Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation. |
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| Authors: | Marta Salido Francesc Solé Blanca Espinet Cristalina Fernández Lourdes Zamora Soledad Woessner Lourdes Florensa |
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| Affiliation: | Laboratori de Citologia Hematològica, Escola de Citologia Hematològica S. Woessner-IMAS, Hospital del Mar, IMAS, IMIM, Barcelona, Spain. e0037@imas.imim.es |
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| Abstract: | Here, we report a 72-year-old male patient with acute myeloid leukemia (AML) without maturation. Cytogenetic study of a bone marrow culture revealed the following karyotype: 47,XX,+21,+i(21)(q10)x2. Fluorescence in situ hybridization study with a locus specific probe for 21q22 verified a pentasomy of 21q as a sole clonal cytogenetic abnormality. To our knowledge, this is the first report of pentasomy 21q in AML without Down syndrome. |
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