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Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an ALK germline mutation
Author(s) -
Kudo Ko,
Ueno Hiroo,
Sato Tomohiko,
Kubo Kaori,
Kanezaki Rika,
Kobayashi Akie,
Kamio Takuya,
Sasaki Shinya,
Terui Kiminori,
Kurose Akira,
Yoshida Kenichi,
Shiozawa Yusuke,
Toki Tsutomu,
Ogawa Seishi,
Ito Etsuro
Publication year - 2018
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22676
Subject(s) - germline , germline mutation , neuroblastoma , biology , genetics , mutation , exome sequencing , phenotype , gene duplication , carcinogenesis , somatic cell , cancer research , anaplastic lymphoma kinase , gene , medicine , pathology , cell culture , malignant pleural effusion , lung cancer
The authors report two siblings with familial neuroblastoma with a germline R1275Q mutation of the tyrosine kinase domain of ALK . Whole exome sequencing and copy number variation assay were performed to investigate genetic alterations in the two cases. No common somatic mutations or gene polymorphisms related to the tumorigenesis of neuroblastoma were detected. A distinct pattern involving both segmental chromosomal alteration and MYCN amplification was detected. The diversity of biological behavior of familial neuroblastoma harboring a germline ALK mutation may depend on conventional prognostic factors, such as segmental chromosomal alterations and MYCN amplification, rather than additional acquired mutations.