diagn Pathol · 2025 Apr · PMID 40269951 · Full text
OBJECTIVES: To investigate the risk factors for the occurrence and recurrence of Hashimoto's thyroiditis (HT) combined with papillary thyroid carcinoma (PTC) using Next-Generation Sequencing (NGS). METHODS: A total of 24...
OBJECTIVES: To investigate the risk factors for the occurrence and recurrence of Hashimoto's thyroiditis (HT) combined with papillary thyroid carcinoma (PTC) using Next-Generation Sequencing (NGS). METHODS: A total of 249 patients who underwent thyroid cancer surgery at the First Affiliated Hospital of Anhui Medical University from October 2020 to December 2020 were included in this study. They were divided into two groups: HT and non-HT (NHT) groups based on whether they were diagnosed with HT or not. Clinical data, NGS results, and 4-year follow-up recurrence were collected and analyzed using binary logistic regression and COX regression analysis to identify factors influencing the occurrence and recurrence of PTC with HT. RESULTS: Patients in the HT group had a higher percentage of low age, multifocality, high TgAb, and RET rearrangement compared to the NHT group. However, they had a lower rate of extrathyroidal extension (ETE), lymph node metastasis (LNM), and BRAF mutation (P < 0.05). Among patients with RET rearrangement in the HT group, there was a higher rate of LNM and recurrence (P < 0.05). Patients with BRAF mutation in the HT group were more likely to be male and have multifocal tumors (P < 0.05). Binary logistic regression analysis showed that multifocality, RET rearrangement, low age, and lymph node negativity were risk factors for HT combined with PTC. Univariate COX analysis revealed that multifocality, LNM, ETE, recurrence risk stratification, TSH, RET rearrangement, and the interaction between RET rearrangement and Hashimoto's effect were risk factors for recurrence after PTC. Multifactorial COX regression analysis showed that ETE and recurrence risk stratification were risk factors for recurrence after PTC surgery. CONCLUSIONS: Multifocality, high TgAb, low age, and lymph node negativity can assist in the preoperative diagnosis of HT combined with PTC. BRAF mutations are less common in HT combined with PTC but do not significantly affect recurrence. Patients with RET rearrangement in addition to HT have a higher risk of recurrence, and special attention should be paid to intraoperative clearance in these patients.
High B7-H3 protein expression in Medulloblastoma is associated with metastasis and unfavorable patient outcomes.
Fontão P, Teixeira GR, Moreno DA … +6 more , Marques RF, Stavale JN, Malheiros SMF, Júnior CA, Mançano BM, Reis RM
Diagn Pathol · 2025 Apr · PMID 40269882 · Full text
BACKGROUND: Medulloblastoma (MB) is the most common malignant brain tumor in children. Although the 5-year survival rate is approximately 70-80%, the current standard treatment results in severe and long-term side effect...
BACKGROUND: Medulloblastoma (MB) is the most common malignant brain tumor in children. Although the 5-year survival rate is approximately 70-80%, the current standard treatment results in severe and long-term side effects. The search for new anticancer immunotherapeutic targets has identified B7-H3 as a promising candidate in various solid tumors. However, the role of B7-H3 in MB remains unclear, and studies reporting its protein expression and association with clinicopathological characteristics are still limited. METHODS: In this study, B7-H3 protein expression was evaluated by immunohistochemistry in seven non-tumor samples and 43 molecularly characterized MB tissues. Its expression profile was correlated with B7-H3 (CD276) mRNA levels, which were previously determined by nCounter, as well as with the patients' clinical features. RESULTS: Only 14.3% (1/7) of non-tumor brain and cerebellum tissues showed B7-H3 positivity, whereas 95.6% (41/43) of the MB samples expressed this protein at distinct levels. B7-H3 was found in the cytoplasm and on the membrane of cancer cells. A significant positive correlation was observed between CD276 mRNA and B7-H3 protein levels. Moreover, high expression of B7-H3 protein was associated with worse overall survival and the presence of metastasis at diagnosis. CONCLUSIONS: This is the first study to associate CD276 mRNA and B7-H3 protein levels in MB, revealing a significant positive correlation. We observed that B7-H3 was overexpressed in MB compared to non-tumor brain tissue. High B7-H3 expression was associated with a worse outcome and with the presence of metastasis at diagnosis.
