title: Trisomy 8 in a patient who responded to therapy with all-trans-retinoic acid and developed paroxysmal nocturnal haemoglobinuria.
abstract: 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.
authors.affiliation: First Department of Medicine, Laikon Hospital, University of Athens, Greece.
authors.forename: N
authors.initials: N
authors.lastname: Viniou
authors.forename: E
authors.initials: E
authors.lastname: Michali
authors.forename: J
authors.initials: J
authors.lastname: Meletis
authors.forename: A
authors.initials: A
authors.lastname: Andreopoulos
authors.forename: G
authors.initials: G
authors.lastname: Vaiopoulos
authors.forename: N
authors.initials: N
authors.lastname: Stavroyianni
authors.forename: D
authors.initials: D
authors.lastname: Loukopoulos
authors.forename: X
authors.initials: X
authors.lastname: Yataganas
mesh_terms: D000293:Adolescent; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications*; D006801:Humans; D009030:Mosaicism; D009190:Myelodysplastic Syndromes / Q000150:complications; D014212:Tretinoin / Q000627:therapeutic use*; D014314:Trisomy
chemical_list: D014212:Tretinoin