Pediatric and Developmental Pathology最新文献

Validation of a Recently Proposed Histologic Grading System (The Farooq Grade) for Colonic Graft-Versus-Host Disease in the Pediatric Population.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-04-04 DOI: 10.1177/10935266251330159

Ahmad Alkashash, Sruthi Bhamidipalli, Benjamin J Wilkins, Omer A Saeed, Iván A González

{"title":"Validation of a Recently Proposed Histologic Grading System (The Farooq Grade) for Colonic Graft-Versus-Host Disease in the Pediatric Population.","authors":"Ahmad Alkashash, Sruthi Bhamidipalli, Benjamin J Wilkins, Omer A Saeed, Iván A González","doi":"10.1177/10935266251330159","DOIUrl":"https://doi.org/10.1177/10935266251330159","url":null,"abstract":"Background: Colonic graft-versus-host disease (GVHD) is rare in children. The goal of this study was to evaluate the Lerner and the Farooq grade in pediatric patients.Methods: Retrospective multicenter study including all biopsies with a diagnosis of GVHD.Results: 101 patients were included (median age: 8.9 years) with a male predominance (59%). 71% of patients had extracolonic GVHD. 98% and 54% of cases had apoptotic bodies and >6 apoptotic bodies, respectively. Crypt dropout was seen in 53% of cases and ulceration in 19%. Using the Lerner grade, 47% of cases were grade 1, 13% grade 2, 20% grade 3 and 20% grade 4; and using the Farooq grade, 35% were indeterminate for GVHD, 25% low, 27% intermediate and 14% high grade. There was moderate agreement (K = 0.47) between the system. 67% of the Lerner grade 1 cases were considered indeterminate for GVHD using the Farooq grade. No difference was seen with GVHD-related death and the grading systems. GVHD-related death was associated with extraintestinal involvement (P = .04), and with treatment response (P < .01).Conclusions: Although neither system was associated with GVHD-related death, given the more comprehensive approach, the authors suggest utilizing the Farooq grading system.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251330159"},"PeriodicalIF":1.3,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143782046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-31 DOI: 10.1177/10935266251330174

Elif Habibe Aktekin, Orhan Görükmez, Umid Sulaimanov, Şenay Demir Kekeç, Ayşe Erbay, Nalan Yazıcı

{"title":"Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series.","authors":"Elif Habibe Aktekin, Orhan Görükmez, Umid Sulaimanov, Şenay Demir Kekeç, Ayşe Erbay, Nalan Yazıcı","doi":"10.1177/10935266251330174","DOIUrl":"https://doi.org/10.1177/10935266251330174","url":null,"abstract":"Osteopetrosis is a rare metabolic bone disease that can lead to progressive bone marrow failure if left untreated. Resulting cytopenia and extramedullary hematopoiesis are frequently encountered in autosomal recessive form of the disease (ARO) and may result in death. Recurrent bone fractures and skeletal deformities are mostly seen in autosomal dominant form osteopetrosis (ADO) and cause significant morbidity. In this report, clinical, laboratory, and radiological findings of 5 patients with osteopetrosis were presented. Three had cytopenias, typical peripheral smear, and bone marrow aspiration findings regarding bone marrow failure as well as extensively increased bone density which was a classical radiological appearance. Two of them had TCIRG1 mutations associated with ARO, died because of severe infections. One with certain findings of ARO without genetic analysis is alive after hematopoietic stem cell transplantation. Two siblings had novel variants of CLCN7 (NM_001114331) p.Val755Serfs*4 (c.2263del) heterozygocity, associated with ADO and severe skeletal problems. One had been followed up also for nephrotic syndrome. Detection of genetic abnormalities is important as well as typical physical examination findings and, presence of hematological or radiological indicators in definitive diagnosis of the disease. Although osteopetrosis is rare, it is a potentially fatal disease that should be considered in the differential diagnosis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251330174"},"PeriodicalIF":1.3,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluating Bone Marrow Involvement in Pediatric Neuroblastoma: Traditional Methods and Emerging Technologies-A Systematic Review.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-30 DOI: 10.1177/10935266251325632

Lavleen Singh, Venkateswaran K Iyer, Nishikant A Damle, Jagdish Meena, Rachna Seth, Aditya Gupta, Aanchal Kakkar, Kanika Rastogi, Chandrasekaran Ganapathy