At the crossroad between Ewing sarcoma and neuroblastoma: a report of two cases of Ewing sarcoma with post treatment neuroblastoma-like differentiation.
Arcovito G, Aringhieri G, Zampa V … +3 more , Coccoli L, Andreani L, Franchi A
Diagn Pathol · 2025 Apr · PMID 40269875 · Full text
BACKGROUND: Ewing sarcoma (ES) is the second most frequent sarcoma of bone, often affecting young patients and pursuing an aggressive clinical course. Among therapeutic choices, radio- and chemotherapy are employed in ne...
BACKGROUND: Ewing sarcoma (ES) is the second most frequent sarcoma of bone, often affecting young patients and pursuing an aggressive clinical course. Among therapeutic choices, radio- and chemotherapy are employed in neoadjuvant setting, and they yield variable histological changes in neoplastic tissue, which mainly include necrosis and fibrosis. Cytodifferentiation is seldom observed in pediatric tumors such as nephroblastoma and rhabdomyosarcoma following treatment. Nevertheless, it represents an extremely rare phenomenon in ES. CASE PRESENTATION: In this study we present the clinico-pathologic and molecular features of two cases of ES undergoing neuroblastoma-like differentiation after treatment. Both tumors were primarily located in bone and presented the histologic and immunohistochemical features of classic ES in needle biopsies. They were treated with standard chemotherapy protocols followed by surgical resection. The resection specimens of the primary tumor of patient 1 and pleural metastases of patient 2 presented foci of eosinophilic fibrillary stroma resembling neuropil and containing cellular elements with wide granular eosinophilic cytoplasm, eccentric nuclei containing vesicular chromatin and prominent nucleoli, reminiscent of ganglion cells. These cells were positive for chromogranin, synaptophysin and CD56, while CD99 was negative. Molecular confirmation of EWSR1 rearrangement was provided in both cases by next generation sequencing and FISH analysis. CONCLUSIONS: Evidence of neural differentiation in ES unravels interesting hints about its controversial histogenesis. Furthermore, awareness of this event must be increased to avoid misdiagnosis with neuroblastoma, which shows significant morphological overlap.
Family adenomatous polyposis come across dome type adenocarcinoma: a case report and literature review.
Chang YY, Zhang XL, Wang YH … +1 more , Ling TS
Diagn Pathol · 2025 Apr · PMID 40247408 · Full text
Dome-type carcinoma (DC), also referred as Gut-associated lymphoid tissue (GALT) carcinoma, is a rare variant of colorectal adenocarcinoma which has been seldomly reported up to now. We report a case of a DC lesion devel...
Dome-type carcinoma (DC), also referred as Gut-associated lymphoid tissue (GALT) carcinoma, is a rare variant of colorectal adenocarcinoma which has been seldomly reported up to now. We report a case of a DC lesion developed in a 33-year-old male diagnosed with family adenomatous polyposis (FAP). A 1.5 × 1.5 cm well-demarcated lesion exhibited a 0-Is + IIc figure was detected near the anastomotic stoma during regular colonoscopic polypectomy. Surgical specimen showed well-differentiated adenocarcinoma consisted of dilated cystic glands and the lymphoid stroma with reactive germinal centers exhibited a destructive manner of infiltration into SM2 level. The immunohistochemical findings revealed MUC1 positive but MUC2 negative of the carcinomas epithelial which retained all the 4 mismatch repair proteins (MMRs) (MLH1, PMS2, MSH2, and MSH6) and was negative for EBV-encoded small RNA-1 (EBER). Considered a rare category of colorectal adenocarcinoma, more cases will help uncover the nature of GALT/dome-type carcinoma. Clinicians and pathologists should be aware of recognizing this special type of carcinoma and making necessary differential diagnostics.
Multiple pulmonary mucinous cystadenoma with Ovarian-like stroma: a case report.
