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胰腺母细胞瘤自发性破裂：异常 RASSF1A 甲基化和 CTNNB1 突变作为分子遗传学标志物。

Spontaneous rupture of an advanced pancreatoblastoma: aberrant RASSF1A methylation and CTNNB1 mutation as molecular genetic markers.

机构信息

Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

J Pediatr Surg. 2013 Apr;48(4):e29-32. doi: 10.1016/j.jpedsurg.2013.02.038.

DOI:10.1016/j.jpedsurg.2013.02.038
PMID:23583162
Abstract

Pancreatoblastoma is a rare pancreatic tumor that is most commonly encountered in infants and young children. This report describes an unusual presentation of a large pancreatic body pancreatoblastoma presenting with intraabdominal bleeding due to spontaneous rupture of the tumor in a 5-year-old boy. Subsequent molecular analysis from the resected specimen identified a mutation in CTNNB1 and aberrant methylation of the tumor suppressor RASSF1A.

摘要

胰腺母细胞瘤是一种罕见的胰腺肿瘤，最常见于婴儿和幼儿。本报告描述了一例不常见的巨大胰腺体部胰腺母细胞瘤表现，该患儿因肿瘤自发性破裂导致腹腔内出血。随后对切除标本的分子分析发现 CTNNB1 突变和肿瘤抑制基因 RASSF1A 的异常甲基化。

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Spontaneous rupture of an advanced pancreatoblastoma: aberrant RASSF1A methylation and CTNNB1 mutation as molecular genetic markers.胰腺母细胞瘤自发性破裂：异常 RASSF1A 甲基化和 CTNNB1 突变作为分子遗传学标志物。
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