Aneuploidy in Paroxysmal Nocturnal Haemoglobinuria

Fleischmann, T; Bodor, F

doi:10.1159/000208687

Cited by 12 publications

(5 citation statements)

References 3 publications

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“…Chromosomal studies of peripheral blood cells in our patient failed to show the clonal abnormality observed in bone marrow. This finding is in agreement with previous studies on patients with PNH and clonal abnormality (Fleischmann & Bodor 1970, Tsuchimoto et al 1970, Fitzgerald & Hamer 1971, Whang-Peng et al 1976). The discrepancy between the clones found in the bone marrow and the chromosomal state of the peripheral blood cells can be explained by the use of different cells in each system: in the bone marrow the metaphases were of white or red cell lines, whereas in the peripheral blood the metaphases were mainly derived from lymphocytes.…”

Section: Discussionsupporting

confidence: 94%

“…Earlier investigations reported various clonal aneuploidal chromosomal abnormalities(Table 2) Whang-Peng et al (1976). described a patient whose Y chromosome was missing in approximately 90 % of the metaphases Fleischmann & Bodor (1970). reported a missing C group chromosome in 50 % of the cells, andTsuchimoto et al (1970) showed a missing chromosome from the C or G group and an abnormal G chromosome Fitzgerald & Hamer (1971).…”

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confidence: 99%

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Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria

et al. 1979

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Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be a clonal disorder, although most investigations have failed to show chromosomal abnormalities. The present patient suffered from PNH and exhibited in bone marrow cells two abnormal clones with 47 chromosomes in addition to cells with 46 chromosomes. One clone showed trisomy 9, a finding previously reported in leukemias and myeloproliferative disorders. Thus, PNH seems to be a clonal myeloproliferative disease.

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Section: Discussionsupporting

confidence: 94%

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confidence: 99%

Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria

et al. 1979

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“…These findings partially agree with previous reports [4][5][6]. Pooling together the data from the two patients, 14 marrow cells out of a total of 40 examined, are aneuploid or pseudodiploid.…”

Section: Discussionsupporting

confidence: 92%

“…[2,3]. Previous chromosome investigations in PNH are quite rare [4][5][6], and more information is needed. The present paper reports cytogenetic findings in marrow and blood cells of two patients with PNH.…”

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confidence: 99%

Chromosome Studies in Paroxysmal Nocturnal Haemoglobinuria

Zaccaria¹,

Ricci²,

Baccarani³

et al. 1973

Acta Haematol

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Chromosome studies have been performed in bone marrow and in venous blood cells of two patients with paroxysmal nocturnal haemoglobinuria (PNH). The frequency of aneuploidy in marrow cells was of 40 and 35%, respectively. Blood lymphocytes showed aneuploidy in only one patient.The data are consistent with the hypothesis that PNH can be a myeloproliferative disease, but no direct evidence has been found neither for a clonal composition of PNH nor for participation of all marrow cell lines

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“…Though clonal aneuploidy has been reported in some cases [13,14], a normal karyotype was found in most patients with typical PNH for whom marrow chromosomal analysis were available [15,16]. How ever, in patients with acute myeloid leukaemia secon dary to PNH various clonal karyotypic anomalies were reported such as monosomy 7 or trisomy 8 [7].…”

Section: Discussionmentioning

confidence: 99%

Refractory Anaemia with Excess of Blasts as a Terminal Evolution of Paroxysmal Nocturnal Haemoglobinuria

Aymard¹,

Buisine²,

Grégoire³

et al. 1985

Acta Haematol

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A 63-year-old man presented with paroxysmal nocturnal haemoglobinuria (PNH). After a 31 months’ course of typical PNH the patient developed a type 1 (refractory anaemia) myelodysplastic syndrome (MDS) which subsequently evolved into type 5 (refractory anaemia with excess of blasts in transformation) myelodysplastic syndrome. At this time, bone marrow chromosomal analysis revealed a clonal pseudodiploidy (46 XY, -10, -16, -20, +3 markers) while phytohaemagglutinin-stimulated blood lymphocytes had a normal male karyotype. Both the acid haemolysis and thrombin tests remained positive throughout the course of the disease. This case report emphasizes the link between PNH and the myelodysplastic syndromes. Serial chromosomal analysis may help to define the myelodysplastic potential of PNH

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Aneuploidy in Paroxysmal Nocturnal Haemoglobinuria

Cited by 12 publications

References 3 publications

Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria

Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria

Chromosome Studies in Paroxysmal Nocturnal Haemoglobinuria

Refractory Anaemia with Excess of Blasts as a Terminal Evolution of Paroxysmal Nocturnal Haemoglobinuria

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