Diagn Pathol [JOURNAL]
Sun
200 papers
Accuracy of human epidermal growth factor receptor 2 (HER2) immunohistochemistry scoring by pathologists in breast cancer, including the HER2-low cutoff : HER2 IHC scoring concordance in breast cancer.
Wróbel A, Vandenberghe M, Scott M … +5 more , Jones F, Matsuo T, Boothman AM, Whiteley J, Barker C
Diagn Pathol · 2025 Apr · PMID 40186179 · Full text
BACKGROUND: Breast cancer was previously categorized as human epidermal growth factor receptor 2 (HER2)-positive (immunohistochemistry [IHC] 3+, IHC 2+ / in situ hybridization [ISH]-positive) or HER2-negative (IHC 0, IHC...
BACKGROUND: Breast cancer was previously categorized as human epidermal growth factor receptor 2 (HER2)-positive (immunohistochemistry [IHC] 3+, IHC 2+ / in situ hybridization [ISH]-positive) or HER2-negative (IHC 0, IHC 1+, IHC 2+/ISH-). Recent studies of trastuzumab deruxtecan, a HER2-directed antibody-drug conjugate, have explored the spectrum of HER2 expression in tumors categorized as HER2-negative, including HER2-low (IHC 1+, IHC 2+/ISH-) and HER2-ultralow (IHC 0 with membrane staining). Clinical relevance of HER2-low and HER2-ultralow is reinforced by encouraging efficacy findings in these populations. OBJECTIVE: To assess HER2-low and HER2-ultralow scoring performance by pathologists, and compare real-world HER2-low scoring with centralized scoring by trained pathologists. METHODS: Formalin-fixed, paraffin-embedded breast cancer samples stained by the VENTANA anti-HER2/neu (4B5) Rabbit Monoclonal Primary Antibody (Roche) assay were selected to ensure adequate representation across all HER2 IHC scores (N = 500). Samples were rescored in a central laboratory by three pathologists trained in HER2-low scoring, and a majority consensus generated. Agreement between consensus and historical real-world HER2 scores was assessed by Fleiss' kappa across HER2 scores (IHC 0, 1+, 2+, 3+). RESULTS: Substantial agreement was observed among central pathologists across HER2 scores (κ = 0.69), for the HER2-low cutoff (IHC 0 vs. IHC 1+, 2+, 3+; κ = 0.79), and the HER2-ultralow cutoff (IHC 0 absent membrane staining vs. IHC 0 with membrane staining, 1+, 2+, 3+; κ = 0.68). Substantial agreement was observed between real-world pathologists and central consensus for the HER2-low cutoff (κ = 0.72). CONCLUSIONS: Pathologists can reproducibly score HER2-low and HER2-ultralow when supported by training. Findings may aid decision-making for patients with breast cancer who are potentially eligible for HER2-directed therapy.
A rare case of Alveolar Soft-Part Sarcoma in the Uterine cervix.
Du M, Li Y, Fan X … +4 more , Gao H, Shi J, Cheng S, Meng T
Diagn Pathol · 2025 Apr · PMID 40176092 · Full text
Alveolar soft-part sarcoma (ASPS), a rare and malignant neoplasm of soft tissues, comprises less than 1% of all soft-tissue sarcomas and is characterized by distinct histopathological and molecular markers. A 27-year-old...
Alveolar soft-part sarcoma (ASPS), a rare and malignant neoplasm of soft tissues, comprises less than 1% of all soft-tissue sarcomas and is characterized by distinct histopathological and molecular markers. A 27-year-old female presented with a history of postcoital vaginal bleeding and intermittent bleeding over the preceding month. Imaging studies identified abnormal echogenicity and vascular patterns in the posterior cervical lip. Initial histopathological assessment indicated a perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement; however, subsequent immunohistochemical and molecular analyses corroborated the diagnosis of ASPS. The patient underwent a total laparoscopic hysterectomy with bilateral salpingo-oophorectomy. Postoperative pathology revealed that the residual tumor was confined to the inner third of the cervix, with no evidence of lymphovascular or perineural invasion. The patient did not receive adjuvant therapy and was followed for three months postoperatively, during which no recurrence or metastasis was observed. Given the extreme rarity of ASPS, its diagnosis necessitates meticulous scrutiny by pathologists to inform and guide subsequent therapeutic approaches.
Microsecretory adenocarcinoma: simplifying the diagnosis of a recently recognized salivary gland and cutaneous adnexal neoplasm.
