Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.
Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.
复制标题
偏侧肥大和分化不良的骨盆胚胎横纹肌肉瘤。
DOI：
10.1002/(sici)1096-911x(199901)32:1
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发表时间：
1999
期刊：
影响因子：
--
通讯作者：
DeBaun,MR
中科院分区：
文献类型：
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作者：
Samuel,DP;Tsokos,M;DeBaun,MR
背景四肢不对称（通常称为偏侧肥大）是过度生长综合征之一，在普通人群中偶发发生，频率约为 1:86,000。据报道，偏侧肥大是 Beckwith-Wiedemann 综合征的一部分，其主要特征是脐膨出、巨舌症和巨人症，并伴有低血糖、器官肿大、肾脏异常、偏侧肥大和胚胎肿瘤的发生频率较低。各种肿瘤也与孤立性偏侧肥大有关。肾母细胞瘤、肾上腺皮质癌和肝母细胞瘤是最常见的。横纹肌肉瘤、神经母细胞瘤、嗜铬细胞瘤和肺部未分化肉瘤很少见。染色体 11p15.5 杂合性缺失 (LOH) 与儿童胚胎肿瘤密切相关，特别是肾母细胞瘤、肝母细胞瘤和横纹肌肉瘤。 程序和结果在本文中，我们描述了一名患有先天性下肢不对称的青少年男性，其患有大的低分化盆腔肉瘤。该肿瘤的常规组织学、免疫组织化学和超微结构研究不足以进行准确的亚分类。然而，通过分子分析，MyoD1（一种最近鉴定的胚胎表达的肌肉分化标志物）和染色体 11p15.5 酪氨酸羟化酶位点处的 LOH 染色呈阳性，有利于胚胎横纹肌肉瘤的诊断，而不是未分化肉瘤。结论该病例强调了当临床发现发生在患癌症风险增加的情况下（在本例中为肢体不对称）时，追求临床发现的重要性。该患者还表明，需要尽早考虑分子诊断测试（如果可行），以完善不确定的病理诊断，最终可能对治疗和预后产生影响。医学。儿科。安科尔。 32:38–43, 1999。1999 年出版 Wiley-Liss, Inc.
BackgroundAsymmetry of the limbs (conventionally known as hemihypertrophy) is one of the overgrowth syndromes occurring sporadically in the general population at a frequency of approximately 1:86,000. Hemihypertrophy is also reported as part of the Beckwith‐Wiedemann syndrome which has as its cardinal features omphalocele, macroglossia and gigantism with hypoglycemia, organomegaly, renal anomalies, hemihypertrophy, and embryonal tumors occurring less frequently. Various neoplasms are also associated with isolated hemihypertrophy. Wilms tumor, adrenocortical carcinoma, and hepatoblastoma are the most frequent. Rhabdomyosarcoma, neuroblastoma, phaeochromocytoma, and undifferentiated sarcoma of the lung are encountered only rarely. Loss of heterozygosity (LOH) of chromosome 11p15.5 is strongly associated with childhood embryonal tumors, particularly Wilms tumor, hepatoblastoma, and rhabdomyosarcoma.Procedure and ResultsIn this article, we describe an adolescent male with congenital asymmetry of the lower limbs who presented with a large poorly differentiated pelvic sarcoma. Conventional histologic, immunohistochemical, and ultrastructural studies of this tumor were insufficient for accurate subclassfication. However, positive staining for MyoD1 (a recently identified embryonically expressed marker of muscle differentiation) and LOH at the tyrosine hydroxylase locus of chromosome 11p15.5 by molecular analysis favored the diagnosis of embryonal rhabdomyosarcoma over an undifferentiated sarcoma.ConclusionsThis case stresses the importance of pursuing clinical findings when they occur in conditions with an increased risk of developing cancer, which in this case was asymmetry of a limb. Also illustrated by this patient is the need for early consideration of molecular diagnostic tests where available, to refine an uncertain pathologic diagnosis that may ultimately have an impact on treatment and prognosis. Med. Pediatr. Oncol. 32:38–43, 1999. Published 1999 Wiley‐Liss, Inc.