The Chromosomes in Polycythaemia Vera

Abstract

THERE have been few previous cytogenetic studies of patients with polycythaemia Vera (P.V.). Nowell and Hungerford (1962) and Nowell (1965) investigated the chromosomes of the bone marrow and peripheral blood in five patients with polycythaemia who had been treated with radio-phosphorus ("P). They found abnormal cell lines in four patients, one of whom had developed leukaemia. Kenip, stafford and Tanner (1961) examining the bone marrow by the short-term culture method, found that seven out of nine cases of polycythaemia were normal, one patient had a cell line of 48 chromosomes, and one patient (who subsequently developed frank chronic granulocytic leukaemia) showed Phl -positive cells. Both these patients had been treated with 32P. An abnormal clone having a deletion of one of the C group chromosomes was present in the bone marrow of a patient with P.V. (Solari, Sverdlick and Viola, 1962) : this patient had received X-rays and 32P. Levan, Nichols, Hall, Low, Nilsson and Nordtn (1964), using the blood leucocyte culture method, found hyperdiploid cell lines in a male patient with P.V. who had received " I ? . He had a few features of chronic granulocytic leukaemia. In all these previous studies, it is not known to what extent the chromosomal abnormalities are due to the disease or are secondary to treatment. It is clearly established that 32Pproduces typical radiation damage of the chromosomes of blood leucocytes (MacDiarmid, 1965). A few cases of P.V. have been investigated in the terminal stages of the disease, after the development of a leukaemic state (Ford, Jacobs and Lajtha, 1958: one case; Baikie, Jacobs, McBride and Tough, 1961 : two cases). In each case, short-term bone-marrow culture showed hypodiploid counts.per cu.niiii. N indicntcs ni~rinal lrvcls. Wlicrc the relative tendency to ovcr-production has altcrcd as between the t h e types of cell, this is indicatcd by giving n second asses~inent. the bulk of the aspiratc was prcpared for chromosomc analysis by a slight modification of the dircct iiicthod of Tjio and Whang (1962). Blood leucocytes were cultured for 72 hours in the prescricc of phytohaeiiiagglutiiiiii (PHA) (Difco) either by the iiiethod of Moorhead, Nowell,

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

“…Deletion of chromosome 20q, which was originally described in 1966 as an F-group chromosomal deletion in PV, 110 occurs in a range of myeloproliferative disorders. 111 It is a common finding, for example, not only in PV, [53][54][55] but also in PMF [26][27][28]112 and may occur in ET, 114,115 chronic neutrophilic leukaemia, 62 myelodysplastic syndromes 113,114 and acute myeloid leukaemia, 115 although rarely in lymphoproliferative malignancies.…”

Hematologic Disorders Associated With Deletions of Chromosome 20q:A Clinicopathologic Study of 107 Patients

“…In 23 cases, including myelodysplastic syndromes (13), myeloproliferative disorders (6), acute myeloid leukemia (2), and autoimmune disorders (2), 20q-occurred with other cytogenetic abnormalities, including del(5q), An interstitial or terminal deletion of the long arm of chromosome 20 (20q-) has been described as a recurring karyotypic abnormality in various types of hematologic disorders. It was first described as an F group chromosome abnormality in bone marrow specimens from patients with polycythemia vera 1 and identified as 20q-by Reeves and colleagues in 1972. 2 Since then, its association with polycythemia vera has been confirmed.…”

Glutamic Pyruvate Transaminase Phenotypes in Polycythaemia Rubra Vera

“…There was some indication that the patients with the lowest GPT activities were most likely to show chromosome abnormalities. In four of these patients the abnormal chromosome was a number 20 with a deletion in the long arm (2Oq-) which has a degree of specificity for PRV (Kay et al, 1966;Millard et al, 1968;Lawler et al, 1970;Reeves et a / , 1972) although it has been found in other myeloproliferative disorders (de Grouchy et al, 1966;Nowell et al, 1976). These findings are in accordance with the previous study by Millard et a1 (1968) in which abnormally high levels of the tryptophan metabolites kynurenine, 3-hydroxykynurenine and anthranilic acid, indicating deficiency of B6, were found in the urine of some PRV patients, particularly those with the 20q-abnormality.…”