Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing

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• 作者：Louis de Mestier^a ; Eric Pasmant^b ; ^c ; Clé ; mence Fleury^d ; Hedia Brixi^a ; Pierre Sohier^b ; ^c ; Thomas Fé ; ron^a ; Marie-Daniè ; le Diebold^d ; Eric Clauser^b ; ^e ; Guillaume Cadiot^a ; ^{gcadiot@chu-reims.fr} ; for the Groupe d&rsquo ; É ; tude des Tumeurs Endocrines
• 关键词：Carcinoid tumors ; Familial ; Neuroendocrine tumors ; Small intestine
• 刊名：Digestive and Liver Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：49
• 期：1
• 页码：98-102
• 全文大小：1442 K
• 卷排序：49

文摘

Familial small-intestine neuroendocrine tumors (SI-NETs) are an exceptional inherited entity. Underlying predisposing mechanisms are unelucidated, but inositol polyphosphate multikinase (IPMK) gene alterations might promote their tumorigenesis.MethodsA retrospective-prospective nationwide cohort was constituted, by including patients with proven SI-NETs and at least one relative with the same disease. We performed constitutional and somatic IPMK sequencing, and somatic DNA comparative genomic hybridization (CGH).ResultsWe included 17 patients from 8 families, who were characterized by high prevalence (57%) of multiple SI-NETs, and high frequency of distant metastases (82%) and carcinoid syndrome (65%). No IPMK mutation was found in constitutional or tumor DNA. CGH array revealed recurrent chromosome-18 deletions but no alteration in the IPMK region.ConclusionWe report here the first European series of patients with familial SI-NETs. Predisposing mechanisms may not involve the IPMK-encoding sequence or chromosomal region and might not differ from those of sporadic SI-NETs.