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).
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.
Iwase
O
O
Chromosome Unit, Central Laboratory, First Department of Internal Medicine, Tokyo Medical University, 6-7-1- Nishi-shinjuka, Shinjuku-ku, 160-0023, Tokyo, Japan.
Iwama
H
H
Okabe
S
S
Ando
K
K
Yaguchi
M
M
Miyazawa
K
K
Kimura
Y
Y
Kodama
A
A
Fukutake
K
K
Ohyashiki
K
K
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