Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant.
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.
Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, Germany.
Kornelius
K
Kerl
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Florian
F
Oyen
Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, Germany.|Department of Pediatrics, Evangelisches Krankenhaus Hamm, Hamm, Germany.
Dimitra
D
Giannikopoulou
Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, Germany.
Claudia
C
Rössig
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Georg
G
Rellensmann
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Julia
J
Sandkötter
Department of Neurosurgery, University Hospital Münster, Münster, Germany.
Angela
A
Brentrup
Department of Pediatrics, Evangelisches Krankenhaus Hamm, Hamm, Germany.
Georg
G
Selzer
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Reinhard
R
Schneppenheim
Department of Pediatric Hematology and Oncology, University Children's Hospital Münster, Münster, Germany.|Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
Michael C
MC
Frühwald
D016543:Central Nervous System Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D060885:Multiplex Polymerase Chain Reaction; D018335:Rhabdoid Tumor / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D000071796:SMARCB1 Protein / Q000235:genetics*
D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human
AT/RT; infants; rhabdoid tumor predisposition syndrome