Pediatric and Developmental Pathology最新文献

Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings. 原发性肺发育不全合并先天性肺泡发育不良与TBX4基因缺失相关：一例尸检和分子发现。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-02-26 DOI: 10.1177/10935266251322326

Evelyn O Ilori, Christine Kahlow, Rolando Garcia, Syed Ahmed, Charles Timmons, Tetyana H Nesterenko

{"title":"Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings.","authors":"Evelyn O Ilori, Christine Kahlow, Rolando Garcia, Syed Ahmed, Charles Timmons, Tetyana H Nesterenko","doi":"10.1177/10935266251322326","DOIUrl":"10.1177/10935266251322326","url":null,"abstract":"Acute respiratory distress in a neonate is a potentially critical condition with multiple possible causes. Developmental etiologies are particularly problematic by virtue of being refractory to routine modalities for enhancing ventilation and oxygen exchange. Some genetic causes of neonatal respiratory distress, such as surfactant protein deficiencies and alveolar capillary dysplasia with misalignment of pulmonary veins, are well known, and sequencing panels have been formulated to detect them. We present a case of fatal neonatal respiratory insufficiency in which the autopsy showed primary pulmonary hypoplasia and congenital alveolar dysplasia. A sequencing panel of genes associated with heritable pulmonary disorders gave a normal result; however, a chromosomal microarray identified a heterozygous deletion encompassing the TBX4 gene on chromosome 17. Haploinsufficiency for TBX4 is a known cause of disturbed pulmonary development. This case illustrates why work-up of pulmonary developmental disorders must look beyond standard sequencing panels in some instances, if rare causes of pulmonary maldevelopment such as deletions causing haploinsufficiency are not to be missed.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"300-303"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143506034","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

Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series. 骨髓衰竭的罕见原因：骨质疏松症，病例系列。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub 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":"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":"326-332"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","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

Validation of a Recently Proposed Histologic Grading System (The Farooq Grade) for Colonic Graft-Versus-Host Disease in the Pediatric Population. 最近提出的儿科人群结肠移植物抗宿主病组织学分级系统（Farooq分级）的验证。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub 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":"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":"253-263"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","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

Mediastinal NUT Carcinoma With Raised Serum Alpha-Fetoprotein Mimicking a Malignant Germ Cell Tumor: Suspicion Raised Due to Negative Serum miR-371a-3p Levels. 血清α -胎蛋白升高与恶性生殖细胞肿瘤相似的纵隔NUT癌：血清miR-371a-3p水平阴性引起怀疑

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-04-25 DOI: 10.1177/10935266251335391

Sheng-Yuan Kan, Cinzia G Scarpini, Dawn Ward, Ben Fleming, Heok K Cheow, Ibrahim Jalloh, John A Tadross, James Watkins, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Nicholas Coleman, C Elizabeth Hook, Charlotte Burns, Claire Trayers, Matthew J Murray

{"title":"Mediastinal NUT Carcinoma With Raised Serum Alpha-Fetoprotein Mimicking a Malignant Germ Cell Tumor: Suspicion Raised Due to Negative Serum miR-371a-3p Levels.","authors":"Sheng-Yuan Kan, Cinzia G Scarpini, Dawn Ward, Ben Fleming, Heok K Cheow, Ibrahim Jalloh, John A Tadross, James Watkins, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Nicholas Coleman, C Elizabeth Hook, Charlotte Burns, Claire Trayers, Matthew J Murray","doi":"10.1177/10935266251335391","DOIUrl":"10.1177/10935266251335391","url":null,"abstract":"NUT carcinoma is challenging to diagnose and may mimic a germ cell tumor (GCT) due to raised serum alpha-fetoprotein (AFP). A 15-year-old patient presented with back pain and cough. Investigation revealed a mediastinal mass and multiple bone metastases. Serum AFP was highly elevated, consistent with a metastatic malignant nonseminomatous GCT. Aggressive chemotherapy was initiated with initial response, unfortunately not sustained. Diagnostic biopsy showed undifferentiated tumor cells with weak GCT immunophenotype but was ultimately non-diagnostic. Serum miR-371a-3p levels, highly sensitive/specific for malignant GCTs, were negative casting diagnostic suspicion. Routine use of agnostic molecular investigations, including whole genome sequencing, identified a chromosome 15:19 translocation, with BRD4::NUTM1 gene fusion on RNA sequencing, confirming NUT carcinoma. Subsequent NUTM1 immunohistochemistry was positive. A high index of clinical suspicion is required for non-pathologically/molecularly confirmed diagnoses. Serum miR-371a-3p quantification ruled out malignant GCT and routine agnostic molecular studies identified the correct diagnosis; a low threshold for NUTM1 immunohistochemistry is thus recommended.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"338-345"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057941","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

A Case of Acute Hemorrhagic Necrotizing Encephalitis in the Neonatal Period: Case Report with Autopsy Findings. 新生儿期急性出血性坏死性脑炎1例：附尸检报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-02-13 DOI: 10.1177/10935266251319093

