On the 5q- deletion: clinical and cytogenetic observations in ten patients and review of the literature.
Clinical and cytogenetic findings in 10 patients with deletions of the long arm of chromosomes 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. However, 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%).
D000368:Aged; D000741:Anemia, Aplastic / Q000235:genetics; D001853:Bone Marrow / Q000473:pathology; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics; D010976:Platelet Count; D011289:Preleukemia / Q000235:genetics; D013577:Syndrome