Pediatric and Developmental Pathology最新文献_第7页

Pediatric Rectosigmoid Atypical Juvenile Polyps Presenting With Rectal Prolapse and Acute Bleeding: A Case Report and a Comprehensive Literature Review. 小儿直肠乙状结肠非典型幼年息肉伴直肠脱垂和急性出血：病例报告和文献综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266241235383

Javier Arredondo Montero, Elena Carracedo Vega, Socorro Razquin Lizarraga, Mónica Bronte Anaut, Sara Hernández-Martín, Gina de Lima Piña, Rosa Guarch Troyas

引用次数: 0

Author(s)' Reply: Is MYCN Overexpression Associated With Poor Outcome in MYCN Non-Amplified Neuroblastomas? 作者回复：MYCN过表达与MYCN非扩增神经母细胞瘤的不良预后有关吗？

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-02-15 DOI: 10.1177/10935266231221898

Manli Zhao, Yan Shu, Weizhong Gu, Hongfeng Tang, Jianhua Mao

引用次数: 0

Gastrointestinal Tract Granular Cell Tumor in the Pediatric Population: A Multicenter Experience. 儿科胃肠道颗粒细胞瘤：多中心经验。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-05 DOI: 10.1177/10935266231220472

Muhammad Shaheen, Benjamin J Wilkins, Archana Shenoy, Kathleen Byrnes, Xiaoyi Tina Zhang, Iván A González

{"title":"Gastrointestinal Tract Granular Cell Tumor in the Pediatric Population: A Multicenter Experience.","authors":"Muhammad Shaheen, Benjamin J Wilkins, Archana Shenoy, Kathleen Byrnes, Xiaoyi Tina Zhang, Iván A González","doi":"10.1177/10935266231220472","DOIUrl":"10.1177/10935266231220472","url":null,"abstract":"Background: Pediatric granular cell tumors (GCT) involving the gastrointestinal tract (GIT) are rare with limited case report/series reported to date.Methods: Multicenter retrospective study of pediatric GIT GCT.Results: A total of 10 cases were included in the study with a median age of 13.5 years (range: 7-18 years) and were predominantly female patients (60%). In half of the patients no significant medical history was present with the remaining 5 having Crohn disease (10%), eosinophilic esophagitis (EoE) (10%), Crohn disease and EoE (10%), growth hormone deficiency (10%), and aplasia cutis congenita (10%). The GCT median size was 1.3 cm (range: 1-1.6 cm) and were more commonly located in the esophagus (70%) followed by the stomach (20%) and rectum (10%). Most of the cases showed round/polygonal tumor cells with abundant granular cytoplasm, and none of the cases had nuclear atypia, increased mitotic activity, or tumor cell necrosis. None of our cases received specific therapy for GCT other than clinical follow-up, and none of the patients had evidence of local recurrence or metastatic disease.Conclusion: We present our multicenter experience with GIT GCT, all cases had a benign course. Interestingly, 4 of the esophageal GCT cases (including 2 patients with EoE) showed an eosinophil-rich esophagitis in the underlying mucosa.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"211-217"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139099149","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

Mullerian Serous Cystadenoma Occurring in the Scrotum Post-Orchidopexy: A Rarely Reported Yet Distinctive Entity. 睾丸切除术后阴囊内发生的穆勒氏浆液性囊腺瘤：一种罕见但独特的实体。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-04 DOI: 10.1177/10935266231221029

Benjamin Champion, Tiffany Foo, Colin Kikiros, Adrian Charles

引用次数: 0

Is MYCN Overexpression Associated With Poor Outcome in MYCN Non-Amplified Neuroblastomas? MYCN 过度表达与 MYCN 非扩增神经母细胞瘤的不良预后有关吗？

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-02-15 DOI: 10.1177/10935266231222321

Alicia Andrews, Jefferson Terry

引用次数: 0

Hidden Coronary Artery Ostium and Sudden Death. 隐藏的冠状动脉骨膜与猝死

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-14 DOI: 10.1177/10935266231221710

Luzern Tan, Karen Heath, Roger W Byard

引用次数: 0

Granulomas in Pediatric Liver Biopsies: Single Center Experience. 小儿肝活检中的肉芽肿：单中心经验。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-14 DOI: 10.1177/10935266231221908

Muhammad Shaheen, Guang-Sheng Lei, Ryan F Relich, Chaowapong Jarasvaraparn, Kyla M Tolliver, Jean P Molleston, Iván A González

{"title":"Granulomas in Pediatric Liver Biopsies: Single Center Experience.","authors":"Muhammad Shaheen, Guang-Sheng Lei, Ryan F Relich, Chaowapong Jarasvaraparn, Kyla M Tolliver, Jean P Molleston, Iván A González","doi":"10.1177/10935266231221908","DOIUrl":"10.1177/10935266231221908","url":null,"abstract":"Background: Granulomas in pediatric liver biopsies (GPLB) are rare with the largest pediatric cohort reported over 25 years ago.Methods: Single-center retrospective study of GPLB.Results: Seventeen liver biopsies from 16 patients with granulomas were identified (9 boys, 56%) with a median age of 13 years (range: 1-18) for which the most common indication was the presence of a nodule/mass (47%). Significant comorbidities were seen in 13 patients (81%) and included: liver transplant (25%), history of a neoplasm (25%), autoimmune hepatitis (6%), Crohn disease (6%), bipolar disorder (6%), severe combined immunodeficiency (6%), and sickle cell disease (6%). Eleven patients were taking multiple medications at the time of biopsy. Granulomas were more commonly pan-acinar (11 cases) followed by subcapsular (4 cases), portal (1 case), and periportal (1 case). Necrosis was seen in 10 cases (59%). GMS stain was positive in 2 cases for Histoplasma-like yeast; microbiological cultures were negative in all cases (no: 4). A 18S and 16S rRNA gene sequencing performed in 15 cases revealed only 1 with a pathogenic microorganism, Mycobacterium angelicum.Conclusion: In our experience, GPLB are heterogenous with only 3 cases having an identifiable infectious etiology and many of the remaining cases being associated to multiple medications, suggesting drug-induced liver injury as possible etiology.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"218-227"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139467165","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