Abdelmoneim NA, Elfouly AM, Abou Madawi NA
Diagn Pathol · 2025 Apr · PMID 40176070 · Full text
BACKGROUND: Microsecretory adenocarcinoma (MSA) is a newly identified entity in the WHO classification of salivary gland tumors characterized by MEF2C::SS18 fusion. It was previously considered as adenocarcinoma not othe...
BACKGROUND: Microsecretory adenocarcinoma (MSA) is a newly identified entity in the WHO classification of salivary gland tumors characterized by MEF2C::SS18 fusion. It was previously considered as adenocarcinoma not otherwise specified (NOS). With the discovery of new gene fusions specifying distinct salivary gland tumors and restricting the diagnosis of adenocarcinoma NOS, five cases of MSA were recognized for the first time using targeted RNA sequencing. Afterwards, further authors reported MSA in the salivary glands and more recently in the skin. METHODS: We reviewed the literature for all cases of MSA reported in English-language articles. We comprehensively discussed clinical, histopathological, immunohistochemical and molecular findings of the retrieved cases. RESULTS: Forty cases were identified. Thirty cases occurred in the salivary glands and ten cases occurred in the skin. They were characterized histologically by a well circumscribed mass formed of microcysts containing basophilic secretions and enclosed in a fibromyxoid stroma. The tumor cells were flattened resembling intercalated duct cells with minimal eosinophilic cytoplasm and small oval nuclei. By immunohistochemistry, the tumor cells were positive for SOX10, S100, p63 and negative for p40, calponin and mammaglobin. However, cutaneous cases had a somewhat different immunoprofile. CONCLUSION: MSA is a salivary gland malignancy that also has a cutaneous counterpart. Focusing on emphasising the almost consistent histopathological and immunohistochemical findings help in increasing the awareness of clinicians, surgeons and pathologists about it and at the same time lessening the need for more complicated diagnostic methods that are not readily available in all institutions. Despite the low-grade nature of this tumor, thorough management and rigorous follow up of cases are highly recommended due to occasional aggressive behaviour.
The morphological characteristics and arrangements of cells in the liquid-based cytology preparation of patients with endometrial lesions.
Wu MZ, Gu NJ, Xiao MM … +7 more , Liu DG, Jin ML, Liu XY, Wang J, Xu HT, Zhang Y, Wu GP
Diagn Pathol · 2025 Apr · PMID 40170092 · Full text
BACKGROUND: The accurate cytological diagnosis of endometrial carcinomas by minimally invasive method has a broad application. There are several articles described the morphological characteristics but not arrangements o...
BACKGROUND: The accurate cytological diagnosis of endometrial carcinomas by minimally invasive method has a broad application. There are several articles described the morphological characteristics but not arrangements of endometrial lesion cells on LBC slides. METHODS: A retrospective study was conducted using 175 endometrial samples obtained by direct negative pressure suction with disposable endometrial sampler. All lesions were diagnosed both cytologically and histologically, and the diagnostic results were compared and analyzed. RESULTS: The cytological diagnoses of polyps, simple or complex hyperplasia, and atypical hyperplasia were highly consistent with the histological diagnosis. The cytological features of polyps and normal endometrium, as well as simple and complex hyperplasia, are the same. Among 82 cases of histologically confirmed adenocarcinoma, the cytological diagnosis were adenocarcinoma cells (46 cases, 56.10%), suspected for adenocarcinoma cells (22 cases, 26.83%), and false negative (14 cases,17.07%). Retrospective reviewing the slide suggest diagnostic parameters such as significantly enlarged nuclei, multistage papillary arrangements, large and numerous nucleoli, and large vacuoles containing neutrophils in the cytoplasm are reliable diagnostic criteria for endometrial carcinoma cells; on the other hand, ignorance of lobulated arrangements and escaped arrangements are the main reasons for missed diagnosis. CONCLUSIONS: The cytological diagnosis of endometrial lesions not only depends on the morphological characteristics of cells, but also need careful observations of the cellular arrangements.
A case of quadruple wild-type gastrointestinal stromal tumor with CDC42BPB::NTRK3 fusion and abundant lymphoid infiltration.
Xiang W, Yuan W, Ren L … +6 more , Huang W, Liang H, Huang J, Luan L, Xu C, Hou Y
Diagn Pathol · 2025 Mar · PMID 40133893 · Full text
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. The most common mutations in GISTs are those in receptor tyrosine kinase (KIT) and platelet-derived growth fac...
