Pediatric And Developmental Pathology[JOURNAL]
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200 papers
Increased Placental Calcifications in Fetal Skeletal Dysplasias.
Moss KE, Keir HL, Boyd TK … +3 more , Aras S, Nair S, Kim CF
Pediatr Dev Pathol · 2026 May · PMID 42187141 · Publisher ↗
BACKGROUND: Placental calcifications are common and often associated with post-term placentas and maternal vascular disorders. However, their significance in specific fetal disease contexts remains poorly understood. Ane...
BACKGROUND: Placental calcifications are common and often associated with post-term placentas and maternal vascular disorders. However, their significance in specific fetal disease contexts remains poorly understood. Anecdotally, placentas belonging to fetuses with skeletal dysplasias (SD) often demonstrate increased placental calcifications. Our aim was to systematically evaluate calcification patterns in SD placentas. METHODS: Retrospective case-control study of molecularly confirmed SD placentas (2016-2025) and controls. One perinatal pathologist reviewed gross features and performed histologic evaluation of cases and controls. Placental calcifications were scored using a unique calcification scoring system. RESULTS: SD cases had a higher total calcification score than controls ( < .001). SD cases were more likely to have larger calcification patterns ( = .013) as well as a higher grade of calcifications ( = .001). Calcification scores were also statistically significantly higher for both the <30 weeks gestational age (GA) group ( = .002) and the >36 weeks GA group ( = .013). CONCLUSION: Increased placental calcifications were seen in cases of fetal SD across GAs. While SD calcifications tended to be smaller at earlier GAs, they were higher in frequency compared to controls. Although some calcifications can be attributed to placental aging, the term SD cases showed significantly increased scores in comparison.
Fetal/Perinatal Lethal Gaucher Disease: A Case Series.
Konstantinidou AE, Ketsekioulafis I, Florentin L
Pediatr Dev Pathol · 2026 May · PMID 42165577 · Publisher ↗
Gaucher disease is a rare lysosomal storage disease caused by mutations in the GBA gene, resulting in the accumulation of glucosylceramides in macrophages. The perinatal/lethal form, also including fetal Gaucher disease,...
Gaucher disease is a rare lysosomal storage disease caused by mutations in the GBA gene, resulting in the accumulation of glucosylceramides in macrophages. The perinatal/lethal form, also including fetal Gaucher disease, is a distinct and severe variant, usually presenting with non-immune hydrops fetalis, hepatosplenomegaly, ichthyosiform changes, and typical "Gaucher cells" seen on histology in various organs. Four cases of fetal/perinatal Gaucher disease are presented, 1 genetically confirmed and 3 histologically diagnosed, with a description of the prenatal findings and the pathological features at autopsy. In all 4 cases, hydrops was detected prenatally after the 24th week of gestation, leading to termination of pregnancy. Hepatosplenomegaly was confirmed at autopsy in 3 cases. Dysmorphic features included thick lips and eclabium, upturned nose, thick antitragus, and micropenis in the 2 male fetuses. Histologically, characteristic Gaucher cells were found in multiple organs, while in 2 cases brain involvement was reported. In conclusion, fetal Gaucher disease shows distinct pathological characteristics. Some facial features and micropenis are highlighted for the first time, whereas ichthyosiform body skin changes described in neonates and infants are not typically seen in the fetus. Brain involvement is variable. Further reporting of genotype-phenotype correlations is necessary in cases of fetal/perinatal Gaucher disease.
Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation.
Tulsiyan A, Bhattacharya S, Radhakrishnan N … +3 more , Gaire H, Singh A, Tiwari N
Pediatr Dev Pathol · 2026 May · PMID 42165386 · Publisher ↗
Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We repor...
Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We report a 13-year-old boy with 2 months of fever, pancytopenia, and disseminated MRSA abscesses. Bone marrow showed myelokathexis but no blasts. Immunological evaluation excluded WHIM syndrome and inborn errors of immunity. After infection control and transient hematologic recovery, the child relapsed with recurrent fever and cytopenia. Peripheral smear revealed 85% myeloblasts; bone marrow confirmed AML with t(8;21), monosomy Y, del(9q), and ASXL1 mutation. He achieved remission with cytarabine-based induction and consolidation, but hematopoietic stem cell transplantation (HSCT) was declined. This case illustrates the diagnostic challenge of prolonged cytopenia and infection preceding AML. Myelokathexis suggested immune dysfunction but ultimately represented an early clonal abnormality. Although t(8;21) is favorable, ASXL1 mutation confers high-risk biology, supporting HSCT in first remission. Children with unexplained cytopenia require vigilant monitoring and genomic profiling. Integration of molecular risk factors should guide individualized treatment strategies.
Eosinophilic Myenteric Ganglionitis in a Newborn: Case Report.
Sua LF, Conde MDM, Bravo JC … +1 more , Fernández-Trujillo L
Pediatr Dev Pathol · 2026 May · PMID 42154483 · Publisher ↗
Eosinophilic myenteric ganglionitis is a rare cause of pseudo-obstructive intestinal syndrome, predominantly reported in children. It is characterized by symptoms that mimic mechanical intestinal obstruction, despite the...
Eosinophilic myenteric ganglionitis is a rare cause of pseudo-obstructive intestinal syndrome, predominantly reported in children. It is characterized by symptoms that mimic mechanical intestinal obstruction, despite the absence of a demonstrable lesion, and is identified histologically by an eosinophilic myenteric inflammatory process. We report the case of a male newborn presenting with intestinal obstruction found to have intestinal malrotation and histological evidence of colonic wall ganglion cells surrounded by a moderate eosinophilic infiltrate. The patient underwent surgical correction with a protective diverting ileostomy, resulting in progressive clinical improvement. At 18 months of age, follow-up with a contrast enema revealed persistent old contrast medium in the dysfunctional sigmoid rectum, suggesting possible rectal motility impairment. This is the first reported case in the literature of a newborn with intestinal malrotation in the presence of eosinophilic myenteric ganglionitis. The need for comprehensive intestinal wall biopsy for accurate diagnosis is emphasized, highlighting the importance of early diagnosis for proper management and complication prevention. This case underscores the necessity for further research to enhance understanding, diagnosis, and treatment of eosinophilic myenteric ganglionitis.
Isolated Hepatic Cryptococcosis in an Immunocompetent Child: A Rare Cause of Granulomatous Hepatitis with Cholestasis.
Kiruthiga KG, Patel K, Bavdekar A … +2 more , Kulkarni P, Pradhan A
Pediatr Dev Pathol · 2026 May · PMID 42140621 · Publisher ↗
Cryptococcosis is an opportunistic fungal infection acquired through inhalation of and is typically encountered in immunocompromised hosts. In children, reported cases most commonly involve the central nervous system or...
Cryptococcosis is an opportunistic fungal infection acquired through inhalation of and is typically encountered in immunocompromised hosts. In children, reported cases most commonly involve the central nervous system or lungs, with hepatic disease usually occurring as part of disseminated infection. Isolated hepatic cryptococcosis in an immunocompetent child is exceptionally rare and provides insight into developmental immune responses in early childhood. We report a young immunocompetent child presenting with fever, hepatomegaly, and cholestatic liver dysfunction. Liver biopsy revealed preserved lobular architecture with prominent portal-based granulomatous inflammation composed of epithelioid histiocytes, multinucleated giant cells, lymphocytes, and eosinophils. Numerous encapsulated yeast forms were identified on routine microscopy and confirmed by mucicarmine staining. Comprehensive clinical evaluation showed no evidence of central nervous system or pulmonary involvement. The well-formed granulomas with relatively contained organisms suggest intact Th1-mediated cellular immunity and effective interferon-γ-driven macrophage activation despite early age. This case highlights the capacity of the developing pediatric immune system to generate organized granulomatous responses and underscores the liver's unique immunologic microenvironment in modulating host-pathogen interactions. Recognition of this rare presentation is critical in the differential diagnosis of pediatric granulomatous hepatitis to facilitate timely antifungal therapy and favorable clinical outcomes.
Standardized Placental Pathology Reporting: Improving Quality and Clinical Utility Recommendations From the Society for Pediatric Pathology Placental Pathology Reporting Task Force.