Wang L, Wumener X, Huang W
Diagn Pathol · 2025 Apr · PMID 40241216 · Full text
BACKGROUND: Pulmonary mucinous cystadenoma with ovarian-like stroma has rarely been reported. To the best of our knowledge, only two prior cases have been reported to date. CASE PRESENTATION: A 47-year-old female underwe...
BACKGROUND: Pulmonary mucinous cystadenoma with ovarian-like stroma has rarely been reported. To the best of our knowledge, only two prior cases have been reported to date. CASE PRESENTATION: A 47-year-old female underwent an F-fluorodeoxyglucose(FDG) positron emission tomography/computed tomography(PET/CT) scan, revealig multiple solid and cystic nodules with mild FDG uptake in both lungs. The tumor exhibited an adenoid or papillary structure, covered by monolayer mucous columnar epithelium and pseudostratified ciliated columnar epithelium, with abundant mesenchymal cells. Nuclei were oval, fusiform, or polygonal, resembling ovarian-like stroma, and showed mild nuclear atypia without atypical mitoses. Immunohistochemical analysis indicated: CK (epithelial cell +), P63 (epithelial basal cells +), CK7 (epithelial cell +), CK20 (-), TTF-1 (epithelial cell +), napsin A (partial epithelial cell +), α-inhibin (-), S100 (-), SMA (-), EMA (epithelial cell +), CEA (-), WT-1 (mesenchymal cells +), ER (mesenchymal cells +), P16 (partial mesenchymal cells +), CD10 (mesenchymal cells +), and Ki-67 (2% +). CONCLUSION: Pulmonary mucinous cystadenoma with ovarian-like stroma is rare, and its pathological nature and classification are not yet fully understood.
A case of phosphoglyceride crystal deposition disease in the maxilla.
Saitou E, Sano T, Seki M … +3 more , Yamaguchi T, Oyama T, Yokoo S
Diagn Pathol · 2025 Apr · PMID 40241191 · Full text
BACKGROUND: Phosphoglyceride crystal deposition disease (PCDD) is a rare disorder in which phosphoglyceride crystals accumulate in soft tissues and bones. It tends to occur years after surgery, trauma, or repeated inject...
BACKGROUND: Phosphoglyceride crystal deposition disease (PCDD) is a rare disorder in which phosphoglyceride crystals accumulate in soft tissues and bones. It tends to occur years after surgery, trauma, or repeated injections. CASE PRESENTATION: An 81-year-old woman was referred to our department because of swelling of the left maxillary gingiva. The left maxillary second molar had been extracted more than 10 years earlier. Surgical biopsy was performed, and histopathological findings indicated a foreign body granuloma. The patient underwent tumorectomy, during which we found a yellowish tumor. The pathologic findings were the characteristic crystal deposition, fibril-like crystals, and giant cells around the crystals. Gold hydroxamic acid staining revealed positivity for the crystals. The final pathological diagnosis was PCDD. The patient had no further symptoms and no disease recurrence. CONCLUSIONS: It is relatively easy to diagnose PCDD from the characteristic histopathological findings; however, it may be overlooked by pathologists who are unaware of the disease. T2-weighted magnetic resonance imaging of PCDD in the jawbone has depicted low intensity, a finding that differs from those of ordinary cancers and odontogenic tumors. The oral cavity often undergoes surgical procedures, and PCDD may form, and grow.
The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma.
Agustina H, Ayni TN, Azhar Y … +2 more , Soeriadi EA, Hernowo BS
Diagn Pathol · 2025 Apr · PMID 40241101 · Full text
BACKGROUND: Differentiated thyroid carcinoma (DTC) generally has a favourable prognosis with standard treatments; however, the risks of local recurrence and distant metastases remain a concern, affecting a substantial pr...
