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伴有腺瘤性息肉病综合征的沿神经轴的异时性多灶性硬纤维瘤病样纤维瘤病

Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome.

作者信息

Chung K H Carlos, Charlton Amanda, Arbuckle Susan, Chaseling Raymond, Owler Brian K

机构信息

T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, New South Wales, Australia.

出版信息

J Neurosurg Pediatr. 2010 Oct;6(4):372-6. doi: 10.3171/2010.8.PEDS1015.

Abstract

Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.

摘要

硬纤维瘤型纤维瘤病、侵袭性纤维瘤病或硬纤维瘤是一种罕见的良性但具有局部侵袭性的成纤维细胞病变。尽管腹内硬纤维瘤型纤维瘤病与腺瘤性息肉病综合征相关的情况已有详细描述,但其沿神经轴发生极为罕见。作者报告了一例14岁男孩,先后发生颅内和脊柱硬纤维瘤型纤维瘤病,之前患有髓母细胞瘤。他最终被诊断为腺瘤性息肉病综合征。这是首例报道的与腺瘤性息肉病综合征相关的脊柱硬纤维瘤型纤维瘤病病例。确定潜在的基因不稳定性有助于进行筛查以发现病变,并采取措施避免非神经肿瘤导致的可预防死亡。

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