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Article

Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant.

Pediatric blood & cancer - 1 Aug 2016

Kerl Kornelius, Oyen Florian, Giannikopoulou Dimitra, Rössig Claudia, Rellensmann Georg, Sandkötter Julia, Brentrup Angela, Selzer Georg, Schneppenheim Reinhard, Frühwald Michael C

Abstract excerpt

We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

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Source

Identifiers

PMID: 27092963
DOI: 10.1002/pbc.25996

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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