Ravishankar S, Cady F, Carreon CK … +10 more , Castro E, Duncan VE, Katzman PJ, Roberts DJ, Mestan KK, Gyamfi-Bannerman C, Florescue H, Wimmer L, Loehlein AA, Parast M
Pediatr Dev Pathol · 2026 May · PMID 42136565 · Publisher ↗
BACKGROUND: Placental pathology has benefited greatly from the standardization of definitions provided by the Amsterdam consensus, however the quality of placental pathology reporting continues to suffer from a lack of u...
BACKGROUND: Placental pathology has benefited greatly from the standardization of definitions provided by the Amsterdam consensus, however the quality of placental pathology reporting continues to suffer from a lack of unified and practical reporting standards and difficulty in applying the Amsterdam definitions to general clinical practice. METHODS: A multidisciplinary Placental Pathology Reporting Task Force was formed to develop a standardized placental pathology reporting template based on a combination of evidence-based literature review and consensus expert opinion, and designed to complement the Amsterdam definitions. The goal of the task force was to create a practical, succinct, clinically informative, and easily customizable template that can be adapted to varying institutional preferences. RESULTS: The proposed standardized reporting template encompasses a wide breadth of common placental pathologic diagnoses and provides recommended diagnostic terminology, explanatory comments and practical tips, and notes to ease the application of definitions. Input from pathologists from different practice settings, obstetric providers, neonatologists, and patient advocates was integrated. CONCLUSIONS: The introduction of a standardized placental reporting template holds the potential to reform and advance placental pathology practice across the diverse range of settings in which it is currently performed. The proposed template is adaptable, allowing pathologists to include additional information beyond the recommended standard as needed/preferred. Widespread adoption of this framework will enhance the clinical utility and value of placental pathology reports by clinicians and patients, ultimately supporting more informed and appropriate management of neonates and future pregnancies.
The Role of Adenovirus Immunohistochemistry in Acute Appendicitis in Children.
Liang G, Zhang D, González IA
Pediatr Dev Pathol · 2026 May · PMID 42132400 · Publisher ↗
BACKGROUND: Acute appendicitis is the most common indication for emergent surgery in children and is due to a nonspecific obstruction of the appendiceal lumen. Rare reports have linked the association of adenovirus infec...
BACKGROUND: Acute appendicitis is the most common indication for emergent surgery in children and is due to a nonspecific obstruction of the appendiceal lumen. Rare reports have linked the association of adenovirus infection presenting with intussusception with acute appendicitis due to a secondary lymphoid hyperplasia leading to obstruction. MATERIALS AND METHODS: The goal of this study is to evaluate the prevalence of adenovirus infection by immunohistochemistry (IHC) (clone 20/11 & 2/6, Cell Marque) in an unbiased cohort of appendectomies due to acute appendicitis in children performed during 1 calendar year. RESULTS: 421 appendectomies with acute appendicitis (group 1) were included in the study with a median age of 10 years (range: 1-17) and with a male predominance (61%). Additionally, 19 appendectomies performed during an ileocolic intussusception without acute appendicitis (group 2) were included, presenting with a median age of 1 year (range: 3 months-21 years) and a female predominance (63.2%). All group 1 cases showed transmural and periappendiceal acute inflammation, which was absent in all group 2 cases. Adenovirus IHC was negative in all cases in group 1 but positive in 7 cases (36.8%) in group 2. All cases with a positive adenovirus IHC show viral cytopathic changes within the surface epithelium, consistent with adenovirus. CONCLUSION: In this unbiased cohort of pediatric patients with acute appendicitis, adenovirus infection, as detected by IHC, was absent in all cases. Outside the setting of an intussusception and if viral cytopathic changes are not seen on routine histology, adenovirus IHC is not recommended in cases of acute appendicitis.
Editor-in-Chief's Note.
Russo P
Pediatr Dev Pathol · 2026 · PMID 42093630 · Publisher ↗
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Epithelioid Fibrous Histiocytoma With an Fusion in a Child: A Case Expanding the Spectrum of Receptor-Tyrosine Kinase Driven Epithelioid Fibrous Histiocytoma.
