Asset Details
Do you wish to reserve the book?
A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant
Do you wish to request the book?
A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant
2025
Overview
Atypical teratoid rhabdoid tumors (AT/RT) are characterized by a poor prognosis and a manifestation within the first 2 years of life. Genetic hallmark of these tumors is the homozygous inactivation of SMARCB1 or, in some rare cases, of SMARCA4. While heterozygous pathogenic variants of SMARCA4 have been described, inter alia, in the context of other CNS malignancies such as medulloblastoma or glioblastoma, the co-occurrence of pathogenic variants in both, SMARCB1 and SMARCA4, in the same AT/RT has to our knowledge not been reported previously. Liquid biopsy, a rapidly developing and promising technique measuring cell-free DNA (cfDNA) in body fluids such as the cerebrospinal fluid (CSF), offers a minimally invasive method to assess disease status. It has yet to be established as a standard procedure in the diagnostic workup of CNS tumors. We present the case of a three-year-old male diagnosed with an AT/RT that exhibits both biallelic alterations of SMARCB1 due to a frameshift mutation and loss of heterozygosity as well as a heterozygous missense variant in SMARCA4 presenting with early disease progression. We employed liquid biopsy successfully to monitor disease progression throughout treatment and the subsequent relapse. We highlight the ramifications that simultaneous alterations in two chromatin-modifying genes may have for tumor biology and clinical course.
Publisher
BioMed Central,BioMed Central Ltd,BMC
