Platelet Derived Growth Factor Receptor- Alpha D842v Mutation in a Spindle Cell Type Gastrointestinal Stromal Tumor: A Case Report
Keywords:
gastrointestinal stromal tumor (GIST), platelet derived growth factor receptor-alpha (PDGFRA)Abstract
Molecular genotyping of gastrointestinal stromal tumors is not yet available in the Philippines. We report a case of a 75-year old male with a gastric submucosal mass, who underwent gastroscopic/laparoscopic wedge resection. Histopathology and subsequent immunohistochemical staining with CD117 (CKIT) and DOG1 revealed diagnosis of gastrointestinal stromal tumor, spindle cell variant. On genotyping, the tumor harbored PDGFRA D842V mutation, a subtype resistant to Imatinib treatment.
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References
1. Miettinen M, Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Path Lab Med. 2006;130(10)1466-78. PMID: 17090188.
2. Pogorzelski M, Falkenhorst J, Bauer S. Molecular subtypes of gastrointestinal stromal tumor requiring specific treatments. Curr Opin Oncol. 2016;28(4):331-7. PMID: 27163723. https://doi.org/10.1097/CCO.0000000000000303.
3. Xu Z, Huo X, Tang C, et al. Frequent KIT mutations in human gastrointestinal stromal tumors. Sci Rep. 2014;4:5907. PMID: 25080996. PMCID: PMC4118194.https://doi.org/10.1038/srep05907.
4. Comandone A, Boglione A. The importance of mutational status in prognosis and therapy of GIST. Recenti Prog Med. 2015;106(1):17-22. PMID: 25621775. https://doi.org/10.1701/1740.18950.
5. Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol. 2003;21(23):4342-9. PMID: 14645423. https://doi.org/10.1200/JCO.2003.04.190.
6. Nilsson B, Bumming P, Meis-Kindblom JM, et al. Gastrointestinal stromal tumor: the incidence, prevalence, clinical course and prognostication in the preimatinib mesylate ear – a population-based study in western Sweden. Cancer. 2005;103(4):821-9. PMID: 15648083. https://doi.org/10.1002/cncr.20862.
7. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology. 2008;53(3):245–66. PMID: 18312355. https://doi.org/10.1111/j.1365-2559.2008.02977.x.
8. Emile JF, Brahimi S, Coindre JM, et al. Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs. Med Oncol. 2012;29(3):1765–72. PMID: 21953054. https://doi.org/10.1007/s12032-011-0074-y.
9. Cassier PA, Ducimetière F, Lurkin A, et al. A prospective epidemiological study of new incident GISTs during two consecutive years in Rhone Alpes region: incidence and molecular distribution of GIST in a European region. Br J Cancer. 2010; 103(2):165–70. PMCID: PMC2906738. https://doi.org/10.1038/sj.bjc.6605743.
10. Liang YM, Li XH, Lü YY, Lü YL, Zhong M, Pu XL, Li WM. Prognostic significance of clinicopathologic parameters in gastrointestinal stromal tumor: a study of 156 cases. Zhonghua Bing Li Xue Za Zhi. 2007;36(4):233-8. PMID: 17706113.
11. Tan CB, Zhi W, Shahzad G, Mustacchia P. Gastrointestinal stromal tumors: a review of case reports, diagnosis, treatment and future directions. ISRN Gastroenterol. 2012 2012: 595968. PMID: 22577569. PMCID: PMC3332214. https://doi.org/10.5402/2012/595968.
12. Corless CL, Shroeder A, Griffith D, et al. PDGFRA mutations in GISTs: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol. 2005;23(23):5357-64. PMID: 15928335. https://doi.org/10.1200/JCO.2005.14.068.
13. Yoo C, Ryu M, et al. Efficacy of imatinib in patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors. Cancer Res Treat. 2016;48(2):546-52. PMCID: PMC4843750. https://doi.org/10.4143/crt.2015.015.
2. Pogorzelski M, Falkenhorst J, Bauer S. Molecular subtypes of gastrointestinal stromal tumor requiring specific treatments. Curr Opin Oncol. 2016;28(4):331-7. PMID: 27163723. https://doi.org/10.1097/CCO.0000000000000303.
3. Xu Z, Huo X, Tang C, et al. Frequent KIT mutations in human gastrointestinal stromal tumors. Sci Rep. 2014;4:5907. PMID: 25080996. PMCID: PMC4118194.https://doi.org/10.1038/srep05907.
4. Comandone A, Boglione A. The importance of mutational status in prognosis and therapy of GIST. Recenti Prog Med. 2015;106(1):17-22. PMID: 25621775. https://doi.org/10.1701/1740.18950.
5. Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol. 2003;21(23):4342-9. PMID: 14645423. https://doi.org/10.1200/JCO.2003.04.190.
6. Nilsson B, Bumming P, Meis-Kindblom JM, et al. Gastrointestinal stromal tumor: the incidence, prevalence, clinical course and prognostication in the preimatinib mesylate ear – a population-based study in western Sweden. Cancer. 2005;103(4):821-9. PMID: 15648083. https://doi.org/10.1002/cncr.20862.
7. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology. 2008;53(3):245–66. PMID: 18312355. https://doi.org/10.1111/j.1365-2559.2008.02977.x.
8. Emile JF, Brahimi S, Coindre JM, et al. Frequencies of KIT and PDGFRA mutations in the MolecGIST prospective population-based study differ from those of advanced GISTs. Med Oncol. 2012;29(3):1765–72. PMID: 21953054. https://doi.org/10.1007/s12032-011-0074-y.
9. Cassier PA, Ducimetière F, Lurkin A, et al. A prospective epidemiological study of new incident GISTs during two consecutive years in Rhone Alpes region: incidence and molecular distribution of GIST in a European region. Br J Cancer. 2010; 103(2):165–70. PMCID: PMC2906738. https://doi.org/10.1038/sj.bjc.6605743.
10. Liang YM, Li XH, Lü YY, Lü YL, Zhong M, Pu XL, Li WM. Prognostic significance of clinicopathologic parameters in gastrointestinal stromal tumor: a study of 156 cases. Zhonghua Bing Li Xue Za Zhi. 2007;36(4):233-8. PMID: 17706113.
11. Tan CB, Zhi W, Shahzad G, Mustacchia P. Gastrointestinal stromal tumors: a review of case reports, diagnosis, treatment and future directions. ISRN Gastroenterol. 2012 2012: 595968. PMID: 22577569. PMCID: PMC3332214. https://doi.org/10.5402/2012/595968.
12. Corless CL, Shroeder A, Griffith D, et al. PDGFRA mutations in GISTs: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol. 2005;23(23):5357-64. PMID: 15928335. https://doi.org/10.1200/JCO.2005.14.068.
13. Yoo C, Ryu M, et al. Efficacy of imatinib in patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors. Cancer Res Treat. 2016;48(2):546-52. PMCID: PMC4843750. https://doi.org/10.4143/crt.2015.015.
Published
02/07/2018
How to Cite
Arceño, J. A., Chua, K., Cabral, L. K., Dumasis, A. J. G., Andal, J. J., Lo, R., … Ang, D. (2018). Platelet Derived Growth Factor Receptor- Alpha D842v Mutation in a Spindle Cell Type Gastrointestinal Stromal Tumor: A Case Report. PJP, 3(1), 16. Retrieved from https://philippinejournalofpathology.org/index.php/PJP/article/view/87
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