Josselyn Sofia Vergara, Lianna Jean Marks, Oscar Silva
{"title":"Primary Splenic Nodular Lymphocyte Predominant Hodgkin Lymphoma (NLPHL): First Reported Case in a Young Child.","authors":"Josselyn Sofia Vergara, Lianna Jean Marks, Oscar Silva","doi":"10.1177/10935266251368431","DOIUrl":"https://doi.org/10.1177/10935266251368431","url":null,"abstract":"<p><p>Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of B-cell lymphoma. NLPHL is usually indolent, involves lymph nodes and shows a favorable prognosis with high overall survival. In a minority of cases, patients may present and/or progress to advanced disease with involvement of the spleen, liver, and/or bone marrow. While splenic involvement by NLPHL is usually presumed evidence of advanced disease with poor prognosis, here we report to our knowledge, the first case of primary splenic NLPHL occurring in a child who showed no overt nodal disease and is currently free of disease 3 years post-splenectomy without additional treatment.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251368431"},"PeriodicalIF":1.3,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144986837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gabriel L Carreno-Galeano, Cynthia Fata, Lisal Folsom, Laura Cornwell
{"title":"Persistent Müllerian Duct Syndrome and Concurrent Pre-Germ Cell Neoplasia In Situ.","authors":"Gabriel L Carreno-Galeano, Cynthia Fata, Lisal Folsom, Laura Cornwell","doi":"10.1177/10935266251361629","DOIUrl":"https://doi.org/10.1177/10935266251361629","url":null,"abstract":"<p><p>Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development in 46,XY individuals, characterized by the presence of Müllerian duct structures and typically associated with cryptorchidism and an elevated risk of testicular malignancy. Germ cell neoplasia in situ (GCNIS) is a known precursor to testicular germ cell tumors, but the earlier stage of pre-GCNIS remains poorly characterized, particularly in the context of PMDS. We report the first known case of pre-GCNIS identified in a patient with PMDS. A male infant presented with a non-palpable right testis and was found to have intra-abdominal gonads with Müllerian remnants. Histopathology revealed centrally located gonocytes with OCT3/4 expression but without the morphological features of GCNIS, consistent with pre-GCNIS. Management included right orchiectomy and left orchiopexy. This case highlights the underrecognized early stages of germ cell dysregulation in PMDS and raises important considerations about the timing of gonadectomy, fertility preservation, and long-term surveillance. Further research is needed to clarify the malignant potential of pre-GCNIS in DSD populations and to inform individualized, risk-based management strategies.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251361629"},"PeriodicalIF":1.3,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144791738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pauline Mae Dy, Rachel Santos, Erick Martin Yturralde
{"title":"Histopathologic Features of Biliary Atresia and Outcome Predictors of Kasai Portoenterostomy: A 10-Year Retrospective Study of a Philippine Cohort.","authors":"Pauline Mae Dy, Rachel Santos, Erick Martin Yturralde","doi":"10.1177/10935266251359976","DOIUrl":"https://doi.org/10.1177/10935266251359976","url":null,"abstract":"<p><strong>Introduction: </strong>There is a dearth of information regarding the epidemiology of biliary atresia and Kasai portoenterostomy (KPE) outcomes in the Philippines. Here we describe the histopathologic features of biliary atresia and identify outcome predictors of KPE in a local cohort.</p><p><strong>Materials and methods: </strong>We performed a retrospective review of all KPEs done in our institution from 2013 to 2023, focusing on pertinent clinical and histologic features. Patients were categorized into having favorable or unfavorable outcomes based on a 3-month post-operative serum total bilirubin (≥2 mg/dL) or mortality.</p><p><strong>Results: </strong>Of the 71 patients who underwent KPE during this period, 41 had liver biopsies available for review. Fibrosis, ductular reaction, and portal tract cellular infiltrates were consistently present in all samples examined, with varying degrees of giant cell transformation, portal tract edema, and ductal plate malformation. An elevated AST to Platelet Ratio Index (APRI) was linked to poorer prognosis, while visible bile plugs in biopsies significantly correlated with unfavorable outcomes.