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Systemic Mastocytosis Associated with the C-kit D816v Mutation - Importance of Molecular Diagnosis and Therapeutic Implications. Case Report
| Content Provider | Semantic Scholar |
|---|---|
| Author | Trifa, Adrian P. Pațiu, Mariana Cucuianu, Andrei Dima, Delia Militaru, Mariela S. Pop, Ioan Victor Popp, Radu Anghel |
| Copyright Year | 2010 |
| Abstract | SM (systemic mastocytosis) is a rare haematological malignancy, due to an abnormal proliferation of the mast cells; most of the patients are positive for the somatic c-KIT D816V mutation, which leads to continuous activation of the KIT tyrosine-kinase. We report on a 44 year old male patient with a slowly progressive form of SM. We investigated the c-KIT D816V mutation by AS-PCR (Allele Specific – Polymerase Chain Reaction) and found that the patient was positive for this mutation. A regimen with the tyrosine-kinases inhibitor imatinib mesylate was started, which was discontinued after 5 weeks due to lack of improvement in the patient’s clinical status. Testing for c-KIT D816V is mandatory in SM patients, since it represents a diagnostic criterion. Also, the c-KIT mutational status can guide the treatment, since the SM patients positive for c-KIT D816V are expected to be fully or partially resistant to tyrosine-kinases inhibitors. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.tmj.ro/pdf/2010_number_2_3_671588383129812.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
