“Reversible” Myelodysplastic Syndrome or ineffectual clonal haematopoiesis? - add(6p) myeloid neoplasm with a spontaneous cytogenetic remission

Myelodysplastic syndromes (MDS) are a heterogeneous group of malignant stem cell disorders characterised by ineffective, dysplastic, clonal haematopoiesis. The acquisition of mutations in a haematopoietic cell, due to aging or secondary genetic insults, drives clonal expansion and confers an increased risk of neoplasia [1,2]. In the pre-malignant state, this phenomenon is known as clonal haematopoiesis of indeterminate potential (CHIP)2. Subsequent expansion of the founding clone and sequential acquisition of additional driver mutations, typically promoting self-renewal and a proliferative advantage, together with a dysfunctional bone marrow microenvironment contribute to the transition to clinically manifest MDS [2].

Source: Leukemia Research - August 15, 2018 Category: Hematology Authors: K. Rady, P. Blombery, D.A. Westerman, M. Wall, M. Curtis, L.J. Campbell, J.F. Seymour Tags: Meeting report Source Type: research