当前位置:科学网首页 > 小柯机器人 >详情
垂体神经内分泌肿瘤的全基因组分型
作者:小柯机器人 发布时间:2019/12/27 14:52:24

法国科钦研究所Guillaume Assié团队揭示了垂体神经内分泌肿瘤的全基因组分型。相关论文在线发表在2019年12月26日出版的《癌细胞》杂志上。

研究人员揭示了PitNET全面的基因组分类。来源于甲状腺营养型(POU1F1 / PIT1谱系)的PitNETs表现出弥漫性DNA低甲基化的表观遗传学特征,同时伴随转座子表达和染色体不稳定性(除GNAS突变的躯体营养型外)。在TPIT谱系中,皮层营养体分为三类:具有特异分泌物的USP8突变型、浸润性增强和上皮-间质转化增加的USP8野生型以及促性腺激素转分化产生的大而沉默的肿瘤。

意外的,GNAS野生型的躯体营养型动物(SF1表达)也发现表达性腺营养标记物,这对当前定义的SF1 /性腺营养谱系提出了质疑。这种分类提高了人类对PitNETs的理解并影响了PitNETs患者的临床分期。

据悉,垂体神经内分泌肿瘤(PitNETs)很常见的肿瘤类型,其有五种主要的组织亚型:乳营养型、躯体营养型和甲状腺营养型(POU1F1 / PIT1谱系)、皮质激素(TBX19 / TPIT谱系)和促性腺激素型(NR5A1 / SF1谱系)。

附:英文原文

Title: Pangenomic Classification of Pituitary Neuroendocrine Tumors

Author: Mario Neou, Chiara Villa, Roberta Armignacco, Anne Jouinot, Marie-Laure Raffin-Sanson, Amandine Septier, Franck Letourneur, Ségolène Diry, Marc Diedisheim, Brigitte Izac, Cassandra Gaspar, Karine Perlemoine, Victoria Verjus, Michèle Bernier, Anne Boulin, Jean-Franois Emile, Xavier Bertagna, Florence Jaffrezic, Denis Laloe, Bertrand Baussart, Jérme Bertherat, Stephan Gaillard, Guillaume Assié

Issue&Volume: December 26, 2019

Abstract: Pituitary neuroendocrine tumors (PitNETs) are common, with five main histological subtypes: lactotroph, somatotroph, and thyrotroph ( POU1F1/PIT1 lineage); corticotroph ( TBX19/TPIT lineage); and gonadotroph ( NR5A1/SF1 lineage). We report a comprehensive pangenomic classification of PitNETs. PitNETs from POU1F1/PIT1 lineage showed an epigenetic signature of diffuse DNA hypomethylation, with transposable elements expression and chromosomal instability (except for GNAS-mutated somatotrophs). In TPIT lineage, corticotrophs were divided into three classes: the USP8-mutated with overt secretion, the USP8-wild-type with increased invasiveness and increased epithelial-mesenchymal transition, and the large silent tumors with gonadotroph transdifferentiation. Unexpected expression of gonadotroph markers was also found in GNAS-wild-type somatotrophs (SF1 expression), challenging the current definition of SF1/gonadotroph lineage. This classification improves our understanding and affects the clinical stratification of patients with PitNETs.

DOI: 10.1016/j.ccell.2019.11.002

Source: https://www.cell.com/cancer-cell/fulltext/S1535-6108(19)30522-7

期刊信息

Cancer Cell:《癌细胞》,创刊于2002年。隶属于细胞出版社,最新IF:23.916
官方网址:https://www.cell.com/cancer-cell/home
投稿链接:https://www.editorialmanager.com/cancer-cell/default.aspx