Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject

Abstract

A patient with primary thrombocythemia, who was heterozygous for glucose-6-phosphate dehydrogenase deficiency (GdB/GdMed), was investigated to test for the clonal origin of this myeloproliferative disorder. In order to assess somatic cell mosaicism in various tissues, we have made use of the different rate of utilization of 2-deoxyglucose- 6-phosphate, an analog of glucose-6-phosphate, by normal glucose-6- phosphate dehydrogenase and by the Mediterranean variant: the results demonstrate that essential thrombocythemia is a clonal disease involving the erythrocytic, granulocytic, and megakaryocytic series, without affecting monocytes, T lymphocytes, and non-T lymphocytes.

Heterogeneity of clonal development in chronic myeloproliferative disorders

“…Granulocytes (PMN) and mononuclear cells (FH) were purified from peripheral blood according to standard methods [2]. Monocytes were removed from the FH fraction by adhesion to plastic culture dishes.…”

“…The myeloproliferative disorders (MPD) are a diverse group of hemopoietic diseases characterized by abnormal proliferation of a subset of marrow elements. Previous studies have shown that they are clonal diseases that arise in a multipotent hemopoietic stem cell [1,2]. Recent findings however have suggested a variability in the dominance of the neoplastic clone in some MPD patients [3].…”

Primary acquired sideroblastic anaemia and myeloproliferative disease: a report on three cases

“…The absence of such corresponding features at presentation, apart from the presence of ring sideroblasts, makes it unlikely that our three patients represent a more chronic form of this condition. The use of the genetic marker G6PD has been important in showing the myeloproliferative diseases polycythaemia rubra Vera (Adamson et al 1976), chronic granulocytic leukaemia (Barr & Fialkow 1973), primary thrombocythaemia (Gaetani et al 1982) and agnogenic myeloid metaplasia (Jacobson, Salo & Fialkow 1978) to be clonal disorders of a pluripotent marrow stem cell. Similar use of this marker has shown PASA likewise to be a clonal disorder, clonal characteristics being demonstrated in both myeloid and lymphoid cell lines (Prchal et al 1978).…”

Clonal B lymphocytes lack bcr rearrangement in Ph‐positive chronic myelogenous leukaemia

“…The patient was heterozygous for G6PD (Gd B/Gd Med) by analysis of a skin biopsy and hair follicle specimens. Haemopoietic cell populations from heparinized peripheral blood were purified as described elsewhere (Gaetani et al, 1982) and tested for G6PD mosaicism with the 2deoxy glucose-6-phosphate (2dG6P) technique, based on the relative different affinity of the B enzyme and the Mediterranean variant for 2dG6P, an analogue of the normal substrate G6P (Ferraris et al, 1981(Ferraris et al, , 1984. The sensitivity of this method allows the detection of a minor enzyme component as small as 5%.…”