Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma

Myxoid leiomyosarcoma (MLS) is a rare but well‐documented tumor that often portends a poor prognosis compared to the conventional leiomyosarcoma. This rare sarcoma has been reported in the uterus, external female genitalia, soft tissue, and other locations. However, a definite rectal MLS has not bee...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2024-04, Vol.63 (4), p.e23239-n/a
Main Authors: Wei, Shuanzeng, Pei, Jianming, Belser, Paul, Lee, Teresa, Farma, Jeffrey M., Patchefsky, Arthur S., Flieder, Douglas B., Montgomery, Elizabeth A.
Format: Article
Language:English
Subjects:
DNA-Binding Proteins - genetics
Female
Gene fusion
Humans
Leiomyosarcoma - genetics
Leiomyosarcoma - pathology
MicroRNAs - genetics
Middle Aged
MIR143HG::PLAG1
myxoid leiomyosarcoma
next generation sequencing
Oncogene Proteins, Fusion - genetics
Rectal Neoplasms - genetics
Rectal Neoplasms - pathology
Rectum
Sarcoma
translocation
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Summary:Myxoid leiomyosarcoma (MLS) is a rare but well‐documented tumor that often portends a poor prognosis compared to the conventional leiomyosarcoma. This rare sarcoma has been reported in the uterus, external female genitalia, soft tissue, and other locations. However, a definite rectal MLS has not been reported. Recently five cases of MLS were reported to harbor PLAG1 fusions (TRPS1::PLAG1, RAD51B::PLAG1, and TRIM13::PLAG1). In this report, we present a case of rectal MLS with a novel MIR143HG::PLAG1 fusion detected by RNA next‐generation sequencing.
ISSN:1045-2257
1098-2264
1098-2264
DOI:10.1002/gcc.23239