title: [Clonal analysis by fluorescence in situ hybridization in a patient with de nove acute myeloid leukemia with myelodysplasia].
abstract: A 12-year-old girl presenting leukocytosis, anemia and thrombocytopenia was diagnosed as de nove acute myeloid leukemia (AML, M2) with concurrent myelodysplastic features in myeloid and erythroid cells. Her karyotype was defined as 47, XX, +8[20]. Though she was treated successfully with multi-drug chemotherapy, she relapsed after 2 years of remission. A bone marrow transplantation from HLA matched her brother was performed to induce hematological remission which persisted for one year. She again relapsed with AML with myelodysplasia, and an abnormal complex karyotype was newly detected. She eventually died without further chemotherapy. We performed FISH on the patient's stained bone marrow smears using DNA probes for chromosome 8 and Y to analyze the clonality. The results showed that the most of blasts and bone marrow cells except lymphoid cells were of trisomy 8 at onset, while in the 1st remission, trisomy 8 clone was slightly detected only in monocytes. At 1st and 2nd relapse, trisomy 8 clone was detected again in most of myeloid cells. Thus, in this case, it was considered that underlying stem cell disorder with trisomy 8 during the entire disease course contributed to leukemogenesis.
authors.affiliation: First Department of Pathology, School of Medicine, University of the Ryukyus.
authors.forename: N
authors.initials: N
authors.lastname: Hyakuna
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: K
authors.initials: K
authors.lastname: China
authors.forename: T
authors.initials: T
authors.lastname: Gushiken
authors.forename: T
authors.initials: T
authors.lastname: Tohma
authors.forename: E
authors.initials: E
authors.lastname: Ito
mesh_terms: D000208:Acute Disease; D002648:Child; D002898:Chromosomes, Human, Pair 8; D002999:Clone Cells; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000150:complications* / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000473:pathology; D014314:Trisomy