Challa B, Naous R, Kirschner R … +2 more , Reshmi SC, Prasad V
Pediatr Dev Pathol · 2026 May · PMID 42084416 · Publisher ↗
Epithelioid fibrous histiocytoma (EFH) is a benign cutaneous neoplasm that is now recognized to be largely driven by rearrangements. Rare cases of EFH and EFH-spectrum tumors with other receptor tyrosine kinase (RTK) fu...
Epithelioid fibrous histiocytoma (EFH) is a benign cutaneous neoplasm that is now recognized to be largely driven by rearrangements. Rare cases of EFH and EFH-spectrum tumors with other receptor tyrosine kinase (RTK) fusions including and have been described, demonstrating the molecular heterogeneity of this entity. Herein, we report a 9-year-old female with a 1.5 cm right lateral chest wall lesion showing classic EFH morphology. Histology demonstrated a nodular dermal tumor extending to dermo-epidermal junction above and subcutaneous tissue below. The lesion was characterized by sheets of bland epithelioid/histiocytoid cells with a vaguely whorled architecture, prominent vessels, focal myxoid stroma, and no significant atypia, mitoses, or necrosis. On immunohistochemistry, the lesional cells were highlighted by CD68 and CD163, with patchy CD99 positivity. The lesional cells were negative for AE1/AE3, CD34, SMA, Desmin, S100, SOX10, CD10, ERG, CD1a, Langerin, CD30, and CD31. INI-1 was retained. Targeted solid tumor fusion analysis showed an fusion. This case expands the molecular spectrum of EFH beyond rearrangements and previously described and fusions.
Detection of Tumor Suppressor Genes Rare Variants: Findings From Neuroblastoma Using Next-Generation Sequencing.
Erol A, Kızmazoğlu D, Aktaş TÇ … +2 more , Elif Gökbayrak Ö, Aktaş S
Pediatr Dev Pathol · 2026 Apr · PMID 42057469 · Publisher ↗
BACKGROUND/OBJECTIVES: Neuroblastomas (NB) influenced by genetic alterations, which plays significant role in disease progression. Tumor suppressor genes (TSGs) are crucial in regulating cell growth, suppressing replicat...
BACKGROUND/OBJECTIVES: Neuroblastomas (NB) influenced by genetic alterations, which plays significant role in disease progression. Tumor suppressor genes (TSGs) are crucial in regulating cell growth, suppressing replication, and inducing apoptosis to prevent cancer formation. However, mutations in TSGs can lead to loss of normal activity, contributing to cancer development. This study aimed to identify TSG variants in NB patients and assess their clinical significance. METHODS: One hundred two NB patients diagnosed and monitored according to the International Neuroblastoma Risk Group Staging System (INRGSS) protocol were included in this study. DNA was extracted from paraffin-embedded tissue samples, and Next-Generation Sequencing (NGS) was conducted using the Pillar ONCO/Reveal Multi-Cancer v4 panel. RESULTS: The most frequently recurring TSG variant detected was RB1, p.P793S (n = 21; 25%) followed by ATM, p.D1853N (n = 20, 19.6%).Stop-gain variants were identified in TP53 (p.R196*), FBXW7 (p.R367*), and PTEN (p.G129*). CONCLUSIONS: Our findings underscore the significance of specific TSG variants in NB, particularly in relation to disease progression and potential prognostic markers. Further research is needed to comprehensively assess the role of TSGs in NB, with an emphasis on germline variants and protein expression in larger patient cohorts.
Upper Gastrointestinal Biopsy Findings in Pediatric Inflammatory Bowel Disease: Histologic and Clinicopathologic Correlations.
Büyük M, Berker N, Bağbudar S … +4 more , Vurallı Bakkaloğlu D, Önal Z, Durmaz Ö, Güllüoğlu M
Pediatr Dev Pathol · 2026 Apr · PMID 42037081 · Publisher ↗
OBJECTIVES: We aimed to evaluate histologic findings in upper gastrointestinal (UGI) biopsies of pediatric inflammatory bowel disease (IBD) patients, their correlation with endoscopic features, and association with disea...
