Hematologic and clinical features of patients with chromosome 5 monosomy or deletion (5q)

✍ Scribed by Brusamolino, Ercole ;Orlandi, Ester ;Morra, Enrica ;Bernasconi, Paolo ;Pagnucco, Guido ;Colombo, Anna ;Lazzarino, Mario ;Bernasconi, Carlo

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 635 KB
• Volume: 16
• Category: Article
• ISSN: 0098-1532
• DOI: 10.1002/mpo.2950160204

✦ Synopsis

This paper analyzes the hematologic features and outcome of 13 patients with chromosome 5 abnormalities (monosomy 5 or deletion of Sq), either isolated or with additional anomalies. Among four patients with isolated del (Sq), two had a stable refractory macrocytic anemia with thrombocytosis (Sqsyndrome). 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 leuke-mia, and in six, a prior therapeutic, or occupational exposure to mutagenskarcinogens 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 (Sq) through a proto-oncogene activation and the putative hemopoietic stem cell involvement in a clonal disease are discussed.