抄録
A 65 year-old woman complaining of fever and dyspnea was admitted to Saitama Medical School in July, 1986. Physically marked pallor was noted. Laboratory examination revealed pancytopenia. A bone marrow aspiration showed a normocellular marrow with 26.6% blast cells positive for peroxidase reaction. Morphological abnormality was observed in the red cell, neutrophil, and megakaryocyte series.
A diagnosis of refractory anemia with excess of blasts in transformation (RAEB-t) was made, and supportive therapy with antibiotics and blood transfusion was started. However, her blast cells increased and a diagnosis of overt leukemia was made at 49th day after the admission. Although a treatment with a low-dose Ara-C was tried, she died at 63th day after the admission. When her lymphocytes were cultured in the presence of PHA and distamycin A, the fragile site (FS), fra (17) (p12) was detected on No. 17 chromosome. As the fra (17) (p12) was also detected in her sister and son, it was demonstrated to be heritable.
At the present time, this is the first clinical report of MDS where fra (17) (p12) was demonstrated. Since some FSs are known to be located at or near the breakpoint of chromosome rearrangement characteristic of specific human cancers, we assume fra (17) (p12) plays a possible role in the etiology of MDS.
