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del(1p) solely

Written2017-05Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait;

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.

Keywords Chromosome deletions; tumor suppressor genes; gene downregulation; nonrandom 1p deletions.

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ICD-Topo C420,C421,C424
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id 1501

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 Morphological Various breakpoints; found in a form of interstitial or terminal deletion, the most commonly breakpoint described is p11p22 found in 4 out of 7 MM cases; found in a sideline in 1 AML (Raimondi et al., 1999) and in 1 MM case (Pantou et al., 2005).
  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

Fusion Protein
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


Clinical characteristics and outcome of children with biphenotypic acute leukemia
Al-Seraihy AS, Owaidah TM, Ayas M, El-Solh H, Al-Mahr M, Al-Ahmari A, Belgaumi AF
Haematologica 2009 Dec;94(12):1682-90
PMID 19713227
Nonrandom karyotype abnormalities in 36 multiple myeloma patients
Ankathil R, Madhavan J, Gangadharan VP, Pillai GR, Nair MK
Cancer Genet Cytogenet 1995 Aug;83(1):71-4
PMID 7656209
Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations
Calasanz MJ, Cigudosa JC, Odero MD, Ferreira C, Ardanaz MT, Fraile A, Carrasco JL, Solé F, Cuesta B, Gullón A
Genes Chromosomes Cancer 1997 Feb;18(2):84-93
PMID 9115968
Genetic diagnosis by comparative genomic hybridization in adult de novo acute myelocytic leukemia
Casas S, Aventín A, Fuentes F, Vallespí T, Granada I, Carrió A, Angel Martínez-Climent J, Solé F, Teixidó M, Bernués M, Duarte J, Maria Hernández J, Brunet S, Dolors Coll M, Sierra J
Cancer Genet Cytogenet 2004 Aug;153(1):16-25
PMID 15325089
Partial deletion of chromosome 1 in a case of acute myelocytic leukemia
Coupland LA, Jammu V, Pidcock ME
Cancer Genet Cytogenet 2002 Nov;139(1):60-2
PMID 12547161
Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia
Gmidène A, Sennana H, Wahchi I, Youssef YB, Jeddi R, Elloumi M, Saad A
Hematology 2012 Jan;17(1):9-14
PMID 22549442
Chromosomal and immunophenotypic patterns in T cell acute lymphoblastic leukemia (T ALL) and lymphoblastic lymphoma (LBL)
Kaneko Y, Frizzera G, Shikano T, Kobayashi H, Maseki N, Sakurai M
Leukemia 1989 Dec;3(12):886-92
PMID 2586183
Cytogenetic responses in high-risk myelodysplastic syndrome following low-dose treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine
Lübbert M, Wijermans P, Kunzmann R, Verhoef G, Bosly A, Ravoet C, Andre M, Ferrant A
Br J Haematol 2001 Aug;114(2):349-57
PMID 11529854
Erythroblastic and/or megakaryocytic dysplasia in de novo acute myeloid leukemias M0-M5 show relation to myelodysplastic syndromes and delimit two main categories
Lemez P, Gáliková J, Haas T
Leuk Res 2000 Mar;24(3):207-15
PMID 10739003
Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-
Mallo M, Arenillas L, Espinet B, Salido M, Hernández JM, Lumbreras E, del Rey M, Arranz E, Ramiro S, Font P, González O, Renedo M, Cervera J, Such E, Sanz GF, Luño E, Sanzo C, González M, Calasanz MJ, Mayans J, García-Ballesteros C, Amigo V, Collado R, Oliver I, Carbonell F, Bureo E, Insunza A, Yañez L, Muruzabal MJ, Gómez-Beltrán E, Andreu R, León P, Gómez V, Sanz A, Casasola N, Moreno E, Alegre A, Martín ML, Pedro C, Serrano S, Florensa L, Solé F
Haematologica 2008 Jul;93(7):1001-8
PMID 18591625
Cytogenetic manifestations of multiple myeloma heterogeneity
Pantou D, Rizou H, Tsarouha H, Pouli A, Papanastasiou K, Stamatellou M, Trangas T, Pandis N, Bardi G
Genes Chromosomes Cancer 2005 Jan;42(1):44-57
PMID 15495197
Hematologic, clinical, and cytogenetic analysis in 109 patients with primary myelodysplastic syndrome
Parlier V, van Melle G, Beris P, Schmidt PM, Tobler A, Haller E, Bellomo MJ
Prognostic significance of morphology and chromosome findings Cancer Genet Cytogenet
PMID 7828157
Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821
Raimondi SC, Chang MN, Ravindranath Y, Behm FG, Gresik MV, Steuber CP, Weinstein HJ, Carroll AJ
Blood 1999 Dec 1;94(11):3707-16
PMID 10572083
Cytogenetic evolution correlates with poor prognosis in myelodysplastic syndrome
Wang H, Wang XQ, Xu XP, Lin GW
Cancer Genet Cytogenet 2010 Jan 15;196(2):159-66
PMID 20082852
Cytogenetic and molecular diagnosis of chromosome 5 deletions in myelodysplasia
Westbrook CA, Hsu WT, Chyna B, Litvak D, Raza A, Horrigan SK
Br J Haematol 2000 Sep;110(4):847-55
PMID 11054067
Long-term cytogenetic studies in acute leukemia of children; the nature of relapse
Zuelzer WW, Inoue S, Thompson RI, Ottenbreit MJ
Am J Hematol 1976;1(2):143-90
PMID 1069473


This paper should be referenced as such :
Adriana Zamecnikova
del(1p) solely
Atlas Genet Cytogenet Oncol Haematol. 2018;22(6):252-254.
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