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

Valentina Monti, Filippo Bagnoli, Niccolo' Bolli, Laura Vittoria, Sabine Stioui, Maria Luisa Moiraghi, Giancarlo Pruneri, Maria Adele Testi

Tumori 2020 Dec

filter terms:

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. 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. 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.

Citation

Valentina Monti, Filippo Bagnoli, Niccolo' Bolli, Laura Vittoria, Sabine Stioui, Maria Luisa Moiraghi, Giancarlo Pruneri, Maria Adele Testi. A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22). Tumori. 2020 Dec;106(6):NP18-NP22