OBJECTIVES: We aimed to evaluate histologic findings in upper gastrointestinal (UGI) biopsies of pediatric inflammatory bowel disease (IBD) patients, their correlation with endoscopic features, and association with disease activity. METHODS: UGI biopsies from 50 pediatric IBD patients (31 Crohn's disease [CD] and 19 ulcerative colitis [UC]) were retrospectively reviewed. Esophageal, gastric, and duodenal samples were categorized as highly suggestive, suspicious, or unlikely for UGI involvement. Associations with endoscopic abnormalities, colonoscopic disease extent, and simplified Geboes scores were analyzed. RESULTS: Highly suggestive findings were most common in the antrum (60%), followed by the corpus (26%), esophagus (24%), and duodenum (20%). Focal enhanced gastritis (FEG) was the leading feature and appeared more frequently in UC than CD, though without statistical significance. -negative active chronic gastritis, distinct from FEG, was identified and classified as suspicious for involvement. Duodenal findings including cryptitis, crypt abscesses, crypt distortion, villous blunting, and foveolar metaplasia may reflect IBD-related changes rather than nonspecific inflammation and were more frequent in UC, but not significantly. Highly suggestive findings in the esophagus and duodenum correlated with endoscopic abnormalities, whereas gastric findings did not. In contrast, highly suggestive antral and corpus findings were associated with higher simplified Geboes scores. CONCLUSIONS: UGI involvement in pediatric IBD is easily overlooked and requires careful assessment. Integrating histologic, clinical, and endoscopic findings is essential, as characteristic UGI features may influence disease evaluation and therapeutic decision making.
When Rare Meets Young: Pediatric Presentation of Desmoplastic Fibroblastoma.
Della Mura M, Sorino J, Colagrande A … +4 more , Amati C, Dibello D, Ingravallo G, Cazzato G
Pediatr Dev Pathol · 2026 Apr · PMID 42036220 · Publisher ↗
Desmoplastic fibroblastoma (DF), also known as collagenous fibroma, is a rare benign soft tissue tumor that predominantly occurs in adults. It consists of a well-circumscribed proliferation of stellate and/or spindle-sha...
Desmoplastic fibroblastoma (DF), also known as collagenous fibroma, is a rare benign soft tissue tumor that predominantly occurs in adults. It consists of a well-circumscribed proliferation of stellate and/or spindle-shaped fibroblasts embedded within an abundant, hypovascular collagenous stroma. We report a very rare case of DF arising in the left thigh of a 12-year-old boy, located in the subcutaneous tissue and measuring 4.2 cm at its greatest dimension. Two years after the complete surgical excision, the patient remains free of recurrence. To date, only 5 additional cases of DF have been reported in pediatric patients, predominantly affecting males and demonstrating a uniformly benign clinical course. Our report further supports the potential occurrence of DF in childhood and adolescence, underscoring the importance of including this entity in the differential diagnosis of benign fibroblastic or fibrohistiocytic lesions even in pediatric soft-tissue pathology.
Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.
Garnier C, Mégier C, Dumery G … +2 more , Encha-Razavi F, Martinovic J
Pediatr Dev Pathol · 2026 Apr · PMID 42035325 · Publisher ↗
INTRODUCTION: Pontocerebellar hypoplasia (PCH) comprises a group of rare, perinatal-onset neurodegenerative genetic disorders characterized by reduced cerebellar and brainstem volume. Among the 17 recognized subtypes lis...
INTRODUCTION: Pontocerebellar hypoplasia (PCH) comprises a group of rare, perinatal-onset neurodegenerative genetic disorders characterized by reduced cerebellar and brainstem volume. Among the 17 recognized subtypes listed in the OMIM database, PCH12 is notable for its severe presentation. This subtype results from biallelic pathogenic variants in the gene, leading to loss of function and impair coenzyme A (CoA) biosynthesis. CASE REPORT: We report 2 fetal cases from a consanguineous Pakistani couple, referred to a fetal medicine center for PCH associated with a homozygous c.1486-3C>G pathogenic variant. The couple's first pregnancy was uneventful. However, the second and third pregnancies revealed severe cerebellar hypoplasia and additional brain anomalies on ultrasound and fetal MRI. Both pregnancies were terminated following prenatal findings, and post-fetopathological molecular testing confirmed the variant. DISCUSSION: These cases highlight the severe fetal phenotype of PCH12, characterized by cerebellar and brainstem hypoplasia, microcephaly, and neurodegeneration. The recurrence of this lethal condition in a consanguineous family underscores the importance of molecular diagnosis for early detection and genetic counseling. Preimplantation genetic testing for future pregnancies and cascade testing of extended family members are essential in such populations. Our antenatal report emphasizes the need for a multidisciplinary approach to the diagnosis and management of PCH12.
