A new hematologic syndrome with a distinct karyotype: the 5 q-- chromosome

Abstract

Five patients, four women and one man, age 32–8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder.

Hematologic and clinical features of patients with chromosome 5 monosomy or deletion (5q)

“…In this study, we have considered all the aberrations involving the chromosome 5 , alone or associated with more complex abnormalities. In the group with the sole del (5q), two cases had a classical 5q-syndrome and, as previously indicated [12][13][14], did not evolve into acute leukemia after 32 and 62 months of observation; the other two cases had acute leukemia ab initio-one of myeloid and one of lymphoid (B-cell) origin.…”

Interstitial deletion of band q12 of chromosome 5

“…Constitutional long arm deletions of chromosome 5 are rare. Deletion of approximately two-thirds of the long arm of chromosome 5 is often found in patients with pure red cell hypoplasia (Sokal et al 1975, Swolin et al 1981. This distinct haematological disorder is called 5q-anemia.…”

Nuclear bridging of erythroblasts in acquired dyserythropoiesis: An early and transient preleukemic marker

“…lB, 3C,D). These resembled the abnormalities described in the smouldering myeloid leukemic state [ 1- 5,7,19] and in the 5q-syndrome [14], now also recognized as a potential preleukemic condition [ 15 , 161. Unfortunately, in our two cases, electron microscopy and karyotyping of hematopoietic tissue of the first case were not available.…”