Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia.
Cytogenetic analysis of bone marrow cells of a 63-year-old male Caucasian patient with polycythemia vera (PV) who developed anemia, thrombocytopenia, and increased granulocytic immaturity revealed a 47, X,der(Y) t(Y;1)(q12;q12),+9 karyotype. The breakpoint in chromosome 1 appeared to map to q12 and not to q21, as has been described in previous reports without FISH confirmation. In the 4 years before this transition the patient was polycythemic and, accordingly, treated with phlebotomy and three short courses of busulfan. The cytogenetic picture observed has been described before in seven patients: three with PV, three with myelodysplasia, and one with Fanconi anemia. In 5/7 cases, like in our patient, the abnormality was observed during transition of the disease into either myelodysplasia or AML.
Raymakers
R
R
Division of Hematology, University Hospital Nijmegen, The Netherlands.
Stellink
F
F
Geurts van Kessel
A
A
D001853:Bone Marrow / Q000473:pathology; D002066:Busulfan / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D018962:Phlebotomy; D011087:Polycythemia Vera / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014998:Y Chromosome
D002066:Busulfan