High-Risk Histological Subtypes of Papillary Thyroid Carcinoma Predict More Aggressive Disease in Pediatric Patients.
Parsons LN, Hopp AM, Jarzembowski JA
Pediatr Dev Pathol · 2026 Apr · PMID 42029176 · Publisher ↗
INTRODUCTION: Papillary thyroid carcinoma (PTC) is uncommon in children compared with adults. Studies have examined the significance of histologic subtype on outcomes in adults; less is known about its importance in pedi...
INTRODUCTION: Papillary thyroid carcinoma (PTC) is uncommon in children compared with adults. Studies have examined the significance of histologic subtype on outcomes in adults; less is known about its importance in pediatric PTC. We sought to examine the relationship between PTC histologic subtype and clinicopathologic factors in children. METHODS: The LIS was queried for pediatric PTC thyroidectomy patients between 01/2000 and 12/2023. H&E slides were assessed by 2 pathologists for PTC histologic subtypes per the 2022 WHO Classification of Endocrine and Neuroendocrine Tumors. All patterns identified in each tumor were recorded. Relevant clinicopathologic data was collected and correlated with histology using 2-tailed heteroscedastic Student--tests. RESULTS: Forty-six pediatric PTC patients were identified during the study timeframe. 16 (34.8%) tumors showed at least focal high-risk subtype morphology. The presence of any high-risk histology in any quantity correlated with higher AJCC pT stage ( = .0471), high ATA Risk Classification ( = .049), disease recurrence ( = .0357), and distant metastatic disease ( = .0034). CONCLUSIONS: Our findings suggest that WHO-defined high-risk PTC histologic subtypes correlate with more aggressive disease in children. This correlation - observed regardless of the amount of high-risk subtype in a given tumor - suggests that these morphologic patterns may provide important prognostic insight for these children.
Clinical Significance of Renal Tissue in Neonatal Sacrococcygeal Teratoma: A Case Report With Review of Literature.
Conte A, Rebella S, Gaggero G … +8 more , Vellone VG, Conte M, Parisi F, Palo F, Pavanello M, Giardina A, Arkangelskaya E, Sorrentino S
Pediatr Dev Pathol · 2026 Apr · PMID 42029172 · Publisher ↗
Congenital sacrococcygeal teratomas (SCTs) are rare tumors with highly variable prognosis, influenced by associated abnormalities and marked histological heterogeneity. SCTs may exhibit somatic renal differentiation, enc...
Congenital sacrococcygeal teratomas (SCTs) are rare tumors with highly variable prognosis, influenced by associated abnormalities and marked histological heterogeneity. SCTs may exhibit somatic renal differentiation, encompassing a wide spectrum of cytological and architectural features, for which accepted diagnostic criteria are lacking. This renders the distinction between immature nephrogenic tissue and true nephroblastoma particularly challenging. We report an illustrative neonatal case of SCT containing a minor nephroblastomatous component and conducted a systematic review to evaluate management and outcomes in newborns (≤28 days old) with renal tissue identified within SCTs. A comprehensive search of PubMed, Scopus, and Web of Science yielded 532 records, of which 16 studies met inclusion criteria. Including the present case, 19 newborns were analyzed. Renal tissue was described as immature or ectopic nephrogenic tissue in 15 cases (79%) and as overtly malignant, consistent with Wilms tumor, in 4 cases (21%). All patients underwent surgical resection, while chemotherapy (n = 5; 26.3%) and radiotherapy (n = 2; 10.5%) were less frequently administered. Median follow-up was 29.5 months (range: 4-154), with no cancer-related mortality. In the absence of standardized diagnostic criteria, renal differentiation within SCTs represents a diagnostic and therapeutic dilemma, supporting a cautious, multidisciplinary management approach.
