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

Abstract

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.

del(5q) in acute lymphoblastic leukemia (ALL)

“…Excluded are patients with EBF1/PDGFRB fusion that arose from interstitial deletion of 5q33, occurring within the Philadelphia-like ALL subtype. Del(5q) as a sole clonal cytogenetic abnormality was found in 11 patients (3 with B-ALL, 4 with T-ALL and 4 with unspecified ALL) (Kowalczyk et al, 1985;Brusamolino et al, 1988;Raimondi et al, 1988;Loncarevic et al, 1999;Midmer et al, 1999;Gmidene et al, 2008;Palau et al, 1991;Valtat et al, 1991;Theodossiou et al, 1992;Goud et al, 2015).…”

Orbital Tumor in an Infant with Acute Monocytic Leukemia Associated with Chromosome 5q– t(9p–;11q+), 11p+

“…Although the 5 q -chromosome has been found in patients with refractory ane mia, acute nonlymphocytic leukemia and lym phoproliférative disorders, the deletion typi cally occurs in older age groups [9][10][11][12]. Since it was first noted by Hagemeijer et al [13], sever al cases of a specific association between trans location (9;11) and acute leukemia of the M5 type have been reported [14,15].…”

“…In the oncology field, chromosomal abnor malities in association with leukemia are well known [9][10][11][12][13][14][15]. Although the 5 q -chromosome has been found in patients with refractory ane mia, acute nonlymphocytic leukemia and lym phoproliférative disorders, the deletion typi cally occurs in older age groups [9][10][11][12].…”

“…Chromoso mal abnormalities arc sometimes noted in patients with leukemia: 5q-(a deletion of the long arm of chromosome No. 5) has been found in refractory anemia, acute nonlymphocytic leukemia and lymphoproliférative disorders [9][10][11][12]. Translocation (9:11) has al so been reported on in acute monoblastic leu kemia [13][14][15].…”