{"title":"Evaluating Bone Marrow Involvement in Pediatric Neuroblastoma: Traditional Methods and Emerging Technologies-A Systematic Review.","authors":"Lavleen Singh, Venkateswaran K Iyer, Nishikant A Damle, Jagdish Meena, Rachna Seth, Aditya Gupta, Aanchal Kakkar, Kanika Rastogi, Chandrasekaran Ganapathy","doi":"10.1177/10935266251325632","DOIUrl":"https://doi.org/10.1177/10935266251325632","url":null,"abstract":"Neuroblastoma (NB) is the most common extracranial solid neoplasm affecting the pediatric population. It shows a high prevalence of bone marrow infiltration (BMI), which substantially impacts the disease's staging and prognostic assessment. Conventional methodologies, including bone marrow biopsy (BMB) and aspirate (BMA), have been extensively employed; nevertheless, the advent of novel technologies presents a promising avenue for diagnostic accuracy. This systematic review is designed to critically analyze and compare the established techniques (BMB and BMA) versus novel diagnostic approaches-such as immunocytology, RT-qPCR, and multiparametric flow cytometry (FCM), along with functional imaging like MIBG scintigraphy and FDG-PET/CT-in assessing BMI in pediatric NB. An exhaustive search was performed across the PubMed and Embase databases, identifying 2694 scholarly articles. Following a meticulous screening process and the application of inclusion criteria centered on diagnostic accuracy, sensitivity, and specificity about BMI, a total of 140 articles were selected for qualitative analysis. While BMB remains the gold standard for diagnosing and staging BMI in NB, recent advances in molecular techniques and functional imaging have shown superior sensitivity and specificity. Immunocytology and RT-qPCR can detect minimal residual disease (MRD) with higher sensitivity compared to traditional methods. Functional imaging modalities, particularly FDG-PET/CT and MIBG scintigraphy, have demonstrated improved accuracy in assessing bone marrow involvement with the added advantage of evaluating the entire bone marrow, overcoming the limitations of focal sampling in BMB. The integration of advanced molecular diagnostics and functional imaging with traditional biopsy methods enhances the accuracy of BMI in NB.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251325632"},"PeriodicalIF":1.3,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Rare Association of Celiac Disease and Aplastic Anemia.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-29 DOI: 10.1177/10935266251330162

Tatiana Moreira, Diana Simões, Fátima Ferreira, Eunice Trindade, Irene Carvalho

{"title":"A Rare Association of Celiac Disease and Aplastic Anemia.","authors":"Tatiana Moreira, Diana Simões, Fátima Ferreira, Eunice Trindade, Irene Carvalho","doi":"10.1177/10935266251330162","DOIUrl":"https://doi.org/10.1177/10935266251330162","url":null,"abstract":"Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten in genetically predisposed individuals. Association of CD and aplastic anemia (AA) has been reported in the literature, yet this association remains rare in children. The authors report a case of a previously healthy 4-year-old boy with 1-month history of diarrhea, asthenia, loss of appetite, and weight loss. Laboratory evaluation showed bicytopenia with very severe aregenerative anemia and neutropenia. Bone marrow aspirate and biopsy were performed with findings suggestive of bone marrow aplasia. Further etiological research showed IgA deficiency and increased plasma concentrations of anti-tissue transglutaminase IgG antibodies (anti-tTG IgG 336 U/mL). Patient underwent upper digestive endoscopy confirming diagnosis of CD. The child started a gluten-free diet (GFD) with subsequent clinical and serological improvement. At 12-month post-hospitalization follow-up, the child was asymptomatic, with normal growth rate, resolution of bicytopenia, and anti-tTG IgG lower but still positive (151 U/ml) due to partial adhesion to GFD. To the best of author's knowledge, this is the eighth published pediatric case describing the association of CD with AA. The pathogenesis of this association is not yet fully understood. The authors suggest that CD screening should be considered in patients with unexplained hematological abnormalities.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251330162"},"PeriodicalIF":1.3,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Glypican-3 Staining in Non-Neoplastic Liver in 2 Pediatric Cases: A Potential Diagnostic Pitfall.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-29 DOI: 10.1177/10935266251331191

Qian Wang, Catherine K Gestrich

引用次数: 0

Liver Transplantation in 3 Cholestatic Infants With History of COVID Exposure.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-28 DOI: 10.1177/10935266251325335

Shruti Sakhuja, Kalyani R Patel, Matthew Goss, Flor M Munoz, Garrett Wortham, Megan Crawford, John A Goss, Nhu Thao Galvan