Novel Pediatric Presentation of Pseudomyogenic Hemangioendothelioma: Diagnostic Pitfalls and Considerations of an Atypical Case.
Du L, Ranginwala S, Gelarden I
Pediatr Dev Pathol · 2026 Apr · PMID 42028913 · Publisher ↗
Pseudomyogenic hemangioendothelioma (PMH) is a rare, often multicentric neoplasm occurring primarily in soft tissue. Fewer than 50 cases of isolated bone lesions are described, with nearly all restricted to bone(s) of 1...
Pseudomyogenic hemangioendothelioma (PMH) is a rare, often multicentric neoplasm occurring primarily in soft tissue. Fewer than 50 cases of isolated bone lesions are described, with nearly all restricted to bone(s) of 1 region of the body. Two cases are described with diffuse bone involvement without soft tissue lesions, which has never been described in pediatric patients. We describe a unique case of PMH presenting as diffuse, polyostotic bone lesions in a 16-year-old. Neoplastic cells showed very weak, patchy staining for essential diagnostic stains, highlighting an important diagnostic pitfall. Additionally, the tumor showed uncharacteristic prominent histiocytic infiltrate without the usual associated neutrophils. Molecular sequencing detected fusion transcript, confirming the diagnosis. This is the first described cases of diffuse, polyostotic PMH in a pediatric patient without soft tissue involvement. Furthermore, this is the first described case of histocyte-rich PMH. Overall, the case illustrates several unique features and diagnostic pitfalls important for pediatric pathologists to recognize in PMH. A high index of suspicion is necessary to perform the appropriate targeted molecular testing that might be needed to confirm the diagnosis.
Comparative Analysis of Molecular Profiles of Sporadic Odontogenic Keratocyst and Bilateral Odontogenic Keratocyst: A Next Generation Sequencing Study.
Verma K, Pandiar D, Krishnan RP
Pediatr Dev Pathol · 2026 Apr · PMID 42011068 · Publisher ↗
AIM: To comparatively analyse and interpret the molecular profiles of sporadic odontogenic keratocysts (OKC) with bilateral non-syndromic odontogenic keratocysts employing next-generation sequencing (NGS). MATERIALS AND...
AIM: To comparatively analyse and interpret the molecular profiles of sporadic odontogenic keratocysts (OKC) with bilateral non-syndromic odontogenic keratocysts employing next-generation sequencing (NGS). MATERIALS AND METHODS: All histopathologically confirmed cases were processed for 50 hotspot gene panel using NGS, followed by protein-protein analysis using the STRING Consortium 2023. RESULTS: Except for 1 case, which was seen in the maxilla in a female patient, all included cases affected the mandible in males. In sporadic cases, a missense mutation was frequently found with either gain/ loss of function (GOF/LOF). TP53 showed a missense mutation with LOF at exon 5 and a nonsense mutation with LOF at exon 10. Other mutations were noted in the MET gene exon 19 and BRAF gene exon 11. Contrariwise, an identical mutation was seen in the left and right lesions of bilateral OKC, which was a mutation of TP53 with LOF at exon 8. Additionally OKC of the right side showed a gain-of-function (missense mutation) of the NRAS gene at exon 3. CONCLUSION: The TP53 gene mutation plays a significant role in the pathogenesis of OKC and supports its neoplastic nature. Bilateral OKC showed additional NRAS mutation, and sporadic cases demonstrated MET and BRAF mutations.
A Case Report of I-Cell Disease (Mucolipidosis Type II) With a Novel Placental-Focused Diagnostic Approach.
LaScala N, Rose L, Sanchez J … +5 more , Chousal JN, Murray S, Parast M, Pham B, Aisagbonhi O
Pediatr Dev Pathol · 2026 Apr · PMID 42007676 · Publisher ↗
Inclusion cell disease (I-cell disease/Mucolipiodsis Type II) is an autosomal recessive lysosomal storage disorder that results in accumulation of substrates (cholesterol, phospholipids, and glycosaminoglycans) in variou...
