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颅外复合型婴儿肌纤维瘤病:病例报告及文献综述

Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review.

作者信息

Ivanov Alexander, Valyi-Nagy Tibor, Nikas Dimitrios

机构信息

Department of Neurosurgery, University of Illinois at Chicago, Chicago, Illinois, United States.

Department of Pathology, University of Illinois at Chicago, Chicago, Illinois, United States.

出版信息

European J Pediatr Surg Rep. 2016 Dec;4(1):22-25. doi: 10.1055/s-0036-1580704. Epub 2016 Jun 12.

DOI:10.1055/s-0036-1580704
PMID:28018804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5177563/
Abstract

Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with several distinct histopathological features including myofibroma, hemangiopericytoma, and fibrosarcoma consistent with the diagnosis of composite infantile myofibromatosis. Genetic testing was negative for trisomy 17, translocation (12; 15), FUS, and ETV6 translocations. Despite the ominous histopathological features, the clinical course was benign. The authors review here available literature concerning current concepts of making the diagnosis of composite infantile myofibromatosis and discuss treatment options.

摘要

婴儿头部软组织肿瘤非常罕见,其中大多数是肌纤维瘤。作者报告了一例1日龄男婴,其头皮肿瘤具有几种独特的组织病理学特征,包括肌纤维瘤、血管外皮细胞瘤和纤维肉瘤,符合复合性婴儿肌纤维瘤病的诊断。基因检测显示17三体、易位(12;15)、FUS和ETV6易位均为阴性。尽管组织病理学特征不佳,但临床病程为良性。作者在此回顾了有关复合性婴儿肌纤维瘤病诊断的现有文献,并讨论了治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/ef40ac5ee996/10-1055-s-0036-1580704-i150266cr-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/0ad258b181cc/10-1055-s-0036-1580704-i150266cr-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/c29d2cbbf915/10-1055-s-0036-1580704-i150266cr-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/ef40ac5ee996/10-1055-s-0036-1580704-i150266cr-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/0ad258b181cc/10-1055-s-0036-1580704-i150266cr-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/c29d2cbbf915/10-1055-s-0036-1580704-i150266cr-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc63/5177563/ef40ac5ee996/10-1055-s-0036-1580704-i150266cr-3.jpg

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本文引用的文献

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Solitary, multifocal and generalized myofibromas: clinicopathological and immunohistochemical features of 114 cases.孤立性、多灶性和弥漫性肌纤维瘤:114 例的临床病理和免疫组化特征。
Histopathology. 2012 May;60(6B):E1-11. doi: 10.1111/j.1365-2559.2012.04221.x. Epub 2012 Apr 4.
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Morphologic Overlap between Infantile Myofibromatosis and Infantile Fibrosarcoma: A Pitfall in Diagnosis.婴儿肌纤维瘤病与婴儿纤维肉瘤之间的形态学重叠:诊断中的一个陷阱
Pediatr Dev Pathol. 2008 Sep-Oct;11(5):355-62. doi: 10.2350/07-09-0355.1. Epub 2008 Feb 14.
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Distinctive soft tissue tumors of the head and neck.头颈部独特的软组织肿瘤。
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