ISSN: 2329-6917
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Laboratory of Molecular Genetics, Department of Clinical Analysis, Consorcio Hospital General Universitario de Valencia, Valencia, Spain
Case Report
Dicentric Chromosome (7;12)(p12.21;p12.10): A Rare Cytogenetic Aberration in Myelodysplastic Neoplasms Associated with High Likelihood of Leukemic Transformation
Author(s): 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 progno.. View More»
DOI:
10.35248/2329-6917.23.11.317