Inclusion cell disease (I-cell disease/Mucolipiodsis Type II) is an autosomal recessive lysosomal storage disorder that results in accumulation of substrates (cholesterol, phospholipids, and glycosaminoglycans) in various tissues. The clinical presentation of I-cell disease includes hepatomegaly, splenomegaly, cardiomegaly, upper respiratory infections, skeletal deformities, developmental delay, abnormal facies, and failure to thrive. We describe a case of I-cell disease in a neonate admitted to the Neonatal Intensive Care Unit for respiratory distress with initial suspicion of infection. Placental histopathological findings included syncytiotrophoblast vacuolization and positive lipid vacuoles highlighted with the special stain, Oil Red-O. Ultra-rapid whole genome sequencing from buccal swab identified compound heterozygous variants consistent with I-cell disease. Whole exome sequencing of placental tissue showed concordant pathogenic variants. To our knowledge, this is the first report of Oil Red-O staining of intracytoplasmic lipids within syncytiotrophoblast and successfully identifying variants by sequencing placental DNA in the setting of I-cell disease.
Pathology of Progressive Familial Intrahepatic Cholestasis: An update.
Mitra S, Vij M, Menon J … +2 more , Shanmugum N, Rela M
Pediatr Dev Pathol · 2026 · PMID 41960685 · Publisher ↗
Progressive familial intrahepatic cholestasis (PFIC) comprises a heterogeneous group of rare, autosomal recessive liver disorders characterised by defective bile formation and secretion, leading to progressive cholestasi...
Progressive familial intrahepatic cholestasis (PFIC) comprises a heterogeneous group of rare, autosomal recessive liver disorders characterised by defective bile formation and secretion, leading to progressive cholestasis, pruritus, growth impairment, and early onset liver failure. Advances in molecular genetics have identified distinct causative pathogenic variants involving key hepatocellular transporters of bile salts, and phospholipids, giving rise to multiple PFIC subtypes. Early recognition is crucial, as timely medical management and surgical interventions may delay disease progression, while liver transplantation remains the definitive therapy for advanced cases. Through this comprehensive review, we seek to strengthen pathologists understanding of the disease by outlining its morphomolecular and immunohistochemical features, together with the subtleties and diagnostic hallmarks critical for accurate diagnosis.
Placental Expression of CD15 in Fetal Anemia From Hydrops Fetalis.
Wongphoom J, Nimitpanya P, Atiroj N … +2 more , Taweevisit M, Thorner PS
Pediatr Dev Pathol · 2026 Mar · PMID 41918177 · Publisher ↗
INTRODUCTION: CD15 expression has been used as a marker of endothelial immaturity in the placenta and is linked to the setting of antenatal hypoxia. If so, expression should be increased in fetal anemia, especially when...
INTRODUCTION: CD15 expression has been used as a marker of endothelial immaturity in the placenta and is linked to the setting of antenatal hypoxia. If so, expression should be increased in fetal anemia, especially when severe enough to cause hydrops fetalis. This has not been previously reported and the current study tested this hypothesis. MATERIALS AND METHODS: The study group consisted of 10 cases of anemic hydrops in second to early third trimester of gestation and 10 controls matched for gestational age. The majority (70%) of hydrops cases were due to hemoglobin (Hb) Bart. Placentas underwent CD15 immunohistochemical staining and results were quantitatively assessed by counting 100 vessels in each case. RESULTS: For the anemic group, the mean number of CD15+ vessels was 52.0% in the proximal vasculature and 91.3% in the distal vasculature. Values for controls were 32.9% and 42.2%, respectively. The CD15 expression in the distal vasculature was significantly higher in the anemic hydrops group ( < .001), but not significantly higher for the proximal vasculature ( = .14). In the control group, the number of CD15+ vessels decreased with increasing gestational age for both proximal and distal vasculatures. In contrast, in the anemic hydrops group, the number of CD15+vessels did not significantly change with gestational age, for both the proximal and distal vasculatures. CONCLUSION: Placentas belonging to anemic hydrops cases demonstrate significantly increased expression of CD15 in the distal vasculature. CD15 expression in HF may be driven by hypoxia, reflecting an attempt by the placenta to compensate for this.
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