title: Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A).
abstract: We report here a case of refractory anemia with ringed sideroblasts (RARS) with a low risk group by the International Prognostic Scoring System (IPSS) at the time of diagnosis but had a rapid disease progression. Although the patient showed a normal male karyotype at the time of RARS diagnosis, his marrow cells had del(5)(q14) and add(17)(p12) abnormalities 2 months after the diagnosis, and later the marrow cells had multiple abnormalities and the patient expired 6 months after the initial diagnosis of RARS. The patient was diagnosed as having RARS with a low risk group by the IPSS classification, however, one should keep in mind that some patients with myelodysplastic syndromes with low risks by either the French-American-British (FAB) classification or the IPSS classification may have progressive disease and subsequential cytogenetic analysis could predict the disease progression.
authors.affiliation: Chromosome Unit, Central Laboratory, First Department of Internal Medicine, Tokyo Medical University, 6-7-1- Nishi-shinjuka, Shinjuku-ku, 160-0023, Tokyo, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Iwase
authors.forename: H
authors.initials: H
authors.lastname: Iwama
authors.forename: S
authors.initials: S
authors.lastname: Okabe
authors.forename: K
authors.initials: K
authors.lastname: Ando
authors.forename: M
authors.initials: M
authors.lastname: Yaguchi
authors.forename: K
authors.initials: K
authors.lastname: Miyazawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kimura
authors.forename: A
authors.initials: A
authors.lastname: Kodama
authors.forename: K
authors.initials: K
authors.lastname: Fukutake
authors.forename: K
authors.initials: K
authors.lastname: Ohyashiki
mesh_terms: D000208:Acute Disease; D000753:Anemia, Refractory / Q000235:genetics* / Q000503:physiopathology; D000756:Anemia, Sideroblastic / Q000209:etiology / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D018450:Disease Progression; D006801:Humans; D007621:Karyotyping; D004915:Leukemia, Erythroblastic, Acute / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged