A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22)

Author:

Monti Valentina1ORCID,Bagnoli Filippo23ORCID,Bolli Niccolo’23,Vittoria Laura1,Stioui Sabine4,Moiraghi Maria Luisa1,Pruneri Giancarlo13,Testi Maria Adele1

Affiliation:

1. Department of Pathology, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy

2. Department of Clinical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy

3. Department of Oncology and Onco-Hematology, University of Milan, Milan, Italy

4. Cytogenetics and Medical Genetics Section, Humanitas Research Hospital, Milan, Italy

Abstract

Introduction: Myeloid malignancies are associated with a number of recurrent and sporadic rearrangements that may be oncogenic by ensuring growth advantage and/or increased survival. t(3;3)(q21;q26) has been recognized as a recurrent abnormality in myelodysplastic syndromes (MDS) with poor prognostic significance. Inversion of chr(11) engendering NUP98-DDX10 chimeric product is sporadic and usually associated with diseases with poor prognosis (therapy-related myeloid neoplasm). To date, these cytogenetic abnormalities have been described as isolated events. Case description: We report the first case of an 80-year-old man with high-risk MDS harboring a translocation t(3,3)(q21q26) jointly with an inv(11)(p15q22) detected by fluorescent in situ hybridization analysis and conventional cytogenetic techniques. Conclusion: A similar pattern of acquisition was never described before in MDS. The coexistence of two independent, high-risk oncogenic, rare events in the same clone suggests that there may be a functional constraint for synergy between the two events, leading to a proliferative advantage and suggests the utility of extended genotyping in myeloid malignancies.

Publisher

SAGE Publications

Subject

Cancer Research,Oncology,General Medicine

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