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BIOMARKER:

KIT L576P

i
Other names: KIT, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Entrez ID:
11d
Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas. (PubMed, Cancers (Basel))
The germline and rare SNVs of uncertain clinical significance reported in this study add to the number of known genetic alterations in TETs, thus extending our molecular understanding of these neoplasms. Druggable KIT alterations in thymic carcinomas have potential as therapeutic targets.
Journal • Next-generation sequencing
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FOXL2 (Forkhead Box L2)
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KIT L576P • HER-2 I655V • KIT M541L • KRAS Q61L • TP53 R273C
over1year
[VIRTUAL] UNIQUE PATHOLOGY OF A KIT-MUTATED, SDH DEFICIENT GASTROINTESTINAL STROMAL TUMOR (GIST) IN A 15-YEAR-OLD PATIENT: A CASE REPORT (ASPHO 2021)
The patient is currently receiving 400mg of imatinib daily with surveillance CT scans of her abdomen and pelvis as well as chest X-rays every 3 months. The patient is currently 7 months from her tumor resection without evidence of local recurrence, pulmonary chondroma, or paraganglioma. This case report represents the first, known, published description of a pediatric patient with a combined SDH-deficient and KIT-mutated GIST.
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule)
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KIT mutation • KIT L576P
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imatinib
almost2years
[VIRTUAL] C-KIT inhibitors alone or in combination with anti-PD-1 antibodies as a therapeutic option for metastatic acral or mucosal melanoma: a case series (ADO 2020)
The 3rd patient, who was treated first-line with ipilimumab (Ipi) and Nivo, had to discontinue therapy due to autoimmune (AI) colitis grade 3 according to CTCAE. The 4th patient received multiple previous therapies (pembrolizumab (Pembro) + IDO ‐ 1 inhibitor, Ipi + Nivo, paclitaxel + nintedanib, imatinib, Nivo + LAG 3 inhibitor, imatinib)...showed a full remission with good tolerability after 6 months with pembro + nilotinib, the 2nd patient showed stable results after 2 doses of Ipi + Nivo in combination with nilotinib, but developed grade 3 AI gastritis... C ‐ KIT inhibitors alone or in combination with ICI can represent an effective treatment option with good tolerability for c ‐ KIT mutated MM after failure of standard ICI therapy and exhaustion of study therapy options.
Clinical • Combination therapy • PD(L)-1 Biomarker • IO biomarker
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LAG3 (Lymphocyte Activating 3)
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KIT mutation • KIT L576P • KIT D816V • KIT V559D
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Keytruda (pembrolizumab) • Opdivo (nivolumab) • Yervoy (ipilimumab) • imatinib • paclitaxel • Tasigna (nilotinib) • nintedanib
2years
Molecular Alterations in Vaginal Melanomas: Report of 4 Cases and Literature Review. (PubMed, Am J Dermatopathol)
In conclusion, in addition to KIT, TP53, and ATRX mutations, which have been previously reported, our cases harbor NF2 mutation and multiple gene copy alterations that have not previously been documented in vaginal melanomas. These findings highlight the potential role of targeted therapy in this rare melanoma subtype.
Clinical • Journal
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TP53 (Tumor protein P53) • GNA11 (G Protein Subunit Alpha 11) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2)
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TP53 mutation • KIT mutation • ATRX mutation • KIT L576P • NF2 mutation • TSC2 mutation