Ji. Nishimura et al., ANALYSIS OF PIG-A GENE IN A PATIENT WHO DEVELOPED RECIPROCAL TRANSLOCATION OF CHROMOSOME-12 AND PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA DURING FOLLOW-UP OF APLASTIC-ANEMIA, American journal of hematology, 51(3), 1996, pp. 229-233
The relationships between paroxysmal nocturnal hemoglobinuria (PNH), a
plastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear,
Here we describe a patient, J20, who developed a reciprocal transloca
tion of chromosome 12 and PNH during follow-up of AA. All metaphases i
n CD59-deficient bone marrow mononuclear cells had the translocation,
whereas none of the CD59-sufficient cells had it, indicating that the
PNH clone coincided with a cell population bearing the chromosomal abe
rration, We found a somatic sing le-base deletion mutation in the PIG-
A gene of this patient's peripheral blood cells, This is the first pat
ient with PNH with a PNH clone containing a chromosomal translocation.
(C) 1996 Wiley-Liss, Inc.