Trisomy 8 in a patient who responded to therapy with all‐trans‐retinoic acid and developed paroxysmal nocturnal haemoglobinuria

Trisomy 8 is the most common numerical chromosomal abnormality in myelodysplastic syndromes (MDS). Paroxysmal nocturnal haemoglobinuria (PNH) is an aquired haemolytic anaemia, clonal in nature, due to somatic mutation. PNH may evolve to aplastic anaemia, to MDS or to acute myeloid leukaemia. We pres...

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Bibliographic Details
Published in:British journal of haematology 1997-04, Vol.97 (1), p.135-136
Main Authors: Viniou, N., Michali, E., Meletis, J., Andreopoulos, A., Vaiopoulos, G., Stavroyianni, N., Loukopoulos, D., Yataganas, X.
Format: Article
Language:English
Subjects:
Adolescent
all‐trans‐retinoic acid
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 8
differentiating therapy
Female
Hemoglobinuria, Paroxysmal - complications
Humans
Medical genetics
Medical sciences
Mosaicism
myelodysplastic syndrome
Myelodysplastic Syndromes - complications
paroxysmal nocturnal haemoglobinuria
Tretinoin - therapeutic use
Trisomy
trisomy 8
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Summary:Trisomy 8 is the most common numerical chromosomal abnormality in myelodysplastic syndromes (MDS). Paroxysmal nocturnal haemoglobinuria (PNH) is an aquired haemolytic anaemia, clonal in nature, due to somatic mutation. PNH may evolve to aplastic anaemia, to MDS or to acute myeloid leukaemia. We present a patient who had trisomy 8 mosaicism at disease presentation who received therapy with all‐trans‐retinoic acid, responded to therapy, and developed PNH in the course of the disease. Cytogenetics at the time of PNH diagnosis showed a normal karyotype.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.1997.d01-2123.x