Medulloblastoma (MB) is the most common malignant brain tumor of children. To identify the
genetic alterations in this tumor type, we searched for copy number alterations using high-…

Histone acetylation plays important roles in gene regulation, DNA replication, and the response
to DNA damage, and it is frequently deregulated in tumors. We postulated that tumor cell …

Malignant rhabdoid tumor (MRT) can occur in the kidney, central nervous system, or
extracranial/extrarenal locations and is characterized by alterations in the SMARCB1 gene. The …

Somatic mutations in isocitrate dehydrogenase 1 or 2 (IDH1/2) contribute to the pathogenesis
of cancer via production of the "oncometabolite" D-2-hydroxyglutarate (D-2HG). Elevated D…

Background Germline mutations and deletions of SMARCB1/INI1 in chromosome band
22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates …

Atypical teratoid/rhabdoid tumor (AT/RT) may be misdiagnosed as primitive neuroectodermal
tumor/medulloblastoma (PNET) and occasionally as other tumors. Molecular genetic …

Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm that occasionally demonstrates
phenotypic overlap with other soft tissue malignancies. Molecular genetic analysis of …

Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain tumors of early
childhood poorly responding to therapy. The majority of cases show inactivation of SMARCB1 (…

H3F3A mutations are seen in ∼30% of pediatric glioblastoma ( GBMs ) and involve either
the lysine residue at position 27 ( K27M ) or glycine at position 34 ( G34R/V ). Sixteen genes …

Immunohistochemical staining for INI1 (BAF47) expression has been recently described.
Loss of expression of INI1 as detected by immunohistochemical staining correlates with …