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. The most common mutations in GISTs are those in receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA). GISTs without KIT or PDGFRA mutations are defined as wild-type (WT) GISTs. The molecular changes, prognosis, and treatments of WT GISTs remain uncertain. Among WT GISTs, neurotrophic tyrosine receptor kinase (NTRK) fusions have rarely been reported. We report a case of quadruple wild-type GIST harboring a novel CDC42BPB::NTRK3 fusion. In this study, we described a 66-year-old male patient with intrajejunal lesion. This case showed massive lymphocytic and plasma cell infiltration, which caused diagnostic difficulties in morphology. CDC42BPB::NTRK3 fusion was detected via next-generation sequencing (NGS), and this finding was confirmed by fluorescence in situ hybridization (FISH), which revealed NTRK3 breakage. However, the expression of the Trk protein in tumor tissue was not detected by immunohistochemistry (IHC). This finding expands the genetic spectrum of NTRK rearrangements in GISTs.
Correction: An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement.
Deng Y, Liu W, Sun K
Diagn Pathol · 2025 Mar · PMID 40119409 · Full text
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Overcoming missed diagnoses of primary central nervous system Lymphoma-The key role of cerebrospinal fluid cytology: a case report.
Zhu S, Jin J, Wang X … +5 more , Xu H, Zhou F, Lai Y, Yu D, Zhou Y
Diagn Pathol · 2025 Mar · PMID 40089740 · Full text
BACKGROUND: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively rare, occurring at a rate of approximately 5%. Primary CNS lymphoma (CNS-DLBCL), a subtype of DLBCL, is rare cli...
BACKGROUND: Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively rare, occurring at a rate of approximately 5%. Primary CNS lymphoma (CNS-DLBCL), a subtype of DLBCL, is rare clinically but highly malignant and invasive. Its atypical clinical symptoms and imaging features contribute to a high rate of misdiagnosis and a poor prognosis. Thus, early and accurate diagnosis is imperative for improving the patient's prognosis. Cerebrospinal fluid (CSF) cytology, a rapid and convenient diagnostic method, plays a crucial role in diagnosing intracranial tumors. CASE PRESENTATION: In this instance, the patient presented with nonspecific early symptoms and exhibited atypical imaging findings. A lumbar puncture performed at another hospital yielded a low cell count in the CSF, leading to an incorrect diagnosis. Upon admission to our hospital, CSF cytology identified abnormal cells. A definitive diagnosis of CNS-DLBCL was established utilizing additional diagnostic methods, facilitating targeted treatment. CONCLUSIONS: This case underscores the pivotal role of CSF cytology in rapidly guiding the differential diagnosis of intracranial tumors and underscores the necessity of training laboratory personnel in morphological examination.
Advanced pathological subtype classification of thyroid cancer using efficientNetB0.
Guo H, Zhang J, Li Y … +2 more , Pan X, Sun C
Diagn Pathol · 2025 Mar · PMID 40055769 · Full text
BACKGROUND: Thyroid cancer is a prevalent malignancy requiring accurate subtype identification for effective treatment planning and prognosis evaluation. Deep learning has emerged as a valuable tool for analyzing tumor m...
BACKGROUND: Thyroid cancer is a prevalent malignancy requiring accurate subtype identification for effective treatment planning and prognosis evaluation. Deep learning has emerged as a valuable tool for analyzing tumor microenvironment features and distinguishing between pathological subtypes, yet the interplay between microenvironment characteristics and clinical outcomes remains unclear. METHODS: Pathological tissue slices, gene expression data, and protein expression data were collected from 118 thyroid cancer patients with various subtypes. The data underwent preprocessing, and 10 AI models, including EfficientNetB0, were compared. EfficientNetB0 was selected, trained, and validated, with microenvironment features such as tumor-immune cell interactions and extracellular matrix (ECM) composition extracted from the samples. RESULTS: The study demonstrated the high accuracy of the EfficientNetB0 model in differentiating papillary, follicular, medullary, and anaplastic thyroid carcinoma subtypes, surpassing other models in performance metrics. Additionally, the model revealed significant correlations between microenvironment features and pathological subtypes, impacting disease progression, treatment response, and patient prognosis. CONCLUSION: The research establishes the effectiveness of the EfficientNetB0 model in identifying thyroid cancer subtypes and analyzing tumor microenvironment features, providing insights for precise diagnosis and personalized treatment. The results enhance our understanding of the relationship between microenvironment characteristics and pathological subtypes, offering potential molecular targets for future treatment strategies.
A rare case of rib chondrosarcoma with purely mesenchymal cells metastases to thyroid.
