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Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant
Author(s) -
Kerl Kornelius,
Oyen Florian,
Giannikopoulou Dimitra,
Rössig Claudia,
Rellensmann Georg,
Sandkötter Julia,
Brentrup Angela,
Selzer Georg,
Schneppenheim Reinhard,
Frühwald Michael C.
Publication year - 2016
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.25996
Subject(s) - multiplex ligation dependent probe amplification , smarcb1 , sanger sequencing , medicine , multiplex , atypical teratoid rhabdoid tumor , precision oncology , germline , cancer research , pathology , genetics , gene , precision medicine , biology , exon , dna sequencing , medulloblastoma , chromatin remodeling , chromatin
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.