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

Molony, Peter; Smith, Adam C; Selvarajah, Shamini; Sakhdari, Ali

Molony, Peter; Smith, Adam C; Selvarajah, Shamini; Sakhdari, Ali.

Afiliación

Molony P; Laboratory Medicine Program, University Health Network, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Smith AC; Laboratory Medicine Program, University Health Network, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Selvarajah S; Laboratory Medicine Program, University Health Network, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Sakhdari A; Laboratory Medicine Program, University Health Network, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Cytogenet Genome Res ; 161(12): 564-568, 2021.

Article en En | MEDLINE | ID: mdl-35038703

ABSTRACT

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.

Asunto(s)

Cromosomas Humanos Par 17/genética; Cromosomas Humanos X/genética; Fusión Génica/genética; Enfermedades Mielodisplásicas-Mieloproliferativas/genética; Proteínas Nucleares/genética; Translocación Genética/genética; Adulto; Citogenética; Humanos; Masculino; Proteínas Proto-Oncogénicas/genética

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Translocación Genética / Cromosomas Humanos Par 17 / Proteínas Nucleares / Cromosomas Humanos X / Fusión Génica / Enfermedades Mielodisplásicas-Mieloproliferativas Límite: Adult / Humans / Male Idioma: En Revista: Cytogenet Genome Res Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá

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