[The 5q(-) syndrome. Report of 2 cases].
A rare and primitive myelodysplastic syndrome 5q(-) is characterised first, by the persistence of the cytogenetic anomaly 5q(-), and second, by its feminine predominance. Among 13 cases of myelodysplastic syndromes, the subject of a substantial and systematic cytogenetic medullar study (1996-1998), this paper is a case study of 2 syndromes 5q(-) diagnosed in two male patients, respectively, aged 41 and 68. The following diagnosis was made on the basis of an aregenerative macrocytic anaemia, a high platelet count, and a megakaryocytic hyperplasia, along with dysmegakaryocytopoiesis. The diagnosis of the 5q(-) syndrome was verified by cytogenetic analysis showing in one of the patients a deletion 5q(-)(q13, q33) and 5q(-)(q14, q34) with trisomy in the second one. Treatment was only limited to a blood transfusion. Subsequently one of the patients developed an advanced case of leukaemia. This paper suggests that a systematic medullar cytogenetic study must be conducted in the case of any refractory anaemia in order to identify the syndrome 5q(-) in individual cases.
Ben Lakhal
R
R
Service d'Hématologie, Hôpital Aziza Othmana, Tunis.
Meddeb
B
B
Gouider
E
E
Aissaoui
L
L
Sannana Sandi
H
H
Ben Abid
H
H
Belhaj Ali
Z
Z
Hafsia
R
R
Hafsia
A
A
D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D014314:Trisomy / Q000235:genetics*