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report. TMEM100在新生儿腺泡发育不良和一种新的TBX4变异中表达减少:一例报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2023-12-03 DOI: 10.1177/10935266231213464

Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A Karolak, Gail Deutsch, Drucilla Roberts, Paweł Stankiewicz

{"title":"Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.","authors":"Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A Karolak, Gail Deutsch, Drucilla Roberts, Paweł Stankiewicz","doi":"10.1177/10935266231213464","DOIUrl":"10.1177/10935266231213464","url":null,"abstract":"Acinar dysplasia (AcDys) of the lung is a rare lethal developmental disorder in neonates characterized by severe respiratory failure and pulmonary arterial hypertension refractory to treatment. Recently, abnormalities of TBX4-FGF10-FGFR2-TMEM100 signaling regulating lung development have been reported in patients with AcDys due to heterozygous single-nucleotide variants or copy-number variant deletions involving TBX4, FGF10, or FGFR2. Here, we describe a female neonate who died at 4 hours of life due to severe respiratory distress related to AcDys diagnosed by postmortem histopathologic evaluation. Genomic analyses revealed a novel deleterious heterozygous missense variant c.728A>C (p.Asn243Thr) in TBX4 that arose de novo on paternal chromosome 17. We also identified 6 candidate hypomorphic rare variants in the TBX4 enhancer in trans to TBX4 coding variant. Gene expression analyses of proband's lung tissue showed a significant reduction of TMEM100 expression with near absence of TMEM100 within the endothelium of arteries and capillaries by immunohistochemistry. These results support the pathogenicity of the detected TBX4 variant and provide further evidence that disrupted signaling between TBX4 and TMEM100 may contribute to severe lung phenotypes in humans, including AcDys.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"255-259"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479318","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

First Reported Histologically and Molecularly Confirmed Bilateral High-Grade Serous Ovarian Adenocarcinoma Metastasized to Placental Decidua of the Membranes. 首次报道经组织学和分子学证实转移至胎盘蜕膜的双侧高级别浆液性卵巢腺癌

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-14 DOI: 10.1177/10935266231222180

Salma El Emrani, Linda S Nooij, Chiara C M M Lap, Lotte E van der Meeren

{"title":"First Reported Histologically and Molecularly Confirmed Bilateral High-Grade Serous Ovarian Adenocarcinoma Metastasized to Placental Decidua of the Membranes.","authors":"Salma El Emrani, Linda S Nooij, Chiara C M M Lap, Lotte E van der Meeren","doi":"10.1177/10935266231222180","DOIUrl":"10.1177/10935266231222180","url":null,"abstract":"A 43-year-old female presented with blood loss and persistent abdominal pain at 14 weeks of gestation. Ultrasound examination and subsequent magnetic resonance imaging (MRI) revealed bilateral multicystic uterine adnexa. Exploratory laparotomy was performed at 17 weeks of gestation and bilateral serous ovarian adenocarcinoma FIGO stage IIIC was diagnosed. Complete cytoreductive surgery (CRS) was not feasible at that moment. Nine days after the exploratory laparotomy, immature rupture of membranes and contractions occurred and she delivered a premature boy after 19 weeks of gestation. Pathological examination of the placenta revealed that her ovarian cancer metastasized to the membranes. We describe the first case of ovarian cancer metastasized to the decidua of the placental membranes with histological, immunohistochemical, and molecular confirmation. This case highlights the importance of conscientious evaluation of placenta and membranes in pregnant women with ovarian cancer.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"270-274"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139467161","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

Expression of Calretinin in the Cecal Muscularis Interna: Observation and Hypothetical Relevance to Appendicitis. 钙凝蛋白在盲肠肌内的表达：观察及与阑尾炎的假定相关性。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-03-28 DOI: 10.1177/10935266241235507

Raj P Kapur

{"title":"Expression of Calretinin in the Cecal Muscularis Interna: Observation and Hypothetical Relevance to Appendicitis.","authors":"Raj P Kapur","doi":"10.1177/10935266241235507","DOIUrl":"10.1177/10935266241235507","url":null,"abstract":"Background: The unexpected observation of calretinin immunoreactivity in smooth muscle cells in the muscularis propria of the cecum led to a more detailed examination of calretinin expression and its possible relationship to propulsive contractile activity around the vermiform appendix.Methods: Immunohistochemistry and RNA in situ hybridization were performed to analyze calretinin expression in intestinal samples from 33 patients at ages ranging from mid-gestation fetuses to adults, as well as in some potentially relevant animal models. Dual immunolabeling was done to compare calretinin localization with markers of smooth muscle and interstitial cells of Cajal.Results: Calretinin expression was observed consistently in the innermost smooth muscle layers of the muscularis interna in the human cecum, appendiceal base, and proximal ascending colon, but not elsewhere in the intestinal tract. Calretinin-positive smooth muscle cells did not co-express markers located in adjacent interstitial cells of Cajal. Muscular calretinin immunoreactivity was not detected in the ceca of mice or macaques, species which lack appendices, nor in the rabbit cecum or appendix.Conclusions: Localized expression of calretinin in cecal smooth muscle cells may reduce the likelihood of retrograde, calcium-mediated propulsive contractions from the proximal colon and suppress pro-inflammatory fecal stasis in the appendix.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"241-254"},"PeriodicalIF":1.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319932","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