Open AccessMDS/MPN-Unclassifiable with t(X;17)(q28;q21) and <b><i>KANSL1-MTCP1/CMC4</i></b> Fusion Gene
Author(s) -
Peter Molony,
Adam C. Smith,
Shamini Selvarajah,
Ali Sakhdari
Publication year - 2021
Publication title -
cytogenetic and genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.571
H-Index - 88
ISSN - 1424-8581
DOI - 10.1159/000521509
Subject(s) - biology , myeloproliferative neoplasm , genetics , myelodysplastic syndromes , myeloid , fusion gene , gene , cancer research , bone marrow , immunology , myelofibrosis
Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) is a poorly characterized entity among overlap myeloid syndromes. Recent studies have shown heterogeneous mutational profiles in this group being able to subclassify them into entities closely related to the more well-established disorders under the umbrella term of the MDS/MPN group. Recurrent cytogenetic alterations are, nonetheless, rare in MDS/MPN-U. Here, for the first time, we report a case of MDS/MPN-U with a t(X;17)(q28;q21) chromosomal rearrangement leading to the KANSL1-MTCP1 fusion gene.