Wang J, Mei F, Li M … +2 more , Song S, Li X
Diagn Pathol · 2025 Mar · PMID 40055748 · Full text
Metastasis to the thyroid gland is uncommon. The most common malignant tumors that metastasize to the thyroid gland include renal cell carcinoma, colorectal cancer, lung cancer, and breast cancer. Metastasis of chondrosa...
Metastasis to the thyroid gland is uncommon. The most common malignant tumors that metastasize to the thyroid gland include renal cell carcinoma, colorectal cancer, lung cancer, and breast cancer. Metastasis of chondrosarcoma to thyroid is extremely rare.We describe a rare case of rib chondrosarcoma metastases to the thyroid gland. We reviewed patient characteristics, histological presentations, treatments, time of recurrence on chondrosarcoma, and metastasis situation. Additionally, we review all English articles reporting cases of chondrosarcoma metastasis to the thyroid gland that have been published in Embase, PubMed, and ISI WEB of Science databases (1981-2023) in this paper.Only 7 cases of chondrosarcoma metastasis to the thyroid have been reported, including one report written in French. (Otmany et al. in Médecine Du Maghreb 53-54, 2001). We found that most patients are female adults, with compression signs or pain, most of whose metastases occurred after several years, and whom have poor prognoses. The main examinations are CT and ultrasound, the primary treatment is surgery, and the major pathological characteristic is coexistence of chondrocytes and mesenchymal cells.The case we describe here is the first report of mesenchymal chondrosarcoma metastasis to the thyroid gland with only pure mesenchymal cells and no chondrocytes. Moreover, these rare cases highlight the necessary of communication between radiologists, histopathologists, and clinicians. It is meaningful to acquaint previous malignant tumor for diagnosing the metastases to the thyroid gland.
Perinephric myxoid pseudotumor of fat - histopathological and molecular characterization of 3 cases after renal transplantation.
Schnoz C, Bonani M, Huber FA … +5 more , Helmchen BM, Fehr T, Bode-Lesniewska B, Pauli C, Gaspert A
Diagn Pathol · 2025 Mar · PMID 40025595 · Full text
BACKGROUND: Perinephric myxoid pseudotumor of fat (PMPF) is a rare benign pseudo-neoplastic proliferation of the perinephric and renal sinus adipose tissue. Its pathogenesis is thought to be a reactive process typically...
BACKGROUND: Perinephric myxoid pseudotumor of fat (PMPF) is a rare benign pseudo-neoplastic proliferation of the perinephric and renal sinus adipose tissue. Its pathogenesis is thought to be a reactive process typically associated with neoplastic and non-neoplastic end-stage kidney disease. The distinctive histopathological feature of PMPF is a myxoid process comprising bland, spindled stromal cells interspersed with mature adipose tissue. Macroscopically, it is characterized by tumorous lipomatous remodeling of the kidney, which may raise concerns of malignancy on imaging. To date, only seven cases of PMPF have been documented in the context of kidney transplantation. CASE PRESENTATION: This report describes three cases of PMPF in patients following renal transplantation, involving both native and grafted kidneys. Macroscopically, all cases consisted of shrunken kidneys with thinned and atrophic renal parenchyma surrounded by massively hypertrophic perirenal fat with mass-forming nodules, which was in concordance with cross sectional imaging findings acquired before surgery. Histology of the remaining renal parenchyma showed end stage renal disease in all four surgically removed kidneys, with diffuse interstitial fibrosis, tubular atrophy and sclerosed glomeruli. Perirenal adipose tissue consisted of mature fat with areas of significant myxoid and collagenous stromal component, interspersed with bland spindle and stellate-shaped cells. Immunohistochemistry for S100, smooth muscle actin, desmin and IgG4 were negative. No MDM2 gene amplification was identified by fluorescence in situ hybridization. Broad molecular profiling using the FoundationOneHeme assay revealed no evidence of pathogenic alterations on DNA and RNA levels. CONCLUSION: PMPF is a rare benign condition typically associated with chronic kidney disease, occurring late in the course. The radiological findings may be mistaken for those of a malignant tumor, and histopathological examination is required to exclude a malignant neoplasm, in particular a well-differentiated or dedifferentiated liposarcoma of the retroperitoneum. Renal transplant recipients can be affected by PMPF, which can occur in both native and transplanted kidneys several years following renal transplantation.
Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.
Hashmi AA, Brogi E, Wen HY
Diagn Pathol · 2025 Mar · PMID 40025593 · Full text
INTRODUCTION: Breast cancer, especially triple-negative breast cancer (TNBC), lacks sensitive and specific diagnostic markers that can reliably differentiate it from carcinomas of other origins. TRPS1 is a relatively new...
