Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

+18 or trisomy 18 in lymphoproliferative disorders

Written2003-09Daniel L Van Dyke
FACMG, Cytogenetics Laboratory, Mayo Clinic, USA

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 2030

Clinics and Pathology

Note Trisomy 18 seen with other abnormalities is fairly nonspecific, having been reported in most lymphoproliferative disorders. Trisomy 18 as a sole abnormality is also nonspecific, having been reported in MDS, AML, ALL (14 cases), lymphoma (3 of 6 reported cases were follicular lymphoma), Hodgkin's disease (two cases) and CLL (10 cases).
Disease Acute lymphocytic leukemia (ALL)
Note Trisomy 18 is common in hyperdiploid ALL with more than 50 chromosomes (15-27% of cases). The great majority of karyotypes with trisomy 18 also exhibit trisomy 4, 6, 10, and 14, either trisomy 21 or tetrasomy 21, and an extra X chromosome. More than half either have trisomy 17 or an isochromosome 17q. It is unusual to see trisomy 18 in a hyperdiploid ALL with fewer than 50 chromosomes. It is likewise unusual to find trisomy 18 associated with one of the common structural changes in ALL, such as the 1;19. However, at least two hyperdiploid ALL cases have been reported with trisomy 18 and tetrasomy 21 in which a t(12;21) was detected by FISH analysis; further research is indicated.
Epidemiology Of 14 reported ALL cases with trisomy 18 as the sole cytogenetic abnormality, nine were reported from India. Is there an environmental component to this unusual distribution of cases?
Prognosis The prognosis appears to be neutral to favorable in a karyotype with >51 chromosomes that includes trisomy 18. There is some evidence of an unfavorable prognosis if the karyotype is isolate trisomy 18.

Disease Multiple myeloma
Note Trisomy 18 is observed in roughly 10% or multiple myeloma (MM) karyotypes. In MM with trisomy 18, the karyotype is usually hyperdiploid (49-60 chromosomes) with multiple trisomies, tetrasomies, and structural abnormalities. The most common structural anomalies that appear with trisomy 18 are chromosome 1 rearrangements (30%) and 14q32 rearrangements (25%) about half of which are t(11;14). The most common trisomies (25-35%) are: +3, +5, +6, +9, +11, and +15, with less frequent (10-20%) trisomy 1, 10, 14, and 17, and monosomy 8.
Prognosis No correlation between trisomy 18 and prognosis.

Disease Hodgkin's disease
Note Trisomy 18 in Hodgkin's disease has been reported in a few quite complex near-triploid karyotypes (59-83 chromosomes, and in hyperdiploid karyotypes with simple trisomies and only an occasional chromosome rearrangement. Among these latter cases are two with isolated trisomy 18, and others with up to 52 chromosomes and common recurrence of trisomies 2, 7, 12, and 21.
Cytology The Hodgkin's disease cases with trisomy 18 have included both the mixed cellularity and the nodular sclerosis types.

Disease Chronic lymphocytic leukemia
Note Trisomy 18 is very uncommon in CLL. When observed, it usually presents as the sole abnormality, or with a karyotype of 49, +12, +18, +19. The karyotype is occasionally more complex.
Epidemiology Of CLL cases reported with trisomy 18, about 15% exhibited apparently independent cytogenetically abnormal cell populations, with isolated trisomy 18 as one of two, three, or more clones. The clinical significance of these clones is not understood.

Disease Non-Hodgkin's lymphoma

Trisomy 18 is observed in 15-33% of lymphomas, including diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), and marginal zone B-cell lymphoma (MZBCL). Trisomy 18 may be less frequent in other NHL sub-types.

Trisomy 18 is strongly associated with a t(14;18) or at least a 14q32 abnormality, and may represent a variant of the +der(18)t(14;18), which duplicates the segment 18pter-18q21. Trisomy 18 is rarely observed as the primary cytogenetic change in NHL.

