An isolated 5q− Myelodysplastic Syndrome (MDS), “5q− syndrome”, is characterized by a favorable prognosis whereas a deletion of chromosome 5q associated with one additional abnormality seems to confer a shorter median survival even though the prognostic impact of diverse aberrations in addition to 5q− has not been established. Translocation t(12;22)(p13;q11)/MN1-ETV6 has been found in only 2 cases of MDS. The putative MN1-ETV6 transcription factor has transforming activity in vitro and may induce Acute Myeloid Leukemia (AML) in mice. Here we report the first case of MDS with 5q− and trisomy 21 at diagnosis which developed into secondary MN1-ETV6 positive AML.
MN1-ETV6 fusion gene arising from MDS With 5q-
Nofrini Valeria;Laura Berchicci;Roberta La Starza;Paolo Gorello;Danika Di Giacomo;Francesco Arcioni;Valentina Pierini;Barbara Crescenzi;Silvia Romoli;Caterina Matteucci;Cristina Mecucci
2011
Abstract
An isolated 5q− Myelodysplastic Syndrome (MDS), “5q− syndrome”, is characterized by a favorable prognosis whereas a deletion of chromosome 5q associated with one additional abnormality seems to confer a shorter median survival even though the prognostic impact of diverse aberrations in addition to 5q− has not been established. Translocation t(12;22)(p13;q11)/MN1-ETV6 has been found in only 2 cases of MDS. The putative MN1-ETV6 transcription factor has transforming activity in vitro and may induce Acute Myeloid Leukemia (AML) in mice. Here we report the first case of MDS with 5q− and trisomy 21 at diagnosis which developed into secondary MN1-ETV6 positive AML.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