INTRODUCTION: Breast cancer, especially triple-negative breast cancer (TNBC), lacks sensitive and specific diagnostic markers that can reliably differentiate it from carcinomas of other origins. TRPS1 is a relatively new immunohistochemical (IHC) marker that has demonstrated higher sensitivity in breast cancer, including TNBC. However, with the increasing use of this marker, broader immunoreactivity has been observed. This study aims to evaluate the utility of TRPS1 for establishing carcinoma of mammary origin. We compared the diagnostic sensitivity and specificity of TRPS1 with that of other IHC markers (GATA3 and SOX10). METHODS: In this retrospective study, we reviewed TRPS1 IHC performed at our center between 07/2022 and 06/2024, to evaluate the expression of TRPS1 in breast carcinoma (primary and distant metastasis) and in other malignancies. The sensitivity and specificity of TRPS1 in determining carcinoma of breast origin were compared with those of GATA3 and SOX10. RESULTS: The study cohort comprised 106 cases, including 17 cases at the primary site, and 89 samples of distant metastasis. After correlation with morphology, immunophenotype and molecular studies, 94 cases (88.7%) were characterized as breast primary (37.9% ER+/HER2neu-, 4.6% ER-/HER2neu+, 1.1% ER+/HER2neu+, 56.3% TNBC), whereas 12 (11.3%) were non-breast primary. The non-breast primary sites included lung, bladder, Mullerian, and gastrointestinal. The sensitivity and specificity of TRPS1 were 93.6% and 58.3%, respectively. Conversely, GATA3 demonstrated a sensitivity and specificity of 76.9% and 66.7%, respectively. SOX10 exhibited the lowest sensitivity at 47.9%, but with the highest specificity at 100%. There were three cases of metastatic breast carcinoma (sites: bladder, lung, and bone), where TRPS1 was the only positive marker, whereas GATA3 and SOX10 were negative. TRPS1 showed a higher positivity rate (92.0%) in TNBC compared to GATA3 (63.4%) and SOX10 (56.7%). TRPS1 expression was also observed in other tumor types, including carcinoma of Mullerian origin, bladder, and lung, limiting its utility in the differential diagnosis. CONCLUSION: Our study demonstrated a higher sensitivity of TRPS1 expression in establishing carcinoma of breast origin compared with GATA3 and SOX10, consistent with previous reported studies. However, the specificity of TRPS1 was lower than that of GATA3 and SOX10. These findings suggest that while TRPS1 can be used as a reliable marker for breast cancer, its expression in other tumor types should be carefully interpreted to avoid diagnostic pitfalls.
An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement.
Deng Y, Liu W, Sun K
Diagn Pathol · 2025 Feb · PMID 40022218 · Full text
BACKGROUND: Ectomesenchymal chondromyxoid tumor (ECT) is a rare benign intraoral tumor that almost exclusively presents as a small mass on the anterior dorsal tongue. Recently, the ras-responsive element-binding protein...
BACKGROUND: Ectomesenchymal chondromyxoid tumor (ECT) is a rare benign intraoral tumor that almost exclusively presents as a small mass on the anterior dorsal tongue. Recently, the ras-responsive element-binding protein 1::myocardin-related transcription factor B (RREB1::MRTFB; previously known as MKL2) fusion gene has been identified in 90% of ECTs, all localized to the tongue, highlighting its genetic distinctiveness. Herein, we report a mesenchymal tumor involving the plantar fascia of the left foot in a young woman, harboring the RREB1::MRTFB fusion gene. CASE PRESENTATION: The tumor presented as a well-circumscribed mass. Following complete excision, no recurrence was observed at the six-month follow-up. Histological examination revealed tumor cells exhibiting mild nuclear atypia and very low mitotic activity. Immunohistochemical analysis showed diffuse positive staining for S100, glial fibrillary acidic protein (GFAP), and CD56, variable expression of smooth muscle actin, and negative staining for SOX10 and P63. Targeted RNA sequencing identified RREB1 (exon 8)-MRTFB (exon 11) fusion transcripts. Collectively, these findings suggest the possibility of a previously unreported extralingual ECT involving the plantar fascia. However, its atypical morphology and uncommon anatomical location posed significant diagnostic challenges. CONCLUSIONS: We report, for the first time, a mesenchymal chondromyxoid tumor with an RREB1::MRTFB fusion gene occurring in the foot. This case expands the known distribution of ECT beyond the tongue. Accurate differential diagnosis should rely on thorough histological assessment, combined with immunohistochemical and molecular analyses.