BACKGROUND: Differentiated thyroid carcinoma (DTC) generally has a favourable prognosis with standard treatments; however, the risks of local recurrence and distant metastases remain a concern, affecting a substantial proportion of patients. Radioactive iodine (RAI) refractoriness further complicates DTC management, leading to substantially reduced survival rates. In this study, we aimed to identify anexelekto (AXL) expression and TERT promoter mutation as potential predictors of RAI-refractory DTC. METHODS: We conducted a retrospective analysis of 81 DTC patients who underwent thyroidectomy and received at least two courses of RAI therapy. After a median follow-up period of 30 months (range: 6-60 months), therapy response was categorized as nonrefractory or refractory. AXL expression and TERT promoter mutation were evaluated in all patients to discern any associations with the development of RAI refractoriness. RESULTS: The overall prevalence of refractory RAI in DTC patients was 44.4% (36/81). AXL expression was high in 30/36 patients (83.3%) with RAI-refractory DTC and negative/low in 24/45 patients (53.3%) with non-RAI-refractory DTC (OR adjusted: 44.98, CI 95%: 1.41-1439.03, p = 0.031). TERT promoter mutation occurred in 21/36 (58.3%) RAI-refractory DTCs and in 2/45 (4.4%) non-RAI-refractory DTCs (OR adjusted: 10.95, CI 95%: 1.06-112.92, p = 0.044). Despite similar age, sex, and histological type distributions between the RAI-refractory and non-RAI-refractory groups, significant differences in clinicopathological characteristics emerged. Multivariate analysis confirmed that aggressive subtype, elevated AXL expression, and TERT promoter mutation independently correlated with RAI-refractory status. CONCLUSIONS: Our predictive model highlights the association of elevated AXL expression, TERT promoter mutation, and an aggressive tumour subtype with the risk of RAI refractoriness. This information has the potential to aid in making informed treatment decisions. Furthermore, AXL is a potential therapeutic target for RAI-refractory disease.
Redefining therapeutic landscapes: clinicopathological insights into low and ultra-low HER2 expression in male breast cancer.
Shang J, Miao J, Niu S … +2 more , Sun X, Liu Y
Diagn Pathol · 2025 Apr · PMID 40234892 · Full text
OBJECTIVE: With the emergence of new antibody coupled drugs, the treatment decisions of patients with low and ultra-low HER2 expression have been reshaped. However, the epidemiological characteristics of relatively rare...
OBJECTIVE: With the emergence of new antibody coupled drugs, the treatment decisions of patients with low and ultra-low HER2 expression have been reshaped. However, the epidemiological characteristics of relatively rare male breast cancer are still unclear. This study discusses the clinicopathological and immunophenotypic characteristics of male invasive breast cancer with low and ultra-low HER2 expression. METHODS: The clinicopathological and immunophenotypic features of 106 cases of male invasive breast cancer were retrospectively analyzed. HER2 was evaluated according to ASCO/CAP guidelines. The cutoff value of HER2 positive cell staining was > 10%. HER2 negative cases were divided into HER2 low expression (IHC = 1+/2 + and ISH without amplification) and HER2-0 (IHC-0, HER2 null and < 10% weak staining of cell membrane). The clinicopathological characteristics and prognosis of the cases were collected. RESULTS: 106 male patients with invasive breast cancer from 2015 to 2024 were included in this study, and more than 85% of male breast cancer histological types were invasive ductal carcinoma. Immunophenotype: There were 23 cases of HER2-zero (including 13 cases of HER2 ultra-low), 72 cases of HER2 low, 11 cases of HER2 positive, and the HER2 positive rate was 10.38%, and the incidence of low expression was 67.93%; The incidence of HER2 low in male breast cancer was significantly higher than that in female breast cancer, and the difference was statistically significant (P < 0.05). In terms of prognosis, there was no statistical difference between HER2 low male breast cancer and female breast cancer (P > 0.05). There was no statistical difference in survival prognosis between different HER2 status in the male breast cancer cohort. CONCLUSION: Male invasive breast cancer is rare, and it is more common in the elderly over 60 years old. The positive rate of ER and PR is high, and the incidence of HER2 low is high. The high HER2 low expression rate of male breast cancer can provide a new anti-HER2 treatment decision.
Revisiting the use of CK7 and CK20 immunohistochemical stains in pathological diagnoses.
Wang B, Cardona DM, Huang J
Diagn Pathol · 2025 Apr · PMID 40217517 · Full text
BACKGROUND: Cytokeratin-7 (keratin-7; CK7) and cytokeratin-20 (keratin-20; CK20) have been among the most widely used markers in pathology for prediction of tumor site of origin or classification. However, with the incre...
