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Umbilical Cord Hemangiomas: A Multi-Institutional Case Series With Literature Review. 脐带血管瘤:多机构病例系列及文献综述
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-26 DOI: 10.1177/10935266241264161
Elizabeth O Ferreira, Camelia Stefanovici, Stefan Kostadinov, Virginia Duncan

Umbilical cord hemangiomas are rare lesions, for which data on pregnancy outcome is lacking. This study combines a multi-institution 4-case series with a systematic literature search (n = 52) to determine possible pathologic lesion parameters which may have an effect on pregnancy outcome. Of all 56 pregnancies, lesion size ranged from 0.2 to 23.0 cm with pregnancy outcomes ranging from healthy liveborns (58.9%), liveborns with severe complications largely due to prematurity and/or fluid overload (12.5%), intrauterine/neonatal demise (25.0%), and pregnancy termination (3.6%). Of the 52 cases included for statistical analysis, there was no significant association between fetal outcome and vascular lesion location (P = .12) or fetal outcome and single umbilical artery involvement versus involvement of other vasculature (P = .29). The mean length of vascular lesions that resulted in healthy liveborns did not significantly differ from those resulting in severe fetal complications and/or demise (P = .72). Cases resulting in severe complications and/or demise were significantly earlier at delivery than those resulting in healthy liveborns (P < .001). Combined findings suggest that functional lesion characteristics, such as the degree of turbulent flow generated, have more significance than size, especially in early gestation losses. Moving forward, standardized reporting of pathologic lesion characteristics is paramount to better predict pregnancy prognosis.

脐带血管瘤是一种罕见病变,目前尚缺乏有关妊娠结局的数据。本研究将多机构的 4 例系列研究与系统性文献检索(n = 52)相结合,以确定可能对妊娠结局产生影响的病理病变参数。在所有 56 例妊娠中,病灶大小从 0.2 厘米到 23.0 厘米不等,妊娠结局包括健康活产(58.9%)、主要因早产和/或体液过多导致严重并发症的活产(12.5%)、宫内/新生儿死亡(25.0%)和妊娠终止(3.6%)。在纳入统计分析的52例病例中,胎儿结局与血管病变位置(P = .12)或胎儿结局与单根脐动脉受累与其他血管受累(P = .29)之间无明显关联。导致健康活产的血管病变的平均长度与导致严重胎儿并发症和/或死亡的血管病变的平均长度没有显著差异(P = .72)。导致严重并发症和/或夭折的病例的分娩时间明显早于导致健康活产儿的病例(P = 0.29)。
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引用次数: 0
Response to Letter to the Editor: "Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists". 回应致编辑的信:"远程胎盘签出:数字病理学能为儿科病理学家带来什么"。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266231225791
Stefano Marletta, Liron Pantanowitz, Nicola Santonicco, Alessandro Caputo, Emma Bragantini, Matteo Brunelli, Ilaria Girolami, Albino Eccher
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引用次数: 0
Interfollicular Classic Hodgkin Lymphoma: Report of a Case and a Brief Review of Literature. 滤泡间典型霍奇金淋巴瘤:病例报告与文献简评。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266241236874
Kristina Brannock, Samir B Kahwash

Interfollicular Hodgkin lymphoma (IHL) has been rarely reported in the literature and is recognized by the WHO Classification as a morphologic pattern sometimes seen in mixed cellularity classic Hodgkin lymphoma (CHL). The changes may be subtle due to preservation of architecture. We report a case of a 9-year-old male with IHL showing preserved follicular architecture but with the presence of interfollicular infiltrates consisting of eosinophils, plasma cells, and Hodgkin-Reed-Sternberg (HRS) cells. Immunophenotyping confirmed the morphologic suspicion for IHL. A discussion and review of the literature are offered. We conclude that IHL is a variant that requires a high index of suspicion, as it may be easily missed due to the subtle morphologic features and preserved architecture seen in most cases. We further emphasize that unexplained interfollicular infiltrates of eosinophils may be clues that should prompt a search of HRS cells and consideration of immunohistochemical staining if needed.

文献中很少有关于叶间霍奇金淋巴瘤(IHL)的报道,世卫组织的分类将其视为混合细胞性典型霍奇金淋巴瘤(CHL)中有时会出现的一种形态模式。由于结构保留,这种变化可能很微妙。我们报告了一例9岁男性IHL病例,患者的滤泡结构得以保留,但出现了由嗜酸性粒细胞、浆细胞和霍奇金-里德-斯登堡(HRS)细胞组成的滤泡间浸润。免疫分型证实了形态学上对 IHL 的怀疑。本文对相关文献进行了讨论和综述。我们的结论是,IHL是一种需要高度怀疑的变异型,因为在大多数病例中,IHL的形态特征不明显且结构保留,因此很容易被漏诊。我们进一步强调,原因不明的小叶间嗜酸性粒细胞浸润可能是提示寻找 HRS 细胞的线索,必要时应考虑进行免疫组化染色。
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引用次数: 0
Childhood and Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With t(8;14) and BCL2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge. 具有t(8;14)和BCL2表达的儿童和青少年复发/难治性侵袭性B细胞淋巴瘤、伯基特淋巴瘤与弥漫性大B细胞淋巴瘤:诊断难题。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266241230600
Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, ZoAnn E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry

We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and IGH::MYC rearrangement by FISH. Next generation sequencing revealed deleterious TP53 and MYC mutations. We concluded that both could be diagnosed as "DLBCL-NOS with MYC rearrangement" using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World Health Organization Classifications of Haematolymphoid Tumors (WHO-HAEM5). This report illustrates diagnostic challenges and treatment dilemmas that may be encountered, particularly for adolescent and young adults (AYA).

