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Ref Type Journal Article
PMID (28514312)
Authors Zick A, Peretz T, Lotem M, Hubert A, Katz D, Temper M, Rottenberg Y, Uziely B, Nechushtan H, Meirovitz A, Sonnenblick A, Sapir E, Edelman D, Goldberg Y, Lossos A, Rosenberg S, Fried I, Finklstein R, Pikarsky E, Goldshmidt H
Title Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.
Abstract Text Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation.A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature.The team generated a treatment plan, targeting specific mutations, for 41 out of 64 cases. Three patients died before results were available. For 32 patients, the treating oncologists chose not to include the panel recommendation in the treatment plan for various reasons. Nine patients were treated as recommended by the panel, 5 with clinical benefit, and 4 with disease progression.This study suggests that routine use of massive parallel tumor sequencing is feasible and can judiciously affect treatment decisions when coupled with multidisciplinary team-based decision making. Administration of personalized based therapies at an earlier stage of disease, expansion of genetic alterations examined, and increased availability of targeted therapies may lead to further improvement in the clinical outcome of metastatic cancer patients.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ABL1 G250R ABL1 G251D oral cavity cancer no benefit Nilotinib Case Reports/Case Series Actionable In a clinical case study, Tasigna (nilotinib) treatment resulted in no benefit in a patient with oral cavity cancer harboring ABL1 G250R and G251D (PMID: 28514312). 28514312
PIK3CA I391M uterine cancer predicted - sensitive Sirolimus Case Reports/Case Series Actionable In a clinical case study, a uterine cancer patient harboring PIK3CA I391M demonstrated stable disease when treated with Rapamune (sirolimus) (PMID: 28514312). 28514312
KIT D816V NRAS Q61R melanoma no benefit Pembrolizumab + Trametinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient harboring KIT D816V and NRAS Q61R demonstrated progressive disease when treated with a combination of Mekinist (trametinib) and Keytruda (pembrolizumab) (PMID: 28514312). 28514312
ATM mut NRAS Q61R melanoma predicted - sensitive Binimetinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient harboring an ATM mutation and NRAS Q61R demonstrated a partial response and 16 month progression free survival when treated with Binimetinib (MEK162) (PMID: 28514312). 28514312
BRAF V600E TP53 Q192K colon cancer predicted - sensitive Panitumumab + Vemurafenib Case Reports/Case Series Actionable In a clinical case study, a colon cancer patient harboring BRAF V600E and TP53 Q192K demonstrated a partial response when treated with a combination of Zelboraf (vemurafenib) and Vectibix (panitumumab) (PMID: 28514312). 28514312