| First Author | Swaminathan M | Year | 2019 |
| Journal | Acta Haematol | Volume | 141 |
| Issue | 1 | Pages | 23-27 |
| PubMed ID | 30463063 | Mgi Jnum | J:328639 |
| Mgi Id | MGI:7338917 | Doi | 10.1159/000494427 |
| Citation | Swaminathan M, et al. (2019) Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript. Acta Haematol 141(1):23-27 |
| abstractText | Myeloproliferative neoplasms (MPNs) are clonal disorders divided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) or Ph chromosome-negative MPNs. Co-occurrence of these disease entities is very rare and typically involves presence of common p190 or p210 BCR/ABL fusion transcript (responsible for CML) along with JAK2V617F mutation (most common driver mutation in Ph-negative MPNs). Because of the rarity of such cases, it is not clear if the outcomes are any different in these patients. In this article, we report a unique patient with polycythemia vera driven by a rare complex in-frame deletion-insertion mutation in JAK2 exon 12, and CML driven by uncommon p210 e14a3 (b3a3) BCR/ABL fusion transcript. We describe clinical and laboratory features, bone marrow pathology, treatment, and overall outcome. |
