From Serous Tubal Intraepithelial Carcinoma to Neuroendocrine Carcinoma: Molecular Dissection of a Rare Fallopian Tube Carcinoma.

IF 1.7 4区 医学 Q3 OBSTETRICS & GYNECOLOGY
Jesús Machuca-Aguado, Carmen Alfonso-Rosa, Antonio García-Escudero, Francisco Javier Rubio-Garrido, Inmaculada Trigo, Tatiana Cano-Barbadillo, W Glenn McCluggage
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引用次数: 0

Abstract

Primary neuroendocrine carcinoma (NEC) of the fallopian tube is exceptionally rare, with only a small number of cases reported. We report an unusual case in a 77-yr-old woman where a fallopian tube was involved by serous tubal intraepithelial carcinoma (STIC), a small component of high-grade serous carcinoma (HGSC), and a predominant component of small cell neuroendocrine carcinoma (SCNEC). Molecular analysis of microdissected different elements supported a clonal origin, with both tumor components (STIC/HGSC and SCNEC) displaying homologous recombination deficiency and a shared TP53 mutation, while the neuroendocrine component uniquely exhibited 4q deletion and additional DNA repair gene mutations in PALB2 and CHEK2.

从浆液性输卵管上皮内癌到神经内分泌癌:一例罕见输卵管癌的分子解剖。
原发性输卵管神经内分泌癌(NEC)极为罕见,仅有少数病例报道。我们报告一个不寻常的病例,77岁的女性,输卵管被浆液性输卵管上皮内癌(STIC),高级别浆液性癌(HGSC)的一小部分,和小细胞神经内分泌癌(SCNEC)的主要组成部分累及。微解剖的不同元件的分子分析支持克隆起源,两个肿瘤成分(STIC/HGSC和SCNEC)显示同源重组缺陷和共享TP53突变,而神经内分泌成分独特地显示4q缺失和额外的PALB2和CHEK2 DNA修复基因突变。
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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
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