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Journal article
Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST)
BMC cancer, Vol.19(1), 913
13 Sep 2019
PMID: 31514735
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Background: Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal neoplasm of the gastrointestinal tract. Mutations of KIT and platelet-derived growth factor receptor alpha have been well characterized in GISTs. Patients with KIT mutations are generally sensitive to treatment with tyrosine kinase inhibitors. However, some patients with GIST, while initially sensitive to TKIs, gain resistance in later stages of treatment. Heterologous rhabdomyomsarcomatous dedifferentiation of advanced GISTs after long-term imatinib mesylate (IM) therapy has been reported. In these cases, the underlying molecular mechanism of tumor progression and transformation is unclear.
Case presentation: We report one such patient with rhabdomyosarcomatous dedifferentiation of a GIST without metastatic disease after brief 3-month therapy with IM. The tumor was composed of two distinct phenotypes, a CD117 negative region with rhabdomyosarcomatous differentiation directly adjacent to a CD117 positive classic GIST region. Molecular analysis identified the activating KIT exon 11 mutation in both regions, indicating a common origin for both phenotypes. Additionally, the dedifferentiated component contained two synonymous variants in platelet-derived growth factor receptor alpha and KIT. The increased number of synonymous variants in the rhabdomyosarcomatous region may reflect increased genetic instability of this tumor that may have resulted in the loss of CD117 expression in the dedifferentiated component.
Conclusion: This study adds to the growing consensus that rhabdomyosarcomatous GIST progresses from a common GIST primary tumor. The role of IM in this progression is uncertain; however short duration of IM treatment in this study supports the hypothesis that rhabdomyosarcomatous GIST progression is not a consequence of IM therapy. Furthermore, we provide additional information supporting the observation that CD117 negative rhabdomyosarcomatous transformation maintains the activating KIT variant without KIT expression.
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Details
- Title
- Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST)
- Creators
- Li Li - Drexel University, Pathology (and Laboratory Medicine)Marian Khalili - Drexel University, SurgeryGregg Johannes - Drexel University, Pathology (and Laboratory Medicine)Praneeth Baratam - Drexel University, Hematology and OncologyWilliam F. Morano - Drexel University, SurgeryMichael Styler - Drexel University, Hematology and OncologyWilbur B. Bowne - Drexel University, SurgeryJ. Steve Hou - Drexel University, Pathology (and Laboratory Medicine)
- Publication Details
- BMC cancer, Vol.19(1), 913
- Publisher
- BioMed Central
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Hematology and Oncology; Pathology (and Laboratory Medicine); Surgery
- Web of Science ID
- WOS:000485875200001
- Scopus ID
- 2-s2.0-85072149945
- Other Identifier
- 991021860789404721
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- Oncology