我们介绍了两例诊断上具有挑战性的小儿/青少年复发/难治性侵袭性成熟B细胞非霍奇金淋巴瘤(B-NHL)病例,这两例病例属于伯基特淋巴瘤和弥漫大B细胞淋巴瘤的范畴,并说明了小儿和成人癌症中心采用的不同治疗方案。两个病例的淋巴瘤细胞大小不一,偶有单个突出核仁,BCL2表达不均。细胞遗传学通过FISH检测发现了t(8:14)(q24.2;q32)和IGH::MYC重排的复杂核型。新一代测序发现了有害的 TP53 和 MYC 基因突变。我们的结论是,根据目前的病理分类,即2022年国际共识分类(ICC)和世界卫生组织血淋巴瘤分类(WHO-HAEM5),这两例患者均可诊断为 "DLBCL-NOS伴MYC重排"。本报告阐述了可能遇到的诊断难题和治疗困境,尤其是青少年和年轻人(AYA)。
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引用次数: 0
A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report. 小儿原发性心脏纺锤形细胞肿瘤伴有罕见的 PDGFRA::USP8 基因融合:病例报告。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-02-24 DOI: 10.1177/10935266231221903
Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen

We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.

我们报告了一例原发性心脏纺锤形细胞肿瘤病例,该肿瘤具有相关的组织学特征和罕见的 PDGFRA::USP8 基因融合,患者是一名 3 岁男孩。患者的心脏肿块主要位于右心室,起源于室间隔。手术切除了肿块,肿块边缘呈阴性。病理结果显示,这是一种未分类的纺锤形细胞肿瘤,具有 PDGFRA::USP8 基因融合。这种基因融合以前只在医学文献中报道过两次,一次是在小儿心脏肉瘤中,另一次是在一名成年女性的腹部软组织肿瘤中。患者在切除术后 11 个月仍生存良好,无复发迹象。
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引用次数: 0
Nephrotic Syndrome in a Child With NPHS2 Mutation. 一名 NPHS2 基因突变患儿的肾病综合征
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-01-30 DOI: 10.1177/10935266231223274
Ross Tollaksen, Randall D Craver, Ihor V Yosypiv

Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). About 30% of children with SRNS demonstrate causative mutations in podocyte- associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy. A 2-year-old male patient with NS and no family history of renal disease did not respond to 4-week steroid treatment. Kidney biopsy demonstrated mesangial proliferative glomerulopathy with basement membrane dysmorphism. Tacrolimus and Lisinopril were added to therapy pending results of genetic testing. Kidney Gene panel showed a NPHS2 c.413G>A (p.Arg138Gln) homozygous pathogenic variant. This missense variant is considered a common pathogenic founder mutation in European populations. A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made. Immunosuppresive therapy was stopped, Lizinopril dose was increased and weekly infusions of Albumin/furosemide were initiated to manage edema. This case demonstrates that early genetic testing in children with SRNS avoids prolonged potentially harmful immunosuppressive therapy, allows for timely genetic family counseling, and allows earlier consideration for future living related donor kidney transplantation.

耐类固醇肾病综合征(SRNS)占儿童肾病综合征(NS)病例总数的 30%,并经常导致终末期肾病(ESKD)。约 30% 的 SRNS 患儿表现出荚膜相关基因的致病突变。及早发现 SRNS 的遗传形式对于避免可能有害的免疫抑制治疗至关重要。一名 2 岁的男性患者患有 NS,且无肾病家族史,对为期 4 周的类固醇治疗无反应。肾脏活检显示其肾小球系膜增生,基底膜畸形。在基因检测结果出来之前,治疗中增加了他克莫司和利辛普利。肾脏基因面板显示 NPHS2 c.413G>A (p.Arg138Gln) 同源致病变异。这种错义变异被认为是欧洲人群中常见的致病性创始突变。患者被诊断为因 NPHS2 致病变异导致的常染色体隐性非综合征 SRNS。患者停止了免疫抑制治疗,增加了利辛普利的剂量,并开始每周输注白蛋白/呋塞米以控制水肿。该病例表明,对SRNS患儿进行早期基因检测,可避免长期接受可能有害的免疫抑制治疗,及时为遗传学家庭提供咨询,并能更早地考虑未来的活体肾移植。
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引用次数: 0
Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists. 远程胎盘签出:数字病理学能为儿科病理学家带来什么?
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266231225799
Casey P Schukow, Jacqueline K Macknis
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引用次数: 0
Perfusion Pressure and the Histology of Brain Death: A Unique Case in an Infant Maintained on Life Support. 灌注压与脑死亡组织学:靠生命维持系统维持生命的婴儿的独特病例。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-01-30 DOI: 10.1177/10935266231223276
Meagan Chambers, Gail Deutsch

