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Malignant brain tumor in an infant showing histopathological features of yolk sac tumor but genetic and epigenetic features of AT/RT
Author(s) -
Nakano Yoshiko,
Satomi Kaishi,
Okada Keiko,
Gotoh Masahiro,
Ushiama Mineko,
Sakamoto Hiromi,
Yoshida Teruhiko,
Kunihiro Noritsugu,
Hira Kouta,
Fukushima Hiroko,
Inoue Takeshi,
Hirato Junko,
Ichimura Koichi,
Hara Junichi
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29192
Subject(s) - smarca4 , medulloblastoma , medicine , yolk sac , atypical teratoid rhabdoid tumor , pathology , epigenetics , teratoma , brain tumor , pathogenesis , biology , gene , embryo , genetics , chromatin remodeling
Abstract SMARCA4 pathogenic variants are rarely detected in pediatric brain tumors other than atypical teratoid rhabdoid tumors (AT/RTs) without INI1 deficiency or in some cases of medulloblastoma. Here, we report an atypical intracranial immature teratoma that recurred as a yolk sac tumor with metastatic spinal and lung lesions. Sequencing of the tumor revealed two SMARCA4 variants, including a splice‐site variant and a non‐synonymous variant of uncertain significance. Additionally, the methylation signature of the tumor was close to that of AT/RTs. Our case might be a yet‐unrecognized subtype of pediatric tumors in which inactivation of SMARCA4 contributes to the pathogenesis.