Dedifferentiated liposarcoma with extensive cystic change causing significant diagnostic challenges: report of two cases and review of the literature.
Vetter VK, Limani P, Ensle F … +4 more , Brown ML, Bankel L, Bühler MM, Pauli C
Diagn Pathol · 2025 Feb · PMID 40016768 · Full text
BACKGROUND: Retroperitoneal dedifferentiated liposarcoma is a rare, aggressive malignancy, characterized by high rates of recurrences and the potential for metastasis. On imaging, these tumors typically present as a soli...
BACKGROUND: Retroperitoneal dedifferentiated liposarcoma is a rare, aggressive malignancy, characterized by high rates of recurrences and the potential for metastasis. On imaging, these tumors typically present as a solid mass with lipomatous and non-lipomatous components. Cystic changes of dedifferentiated liposarcomas is exceedingly rare and might pose significant diagnostic challenges, with only a few cases reported in the literature. REPORT OF 2 CASES: We here present two cases of retroperitoneal dedifferentiated liposarcoma with a rare cystic presentation in two female patients aged 51 and 62 years. Imaging revealed large perinephric cystic masses measuring up to 13.0 cm and 16.1 cm, respectively, with calcifications of the cyst wall observed in the second case. Differential diagnoses included cystic echinococcosis, mesenchymal neoplasms, and benign cystic lesions (e.g. endometrial cyst). Both patients underwent upfront compartmental en-bloc surgical resection of the tumor mass and the kidney after multidisciplinary tumor board (MDT) discussion. Macroscopically, the tumors were adherent to but sharply demarcated from the kidney. Histological examination of the first case revealed a small component of well-differentiated liposarcoma (WDLPS) adjacent to a large non-lipogenic sarcoma with a prominent whirling pattern, compatible with dedifferentiation. The second case demonstrated a spindle cell neoplasm with prominent osteosarcomatous heterologous differentiation. MDM2 amplification was confirmed in both cases by molecular testing. No long-term follow-up data is available for either patient. CONCLUSION: In conclusion, these cases highlight the importance of recognizing unusual and extensive cystic changes of dedifferentiated liposarcoma, which can complicate the diagnostic work-up.
Annotation-free genetic mutation estimation of thyroid cancer using cytological slides from multi-centers.
Xiong S, Liu S, Zhang W … +5 more , Zeng C, Liao D, Tang T, Wang S, Guo Y
Diagn Pathol · 2025 Feb · PMID 39985045 · Full text
Thyroid cancer is the most common form of endocrine malignancy and fine needle aspiration (FNA) cytology is a reliable method for clinical diagnosis. Identification of genetic mutation status has been proved efficient fo...
Thyroid cancer is the most common form of endocrine malignancy and fine needle aspiration (FNA) cytology is a reliable method for clinical diagnosis. Identification of genetic mutation status has been proved efficient for accurate diagnosis and prognostic risk stratification. In this study, a dataset with thyroid cytological images of 310 indeterminate (TBS3 or 4) and 392 PTC (TBS5 or 6) was collected. We introduced a multimodal cascaded network framework to estimate BARF V600E and RAS mutations directly from thyroid cytological slides. The area under the curve in the external testing set achieved 0.902 ± 0.063 and 0.801 ± 0.137 AUCs for BRAF, and RAS, respectively. The results demonstrated that deep neural networks have the potential in cytologically predicting valuable diagnosis and comprehensive genetic status.
Whole exome sequencing identified mutations of forkhead box I 1 (FOXI1), keratin 6 C (KRT6C) and gap junction protein delta 2 (GJD2) in a low-grade oncocytic tumor of the kidney: a case report.
Kakumoto A, Nishimura K, Toki D … +6 more , Kasajima R, Kuroda H, Nagashima Y, Kondo T, Miyagi Y, Masunaga A
Diagn Pathol · 2025 Feb · PMID 39980061 · Full text
BACKGROUND: Low-grade oncocytic tumor (LOT) of the kidney is an emerging entity among renal oncocytic tumors. While the histological features of LOT of the kidney are similar to those of renal oncocytoma, LOT immunohisto...
