Journal of Leukemia
Open Access

Abstract

Dicentric Chromosome (7;12)(p12.21;p12.10): A Rare Cytogenetic Aberration in Myelodysplastic Neoplasms Associated with High Likelihood of Leukemic Transformation

Marisol Uribe, Rocío García Serra, David Ivars, Carolina Villegas, Irene Luna, Raquel Rodriguez- López, María Teresa Orero, Mercedes Egea, Blanca Alejos, Olga Mompel, Cristina Játiva, Mariano Linares, Mariam Ibáñez* and Rosa Collado*

Cytogenetic abnormalities are essential biomarkers in Myelodysplastic Neoplasms (MDS) to assess risk prognosis and guide therapeutic strategies. Most common chromosomal anomalies are represented into the current prognostic indexes, but these scores minimize the real impact of less frequent aberrations. Here, we present a 34-year-old with an intermediate-risk MDS, featuring a rare dicentric chromosome dic(7;12) into a complex karyotype setting and a TP53 likely germinal variant, who rapidly progressed into leukemia. The dic(7;12) has been reported in acute leukemia’s, but not previously seen in de novo MDS. This infrequent alteration might trigger an aggressive behavior and lead a leukemic transformation. Cytogenetic abnormalities are essential biomarkers in Myelodysplastic Neoplasms (MDS) to assess risk prognosis and guide therapeutic strategies. Current prognostic scores minimize the real impact of less frequent chromosomal aberrations. Dicentric chromosome dic(7;12), an infrequent alteration in de novo MDS, might trigger an aggressive behavior and lead a leukemic transformation.

Published Date: 2023-03-15; Received Date: 2023-02-07