Literature DB >> 35038703

MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene.

Peter Molony1, Adam C Smith1, Shamini Selvarajah1, Ali Sakhdari1.   

Abstract

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.
© 2022 The Author(s). Published by S. Karger AG, Basel.

Entities:  

Keywords:  KANSL1-CMC4 fusion; KANSL1-MTCP1 fusion; Myelodysplastic/myeloproliferative disorders

Mesh：

Substances：

Year:  2022        PMID： 35038703      PMCID： PMC8988093          DOI： 10.1159/000521509

Source DB:  PubMed          Journal:  Cytogenet Genome Res        ISSN： 1424-8581            Impact factor:   1.636


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  1 in total

1.  Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma.

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