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Third Trimester Stillbirth Associated With Hamartoma of Mature Cardiac Myocytes (HMCM). 与成熟心肌细胞脂肪瘤(HMCM)相关的第三胎死产。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-28 DOI: 10.1177/10935266241286716
Silvia Planas, Mariona Genero, Miriam Illa

Fetal primary cardiac tumors (FPCTs) are very rare. The majority of them correspond to cardiac rhabdomyomas, followed by other benign neoplasms or hamartomas. We describe the case of a third trimester female stillborn with an incidental autopsy finding of Hamartoma of Mature Cardiac Myocytes (HMCM), a rare benign cardiac tumor previously unreported in the fetal or neonatal period. The intrauterine demise occurred at 32 + 6 weeks gestation after an uneventful pregnancy. The fetal autopsy revealed a structurally normal heart with a small subendocardial nodule just below the membranous septum. Microscopically, the nodule was well-demarcated from the surrounding penetrating bundle of the conduction axis and the adjacent left ventricular myocardium and consisted of disorganized mature cardiac myocytes in a haphazard arrangement with patchy mild interstitial fibrosis, consistent with HMCM. Awareness that HMCM can occur in the fetus is important in order to consider it among the differential diagnosis of FPCTs.

胎儿原发性心脏肿瘤(FPCT)非常罕见。其中大多数是心脏横纹肌瘤,其次是其他良性肿瘤或火腿肠瘤。我们描述了一例怀孕三个月的女死胎,尸检意外发现其患有成熟心肌细胞火腿状瘤(HMCM),这是一种罕见的良性心脏肿瘤,以前从未在胎儿或新生儿期报道过。胎儿在妊娠 32+6 周时夭折,此前妊娠过程并不顺利。胎儿尸检显示心脏结构正常,在膜隔下方有一个心内膜下小结节。显微镜下,该结节与周围的传导轴穿透束和邻近的左心室心肌分界清晰,由杂乱无章的成熟心肌细胞组成,伴有斑片状轻度间质纤维化,与 HMCM 一致。认识到 HMCM 可发生在胎儿身上非常重要,以便将其作为 FPCT 的鉴别诊断之一。
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引用次数: 0
Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment. 卡萨马西玛-莫顿-南斯综合征和肢体-体壁缺损:第二例病例及表型评估。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-26 DOI: 10.1177/10935266241281797
Víctor M Salinas-Torres, Rafael A Salinas-Torres

Casamassima-Morton-Nance syndrome (CMNS) is a rare disorder characterized by spondylocostal dysostosis (SCD), anal atresia, and urogenital anomalies. We describe a fetus with CMNS associated with a limb-body wall defect (LBWD), the second such case in the literature. We compare the phenotypic differences with previously reported cases, including those with segmentation anomalies of the axial skeleton, body wall defects, or absent/abnormal genitalia, revealing the consistent presence of SCD in CMNS. However, as expected, a wide phenotypic spectrum emerges, providing useful observations for fetal/neonatal screening relevant to differential diagnoses. Advanced diagnostic methods using imaging and next-generation skeletal dysplasia multi-gene panels are advisable, as they enable timely, actionable, well-informed decisions for parental counseling, potential elective termination of pregnancy, and prenatal and/or postnatal care. Most reported cases do not mention the recurrence of these usually lethal anomalies.

卡萨马岛-莫顿-南斯综合征(CMNS)是一种罕见疾病,以脊柱骨发育不良(SCD)、肛门闭锁和泌尿生殖系统畸形为特征。我们描述了一名伴有肢体-体壁缺损(LBWD)的 CMNS 胎儿,这是文献中第二例此类病例。我们将其表型差异与之前报道的病例(包括轴骨骼分段异常、体壁缺损或生殖器缺失/异常病例)进行了比较,揭示了SCD在CMNS中的一致存在。然而,正如预期的那样,出现了广泛的表型谱,为与鉴别诊断相关的胎儿/新生儿筛查提供了有用的观察结果。使用成像和下一代骨骼发育不良多基因面板的先进诊断方法是可取的,因为这些方法能够为父母咨询、可能的选择性终止妊娠以及产前和/或产后护理提供及时、可操作、知情的决策。大多数报告病例并未提及这些通常是致命性异常的复发。
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引用次数: 0
Exploring the Impact and Prospects of Social Media in Advancing Pediatric Pathology. 探索社交媒体在推动儿科病理学发展方面的影响和前景。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-26 DOI: 10.1177/10935266241284039
Casey P Schukow, Charles Herndon, Oscar F Lopez-Nunez, Sonja D Chen, Samir Kahwash