Brain death is a not uncommon phenomena in the adult and pediatric population. Most cases are removed from life support soon after brain death is declared. Less commonly, systemic perfusion is maintained by life support for some time after neurologic function stops. These cases present uncommon opportunities to explore the histology of necrosis and autolysis in the context of global hypoxic ischemic damage. Here, we describe the unusual case of an infant maintained on life support for 2 weeks after brain death was declared with an emphasis on the resulting gross and histologic findings including a discussion of their underlying physiology.

脑死亡在成人和儿童中并不少见。大多数病例在宣布脑死亡后很快就会脱离生命支持系统。较少见的情况是,在神经功能停止后,通过生命支持系统维持全身灌注一段时间。这些病例提供了罕见的机会,让我们可以在整体缺氧缺血性损伤的背景下探索坏死和自溶的组织学。在此,我们描述了一个不寻常的病例,该婴儿在宣布脑死亡后依靠生命支持维持了 2 周,重点是由此产生的大体和组织学结果,包括对其潜在生理学的讨论。
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引用次数: 0
In Utero Extrahepatic Bile Duct Damage and Repair: Implications for Biliary Atresia. 胎儿肝外胆管损伤和修复:胆道闭锁的影响。
IF 1.3 4区 医学 Q3 PATHOLOGY Pub Date : 2024-07-01 Epub Date: 2024-05-19 DOI: 10.1177/10935266241247479
Iris E M de Jong, Rebecca G Wells

Biliary atresia (BA) is a cholangiopathy affecting the extrahepatic bile duct (EHBD) of newborns. The etiology and pathophysiology of BA are not fully understood; however, multiple causes of damage and obstruction of the neonatal EHBD have been identified. Initial damage to the EHBD likely occurs before birth. We discuss how different developmental stages in utero and birth itself could influence the susceptibility of the fetal EHBD to damage and a damaging wound-healing response. We propose that a damage-repair response of the fetal and neonatal EHBD involving redox stress and a program of fetal wound healing could-regardless of the cause of the initial damage-lead to either obstruction and BA or repair of the duct and recovery. This overarching concept should guide future research targeted toward identification of factors that contribute to recovery as opposed to progression of injury and fibrosis. Viewing BA through the lens of an in utero damage-repair response could open up new avenues for research and suggests exciting new therapeutic targets.

胆道闭锁(BA)是一种影响新生儿肝外胆管(EHBD)的胆道病变。胆道闭锁的病因和病理生理学尚不完全清楚,但已发现导致新生儿肝外胆管损伤和阻塞的多种原因。EHBD 最初的损伤可能发生在出生前。我们讨论了子宫内不同的发育阶段和出生本身如何影响胎儿 EHBD 易受损伤和损伤性伤口愈合反应。我们提出,胎儿和新生儿 EHBD 的损伤修复反应涉及氧化还原应激和胎儿伤口愈合程序,无论最初损伤的原因是什么,都可能导致管道阻塞和 BA 或管道修复和恢复。这一总体概念应指导未来的研究,以确定有助于恢复的因素,而不是损伤和纤维化的进展。从子宫内损伤-修复反应的角度来看待 BA,可以为研究开辟新的途径,并提出令人兴奋的新治疗目标。
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引用次数: 0
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 Q3 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

Rectosigmoid solitary juvenile polyps are benign lesions, relatively frequent in childhood. The clinical debut of a pediatric polyp with bleeding is relatively frequent, but there are very few reports of rectal prolapse of polyps. We present the case of a 7-year-old female patient with no previous history who presented with rectal prolapse of a polyp with acute bleeding. An urgent endoscopic examination was performed and 2 rectosigmoid polypoid lesions were found and resected. The anatomopathological study showed that these were 2 hamartomatous polyps with mild dysplasia. The patient is asymptomatic and is being followed up. The literature concerning rectal prolapse of polyps in the pediatric population is scarce. In a pediatric patient with a rectal prolapse, this entity should be considered in the differential diagnosis.

直肠乙状结肠单发幼年息肉是一种良性病变,在儿童时期比较常见。小儿息肉伴出血的临床首发病例相对较多,但息肉直肠脱垂的报道却很少。本病例是一名 7 岁女性患者,既往无病史,因息肉直肠脱垂伴急性出血而就诊。患者接受了紧急内镜检查,发现并切除了 2 个直肠乙状结肠息肉病灶。解剖病理研究显示,这是 2 个伴有轻度发育不良的火腿肠样息肉。患者目前无症状,正在接受随访。有关儿童直肠息肉脱垂的文献很少。对于直肠脱垂的儿童患者,在鉴别诊断时应考虑到这一实体。
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引用次数: 0
期刊
Pediatric and Developmental Pathology
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