BACKGROUND: Low-grade oncocytic tumor (LOT) of the kidney is an emerging entity among renal oncocytic tumors. While the histological features of LOT of the kidney are similar to those of renal oncocytoma, LOT immunohistochemically expresses keratin 7 (KRT7) but not KIT while renal oncocytoma expresses KIT. Molecular analyses of LOTs of the kidney using next generation sequencing revealed those tumors harbor mutations of mTOR-related genes. CASE PRESENTATION: An 80-year-old Japanese man with a history of clear cell renal cell carcinoma and prostatic cancer underwent resection of the tumor of the right kidney, 10 mm in diameter, which was monitored for six years. The tumor was histologically composed of oncocytic cells that expressed KRT7, vimentin, SDHA, SDHB and fumarate hydratase, but not KIT, GATA3 and alpha-methylacyl-CoA racemase. We diagnosed the tumor as LOT of the kidney. Whole-exome sequencing of the LOT revealed single nucleotide variants in the DNA-binding region of forkhead box I1 (FOXI1), the coil 1B domain of keratin 6 C (KRT6C) and the intracytoplasmic region of gap junction delta 2 (GJD2), which encodes connexin 36. However, there was no mutations in mTOR-related genes. No copy number alterations were detected in the tumor. CONCLUSIONS: We report three mutations in genes that have not been previously reported in LOT of the kidney. The genes are not related to the mTOR pathway. Therefore, LOT of the kidney might occur through several mechanisms and/or include several types of renal oncocytic tumors.
Correction: Tumor Area Positivity (TAP) score of programmed death-ligand 1 (PD-L1): a novel visual estimation method for combined tumor cell and immune cell scoring.
Liu C, Fang F, Kong Y … +1 more , ElGabry EA
Diagn Pathol · 2025 Feb · PMID 39966838 · Full text
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Description of two cases of follicular dendritic cell sarcoma, including next-generation sequencing analysis.
Jing Y, Ye H, Luo S … +1 more , Wang J
Diagn Pathol · 2025 Feb · PMID 39955540 · Full text
Follicular dendritic cell sarcoma (FDCS), an infrequent malignancy, poses diagnostic challenges due to its nonspecific clinical presentations and propensity for recurrence and metastasis, particularly when assessed throu...
Follicular dendritic cell sarcoma (FDCS), an infrequent malignancy, poses diagnostic challenges due to its nonspecific clinical presentations and propensity for recurrence and metastasis, particularly when assessed through imaging modalities. Accurate diagnosis relies heavily on pathological morphology and immunohistochemical analysis. This study examines two FDCS cases from the Affiliated Hospital of Zunyi Medical University. Next-generation sequencing (NGS) identified three gene rearrangements-HFM1::BIRC3, ELF4::AIFM1, and DIP2B::WIF1 -in one case, while no genetic alterations were detected in the other. The report explores clinicopathological characteristics, molecular genetics, differential diagnosis, therapeutic approaches, and prognosis to enhance diagnostic and pathological understanding of FDCS in medical practice.
Detection of the 30-bp deletion and protein expression of Epstein-Barr virus latent membrane protein 1 in extranodal NK/T cell lymphoma and its clinicopathological significance.
Lu X, Han Q, Li P … +5 more , Huang K, Ji X, Chen S, Lin R, Wang X
Diagn Pathol · 2025 Feb · PMID 39948602 · Full text
BACKGROUND: Extranodal natural killer/T-cell lymphoma (ENKTCL) is strongly associated with Epstein-Barr virus (EBV) infection. A 30-base-pair deletion in latent membrane protein 1 (del-LMP1) represents the most common va...
BACKGROUND: Extranodal natural killer/T-cell lymphoma (ENKTCL) is strongly associated with Epstein-Barr virus (EBV) infection. A 30-base-pair deletion in latent membrane protein 1 (del-LMP1) represents the most common variant in the EBV genome, but its clinicopathological significance in ENKTCL remains poorly elucidated. Some scholars suggested that the LMP1 protein product carrying the deletion gene reduced immunogenicity, allowed it to escape immune surveillance in immunocompetent hosts and confer a survival advantage. Therefore, simultaneous assessment of del-LMP1 and LMP1 protein expression may provide deeper insights into the potential role of LMP1 in ENKTCL tumorigenesis and progression. This study aimed to investigate the impact of del-LMP1 and LMP1 protein expression on the clinicopathological manifestations and prognosis of ENKTCL patients in Wenzhou. METHODS: The clinical and histological characteristics of 42 ENKTCL cases were retrospectively evaluated. Del-LMP1 was detected using a nested polymerase chain reaction and Sanger sequencing, while LMP1 protein expression was assessed via immunohistochemistry. Overall survival (OS) was analyzed. RESULTS: The LMP1 gene was identified in 37/42 ENKTCL cases, including 2 wild-type (wt-LMP1), 35 del-LMP1 cases. LMP1 protein expression was positive in 21/42 cases. In the control group, the LMP1 gene was detected in 6/10 cases, all of which were del-LMP1, and the LMP1 protein was positive in 4/10 cases. Fisher's exact test revealed no significant differences between the two groups in the LMP1 gene, del-LMP1, or LMP1 protein expression. Additionally, there was no significant correlation between del-LMP1 and LMP1 protein expression and clinical characteristics such as age, gender, or vascular invasion. However, LMP1 protein expression was significantly higher in necrotic tissues (p = 0.030) and younger patients with del-LMP1 (p = 0.004). Survival analysis showed no significant difference in OS between wt-LMP1 and del-LMP1 patients (p = 0.331) or between LMP1-positive and -negative cases (p = 0.592). CONCLUSION: In this retrospective cohort, we demonstrated that del-LMP1 might be the predominant variant rather than a phenotype-associated polymorphism in ENKTCL from a molecular epidemiological perspective. Moreover, LMP1 protein expression was associated with necrotic tissue and younger patients with del-LMP1, possibly due to the enhanced pathogenic effect of the mutated LMP1 isolate protein.