Social media has been recently highlighted as a unique and modern virtual force that allows for worldwide connection, collaboration, communication, and engagement between pathologists, trainees, and medical students. Much literature has been focused on the role of social media in recruitment and medical education practices of different pathology subspecialties, such as dermatopathology and hematopathology. However, current literature on pathology social media's status and potential future roles in promoting pediatric pathology is sparse. Herein, this review intends to narrow this knowledge gap by reviewing how social media has been utilized in different pediatric subspecialties, the current use of social media in pathology, and how the future of pediatric pathology social media use may look moving forward regarding education, research, and recruitment. Specific tips and related online resources are provided.

最近,社交媒体作为一种独特的现代虚拟力量备受瞩目,它使病理学家、受训者和医学生之间能够在全球范围内进行联系、合作、交流和接触。许多文献都关注社交媒体在不同病理亚专科(如皮肤病理学和血液病理学)的招聘和医学教育实践中的作用。然而,目前有关病理学社交媒体在促进儿科病理学发展方面的地位和未来潜在作用的文献却很少。在此,本综述旨在通过回顾社交媒体在不同儿科亚专科中的应用、社交媒体在病理学中的应用现状,以及儿科病理学社交媒体在教育、研究和招聘方面的应用前景,来缩小这一知识差距。文中还提供了具体的提示和相关的在线资源。
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引用次数: 0
Is Conservative Management of Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Possible in Children? 儿童是否可能接受具有乳头状核特征的非侵袭性滤泡性甲状腺肿瘤 (NIFTP) 的保守治疗?
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-25 DOI: 10.1177/10935266241282055
Ulgen Celtik, Yesim Ertan, Samim Ozen, Damla Goksen, Ahmet Celik

Background: Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is a newly recognized entity with benign clinical characteristics. We aim to compare NIFTP with invasive encapsulated follicular variant papillary carcinoma (fvPTC) and to discuss the management.

Methods: Records of patients with fvPTC and NIFTP between 2016 and 2022 were reviewed retrospectively. Two groups were compared according to demographics, surgical management, postoperative management, and long-term follow-up.

Results: Twenty patients were included in the study, with 10 in NIFTP group and 10 in fvPTC group. The mean age at operation was 14.10 ± 2.61 years. Demographics and preoperative nodule sizes (P = .912) were statistically similar between the 2 groups. Although lobectomy was more common in the NIFTP group, this difference was not statistically significant compared to the fvPTC group in terms of surgical treatment. Postoperatively, while no patient received radioactive iodine treatment(RAI) in NIFTP group, 6 patients in fvPTC group did (P = .011). Five patients in NIFTP group and 3 in the fvPTC group were followed up with lobectomy only, without any adverse events or recurrence, for 47.50 ± 19.25 and 30.10 ± 19.25 months, respectively.

Conclusion: In conclusion, NIFTP appears to be an indolent disease in children. Therefore, observation with lobectomy is sufficient, and RAI is not necessary.

背景:具有乳头状核特征的非侵袭性滤泡性甲状腺肿瘤(NIFTP)是一种新近被发现的具有良性临床特征的实体瘤。我们旨在比较NIFTP与浸润性包膜滤泡样乳头状癌(fvPTC),并讨论其治疗方法:方法:回顾性审查了2016年至2022年间fvPTC和NIFTP患者的记录。根据人口统计学、手术处理、术后处理和长期随访情况对两组患者进行比较:研究共纳入20例患者,其中NIFTP组10例,fvPTC组10例。手术时的平均年龄为(14.10 ± 2.61)岁。两组患者的人口统计学和术前结节大小(P = .912)在统计学上相似。虽然 NIFTP 组患者更常接受肺叶切除术,但在手术治疗方面,与 fvPTC 组相比,差异无统计学意义。术后,NIFTP 组没有患者接受放射性碘治疗(RAI),而 fvPTC 组有 6 名患者接受了放射性碘治疗(P = .011)。NIFTP 组的 5 名患者和 fvPTC 组的 3 名患者仅接受了肺叶切除术,分别随访了 47.50 ± 19.25 个月和 30.10 ± 19.25 个月,未发生任何不良事件或复发:总之,NIFTP 在儿童中似乎是一种隐匿性疾病。因此,通过肺叶切除术进行观察就足够了,并不需要 RAI。
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引用次数: 0
Fetal Vertebral Chondrostasis-Significance of Excessive Cartilage in Vertebral Bodies of Newborns. 胎儿椎体软骨症--新生儿椎体软骨过多的意义。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-21 DOI: 10.1177/10935266241258543
Emily Gorman, Steven J Staffa, Harry Kozakewich, David Zurakowski

Introduction: We describe an abnormality in fetal and neonatal vertebral bodies whose most conspicuous characteristic is an increase in cartilaginous matrix within cancellous osseous trabeculae. We have termed this finding fetal chondrostasis (FC).

Methods: We initiated a retrospective review of autopsy reports in which this condition had been prospectively diagnosed during a 36-year period. The Chalkley point counting method was applied to histologic sections of vertebral bodies to assess the relative components of cartilage, bone, and bone marrow. The results were compared to those of three control groups whose causes of death were prematurity, birth trauma, and infection.

Results: We found that on average, the cartilaginous content in the FC group was considerably greater in both preterm and term infants when compared to controls. FC seemed to evolve from diminished activity in the cartilaginous growth zone resulting in formation of excessively broad cartilaginous columns. These subsequently suffered from delayed resorption following their incorporation within cancellous bony trabeculae.

Conclusion: Excess cartilage within cancellous bone of vertebral centra in newborns is merely one aspect of disturbed intrauterine osseous development but is seemingly more readily discernible than other features at this site. The most common clinical correlates for FC were multiple congenital anomalies, congenital heart disease, intrauterine growth retardation, prematurity, and certain maternal factors.

导言:我们描述了胎儿和新生儿椎体的一种异常,其最显著的特征是松质骨小梁内软骨基质的增加。我们将这一发现称为胎儿软骨症(FC):我们对 36 年间前瞻性诊断出该病症的尸检报告进行了回顾性研究。对椎体组织切片采用查克利点计数法评估软骨、骨和骨髓的相对成分。研究结果与三个对照组的结果进行了比较,这三个对照组的死亡原因分别是早产、出生创伤和感染:我们发现,与对照组相比,FC 组早产儿和足月儿的软骨含量平均要高得多。FC似乎是由于软骨生长区的活动减弱导致形成过宽的软骨柱。这些软骨柱在进入松质骨骨小梁后会出现延迟吸收:结论:新生儿椎体中心松质骨内软骨过多只是宫内骨发育紊乱的一个方面,但似乎比该部位的其他特征更容易辨别。FC最常见的临床相关因素是多种先天性畸形、先天性心脏病、宫内发育迟缓、早产和某些母体因素。
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引用次数: 0
Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection 母体巨细胞病毒 (CMV) 血清学:CMV IgM 和 IgG 阳性在检测先天性 CMV 感染中的诊断局限性
IF 1.9 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-14 DOI: 10.1177/10935266241253477
Elaine S. Chan, Ian Suchet, David Somerset, Lawrence de Koning, Rati Chadha, Nancy Soliman, Verena Kuret, Weiming Yu, Julie Lauzon, Mary Ann Thomas, Elaine Poon, Hong Yuan Zhou
Introduction:Congenital cytomegalovirus (cCMV) is a common congenital viral infection. Testing for cCMV usually begins with assessing maternal CMV serology, specifically IgM and IgG antibodies. A negative maternal CMV IgM suggests a low risk of recent maternal CMV infection, thereby suggesting a low risk of cCMV in the fetus. Consequently, cCMV is often ruled out when maternal CMV IgM is negative.Methods:In our perinatal autopsy and placental pathology database, we identified 5 cases of cCMV despite negative maternal CMV IgM results in the second trimester.Results:In all 5 cases, fetal abnormalities were first detected by ultrasound in the second trimester, prompting maternal CMV testing. Since second trimester maternal CMV IgM was negative in all cases, cCMV was considered unlikely, thus precluding further prenatal CMV testing in 4 of these cases. The diagnosis of cCMV was subsequently made through placental and/or autopsy examinations. Following this diagnosis, retrospective CMV serology and IgG avidity testing was performed on stored frozen first-trimester maternal blood samples in 3 cases. Among these, the first-trimester samples in 2 cases were IgG+, IgM+, and exhibited low IgG avidity, suggesting a primary maternal CMV infection around the time of conception. In the third case, both first and second-trimester maternal blood samples were IgG+, IgM−, and showed high IgG avidity, suggesting a non-primary maternal CMV infection (i.e., reactivation or reinfection of CMV).Conclusion:A negative maternal CMV IgM in the second trimester cannot exclude cCMV infection. While CMV IgG avidity testing and analysis of stored frozen first-trimester maternal blood samples provide valuable insights, they have limitations. CMV PCR performed on amniotic fluid is a useful prenatal diagnostic tool. For cases of unexplained fetal abnormalities or death, autopsy and placental examination are recommended.
