Hematologic and clinical features of patients with chromosome 5 monosomy or deletion (5q).
This paper analyzes the hematologic features and outcome of 13 patients with chromosome 5 abnormalities (monosomy 5 or deletion of 5q), either isolated or with additional anomalies. Among four patients with isolated del (5q), two had a stable refractory macrocytic anemia with thrombocytosis (5q-syndrome). All nine patients with complex karyotypes had acute leukemia or refractory anemia with excess of blasts in acute transformation; two cases were TdT-positive, with a lymphoid or a mixed phenotype. In seven patients, preleukemia preceded overt leukemia, and in six, a prior therapeutic, or occupational exposure to mutagens/carcinogens had occurred. Additional chromosome 7 abnormalities were seen in four cases. The median survival of patients with complex karyotypes was 19 months from the time of diagnosis of the hematologic disorder and 5 months from the time of identification of the chromosome 5 abnormality. Pathogenetic implications of the chromosome 5 monosomy or del (5q) through a proto-oncogene activation and the putative hemopoietic stem cell involvement in a clonal disease are discussed.
Brusamolino
E
E
Divisione di Ematologia, Ospedale Policlinico San Matteo, IRCCS, Pavia, Italy.
Orlandi
E
E
Morra
E
E
Bernasconi
P
P
Pagnucco
G
G
Colombo
A
A
Lazzarino
M
M
Bernasconi
C
C
D000328:Adult; D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007938:Leukemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes