Chromosomes in Paroxysmal Nocturnal Haemoglobinuria

Emilia, Giovanni; Curci, G; Sacchi, Stefano; Bolognesi, I.; Torelli, Guido

doi:10.1111/j.1365-2141.1982.tb03898.x

Cited by 3 publications

(1 citation statement)

References 8 publications

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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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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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Chromosomal subclonal evolution in paroxysmal nocturnal hemoglobinuria evolving into acute megakaryoblastic leukemia

Teyssier

Béhar

et al. 1987

Cancer Genetics and Cytogenetics

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Leukemia Arising out of Paroxysmal Nocturnal Hemoglobinuria

Harris

Koscick²,

Lazarus

et al. 1999

Leukemia & Lymphoma

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In paroxysmal nocturnal hemoglobinuria (PNH), one or more hematopoietic stem cells that are defective in GPI anchor assembly as a result of mutation in the PIG-A gene preferentially expand in the bone marrow and give rise to peripheral blood elements that are deficient in GPI anchored protein expression. According to current concepts, 5-15% of PNH patients develop leukocyte dyscrasias which invariably are acute myelogenous leukemia (AML). In this review, the literature from 1962 to the present is analyzed regarding the type of leukocyte dyscrasia, incidence, and cytogenetic features of the abnormal cells that have been reported. Among a total of 119 cases that are well-documented, 104 myeloid dyscrasias involving several categories in addition to AML, as well as 15 lymphoid dyscrasias are described. Of 1,760 patients in 15 series that contain 20 or more patients, 16 (1%) are reported as having developed "acute leukemia." However, of 288 listed as having died, 13 (5%) are recorded as having had "acute leukemia." In 32 of the patients with hematological dyscrasias where karyotypes were analyzed, 7 were found to be normal and 25 found to harbor various alterations with the +8 abnormality present in 8. In 5 of 7 instances evidence indicates that the dyscratic cell arises from the PNH clone. Processes potentially involved in the evolution of the dyscratic cells from PNH clones are discussed.

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Chromosomes in Paroxysmal Nocturnal Haemoglobinuria

Cited by 3 publications

References 8 publications

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

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

Chromosomal subclonal evolution in paroxysmal nocturnal hemoglobinuria evolving into acute megakaryoblastic leukemia

Leukemia Arising out of Paroxysmal Nocturnal Hemoglobinuria

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