{"title":"Liver Transplantation in 3 Cholestatic Infants With History of COVID Exposure.","authors":"Shruti Sakhuja, Kalyani R Patel, Matthew Goss, Flor M Munoz, Garrett Wortham, Megan Crawford, John A Goss, Nhu Thao Galvan","doi":"10.1177/10935266251325335","DOIUrl":"https://doi.org/10.1177/10935266251325335","url":null,"abstract":"The COVID-19 pandemic presents several challenges during pregnancy including thromboembolic complications, direct placental infection, transplacental transmission, and systemic hyperinflammatory state. The liver is the second most commonly affected organ in SARS-CoV-2 infection after the lungs. Mechanisms of liver injury in COVID-19 patients can include: direct viral cytopathic effect, worsening of underlying liver disease, cytokine storm, hypoxic ischemic injury, and cholangiopathy leading to persistent marked cholestasis. Here we describe 3 infants at Texas Children's Hospital with perinatal SARS-CoV-2 exposure with persistent cholestasis and histologic evidence of extrahepatic biliary obstruction suggesting underlying biliary atresia (BA) with some atypical features possibly exacerbated by SARS-CoV-2 infection. All 3 patients described in this case series developed liver failure in the setting of low GGT cholestasis, and all 3 required liver transplantation within the first year of life. Though post-COVID cholangiopathy is described in adults in the literature, none of the infants in our series had moderate or severe COVID infection but still progressed to advanced liver disease. Instead it is very likely that the patients in our series had underlying BA with some atypical features, with the commonality of having been exposed perinatally to SARS-CoV-2 Though further studies are needed to determine causality, our case series raises the question of if the timing of exposure/infection plays a role in prognosis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251325335"},"PeriodicalIF":1.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Oral Mucosal Calcified Nodule: Report of a Case and Review of the Literature.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-28 DOI: 10.1177/10935266251325064

Yasmin Ludianski, Denise A Trochesset, Arthi Kumar

引用次数: 0

Classic Hodgkin Lymphoma With Primary Presentation as Lytic Bone Lesions and Pancytopenia: Report of a Pediatric Case and Review of Literature. 原发表现为溶解性骨病变和全血细胞减少的典型霍奇金淋巴瘤：一例儿科病例的报告和文献综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-15 DOI: 10.1177/10935266251326216

Jacob Christofi, Roopa Kodimyala, Summit Shah, Samir B Kahwash

引用次数: 0

Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association. 左心发育不全综合征伴15q11.2 BP1-BP2微缺失的右冠状动脉异常起源：一种新的关联

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-17 DOI: 10.1177/10935266241304856

Ibrahim Melik, Diane G Brackett, Stephen P Sanders, Chrystalle Katte Carreon

引用次数: 0

Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient. 青春期前患者SH3PXD2A::HTRA1基因融合的神经鞘瘤的临床和病理特征

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-24 DOI: 10.1177/10935266241308946

Aida Glembocki, Robert Siddaway, Anthony Arnoldo, Molly Jakeman, Anthea Lafreniere

{"title":"Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient.","authors":"Aida Glembocki, Robert Siddaway, Anthony Arnoldo, Molly Jakeman, Anthea Lafreniere","doi":"10.1177/10935266241308946","DOIUrl":"10.1177/10935266241308946","url":null,"abstract":"An 11-year-old girl presented with a soft tissue lesion on the dorsal aspect of the left middle finger. Ultrasound imaging demonstrated a 2.8 cm × 0.8 cm × 0.8 cm lesion overlying the dorsal aspect of the base of the digit near the metacarpophalangeal joint. The patient's past medical history is remarkable for neuroblastoma, diagnosed at 9 months of age, with no MYCN amplification or 1p loss. We report a pediatric schwannoma harbouring a SH3PXD2A::HTRA1 gene fusion with a distinctive serpentine histology. The lesion consisted of well-circumscribed nodules surrounded by thin EMA-positive perineural capsules. Each nodule was composed of lesional cells arranged in short fascicles with occasional clefting and a distinct \"serpentine\" palisading pattern. The lesion demonstrated Antoni A regions with Verocay body formation. No significant Antoni B areas were seen. The lesional Schwannian cells were bland with elongated and tapered nuclei, showing strong and diffuse positivity for S100. This pre-pubescent girl (Tanner Stage 2) is currently the youngest reported case of fusion-positive schwannoma. In addition, she has a significant prior history of a malignant neoplasm, and the lesion arose in an appendicular location.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"137-141"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0