BACKGROUND: Cytokeratin-7 (keratin-7; CK7) and cytokeratin-20 (keratin-20; CK20) have been among the most widely used markers in pathology for prediction of tumor site of origin or classification. However, with the increased availability of newer and more specific biomarkers and molecular techniques, it is timely to revisit the utility of CK7 and CK20 stains under different clinical settings. METHODS: In the current study, we retrospectively reviewed 612 surgical pathology cases at our institution where CK7 and/or CK20 stains were performed and determined to what degree they contributed to the final diagnosis. RESULTS: In CK7-and-CK20 cases, the stains had a major contribution in 5% of the cases. In CK7-only or CK20-only cases, the percentages of major contribution were 34% and 69% respectively. However, when only cases where CK7/CK20 stains were used to determine tumor site of origin, the contributions become more comparable across all three case types, where CK7/CK20 stains had major contribution in < 10% of cases. Notably, 11% of CK7-and-CK20 cases had no specific or suggestive diagnosis, and 40% of CK7-and-CK20 cases had staining patterns inconsistent with the final diagnosis. Detailed analysis demonstrates that CK7 and CK20 stains, used singly, are most useful in the diagnosis of a limited number of pathologic entities with distinct CK7 or CK20 expression patterns. CONCLUSIONS: Our results suggest that the coordinate expression of CK7 and CK20 is generally not helpful in arriving at the final diagnosis. Reducing unnecessary immunohistochemical stains will help mitigate the rising healthcare cost and preserve tissue for molecular testing.
A collaborative immunohistochemical study of Drp1 and cortactin in the epithelial dysplasia and oral squamous cell carcinoma.
Nader M, Soliman S, Yussif SM … +1 more , El-Sissi AA
Diagn Pathol · 2025 Apr · PMID 40217339 · Full text
OBJECTIVES: Oral squamous cell carcinoma (OSCC) accounts for more than 90% of oral malignancies. The poorly understood molecular and cellular mechanisms underlying the pathogenesis of OSCC remain a subject of paramount i...
OBJECTIVES: Oral squamous cell carcinoma (OSCC) accounts for more than 90% of oral malignancies. The poorly understood molecular and cellular mechanisms underlying the pathogenesis of OSCC remain a subject of paramount importance. For epithelial dysplasia, invasion, and metastasis to occur, tumor cells require energy obtained from the mitochondria and phenotypic cellular changes in the actin cytoskeleton. Dynamin-related protein1 (Drp1) is one of the main mitochondrial proteins regulating the mitochondrial dynamics. Cortactin is an actin-binding protein that promotes the actin polymerization and rearrangement. The interplay between both proteins in OSCC remains elusive. The current study aimed to investigate the immunohistochemical (IHC) expression of Drp1 and cortactin in tissues revealing propagating OSCC cases. METHODS: The retrospective study was carried out on 35 formalin-fixed paraffin sections of nodal metastasizing OSCC cases selected from the Oncology Centre, Faculty of Medicine, Mansoura University archives from 2018 to 2023. Immunohistochemistry for Drp1 and cortactin was done. The immune reactivity of both proteins was evaluated using computer-assisted digital image analysis. Statistical analysis was performed to identify significant differences and correlations between both markers in tissues associated with progressing OSCC cases using Chi-Square, Monte Carlo, One-Way ANOVA, and Spearman tests. The p-value less than 0.05 was considered statistically significant. RESULTS: Drp1 expression was statistically significant to grades of primary OSCC (p = 0.015), while insignificant to grades of epithelial dysplasia (p = 0.123) and metastatic lymph nodes (LNs) (p = 0.212). Statistically significant differences between dysplastic epithelium & primary tumor, dysplastic epithelium & metastatic LNs, and primary tumor and metastatic LNs were observed (p values were 0.014, 0.001, 0.034, respectively). On the other hand, Cortactin expression revealed no statistically significant differences across the three groups. However, statistically significant differences between dysplastic epithelium & primary tumor, dysplastic epithelium & metastatic LNs, and primary tumor and metastatic LNs were found (p values were 0.014, 0.001, 0.034, respectively). Moreover, the Spearman test presented a strong positive correlation between Drp1 and cortactin expression in the studied cases. CONCLUSION: Expressions of both Drp1 and cortactin relatively explain their great role in the propagation and the carcinogenesis of OSCC.
