On the 5q- deletion: clinical and cytogenetic observations in ten patients
and review of the literature
B Swolin, A Weinfeld, B Ridell, J Waldenstrom and J Westin
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%).
Volume 58,
Issue 5,
pp. 986-993,
11/01/1981
Copyright © 1981 by The American Society of Hematology
