Myeloid neoplasms with isolated del(5q) and JAK2 V617F mutation: a “grey zone” combination of myelodysplastic and myeloproliferative features?

Abstract

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Evolution of severe (transfusion‐dependent) anaemia in myelodysplastic syndromes with 5q deletion is characterized by a macrophage‐associated failure of the eythropoietic niche

“…All patients were checked for JAK2, myeloproliferative leukaemia protein (MPL) and calreticulin (CALR) mutations 28 using next-generation sequencing as described earlier. 29 TP53 mutation status was determined on the basis of at least 1% marrow cells with strong nuclear p53 protein expression as presented by Saft et al 18,30…”

Hybrid or Mixed Myelodysplastic/Myeloproliferative Disorders – Epidemiological Features and Overview

“…On the other hand, the most recent and most extensive publication on this small subgroup of MDS patients by Sangiorgio et al. ( 21 ) shows that median cell counts regarding platelets, but also WBC, and even red blood cell counts, are higher when compared to MDS with del(5q) and JAK2 -wildtype. 3 patients did not even meet the criteria for MDS and del(5q) because they lacked sufficient cytopenias.…”

“…Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) was initially proposed as a provisional entity in the WHO 2001 classification of myeloid neoplasms (20) and only 2016 recognized as a formal subgroup (MDS/MPN-RS-T) of MDS/MPN by the latest version of the WHO-classification (1). Additional entities that have been discussed and might represent separate entities of MDS/MPN in future classifications are MDS with isolated del(5q) and JAK2-V617F mutation and MDS/MPN with isolated isochromosome 17q (21)(22)(23)(24)(25)(26)(27)(28)(29)(30).…”

Myelodysplastic syndromes and overlap syndromes

“…These cases are classified within the category of MDS with isolated del(5q) according to the 2016 WHO criteria ( Table 1 ) [ 5 , 6 ]. Myeloid neoplasms with concomitant JAK2 mutation and del(5q) may show overlapping myelodysplastic and myeloproliferative features [ 5 , 35 - 39 ]; however, these mutations do not appear to alter the disease phenotype [ 5 ]. Despite insufficient data, such cases could benefit from a combined therapeutic approach with lenalidomide and a JAK2 inhibitor [ 35 , 39 , 40 ].…”

“…Myeloid neoplasms with concomitant JAK2 mutation and del(5q) may show overlapping myelodysplastic and myeloproliferative features [ 5 , 35 - 39 ]; however, these mutations do not appear to alter the disease phenotype [ 5 ]. Despite insufficient data, such cases could benefit from a combined therapeutic approach with lenalidomide and a JAK2 inhibitor [ 35 , 39 , 40 ]. In contrast to generally favorable prognoses in SF3B1 -mutated cases, patients with other splicing factor mutations, including mutations in U2AF1 and SRSF2 genes, display poor overall survival [ 17 , 41 - 44 ].…”