TY - JOUR
T1 - Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria
AU - Araten, David J.
AU - Swirsky, David
AU - Karadimitris, Anastasios
AU - Notaro, Rosario
AU - Nafa, Khedoudja
AU - Bessler, Monica
AU - Thaler, Howard T.
AU - Castro-Malaspina, Hugo
AU - Childs, Barrett H.
AU - Boulad, Farid
AU - Weiss, Mark
AU - Anagnostopoulos, Nikolaos
AU - Kutlar, Abdullah
AU - Savage, David G.
AU - Maziarz, Richard T.
AU - Jhanwar, Suresh
AU - Luzzatto, Lucio
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Aplastic anaemia
KW - Bone marrow morphology
KW - Chromosomal abnormalities
KW - Myelodysplastic syndrome
KW - Paroxysmal nocturnal haemoglobinuria
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U2 - 10.1046/j.1365-2141.2001.03113.x
DO - 10.1046/j.1365-2141.2001.03113.x
M3 - Article
C2 - 11703336
AN - SCOPUS:0035726553
SN - 0007-1048
VL - 115
SP - 360
EP - 368
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 2
ER -