</p><p><strong>Conclusions: </strong>This study demonstrated the extensive variability of clinical and histologic features in biliary atresia. Identifying significant laboratory and histologic predictors of liver survival is essential in management and prognostication, especially in resource-limited settings where liver transplantation is not readily available.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251359976"},"PeriodicalIF":1.3,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comment on \"Differences in Placental Pathologic Features by Trimester of Infection with SARS-CoV-2\".","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkit","doi":"10.1177/10935266251357787","DOIUrl":"https://doi.org/10.1177/10935266251357787","url":null,"abstract":"","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251357787"},"PeriodicalIF":1.3,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144747051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sze Jet Aw, Yingting Mok, Khurshid Merchant, Shiela Ramos, Robert Siddaway, Jian Yuan Goh, Amos Hong Pheng Loh, Kenneth Tou En Chang
{"title":"<i>H3F3A</i> K36M-mutant Epithelioid Neoplasm: A Report of Two Novel Cases of a Non-chondrogenic H3K36-altered Mesenchymal Tumor.","authors":"Sze Jet Aw, Yingting Mok, Khurshid Merchant, Shiela Ramos, Robert Siddaway, Jian Yuan Goh, Amos Hong Pheng Loh, Kenneth Tou En Chang","doi":"10.1177/10935266251357098","DOIUrl":"https://doi.org/10.1177/10935266251357098","url":null,"abstract":"<p><strong>Background: </strong>Identifying the genetic signatures in bone and soft tissue tumors enhances our understanding of tumor biology and aids in the subclassification of tumors for personalized treatment. Histone H3.3 alterations play a pivotal role in <i>H3F3A/B</i> K36M-mutant chondroblastomas and <i>H3F3A</i> G34W/L-mutant giant cell tumors of the bone.</p><p><strong>Methods and results: </strong>In this report, we describe 2 cases of a distinct epithelioid neoplasm with <i>H3F3A</i> K36M mutation but lacking features of chondroblastoma, which extends the spectrum of H3.3-mutant mesenchymal tumors. The 2 cases occurred in pediatric patients, had an aggressive clinical presentation, distinct epithelioid histomorphology with diffuse cytokeratin and TFE3 expression, and identical <i>H3F3A</i> K36M mutations. No gene fusions were identified. Methylation analysis using the DKFZ sarcoma classifier v12.3 pipeline did not classify these tumors with known entities, suggesting the existence of non-chondrogenic mesenchymal tumors within the H3.3-mutant tumor spectrum.</p><p><strong>Conclusions: </strong>The distinctive histological and molecular features of these 2 cases expand the spectrum of H3.3-mutant tumors and call for further investigation of the biological underpinnings of this group of tumors.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251357098"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144693127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"\"What the Mind Does Not Know, the Eye Does Not See\": Epididymal Melanotic Neuroectodermal Tumor of Infancy Misdiagnosed as Paratesticular Rhabdomyosarcoma-A Rare Case Report.","authors":"Neha Bakshi, Seema Rao, Manas Kalra, Shashi Dhawan, Laksita Joshi, Sonia Badwal","doi":"10.1177/10935266251355755","DOIUrl":"https://doi.org/10.1177/10935266251355755","url":null,"abstract":"<p><p>Extra-testicular scrotal masses may be seen in young children, spanning a broad spectrum of lesions from benign entities to aggressive malignancies. Though rare, melanotic neuroectodermal tumor of infancy (MNTI) is a very important differential diagnosis of scrotal masses in infants due to its close histologic resemblance to more aggressive malignant small round cell tumors involving this region. An 18-month-old baby presented with a 10-month history of a scrotal mass, which was surgically excised and initially misdiagnosed as rhabdomyosarcoma, with a plan for post operative chemotherapy. Histopathologic review at our institute, with immunohistochemical support led to the correct diagnosis of MNTI, thus avoiding unnecessary chemotherapy. Morphologic findings and detailed differential diagnosis of this rare tumor are discussed.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251355755"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Veronique Schiffer, Ina Thijs, Salwan Al-Nasiry, Stijn van Teeffelen, Carmen Severens-Rijvers