导读:先天性巨细胞病毒(cCMV)是一种常见的先天性病毒感染。cCMV 检测通常从评估母体 CMV 血清学开始,特别是 IgM 和 IgG 抗体。母体 CMV IgM 阴性表明母体近期感染 CMV 的风险较低,因此胎儿感染 cCMV 的风险也较低。方法:在我们的围产期尸检和胎盘病理学数据库中,我们发现了 5 例在第二孕期母体 CMV IgM 阴性的情况下仍感染了 cCMV 的病例。结果:在所有 5 例病例中,胎儿畸形都是在第二孕期首次通过超声检查发现的,这促使我们进行了母体 CMV 检测。由于所有病例的第二孕期母体 CMV IgM 均为阴性,因此认为 cCMV 的可能性不大,从而排除了对其中 4 个病例进行进一步的产前 CMV 检测。随后通过胎盘和/或尸检确诊为 cCMV。在确诊后,对 3 个病例储存的冷冻初产妇血样进行了 CMV 血清学和 IgG 阳性检测。其中,2 个病例的初产妇血样为 IgG+、IgM+,且 IgG 阳性较低,这表明母体在受孕前后感染了原发性 CMV。结论:妊娠后三个月母体 CMV IgM 阴性不能排除 cCMV 感染。虽然 CMV IgG 阳性检测和对储存的冷冻初产妇血液样本的分析能提供有价值的信息,但它们也有局限性。对羊水进行 CMV PCR 是一种有用的产前诊断工具。对于原因不明的胎儿畸形或死亡病例,建议进行尸检和胎盘检查。
{"title":"Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection","authors":"Elaine S. Chan, Ian Suchet, David Somerset, Lawrence de Koning, Rati Chadha, Nancy Soliman, Verena Kuret, Weiming Yu, Julie Lauzon, Mary Ann Thomas, Elaine Poon, Hong Yuan Zhou","doi":"10.1177/10935266241253477","DOIUrl":"https://doi.org/10.1177/10935266241253477","url":null,"abstract":"Introduction:Congenital cytomegalovirus (cCMV) is a common congenital viral infection. Testing for cCMV usually begins with assessing maternal CMV serology, specifically IgM and IgG antibodies. A negative maternal CMV IgM suggests a low risk of recent maternal CMV infection, thereby suggesting a low risk of cCMV in the fetus. Consequently, cCMV is often ruled out when maternal CMV IgM is negative.Methods:In our perinatal autopsy and placental pathology database, we identified 5 cases of cCMV despite negative maternal CMV IgM results in the second trimester.Results:In all 5 cases, fetal abnormalities were first detected by ultrasound in the second trimester, prompting maternal CMV testing. Since second trimester maternal CMV IgM was negative in all cases, cCMV was considered unlikely, thus precluding further prenatal CMV testing in 4 of these cases. The diagnosis of cCMV was subsequently made through placental and/or autopsy examinations. Following this diagnosis, retrospective CMV serology and IgG avidity testing was performed on stored frozen first-trimester maternal blood samples in 3 cases. Among these, the first-trimester samples in 2 cases were IgG+, IgM+, and exhibited low IgG avidity, suggesting a primary maternal CMV infection around the time of conception. In the third case, both first and second-trimester maternal blood samples were IgG+, IgM−, and showed high IgG avidity, suggesting a non-primary maternal CMV infection (i.e., reactivation or reinfection of CMV).Conclusion:A negative maternal CMV IgM in the second trimester cannot exclude cCMV infection. While CMV IgG avidity testing and analysis of stored frozen first-trimester maternal blood samples provide valuable insights, they have limitations. CMV PCR performed on amniotic fluid is a useful prenatal diagnostic tool. For cases of unexplained fetal abnormalities or death, autopsy and placental examination are recommended.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":"9 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260376","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
Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis 先天性肾脏异常的实用方法:聚焦肾小球发育不全或异常的畸形:肾发育不良、肾发育不全和肾小管发育不良
IF 1.9 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-14 DOI: 10.1177/10935266241239241
Alexia Gazeu, Sophie Collardeau-Frachon
Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.
先天性肾脏和泌尿道畸形(CAKUT)占产前先天性畸形的 30%,是全球儿童肾衰竭的主要原因。本综述重点介绍了治疗肾脏和泌尿道畸形的实用方法,尤其是那些肾小球发育不全或异常的病例,如肾发育不良、肾发育不全和肾小管发育不良。综述深入探讨了这些异常的组织学特征、发病机制、机制、病因、产前和产后表现、管理和预后。由于有几种综合征可能将 CAKUT 作为表型成分,而且肾发育不良可能发生在某些纤毛虫病、肿瘤易感综合征和先天性代谢错误中,因此对鉴别诊断进行了讨论。CAKUT 的诊断和遗传咨询具有挑战性,这是因为其表现形式、遗传和表型异质性存在很大差异,而且很难通过产前成像评估产后肺和肾功能。综述强调了围产期尸检和手术标本病理结果对确定 CAKUT 诊断和预后的重要性。还讨论了基因检测的适应症和类型。目的是为儿科和围产期病理学家提供有关实用方法、诊断过程和遗传因素的重要见解,为他们提供有价值的指导。
{"title":"Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis","authors":"Alexia Gazeu, Sophie Collardeau-Frachon","doi":"10.1177/10935266241239241","DOIUrl":"https://doi.org/10.1177/10935266241239241","url":null,"abstract":"Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":"26 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260749","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 Hybrid Perineurioma and Granular Cell Tumor: A Pediatric Case. 罕见的混合性会厌瘤和颗粒细胞瘤:一个小儿病例
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-09 DOI: 10.1177/10935266241274529
Kennedy H Sun, Sonia P Goyal, Evelyn M Kim, Esperanza Mantilla-Rivas, Gary F Rogers, Sam P Gulino