Complete resolution of non-tuberculous mycobacterial pulmonary nodule following cryobiopsy: The first case report.
Han SJ, Chung C, Park D
Diagn Pathol · 2025 Apr · PMID 40217310 · Full text
BACKGROUND: Non-tuberculous mycobacterial (NTM) lung disease presents diagnostic and therapeutic challenges, often mimicking lung cancer, tuberculosis, and other bronchopulmonary disorders. Management typically involves...
BACKGROUND: Non-tuberculous mycobacterial (NTM) lung disease presents diagnostic and therapeutic challenges, often mimicking lung cancer, tuberculosis, and other bronchopulmonary disorders. Management typically involves prolonged antibiotic treatment, but alternative therapeutic approaches for localized disease remain underexplored. Cryobiopsy has emerged as an advanced bronchoscopic diagnostic technique, providing larger, higher-quality lung tissue samples compared to traditional forceps biopsy. However, its potential therapeutic effects, particularly its unintended cryoablation effect, remain an area of active investigation. CASE PRESENTATION: A 46-year-old healthy woman was incidentally found to have a 1.3-cm pulmonary nodule in the left anterior basal segment during a routine health examination, with no symptoms or significant medical history. Initial CT imaging raised suspicions of T1a lung cancer. Subsequent endobronchial ultrasound transbronchial lung biopsy and transbronchial lung cryobiopsy revealed granulomatous inflammation. Tests for tuberculosis and NTM, including acid-fast bacilli (AFB) smear, mycobacterial culture, and PCR for Mycobacterium tuberculosis and NTM, were negative. Following the biopsies, chest X-rays showed an enlarged shadow at the lesion, suggesting necrosis after cryobiopsy. The patient was treated with moxifloxacin, leading to symptom improvement. A final diagnosis of NTM infection, specifically Mycobacterium avium, was confirmed from bronchoalveolar lavage fluid obtained three weeks after the tissue biopsy. Remarkably, at four months post-biopsy, a chest CT scan showed complete resolution of the nodule without additional antimicrobial therapy, suggesting a potential therapeutic effect of cryobiopsy-induced cryoablation. CONCLUSIONS: NTM nodules may undergo necrosis and resolve due to the ablation effect of cryobiopsy, suggesting cryoablation as a potential option for inoperable localized NTM disease.
From benign appearance to malignant truth: a case report of mesenteric dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features.
Schallenberg S, Schulte M, Dragomir MP … +3 more , Jarosch A, Hartmann W, Wardelmann E
Diagn Pathol · 2025 Apr · PMID 40211332 · Full text
Dedifferentiated liposarcoma (DDLPS) with inflammatory myofibroblastic tumor (IMT)-like features is a rare and diagnostically challenging variant of soft tissue sarcoma. We report the case of a 74-year-old man who presen...
Dedifferentiated liposarcoma (DDLPS) with inflammatory myofibroblastic tumor (IMT)-like features is a rare and diagnostically challenging variant of soft tissue sarcoma. We report the case of a 74-year-old man who presented with a mesenteric mass in 2022 and recurrent tumors in 2024. Tissue from both primary and recurrent tumors were submitted to our reference center for pathological reevaluation, with a suspicion of IMT being suspected. Although the tumors exhibited morphological characteristics consistent with those observed in IMT, they displayed distinctive histological, immunohistochemical and molecular features suggestive of DDLPS with IMT-like features, including amplification of the MDM2 gene. This report highlights the morphological spectrum of DDLPS, the diagnostic role of molecular pathology, and the importance of differentiating this aggressive neoplasm from benign entities such as IMT.
Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports.
Chen X, Jiang Q, Xiao J … +2 more , Zhang M, Shen L
Diagn Pathol · 2025 Apr · PMID 40188333 · Full text
BACKGROUND: Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its imm...