{"title":"Umbilical Vessel Aneurysm Presenting a Large Placental Cyst: A Unique Case and Literature Review.","authors":"Veronique Schiffer, Ina Thijs, Salwan Al-Nasiry, Stijn van Teeffelen, Carmen Severens-Rijvers","doi":"10.1177/10935266251352897","DOIUrl":"https://doi.org/10.1177/10935266251352897","url":null,"abstract":"<p><p>We present a unique case of a 33-year-old gravida that was referred to our hospital with an umbilical vessel aneurysm presenting as a large placental cyst on ultrasound. Although the 20-week anomaly scan showed no structural abnormalities, routine fetal biometry scanning at 30 weeks of gestation revealed an abnormal placental cystic structure, located subchorionic under the umbilical cord insertion. Given the uncertainty of the origin of the structure's origin and its unpredictable evolution with possible adverse effect on the fetus, a cesarean section was performed delivering a healthy baby. Histopathological examination of the placenta showed an aneurysmal vein with thinning of the vessel wall and fragmented smooth muscle. Umbilical cord aneurysm represents an exceptionally rare placental anomaly, with umbilical vein aneurysms being associated with variable fetal mortality rates, ranging from those observed in uncomplicated pregnancies to 82% in documented cases. Therefore, a multidisciplinary approach is essential to optimize fetal outcomes.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251352897"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ozlem Sumer Cosar, Hakan Öztürk, Deniz Gezgin Yıldırım, Batuhan Küçükali, Buket Dalgıç, Ödül Eğritaş Gürkan
{"title":"Childhood Lupus-Associated Protein-Losing Enteropathy (LUPLE): A Case Report and Review of the Literature.","authors":"Ozlem Sumer Cosar, Hakan Öztürk, Deniz Gezgin Yıldırım, Batuhan Küçükali, Buket Dalgıç, Ödül Eğritaş Gürkan","doi":"10.1177/10935266251349494","DOIUrl":"10.1177/10935266251349494","url":null,"abstract":"<p><p>Protein-losing enteropathy (PLE) is a rare condition characterized by clinical findings such as edema, ascites, pleural effusion, and diarrhea due to excessive protein loss from the gastrointestinal system. Although systemic lupus erythematosus (SLE) is rare in childhood, PLE can be the first presenting feature; this condition is referred to as lupus-associated protein-losing enteropathy (LUPLE). Protein-losing enteropathy (PLE) is an uncommon condition resulting from excessive protein loss in the gastrointestinal system. Our case shows that PLE can be the initial presentation of SLE, which is a rare manifestation in childhood. PLE, a rare complication of lupus, tends to be more severe in children, and the diagnostic process can be challenging. This case report presents a 7-year-old girl who presented with abdominal distension, generalized edema, chronic diarrhea, and weakness. Despite treatment, the recurrence of symptoms and the addition of new joint findings led to further investigations, which revealed positive anti-dsDNA and low complement levels, resulting in a diagnosis of systemic lupus erythematosus. The patient's clinical condition improved with steroid, azathioprine, and hydroxychloroquine treatments. This case highlights the importance of considering SLE in the differential diagnosis of PLE and underscores the significance of recognizing the rare presentations of childhood lupus.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266251349494"},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Author(s)' Reply - Vitelline Vessel Remnant - Derived Funisitis: Semantics, Severity, and Significance.","authors":"James R Wright, Weiming Yu, Lawrence de Koning","doi":"10.1177/10935266221113450","DOIUrl":"https://doi.org/10.1177/10935266221113450","url":null,"abstract":"The authors thank Dr. Hatano for his letter to the editor in response to our paper, as this creates an opportunity for further dialog on an entity which appeared as a surprising finding in another paper on vitelline vessel remnants (VVRs); in that paper, acute inflammation arising from VVRs was seen in 70.3% of 37 cords with VVRs; cord cross-sections were stained with both H&E and CD15 immunostains and a complex grading/staging system was utilized to characterize the scope and distribution of infiltrates. When writing a follow-up paper which described two primary