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Interpretation 323
Tier 2
KIT
Variants
Primary Sites
Thymus
Tumor Types
Thymic Carcinoma
Interpretation

KIT is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Somatic mutations of KIT are only identified in ~ 4% of thymic carcinoma, but KIT protein overexpression has been observed in up to 88% of cases. Valine at amino acid position 560 (V560) is located in exon 11 within the juxtamembrane domain of KIT, and an in-frame deletion of V560 results in an activating mutation. A case report has described a patient with thymic carcinoma harboring KIT V560del who had a partial response to imatinib. In another case, patient who has kit mutation in his thymic carcinoma achieved 27 moths of disease control with imatinib followed by sunitinib. Results should be interpreted in conjunction with other laboratory and clinical findings.

Citations
  1. Yoh K, et al. Mutational status of EGFR and KIT in thymoma and thymic carcinoma. Lung Cancer 2008;62(3):316-20
  2. Schirosi L, et al. Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. Ann Oncol 2012;23(9):2409-14
  3. Strobel P, et al. Thymic carcinoma with overexpression of mutated KIT and the response to imatinib. N Engl J Med 2004;350(25):2625-6
  4. Buti S, et al. Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. J Clin Oncol 2011;29(33):e803-5
  5. Hirai F, et al. <i>c-kit</i> mutation-positive advanced thymic carcinoma successfully treated as a mediastinal gastrointestinal stromal tumor: A case report. Mol Clin Oncol 2016;4(4):527-529
Last updated: 2017-03-14 02:16:03 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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