Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria Journal Article


Authors: Araten, D. J.; Swirsky, D.; Karadimitris, A.; Notaro, R.; Nafa, K.; Bessler, M.; Thaler, H. T.; Castro-Malaspina, H.; Childs, B. H.; Boulad, F.; Weiss, M.; Anagnostopoulos, N.; Kutlar, A.; Savage, D. G.; Maziarz, R. T.; Jhanwar, S.; Luzzatto, L.
Article Title: Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria
Abstract: Paroxysmal nocturnal haemoglobinuria (PNH) is characterized by the expansion of a haematopoietic stem cell clone with a PIG-A mutation (the PNH clone) in an environment in which normal stem cells are lost or failing: it has been hypothesized that this abnormal marrow environment provides a relative advantage to the PNH clone. In patients with PNH, generally, the karyotype of bone marrow cells has been reported to be normal, unlike in myelodysplastic syndrome (MDS), another clonal condition in which cytogenetic abnormalities are regarded as diagnostic. In a retrospective review of 46 patients with a PNH clone, we found a karyotypic abnormality in 11 (24%). Upon follow-up, the proportion of cells with abnormal karyotype decreased significantly in seven of these 11 patients. Abnormal morphological bone marrow features reminiscent of MDS were common in PNH, regardless of the karyotype. However, none of our patients developed excess blasts or leukaemia. We conclude that in patients with PNH cytogenetically abnormal clones are not necessarily malignant and may not be predictive of evolution to leukaemia.
Keywords: adolescent; adult; clinical article; controlled study; treatment outcome; middle aged; leukemia; retrospective studies; disease course; follow up; follow-up studies; cell proliferation; cytogenetics; prediction; myelodysplastic syndrome; clonal variation; hematopoietic stem cells; bone marrow cell; chromosome aberrations; chromosome analysis; karyotyping; myelodysplastic syndromes; paroxysmal nocturnal hemoglobinuria; hemoglobinuria, paroxysmal; blast cell; cytoarchitecture; chromosomal abnormalities; humans; human; male; female; priority journal; article; aplastic anaemia; bone marrow morphology; paroxysmal nocturnal haemoglobinuria
Journal Title: British Journal of Haematology
Volume: 115
Issue: 2
ISSN: 0007-1048
Publisher: John Wiley & Sons  
Date Published: 2001-11-01
Start Page: 360
End Page: 368
Language: English
DOI: 10.1046/j.1365-2141.2001.03113.x
PUBMED: 11703336
PROVIDER: scopus
DOI/URL:
Notes: Export Date: 21 May 2015 -- Source: Scopus
Altmetric Score
MSK Authors
  1. Farid Boulad
    254 Boulad
  2. Barrett H Childs
    63 Childs
  3. Khedoudja Nafa
    184 Nafa
  4. Rosario Notaro
    22 Notaro
  5. Mark Weiss
    80 Weiss
  6. Suresh C Jhanwar
    212 Jhanwar
  7. Howard T Thaler
    193 Thaler
  8. David Araten
    20 Araten
  9. Lucio Luzzatto
    104 Luzzatto