del(1p) solely

2017-05-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract

Deletions of the short arm of chromosome 1 are observed in a broad range of hematological malignances including myeloid disorders, acute lymphoblastic leukemia (ALL), multiple myeloma (MM) and lymphomas. They generally occur as part of complex karyotypes and in advanced disease stages. Their association with complex karyotypes likely reflect an inherent chromosomal instability correlated with a poor prognosis. The occurrence of 1p deletions as a sole anomaly is infrequent and their clinical significance is less well characterized.

Clinics and Pathology

Disease

Myeloid malignancies, acute lymphoblastic leukemia (ALL) and multiple myeloma (MM)

Epidemiology

Myeloid malignancies mainly (10 patients): 5 patients with myelodysplastic syndromes (MDS) (3 males, 2 females aged 64 to 71 years) (Parlier et al., 1994; Westbrook et al., 2000; Lubbert et al., 2001; Mallo et al., 2008; Wang et al., 2010; ) and 5 acute myeloid leukemia (AML) cases (2 males and 3 females aged 16 to 46 years) (Raimondi et al., 1999; Lemez et al., 2000; Coupland et al., 2002; Casas et al., 2004; Gmidène et al., 2012). In addition, there was 1 ALL patient (Zuelzer et al., 1976), a 7-years old T-ALL patient (Kaneko et al., 1989), 1 infant patient with biphenotypic leukemia (Al-Seraihy et al., 2009) and 7 multiple myeloma cases (3 males and 4 females aged 41 to 72 years) (Ankathil et al., 1995; Calasanz et al., 1997; Pantau et al., 2005).

Cytogenetics

Atlas Image
Partial karyotypes showing deletions of the short arm of chromosome 1 (A). Fluorescence in situ hybridization with LSI 1p36 (red)/1q25 (green) probes (Vysis/Abott Molecular, US) showing deletion of terminal 1p36 sequences from chromosome 1 (absence of the red signal).

Result of the Chromosomal Anomaly

Oncogenesis

Deletions of the short arm of chromosome 1 represent nonrandom structural aberrations in hematological malignancies, suggesting the existence of tumor suppressor genes encoded in this region. Loss of genetic information from the deleted region may contribute to disease pathogenesis via dosage reduction of genes leading to their aberrant expression. Most 1p deletions involve large regions containing a certain fraction of genes, therefore multiple tumor suppressive genes might cooperate in an additive or synergistic way leading to their simultaneous downregulation

Bibliography

Pubmed IDLast YearTitleAuthors
197132272009Clinical characteristics and outcome of children with biphenotypic acute leukemia.Al-Seraihy AS et al
76562091995Nonrandom karyotype abnormalities in 36 multiple myeloma patients.Ankathil R et al
91159681997Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations.Calasanz MJ et al
153250892004Genetic diagnosis by comparative genomic hybridization in adult de novo acute myelocytic leukemia.Casas S et al
125471612002Partial deletion of chromosome 1 in a case of acute myelocytic leukemia.Coupland LA et al
225494422012Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia.Gmidène A et al
25861831989Chromosomal and immunophenotypic patterns in T cell acute lymphoblastic leukemia (T ALL) and lymphoblastic lymphoma (LBL).Kaneko Y et al
115298542001Cytogenetic responses in high-risk myelodysplastic syndrome following low-dose treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine.Lübbert M et al
107390032000Erythroblastic and/or megakaryocytic dysplasia in de novo acute myeloid leukemias M0-M5 show relation to myelodysplastic syndromes and delimit two main categories.Lemez P et al
185916252008Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.Mallo M et al
154951972005Cytogenetic manifestations of multiple myeloma heterogeneity.Pantou D et al
78281571994Hematologic, clinical, and cytogenetic analysis in 109 patients with primary myelodysplastic syndrome. Prognostic significance of morphology and chromosome findings.Parlier V et al
105720831999Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821.Raimondi SC et al
200828522010Cytogenetic evolution correlates with poor prognosis in myelodysplastic syndrome.Wang H et al
110540672000Cytogenetic and molecular diagnosis of chromosome 5 deletions in myelodysplasia.Westbrook CA et al
10694731976Long-term cytogenetic studies in acute leukemia of children; the nature of relapse.Zuelzer WW et al

Citation

Adriana Zamecnikova

del(1p) solely

Atlas Genet Cytogenet Oncol Haematol. 2017-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1501/del(1p)

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