We present a case of a 13-year-old patient with a distinct tumor with both granular cell and perineurial elements, located on the lower lip. The patient presented with a long-standing lip mass that was clinically felt to most likely represent a mucocele. Following surgical excision, histopathological examination revealed a well-circumscribed tumor composed of granular cells with positive S100 protein staining and spindled cells positive for EMA and GLUT-1, confirming mixed neuroectodermal and perineurial origin. This is the first case documenting a perineurial-granular cell hybrid tumor in a patient under 18 years old, and the first to be reported in the head and neck. This case expands our understanding of hybrid PNSTs, emphasizing the importance of considering diverse clinical presentations, especially in the context of rare pediatric occurrences in atypical locations.

我们报告了一例 13 岁患者的病例,患者下唇长有一个明显的肿瘤,既有颗粒细胞,也有会厌细胞。患者的唇部肿块由来已久,临床感觉很可能是粘液瘤。手术切除后,组织病理学检查发现肿瘤由颗粒细胞组成,S100 蛋白染色阳性,EMA 和 GLUT-1 呈纺锤形细胞阳性,证实为神经外胚层和神经周围混合来源。这是第一例记录18岁以下患者患神经周围细胞-颗粒细胞混合瘤的病例,也是第一例在头颈部报告的病例。该病例拓展了我们对混合型PNST的认识,强调了考虑不同临床表现的重要性,尤其是在非典型部位的罕见儿科病例中。
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引用次数: 0
A Novel TEK::GAB2 Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review. 小儿盆腔软组织血管肉瘤中的新型 TEK::GAB2 基因融合:病例报告与文献综述
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-09 DOI: 10.1177/10935266241279073
Zachary Emmanuel Sandoval, Ryan J Schmidt, Jessica Sheth Bhutada, Nick Shillingford, Shengmei Zhou

