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9p Rearrangements in ALL

Written1999-08Nyla A Heerema
The Ohio State University, Division of Clinical Pathology, Department of Pathology, 167 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210, USA

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1156
  del(9p)  G- banding - Courtesy Jean-Luc Lai and Alain Vanderhaegen (left), and, from middle left to right: del(9)(p13), del(9)(p21), and del(9)(p22) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services; Hybridization with Vysis CDKN2A/CEP9 probe showing 2 green and 2 red signals on normal and one red signal on metaphase with 9p deletion. – Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease acute lymphocycic leukemia (ALL)
Phenotype / cell stem origin lack of specificity for a particular immunophenotype
Epidemiology approximately 10% of childhood ALL, similar in adult ALL
Prognosis recent data indicate that an abnormal 9p is an adverse risk factor for B-lineage, but not T-lineage pediatric patients; this is more pronounced in standard-risk patients (age 1 - 9 years with WBC count <50 X 109/l); a dic(9;12)(p11-13;p11-12) has been reported to have a very low relapse rate


Cytogenetics Morphological various aberrations result in an abnormal 9p; these include monosomy 9, del(9p), add(9p), der(9)t(V;9)(V;p), dic(V;9)(V;p), i(9q) and balanced translocations with 9p breakpoints; dicentric chromosomes in ALL nearly always involve a chromosome 9; an abnormal 9p usually occurs as part of a more complex karyotype; it occurs as a sole aberration in less than 10% of cases with an abnormal 9p
Additional anomalies additional anomalies are frequent; an abnormal 12p is particularly frequent (16% of cases), and a deletion of 6q is also frequent (11% of cases)

Genes involved and Proteins

Note the different types of 9p aberrations may have different molecular consequences; when a deletion of 9p occurs, the genes involved colud be MTS1/CDK4I/p16INK4A(CDKN2) and MTS2/p15INK4B(CDKN2B); these are believed to be tumor suppressor genes, and loss of heterozygosity occurs more frequently than cytogenetic deletions of 9p; however, mutation of the remaining allele is infrequent, and methylation changes may cause inactivation of the remaining allele


Dicentric (9;12) in acute lymphocytic leukemia and other hematological malignancies: report from a dic(9;12) study group.
Behrendt H, Charrin C, Gibbons B, Harrison CJ, Hawkins JM, Heerema NA, Horschler-Bötel B, Huret JL, Laï JL, Lampert F
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (1) : 102-106.
PMID 7845002
Lack of association between abnormalities of the chromosome 9 short arm and either lymphomatous features or T cell phenotype in childhood acute lymphocytic leukemia.
Carroll AJ, Castleberry RP, Crist WM
Blood. 1987 ; 69 (3) : 735-738.
PMID 3493041
Lymphoblastic leukemia with lymphomatous features associated with abnormalities of the short arm of chromosome 9.
Chilcote RR, Brown E, Rowley JD
The New England journal of medicine. 1985 ; 313 (5) : 286-291.
PMID 3925340
Review of alterations of the cyclin-dependent kinase inhibitor INK4 family genes p15, p16, p18 and p19 in human leukemia-lymphoma cells.
Drexler HG
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (6) : 845-859.
PMID 9639410
Association of chromosome arm 9p abnormalities with adverse risk in childhood acute lymphoblastic leukemia: A report from the Children's Cancer Group.
Heerema NA, Sather HN, Sensel MG, Liu-Mares W, Lange BJ, Bostrom BC, Nachman JB, Steinherz PG, Hutchinson R, Gaynon PS, Arthur DC, Uckun FM
Blood. 1999 ; 94 (5) : 1537-1544.
PMID 10477677


This paper should be referenced as such :
Heerema, NA
9p rearrangements in ALL
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):153-154.
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External links

arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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