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del(1p) solely

Written2017-05Adriana Zamecnikova
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.

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

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Identity

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

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
  

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Citation

This paper should be referenced as such :
Zamecnikova A
del(1p) solely;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/del1pID1501.html


External links

arrayMapMorph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9732/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
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