Cytogenetic studies in acute lymphocytic leukemia: Special emphasis in long‐term survival

Abstract

Cytogenetic studies were performed in 331 patients with ALL diagnosed at the National Institutes of Health between January 1961 and January 1976. Four patients had constitutionally abnormal genotypes, three had Down's syndrome, and one had a D/G translocation. Aneuploidy was observed in the pretreatment bone marrow in 49/115 (42.6%) of this series exhibited several general characteristics: aneuploid cells usually coexist with normal stem cells, hyperdiploidy is predominant and wide ranging aneuploidy clusters around a major cell line. The most common chromosomal group involved in aneuploidy is the G group (p=0.001) and the next most common is the B group (p=0.01). Aneuploidy disappeared after successful achievement of remission, and new clones developed in 12 patients during relapse. Two of the four patients originally thought to have a Ph1 chromosome, on trypsin Giemsa handing were proved to have a 21q- chromosome. A higher incidence of aneuploidy was noted in patients under one year or more than 20 years of age and was also higher in patients with low or elevated WBCs at diagnosis. The appearance of aneuploid cells in the bone marrow at the onset or later in the disease is of no prognostic significance but persistence of these lines and the development of total aneuploidy signals a poor prognosis. Eradication of aneuploid cells is therefore essential for the achievement of a long remission and progress to a permanent cure.

Chromosomes and causation of human cancer and leukemia.XXVI. Banding studies in acute lymphoblastic leukemia (ALL)

“…The findings just described are not incompatible with the results of others. 4*18* 17 The experience of Zuelzer et al" is somewhat at variance with the results of Whang-Peng et ~1 . '~ and those of the present paper, in that only 21% of children with ALL were found to have a dip- loid chromosome constitution, whereas 79% of the 53 patients studied had chromosome abnormalities.…”

Leukaemia in Children with Down’s Syndrome

“…When these patients entered remission, how ever, the abnormalities could no longer be detected. It was unequivocally shown that the presence of an aneuploid chromosome set in the blast cells at the onset of ALL indicates a poorer prognosis [12], As far as AML is concerned, only patients with a normal initial chromosome set were found to have significant ly longer survival [13]. These chromosome changes are thought to be secondary to malignant transformation.…”

Y Chromosome Loss in Childhood Leukaemias

“…An additional patient with Ph' negative chronic myelocytic leukaemia was cited with Y loss by Whittaker et al (1975). Although Y loss has been noted in acute leukaernias of childhood (Whang-Peng et al, 1976;Zuelzer et al, 1976), this is the first case with -Y as the sole chromosomal abnormality in a child with untreated ALL. Recently Y chromosome loss has been reported in a patient who was presumed to have acute lymphoblastic leukaemia by Schmidt et a1 (1975); the patient had a Ph' chromosome also, and details of the lymphoid properties of the cells were not provided.…”