Sequencing of an adolescent patient with germline RET mutant alveolar rhabdomyosarcoma

An adolescent patient presented with an alveolar rhabdomyosarcoma made more unique by the presence of a germline RET mutation ordinarily associated with and a known driver of multiple endocrine neoplasia type 2A (MEN2A) cancer. To better understand the role of this germline RET mutation in the genetics and phenotypic response of this unique alveolar rhabdomyosarcoma, we performed DNA and RNA sequencing of the patients in addition to functional studies on patient-derived cultures and genetically similar similar cell models.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 3 Publications

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Dataset ID	Description	Technology	Samples
EGAD00001006125	Whole exome sequencing of an alveolar rhabdomyosarcoma patient with RET germline mutation and subsequent analysis of potential therapeutic mechanisms associated with the patient's rare germline mutation. Patient sampels were sequenced from an initial biopsy and from a relapse biopsy, in addition to normal blood as the matched normal DNA. RNA sequencing was performed on the relapse sample as initial sample was unable to produce usable RNA for analysis.	Illumina HiSeq 4000	4

Publications	Citations
Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma. Crawford KA, Berlow NE, Tsay J, Lazich M, Mancini M, Noakes C, Huang T, Keller C. Cold Spring Harb Mol Case Stud 6: 2020 a004853	1
Defining the Extracellular Matrix of Rhabdomyosarcoma. Lian X, Bond JS, Bharathy N, Boudko SP, Pokidysheva E, Shern JF, Lathara M, Sasaki T, Settelmeyer T, Cleary MM, Bajwa A, Srinivasa G, Hartley CP, Bächinger HP, Mansoor A, Gultekin SH, Berlow NE, Keller C. Front Oncol 11: 2021 601957	7
Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma. Berlow NE, Crawford KA, Bult CJ, Noakes C, Sloma I, Rudzinski ER, Keller C. Cold Spring Harb Mol Case Stud 7: 2021 a006049	0