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Ectopic intracranial retinoblastoma in a 3.5‐month‐old infant without eye involvement and without evidence of heritability
Author(s) -
Römer Tristan,
Temming Petra,
Lohmann Dietmar R.,
Sturm Dominik,
Deimling Andreas,
Sellhaus Bernd,
Mull Michael,
Kontny Udo,
Moser Olga
Publication year - 2019
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.27599
Subject(s) - retinoblastoma , medicine , germline mutation , histopathology , somatic cell , germline , pathology , oncology , mutation , gene , genetics , biology
Abstract Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an unusual midline brain tumor in an infant that was identified as ectopic retinoblastoma by histopathology, DNA methylation analysis, and molecular genetic detection of biallelic somatic inactivation of the RB1 gene. There was no ocular involvement, and germline mutation was excluded. In this nonresectable tumor, treatment with systemic chemotherapy including high‐dose therapy with autologous stem cell transplantation, but without definite local therapy, resulted in long‐lasting tumor control.