Nkechi Okotcha, Nicholas Guerina, Suzanne de la Monte, Rachit Patil

{"title":"A Case of Acute Hemorrhagic Necrotizing Encephalitis in the Neonatal Period: Case Report with Autopsy Findings.","authors":"Nkechi Okotcha, Nicholas Guerina, Suzanne de la Monte, Rachit Patil","doi":"10.1177/10935266251319093","DOIUrl":"10.1177/10935266251319093","url":null,"abstract":"Acute necrotizing encephalopathy (ANE) is a rare immune-mediated disease in children that could progress rapidly, and lead to significant morbidity or mortality. ANE's diagnostic challenges render it difficult to recognize and treat in a timely and effective manner. Although infantile-onset cases have been reported, the presentation of ANE in preterm neonates has not been described. Herein, we report a case of a preterm newborn who had a relatively stable clinical course in the first week of life, after which the neonate exhibited sudden deterioration due to progressive encephalopathy with refractory status epilepticus. Despite aggressive management of seizures and sepsis, the patient succumbed. Whole-exome sequencing analyses of the patient and parents were negative. Viral and metabolic testing were non-contributory. An autopsy showed evidence of acute to subacute fulminant liquefactive necrosis with extensive hemorrhage diffusely in the cortex with relative sparing of the cerebellum and the brainstem. A major consideration highlighted by this case is that the adaptive immune response to the immune-mediated or cytokine storm-related proposed etiology of acute necrotizing encephalopathy may differ in preterm compared with full-term infants due to properties dictated by their innate immune responses. Clinical suspicion of ANE should be heightened whenever preterm neonates with early sepsis continue to deteriorate despite aggressive management.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"281-287"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411406","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

The Histological Spectrum of DICER1-Associated Neoplasms. dicer1相关肿瘤的组织学谱。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-04-15 DOI: 10.1177/10935266251329752

Alessia Capozzi, Floor A Jansen, Stephanie E Smetsers, Jette J Bakhuizen, Laura S Hiemcke-Jiwa, Mariëtte E G Kranendonk, Uta Flucke, Rita Alaggio, Ronald R de Krijger

{"title":"The Histological Spectrum of DICER1-Associated Neoplasms.","authors":"Alessia Capozzi, Floor A Jansen, Stephanie E Smetsers, Jette J Bakhuizen, Laura S Hiemcke-Jiwa, Mariëtte E G Kranendonk, Uta Flucke, Rita Alaggio, Ronald R de Krijger","doi":"10.1177/10935266251329752","DOIUrl":"10.1177/10935266251329752","url":null,"abstract":"DICER1 syndrome is a heterogeneous cancer predisposition syndrome, characterized by a large variety of benign and malignant tumor types, and caused by germline heterozygous pathogenic variants in the DICER1 gene, which is essential in miRNA processing and RNA interference. The clinical manifestations are diverse, with pleuropulmonary blastoma, Sertoli-Leydig cell tumor, cystic nephroma, uterine cervical embryonal rhabdomyosarcoma, and thyroid follicular nodular disease being the most prevalent tumor types. Since these neoplasms are rare and particularly occur in the pediatric population, pathologists should be aware of the potential relationship of these tumors with an underlying DICER1 syndrome in order to perform or suggest additional molecular pathologic analysis and refer patients and their parents for genetic counseling and testing. This review describes the various DICER1-related tumor types with emphasis on the histological features, reflects on the molecular pathogenesis of DICER1, and aims to raise awareness of this syndrome to facilitate earlier diagnosis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"231-243"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058327","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. 乳糜泻和再生障碍性贫血的罕见关联。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub 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":"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":"321-325"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","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

Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease. 结节性再生增生是枫糖尿病患者的常见发现。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-04-17 DOI: 10.1177/10935266251333007

Yuan Shui, Yipeng Geng, Bita V Naini, Hanlin L Wang

{"title":"Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease.","authors":"Yuan Shui, Yipeng Geng, Bita V Naini, Hanlin L Wang","doi":"10.1177/10935266251333007","DOIUrl":"10.1177/10935266251333007","url":null,"abstract":"Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder characterized by deficiency of branched-chain α-keto acid dehydrogenase complex. The affected patients can experience severe metabolic intoxication and encephalopathy in the first few years of life. Liver transplantation is an effective long-term treatment. There has been a lack of histologic description of explanted livers from MSUD patients in the literature.Methods: A search of the medical record system was performed for cases carrying a diagnosis of MSUD between January 2003 and May 2024. Eight patients who underwent liver transplantation were identified. Their explanted livers were evaluated and their medical records were extensively reviewed.Results: The weights of explanted livers were within normal range for patients' age. Histologic examination demonstrated features of nodular regenerative hyperplasia (NRH) in 5 (62.5%) liver explants. Other histologic findings included minimal to mild lymphocytic portal inflammation seen in 6 cases and mild steatosis in 2 cases. A detailed review of clinical histories revealed no signs of portal hypertension or specific underlying conditions conducive to NRH development.Conclusion: NRH is a frequent histologic finding in explanted livers from MSUD patients, although the underlying etiopathogenesis and clinical implication remain to be elucidated.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"273-280"},"PeriodicalIF":1.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040029","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

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature. 线粒体神经胃肠道脑肌病（MNGIE）表型与独特的复合杂合子 POLG 变异有关：病例展示与文献综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-02-21 DOI: 10.1177/10935266251321317

Laura S Finn, Amy Goldstein, Holly L Hedrick

引用次数: 0

Neuropathologic Findings in Mowat-Wilson Syndrome at Autopsy, Including a Suprasellar Spindle Cell Lipoma. 尸检莫瓦特-威尔逊综合征的神经病理学发现，包括鞍上梭形细胞脂肪瘤。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-04-24 DOI: 10.1177/10935266251331266

Couger Jimenez Jaramillo, Andrew Berman, Jesse Fitzgerald, Robert Brady, Thomas Adams, Nathan Clement

引用次数: 0