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[RAEB transformed into AML (M0) showing Ph1 chromosome and rearrangement of major cluster region].

Abstract
A 78 year old female was found to have pancytopenia in February 1991. Bone marrow was normocellular with 11.7% blasts and showed dysmegakaryopoietic changes. A diagnosis of MDS (RAEB) was made and she was treated with transfusions and ubenimex. Leukemic transformation was noted in July. On Admission in October 1991, her laboratory examinations revealed the following: WBC 38,900/microliters with 93% blast, Hb 8.0 g/dl, Plt 2.1 x 10(4)/microliters, a hypercellular bone marrow with 74% blasts which were negative for myeloperoxidase (MPO) by light microscopy, but were positive by electron microscopy. Surface marker for CD13 was positive. These findings corresponded to M0 of the FAB subtype. Chromosome analysis revealed Ph1 chromosome with 46XX, t (9;22) (q34;q11) in 3 of 3 cells examined, Southern analysis showed the rearrangement of the break point cluster region (bcr). Reverse transcriptase polymerase chain reaction technique demonstrated the presence of major bcr/abl mRNA. She was treated with transfusions and methyl-prednisolone. Her blast counts declined and Ph1 chromosome was only positive in 1 of 12 metaphases examined. She died of pneumonia in December 1991. Eleven cases with MDS showing Ph1 chromosome have previously been reported. The observations indicate that Ph1 chromosome positive acute leukemias were heterogenous in nature.
AuthorsH Mori, N Takahashi, J Tada, T Higuchi, T Shimizu, H Harada, T Maeda, Y Miyoshi, S Okada, H Niikura
Journal[Rinshò„ ketsueki] The Japanese journal of clinical hematology (Rinsho Ketsueki) Vol. 34 Issue 11 Pg. 1458-63 (Nov 1993) ISSN: 0485-1439 [Print] JAPAN
PMID8254908 (Publication Type: Case Reports, English Abstract, Journal Article, Review)
Topics
  • Aged
  • Anemia, Refractory, with Excess of Blasts (pathology)
  • Female
  • Gene Rearrangement
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive (genetics)
  • Leukemia, Myeloid, Acute (genetics)
  • Multigene Family
  • Philadelphia Chromosome

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