Acute promyelocytic leukemia co-existing with JAK2 V617F positive myeloproliferative neoplasm: a case report

Abstract

The V617F mutation of Janus-associated kinase 2 (JAK2) is commonly seen in myeloproliferative neoplasms (MPN). Transformation of JAK2 positive MPNs to acute leukemia has been reported. We here report a case of acute promyelocytic leukemia which was later confirmed to have a co-existing JAK2 V617F positive MPN. In addition, the patient was found to have FLT3-TKD mutation, which, together with PML/ RARa, could play a role in the MPN transformation to APL.

Myelodysplasia-related acute myeloid leukemia and acute promyelocytic leukemia: concomitant occurrence of two molecularly distinct diseases

“…Mamorska- Dyga et al in 2016 described a young patient with co-existing APL with JAK2 V617F positive myeloproliferative neoplasm (MPN). 8 The patient was induced with ATRA and arsenic trioxide (ATO) and developed thrombocytosis with a bone marrow biopsy that showed reticulin fibrosis, left shift of myeloid lineage and dysplastic changes. 8 The patient was refractory to ATRA and ATO treatment and was treated with cytarabine and idarubicin, and eventually with hydroxyurea and low dose aspirin.…”

“… 8 The patient was induced with ATRA and arsenic trioxide (ATO) and developed thrombocytosis with a bone marrow biopsy that showed reticulin fibrosis, left shift of myeloid lineage and dysplastic changes. 8 The patient was refractory to ATRA and ATO treatment and was treated with cytarabine and idarubicin, and eventually with hydroxyurea and low dose aspirin. 8 They hypothesize that the JAK2 V617F positive MPN clone was present first and that additional mutations on FLT3 and PML/RARA led to the development of APL.…”

“… 8 The patient was refractory to ATRA and ATO treatment and was treated with cytarabine and idarubicin, and eventually with hydroxyurea and low dose aspirin. 8 They hypothesize that the JAK2 V617F positive MPN clone was present first and that additional mutations on FLT3 and PML/RARA led to the development of APL. 8 Akin to many cases, the etiology for MDS-related AML in our patient is not clear.…”

“… 8 They hypothesize that the JAK2 V617F positive MPN clone was present first and that additional mutations on FLT3 and PML/RARA led to the development of APL. 8 Akin to many cases, the etiology for MDS-related AML in our patient is not clear. The chromosomal abnormalities found in our patient (tetraploidy, del 5q and del 7q) can occur de novo but are more commonly present in therapy-related AML/MDS (tAML/tMDS).…”

“… 5 , 6 Concurrent occurrence of APL with other hematologic diseases in the absence of therapy is even rarer; there are few anecdotal reports of plasma cell myeloma and myeloproliferative neoplasms co-existing with APL in the absence of therapy. 7 , 8 Herein, we present a case of concomitant occurrence of APL with MDS-related AML.…”