Paroxysmal Nocturnal Hæmoglobinuria With Chromosome Abnormalities: Possible Preleukæmia

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

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 72%

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Chromosome Studies in Paroxysmal Nocturnal Haemoglobinuria

Zaccaria¹,

Ricci²,

Baccarani³

et al. 1973

“…Bone marrow aspirates were difficult to get [12] because of myelofibrosis [14] and showed a relative excess of myeloblasts [12,13]. Chromosomal abnor malities could have a prognostic value, in view of their significance in the pre-leukaemic conditions [20] and of their possible existence in PNH [26]. In fact only two cases have been studied: aneuploidy was found by C armel et al [3], but there was no chromosomal abnormality in our case.…”

Section: Discussionmentioning

confidence: 67%

Acute Myelo-Monocytic Leukaemia: A Terminal Complication of Paroxysmal Nocturnal Haemoglobinuria

Zittoun¹,

Bernadou²,

James³

et al. 1975

The authors report a case of acute myelo-monocytic leukaemia occurring in a patient, 3 years after the beginning of a typical paroxysmal nocturnal haemoglobinuria (PNH). An intermediate phase characterized by worsening of the anaemia was observed, with disappearance of the in vitro haemolysis tests. The kinetic studies showed a replacement of the early peripheral haemolysis by a bone marrow insufficiency with intra-medullary cell death. A review of the five previous reported cases of this association show that PNH is generally a typical one, so that acute leukaemia must be considered as an unfrequent but possible complication of any PNH.

“…One patient reported by Tsuchimoto et al [17] had a bone marrow feature sug gestive of preleukaemia, and clonal karyotype abnor malities (45 XY, Gq-). In the present case, unfortu nately, chromosomal analysis was not available until the patient developed type 5 MDS.…”

Section: Discussionmentioning

confidence: 97%

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

Aymard¹,

Buisine²,

Grégoire³

et al. 1985

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