patterns of fetal circulation within VVRs, 70 new cases of cords with VVRs were studied and, as mentioned in the current paper, these same 70 cases were used in the study currently under discussion. Having found no advantage to CD15 immunostaining, we developed a simpler, H&E-based low vs high grade/stage system in the current paper. Some of the ”basic information” that Hatano describes as “missing” is provided in the longer paper using the same 70 cases. Other requested information is clinical and, since our study was purely histological, we did not have access to this information – nor was it needed to make our histological observations. Hatano et al. recently published a new CD15immunostain-based classification system for neutrophilic responses in umbilical cords. Overall, their method is highly resource-intensive, but we will focus only on the portion of their study related to VVR inflammation; they concluded the presence of CD15+ cells surrounding VVRs has “no clinical or pathological relevance ... as per statistical analysis.” Such a definitive statement cannot be justified after comparing groups with sample sizes of 3 (cases without vitelline vasculitis) and 19 (cases with vitelline vasculitis). According to their online Supplemental Table 2, only 3 of 22 placentas with VVRs also showed histologic evidence of acute chorioamnionitis; interestingly, all 3 cords had vitelline vasculitis and all cases with the presence of both a VVR and chorioamnionitis showed vitelline vasculitis. In our 4-fold larger study, we found VVR-derived funisitis had a sensitivity of 88% and specificity of 100% for histological evidence of amniotic fluid infection (AFI) in third-trimester placentas. Many of their clinical indicators that could logically be affected by AFI showed a supportive trend. Incidence of threatened premature delivery, frequency of threatened abortion, bacterial vaginosis, premature rupture of membranes, and elevated median maternal C-reactive protein were all higher among cases with vitelline vasculitis. Regardless, their “vitelline vasculitis” does not fully overlap with our “VVR-derived funisitis.” Hatano et al. relied upon CD15-staining, which is both too sensitive and not specific (figure). It should be noted that antibodies to CD15 also stain CD68+ macrophages, which are present in Wharton’s jelly, especially in the vicinity of VVRs. Figure 3 of their paper shows a paired VVR sur","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"572-573"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40585391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Saeeda Almarzooqi, Miguel Reyes-Múgica, Bassam R Ali, Aya Habbal, Mohammad J Asha, Eman T AlShamsi
{"title":"Congenital Teratocarcinosarcoma With <i>CTNNB1</i> Gene Mutation Presenting as an Ocular Mass.","authors":"Saeeda Almarzooqi, Miguel Reyes-Múgica, Bassam R Ali, Aya Habbal, Mohammad J Asha, Eman T AlShamsi","doi":"10.1177/10935266221111127","DOIUrl":"https://doi.org/10.1177/10935266221111127","url":null,"abstract":"<p><p>Teratocarcinosarcoma is an extremely rare malignancy of the nasal cavity and paranasal sinuses. It exhibits both sarcomatous and carcinomatous components. Less than 100 cases are reported. It presents in adults with only two reported cases in infancy. Here we present a case of 3-week-old female with antenatally detected ocular mass. MRI revealed an exophytic right ocular mass (10 × 7.0 × 7.0 cm) with intracranial extension. The tumor consisted of malignant glands and mesenchymal elements of undifferentiated blastema-like cells and immature neuroepithelium. After an initial diagnosis and treatment for a Wilms tumor protocol, the mass showed no response. A second opinion rendered a diagnosis of sinonasal teratocarcinosarcoma. The patient underwent surgical resection and seven cycles of CNS ICE chemotherapy. A second debulking surgery revealed a very scant viable tumor with post-treatment changes. The patient is alive at 43 months on weekly vincristine maintenance. Molecular testing revealed a somatic <i>CTNNB1</i> gene mutation. In conclusion, this is a rare and aggressive tumor which showed disease free survival beyond that reported in the literature with the appropriate use of multimodality therapy.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"562-567"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40194339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}