[3q21q26 syndrome with minor-BCR/ABL type Ph chromosome].
A 77-year-old man was referred to our hospital because of elevated LDH and leukoblastosis in the peripheral blood in June 2002. Physical examination revealed neither hepatosplenomegaly nor superficial lymphadenopathy. A bone marrow film showed dysmegakaryocytopoiesis with many micromegakaryocytes and MPO-positive blasts appearing in 20-30% of NCC. A diagnosis of MDS (RAEB-t) was made. Blastic cells were positive for CD13, 33, 34 and HLA-DR. Karyotypic analysis at diagnosis revealed 46XY, inv(3) (q21q26), t(9;22) (q34; q11) and minor-BCR/ABL chimeric m-RNA was detected by RT-PCR. Mild chemotherapy (low dose Ara-C etc) was given but the disease progressed to the AML stage with thrombocytosis in August. In September imatinib was given because of Ph positivity, but the effect was transient. In October massive leukocytosis with myeloblastosis was uncontrollable. In December 2002 the patient died of pneumonia, after a total course of 7.5 months. This rare case with Ph chromosome and 3q21q26 syndrome showed a poor prognosis as previously reported.
Hirabayashi
Kazuko
K
Jisenkai Aizawa Hospital.
Kawakami
Hirotaka
H
Kodaira
Hiroshi
H
D000368:Aged; D002678:Chimera; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017809:Fatal Outcome; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D010677:Philadelphia Chromosome; D012333:RNA, Messenger / Q000235:genetics; D013577:Syndrome
D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl