scholarly journals Platelet-Derived Growth Factor Receptor-Alpha D842v Mutation in a Spindle Cell Type Gastrointestinal Stromal Tumor: A Case Report

2018 ◽  
Vol 3 (1) ◽  
pp. 16-19
Author(s):  
Jenissa Amor Arceño ◽  
◽  
Kathleen Chua ◽  
Loraine Kay Cabral ◽  
Arlie Jean Dumasis ◽  
...  
Keyword(s):  
Case Report ◽  
Growth Factor ◽  
Gastrointestinal Stromal Tumor ◽  
Spindle Cell ◽  
Growth Factor Receptor ◽  
Platelet Derived Growth Factor ◽  
Cell Type ◽  
Receptor Alpha ◽  
Factor Receptor Alpha ◽  
Spindle Cell Type

scholarly journals Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST)

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Li Li ◽  
Marian Khalili ◽  
Gregg Johannes ◽  
Praneeth Baratam ◽  
William F. Morano ◽  
...  
Keyword(s):  
Growth Factor ◽  
Gastrointestinal Stromal Tumor ◽  
Kinase Inhibitors ◽  
Growth Factor Receptor ◽  
Stromal Tumor ◽  
Platelet Derived Growth Factor ◽  
Receptor Alpha ◽  
Additional Information ◽  
Factor Receptor Alpha ◽  
Mesenchymal Neoplasm

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.

scholarly journals A Case of Gastric Gastrointestinal Stromal Tumor with Platelet Derived Growth Factor Receptor Alpha Mutation

2009 ◽  
Vol 42 (12) ◽  
pp. 1785-1790
Author(s):  
Hiroshi Nimura ◽  
Naoto Takahashi ◽  
Atsushi Watanabe ◽  
Sigeo Yamashita ◽  
Hironori Ohdaira ◽  
...  
Keyword(s):  
Growth Factor ◽  
Gastrointestinal Stromal Tumor ◽  
Growth Factor Receptor ◽  
Stromal Tumor ◽  
Platelet Derived Growth Factor ◽  
Receptor Alpha ◽  
Factor Receptor Alpha
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