scout

August 2018

Polycythemia vera is a myeloproliferative neoplasm characterized by clonal hematopoiesis and an absolute increase in the red blood cell mass, with an associated leukocytosis and thrombocytosis. Virtually all patients with PV harbor a mutation in the nonreceptor tyrosine kinase JAK2, with the majority of patients harboring the classic JAK2.

Results from a prospective study involving 15,045 tumor samples that underwent next-generation sequencing using MSK-IMPACT and microsatellite-instability testing demonstrate that MSI-high and DNA mismatch-repair deficient tumors are predictive of Lynch syndrome across all tumor types. The results suggest that LS-associated cancers may be more heterogeneous than previously suspected.