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首页> 外文期刊>Medical and Pediatric Oncology: The Official Journal of the American Association for Cancer Education >Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.
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Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.

机译：肥大和骨盆的分化差的胚胎横纹肌肉瘤。

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摘要

BACKGROUND: Asymmetry 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 RESULTS: In 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. CONCLUSIONS: This 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.
机译：背景：四肢的不对称（通常称为半肥大）是在一般人群中偶尔出现的过度生长综合征之一，频率约为1：86,000。据报道，半身肥大症是贝克威-维德曼综合征的一部分，其主要特征是食管膨出，巨眼症和巨人症，伴有低血糖，器官肥大，肾异常，半身肥大和胚胎肿瘤的发生频率较低。各种肿瘤也与孤立的肥大有关。 Wilms肿瘤，肾上腺皮质癌和肝母细胞瘤最常见。很少发生横纹肌肉瘤，神经母细胞瘤，嗜铬细胞瘤和未分化的肉瘤。 11p15.5号染色体杂合性（LOH）的丧失与儿童胚胎期肿瘤特别是Wilms肿瘤，肝母细胞瘤和横纹肌肉瘤密切相关。程序和结果：在本文中，我们描述了一个青春期的男性，其下肢先天性不对称，表现出较大的低分化骨盆肉瘤。对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分类。但是，通过分子分析对MyoD1（最近鉴定为胚胎表达的肌肉分化标记）和染色体11p15.5酪氨酸羟化酶位点的LOH进行阳性染色，有利于诊断胚胎性横纹肌肉瘤而不是未分化的肉瘤。结论：本案强调在发生癌症风险增加的情况下进行临床发现的重要性，在这种情况下，这是肢体的不对称。该患者还表明，需要尽早考虑进行分子诊断测试，以完善不确定的病理学诊断，最终可能对治疗和预后产生影响。

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