AMP case report: Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET
August 2019–Newly discovered pathogenic variants in BCR-ABL1-negative myeloproliferative neoplasms (i.e. polycythemia vera, essential thrombocythemia, primary myelofibrosis) led to recent revisions of the World Health Organization diagnostic criteria. Initially JAK2 V617F, MPL (MPL W515K/L), and calreticulin (CALR) exon 9 gene pathogenic variants were deemed mutually exclusive in patients with essential thrombocythemia and primary myelofibrosis. However, coexisting somatic variants in both JAK2 V617F and CALR have been reported with variable frequency, ranging from less than one percent and up to 6.8 percent depending on the employed molecular technique.