Pediatric angiosarcoma of soft tissue, an extremely rare entity, remains poorly understood from a genetic standpoint. Herein, we present the case of a previously healthy 17-year-old girl with acute left hip pain. Subsequent magnetic resonance imaging revealed a 21.8 cm left pelvic sidewall mass with heterogeneous enhancement and multiple lung nodules. Biopsy of the tumor showed an infiltrative, hemorrhagic neoplasm composed primarily of atypical spindle to epithelioid cells. Focal vasoformative architecture was appreciated. Immunohistochemically, the tumor cells were strongly positive for CD31, ERG, and FLI-1, supporting the diagnosis of angiosarcoma. Genetic analysis identified a novel TEK::GAB2 gene fusion. TEK belongs to the angiopoietin receptor family, and its fusion with GAB2 is predicted to mediate tumorigenesis. This report expands the current knowledge on the spectrum of gene rearrangements of angiosarcoma.

小儿软组织血管肉瘤是一种极为罕见的疾病,从遗传学角度来看,人们对这种疾病的了解仍然很少。在此,我们介绍了一例病例,患者是一名原本健康的 17 岁女孩,因急性左髋部疼痛而就诊。随后的磁共振成像显示,患者左侧骨盆侧壁有一个 21.8 厘米的肿块,肿块呈异质强化,并伴有多个肺结节。肿瘤活检显示为浸润性出血性肿瘤,主要由非典型纺锤形至上皮样细胞组成。病灶血管形态结构清晰可见。免疫组化结果显示,肿瘤细胞的 CD31、ERG 和 FLI-1 呈强阳性,支持血管肉瘤的诊断。基因分析发现了一种新型的TEK::GAB2基因融合体。TEK 属于血管生成素受体家族,它与 GAB2 的融合被认为是肿瘤发生的介导因素。该报告扩展了目前有关血管肉瘤基因重排谱的知识。
{"title":"A Novel <i>TEK::GAB2</i> Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review.","authors":"Zachary Emmanuel Sandoval, Ryan J Schmidt, Jessica Sheth Bhutada, Nick Shillingford, Shengmei Zhou","doi":"10.1177/10935266241279073","DOIUrl":"10.1177/10935266241279073","url":null,"abstract":"<p><p>Pediatric angiosarcoma of soft tissue, an extremely rare entity, remains poorly understood from a genetic standpoint. Herein, we present the case of a previously healthy 17-year-old girl with acute left hip pain. Subsequent magnetic resonance imaging revealed a 21.8 cm left pelvic sidewall mass with heterogeneous enhancement and multiple lung nodules. Biopsy of the tumor showed an infiltrative, hemorrhagic neoplasm composed primarily of atypical spindle to epithelioid cells. Focal vasoformative architecture was appreciated. Immunohistochemically, the tumor cells were strongly positive for CD31, ERG, and FLI-1, supporting the diagnosis of angiosarcoma. Genetic analysis identified a novel <i>TEK::GAB2</i> gene fusion. <i>TEK</i> belongs to the angiopoietin receptor family, and its fusion with <i>GAB2</i> is predicted to mediate tumorigenesis. This report expands the current knowledge on the spectrum of gene rearrangements of angiosarcoma.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241279073"},"PeriodicalIF":1.3,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156691","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
Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation. 儿科病理学奠基人:罗恩-杰斐博士(1943-2022)--赏析。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-09-01 Epub Date: 2024-02-24 DOI: 10.1177/10935266231222712
Laura S Finn, Jennifer Picarsic, A S Knisely
{"title":"Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation.","authors":"Laura S Finn, Jennifer Picarsic, A S Knisely","doi":"10.1177/10935266231222712","DOIUrl":"10.1177/10935266231222712","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"383-386"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139944674","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
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Pediatric and Developmental Pathology
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