MPL W515/S505 Mutation Analysis, Bone Marrow

The MPL gene, also known as the myeloproliferative leukaemia virus oncogene, plays a crucial role in regulating the production of blood cells in the bone marrow. Mutations or alterations in the MPL gene can lead to various blood disorders. The "MPL W515/S505 Mutation Analysis, Bone marrow" test is used to detect mutations in the MPL gene, specifically in Codon W515 and Codon S505. Its clinical utility lies in suspected cases of essential thrombocythemia (ET) and primary myelofibrosis (PMF) where the presence of the Jak2 V617F mutation is negative. Essential thrombocythemia and primary myelofibrosis are myeloproliferative neoplasms characterized by abnormal blood cell production. The Jak2 V617F mutation is commonly associated with these conditions, but in some cases, it may not be present, leading to diagnostic uncertainty. In such situations, testing for MPL mutations in Codon W515 and Codon S505 in bone marrow samples becomes crucial, as detecting these mutations can confirm the diagnosis of ET or PMF. Identifying MPL mutations provides valuable diagnostic information, enabling accurate classification and management of these hematological disorders.