ON THE 5Q- DELETION - CLINICAL AND CYTOGENETIC OBSERVATIONS IN 10 PATIENTS AND REVIEW OF THE LITERATURE

  • 1 January 1981
    • journal article
    • research article
    • Vol. 58  (5) , 986-993
Abstract
Clinical and cytogenetic findings in 10 patients with deletions of the long arm of chromosome 5 (5q-) are reported. Five cases had refractory anemia, the preleukemic syndrome or refractory anemia with an excess of blasts; in all but one, the 5q- was the single initial abnormality. Three patients had overt leukemia; in all, the 5q- was accompanied by additional anomalies. Two patients had a myeloproliferative disorder. In one of these, a case of polycythemia vera, the 5q- appeared secondarily to other karyotypic abnormalities and concomitantly with transformation into a spent phase. The deletions were interstitial in most cases, and even if the size of the deletion varied, the region q15-q31 was lost in all cases except 2. Bone marrow from all cases except one showed a marked increase in the number of megakaryocytes. A survey of the literature yielded a total of 69 evaluable patients with 5q- deletions, including the present series. The 5q- has now been observed in a wide spectrum of hematologic disorders. Most cases had either preleukemia (39%) or leukemia (46%). When detected during preleukemia, the 5q- usually appeared alone (74%), while during overt leukemia it regularly was accompanied by other abnormalities (88%).