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先天性肺泡横纹肌肉瘤伴多发皮肤转移。病例报告。

Congenital alveolar rhabdomyosarcoma with multiple skin metastases. Report of a case.

作者信息

Hayashi K, Ohtsuki Y, Takahashi K, Sonobe H, Nakamura S, Kitagawa N, Arata J, Shimanouchi Y, Kurashige T

机构信息

Second Department of Pathology, Kochi Medical School, Japan.

出版信息

Acta Pathol Jpn. 1988 Feb;38(2):241-8. doi: 10.1111/j.1440-1827.1988.tb01102.x.

DOI:10.1111/j.1440-1827.1988.tb01102.x
PMID:3389151
Abstract

A rare case of congenital alveolar rhabdomyosarcoma revealing multiple skin metastases in a female neonate is reported. At birth, a ping-pong ball-sized tumor on the neck and a tumor the size of a little finger end on the chin were noticed. Then, multiple skin tumors over the whole body occurred soon after birth. A biopsied small skin tumor was at first interpreted as being compatible with metastatic congenital neuroblastoma. However, immunohistochemical and electron microscopic findings revealed positive immunoreactivity for myoglobin in a few tumor cells and the presence of a few rhabdomyoblasts among poorly differentiated tumor cells, resulting in a final diagnosis of alveolar rhabdomyosarcoma. Therefore, it should be emphasized that in cases of round cell tumor, immunohistochemical and ultrastructural studies are imperative in order to identify the tumor and differentiate it from other forms, including rhabdomyoblastoma, neuroblastoma, Ewing's sarcoma, malignant lymphoma, and small cell carcinoma.

摘要

报告了一例罕见的先天性肺泡横纹肌肉瘤,该病例为一名女性新生儿,出现了多处皮肤转移。出生时,发现颈部有一个乒乓球大小的肿瘤,下巴处有一个小手指末端大小的肿瘤。随后,出生后不久全身出现多处皮肤肿瘤。一个活检的小皮肤肿瘤最初被解释为与转移性先天性神经母细胞瘤相符。然而,免疫组化和电镜检查结果显示,少数肿瘤细胞中肌红蛋白免疫反应呈阳性,在低分化肿瘤细胞中存在少数横纹肌母细胞,最终诊断为肺泡横纹肌肉瘤。因此,应强调在圆形细胞瘤病例中,免疫组化和超微结构研究对于识别肿瘤并将其与其他类型,包括横纹肌母细胞瘤、神经母细胞瘤、尤因肉瘤、恶性淋巴瘤和小细胞癌进行鉴别至关重要。

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引用本文的文献

1
Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.先天性横纹肌肉瘤:两例不同的临床表现。
BMC Pediatr. 2018 May 15;18(1):166. doi: 10.1186/s12887-018-1128-5.
2
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.与贝克威思-维德曼综合征相关的先天性肺泡横纹肌肉瘤中CDKN1C表达降低。
Indian J Pediatr. 2016 Nov;83(12-13):1476-1478. doi: 10.1007/s12098-016-2187-y. Epub 2016 Jun 27.
3
Orbital rhabdomyosarcoma with skin metastasis: a case report.眼眶横纹肌肉瘤伴皮肤转移:一例报告
BMC Res Notes. 2014 Sep 24;7:670. doi: 10.1186/1756-0500-7-670.