BACKGROUND: Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no comprehensive genomic analysis of this tumor has been conducted. CASE PRESENTATION: We present the clinicopathological features, imaging characteristics, and immunophenotypes of three patients with MELTVR, along with their genomic characterization through high-throughput sequencing. Immunohistochemical analysis revealed that these tumors were negative for SMARCB1, S-100, CD34, CD31, SMA, Desmin, and Keratin. The Ki-67 proliferation index for tumor cells ranged from 10 to 35%. Genomic analyses showed copy number deletions in the SMARCB1 gene in all three patients. The tumor mutational burden was relatively low, ranging from 1.35 to 4.33. Additionally, two tumors exhibited fusion mutations involving PPP6R3::FHDC1 and MYH9::MYH6, while no fusions involving EWSR1, NR4A3, or FUS were detected. CONCLUSIONS: This study reports the first comprehensive genomic analysis of three patients with MELTVR, potentially identifying therapeutic targets for this rare tumor.
Multimodal therapy successfully treats methemoglobinemia caused by emamectin benzoate and indoxacarb poisoning: a case report.
Zhang Q, Luan YY, Sun FF … +3 more , Chen YQ, Wang SD, Hu GW
Diagn Pathol · 2025 Apr · PMID 40188036 · Full text
Poisoning from emamectin benzoate combined with indoxacarb can cause neurological symptoms and methemoglobinemia, which may present clinically as confusion, cyanosis, dyspnea, and limb convulsions. In such cases, naloxon...
Poisoning from emamectin benzoate combined with indoxacarb can cause neurological symptoms and methemoglobinemia, which may present clinically as confusion, cyanosis, dyspnea, and limb convulsions. In such cases, naloxone can be used to alleviate neurological symptoms, while high-dose vitamin C and low-concentration methylene blue can reduce methemoglobin (MetHb) to improve hypoxic symptoms. Hemoperfusion and continuous renal replacement therapy (CRRT) can rapidly remove exogenous and endogenous toxins from the blood, effectively protecting against organ damage to the heart, liver, and kidneys caused by emamectin benzoate poisoning.
Normolipidemic lipoprotein glomerulopathy with IgA nephropathy - ApoE Kyoto mutation: a case report.
Yi X, Bai L, Chen K … +2 more , He Y, Chen J
Diagn Pathol · 2025 Apr · PMID 40186270 · Full text
BACKGROUND: Lipoprotein glomerulopathy (LPG), a rare genetic metabolic kidney disease with poor prognosis, is caused by mutations in the apolipoprotein E (ApoE) gene and is usually accompanied by hyperlipidemia. Lipoprot...
BACKGROUND: Lipoprotein glomerulopathy (LPG), a rare genetic metabolic kidney disease with poor prognosis, is caused by mutations in the apolipoprotein E (ApoE) gene and is usually accompanied by hyperlipidemia. Lipoprotein glomerulopathy can be complicated by other glomerulopathies, such as membranous nephropathy, lupus nephritis, and immunoglobulin A nephropathy (IgAN), which have been mainly reported in Japan. Herein, we present the first case of a patient with LPG with IgAN from Chongqing, China. In contrast to previous cases, this patient lacked hyperlipidemia and ApoE was a Kyoto mutation. CASE PRESENTATION: A 38-year-old man was admitted to our hospital due to proteinuria and hematuria, which was found during urine examination. Renal function and blood lipid and lipoprotein levels were normal. After renal biopsy, the patient was diagnosed of LPG with IgAN. Analysis of the ApoE gene showed a heterozygous C→T transition in exon 3, resulting in a change in the 25th amino acid from arginine to cysteine (Kyoto mutation). Genetic analysis of the family showed that this mutation was inherited from his father and passed on to his daughter. Serum ApoE was 14.4 mg/dL. Combined with the above findings, the patient was diagnosed with LPG accompanied by IgAN. After 18 months of enalapril treatment without lipid-lowering therapy, the patient's renal function and blood lipid levels were stable and urine protein levels were significantly ameliorated. CONCLUSION: We presented a rare case of LPG (Kyoto) with IgAN without abnormal blood lipids and other typical clinical manifestations. Therefore, for patients with unremarkable clinical manifestations, renal biopsy is of great value for definite diagnosis of disease.
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