An update on applications of digital pathology: primary diagnosis; telepathology, education and research.
Zia S, Yildiz-Aktas IZ, Zia F … +1 more , Parwani AV
Diagn Pathol · 2025 Feb · PMID 39940046 · Full text
Digital Pathology or whole slide imaging (WSI) is a diagnostic evaluation technique that produces digital images of high quality from tissue fragments. These images are formed on glass slides and evaluated by pathologist...
Digital Pathology or whole slide imaging (WSI) is a diagnostic evaluation technique that produces digital images of high quality from tissue fragments. These images are formed on glass slides and evaluated by pathologist with the aid of microscope. As the concept of digital pathology is introduced, these high quality images are digitized and produced on-screen whole slide images in the form of digital files. This has paved the way for pathologists to collaborate with other pathology professionals in case of any additional recommendations and also provides remote working opportunities. The application of digital pathology in clinical practice is glazed with several advantages and adopted by pathologists and researchers for clinical, educational and research purposes. Moreover, digital pathology system integration requires an intensive effort from multiple stakeholders. All pathology departments have different needs, case usage, and blueprints, even though the framework elements and variables for effective clinical integration can be applied to any institution aiming for digital transformation. This article reviews the background and developmental phases of digital pathology and its application in clinical services, educational and research activities.
The impact of C216T and hot spot mutations of the TERT promoter on the clinicopathologic characteristics and S100A10 expression in papillary thyroid carcinoma: a comparative study.
Li P, Huang C, Liu X … +2 more , Gui H, Li J
Diagn Pathol · 2025 Feb · PMID 39934880 · Full text
OBJECTIVE: The C216T mutation in the TERT promoter (TERTp) is a rarely reported genetic alteration in papillary thyroid carcinoma (PTC). Its clinical significance remains unclear. This study aimed to compare the impact o...
OBJECTIVE: The C216T mutation in the TERT promoter (TERTp) is a rarely reported genetic alteration in papillary thyroid carcinoma (PTC). Its clinical significance remains unclear. This study aimed to compare the impact of the C216T and hot spot mutations (C228T and C250T) of TERTp on the clinicopathologic characteristics and the expression of S100A10, a member of the S100 protein family, in PTC. METHODS: In this retrospective study, a cohort comprising 8 PTC cases with the C216T mutation, 12 cases with the hot spot mutations, and 120 cases with the wildtype genotype was established. The influence of TERTp mutations on the clinicopathologic profiles of PTC was assessed. RESULTS: The C216T mutation was mutually exclusive with the hot spot mutations and its frequency (0.19%) fell between that of C228T (0.68%) and C250T (0.06%). Compared to PTC cases with the wildtype genotype, cases with C216T mutations did not exhibit significant differences in clinicopathologic characteristics and S100A10 expression levels. In contrast, the hot spot mutations were positively associated with extrathyroidal extension (p = 0.001), ATA recurrence risk (p < 0.001), AJCC staging (p < 0.001), and increased expression of S100A10 (p = 0.005). Furthermore, a significant correlation was found between S100A10 expression and extrathyroidal extension (p = 0.005), lymph node metastasis (p = 0.013), and ATA recurrence risk (p = 0.023). CONCLUSION: The C216T mutation did not induce the aggressiveness of PTC as the hot spot mutations did. Furthermore, the hot spot mutations were closely associated with the increased expression of S100A10. The latter may contribute to the pro-invasive effect of the hot spot mutations on PTC.
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