  • In DLBCL, the karyotype with trisomy 18 is usually hyperdiploid with 47-52 chromosomes and with multiple chromosome rearrangements. Trisomy 3 accompanies trisomy 18 in about 30% of cases, and trisomies 7, 12, and 21 in about 10% each. About 10% have a t(14;18) or +der(18)(t(14;18), about 5% have a t(8;14), and another 10% have another 14q32 rearrangement. About 20% have a 6q rearrangement or an i(6)(p10) that results in loss of 6q, and about 20% have an extra X chromosome, many of which are structurally abnormal.
  • In FL, the general cytogenetic pattern of cases with trisomy 18 is similar to that of DLBCL. The principle difference is that about 75% of cases exhibit a t(14;18) or an add(14)(q32), and association of trisomy 18 and a t(8;14) is very uncommon.
  • Trisomy 18 is a recurrent finding in MZBCL, seen in 39% of cases in one study. About a third of marginal zone lymphomas with trisomy 3 also exhibit trisomy 18.
Phenotype / cell stem origin Overexpression of BCL2 has been reported in trisomy 18 without t(14;18). CGH studies suggest duplication 18q (which would include trisomy 18) tend to occur early in the cytogenetic evolution. In FL, 18q gains were most common in young males and occurred with similar frequency in FL with and without t(14;18).
Prognosis Trisomy 18 as a secondary abnormality in NHL has no significant influence on tumor grade or overall survival.


Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias.
Andreasson P, Höglund M, Békássy AN, Garwicz S, Heldrup J, Mitelman F, Johansson B
European journal of haematology. 2000 ; 65 (1) : 40-51.
PMID 10914938
Clinical implications of cytogenetic classification in adult acute lymphoblastic leukaemia patients.
Ankathil R, Geetha N, Remani P, Gangadharan VP, Pillai GR, Nair MK
Journal of cancer research and clinical oncology. 1996 ; 122 (6) : 370-373.
PMID 8642049
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 ; 18 (2) : 84-93.
PMID 9115968
Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features.
Dierlamm J, Pittaluga S, Wlodarska I, Stul M, Thomas J, Boogaerts M, Michaux L, Driessen A, Mecucci C, Cassiman JJ, De Wolf-Peeters C, Van den Berghe H
Blood. 1996 ; 87 (1) : 299-307.
PMID 8547655
Trisomy of leukemic cell chromosomes 4 and 10 identifies children with B-progenitor cell acute lymphoblastic leukemia with a very low risk of treatment failure: a Pediatric Oncology Group study.
Harris MB, Shuster JJ, Carroll A, Look AT, Borowitz MJ, Crist WM, Nitschke R, Pullen J, Steuber CP, Land VJ
Blood. 1992 ; 79 (12) : 3316-3324.
PMID 1596572
Prognostic impact of trisomies of chromosomes 10, 17, and 5 among children with acute lymphoblastic leukemia and high hyperdiploidy (> 50 chromosomes).
Heerema NA, Sather HN, Sensel MG, Zhang T, Hutchinson RJ, Nachman JB, Lange BJ, Steinherz PG, Bostrom BC, Reaman GH, Gaynon PS, Uckun FM
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2000 ; 18 (9) : 1876-1887.
PMID 10784628
Importance of using comparative genomic hybridization to improve detection of chromosomal changes in childhood acute lymphoblastic leukemia.
Jarosová M, Holzerová M, Jedlicková K, Mihál V, Zuna J, Starý J, Pospísilová D, Zemanová Z, Trka J, Blazek J, Pikalová Z, Indrák K
Cancer genetics and cytogenetics. 2000 ; 123 (2) : 114-122.
PMID 11156736
Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas.
Jerkeman M, Johansson B, Akerman M, Cavallin-Stå E, Kristoffersson U, Mitelman F
European journal of haematology. 1999 ; 62 (3) : 184-190.
PMID 10089896
Phenotypic and genotypic characterization of Hodgkin's disease.
Koduru PR, Susin M, Schulman P, Catell D, Goh JC, Karp L, Broome JD
American journal of hematology. 1993 ; 44 (2) : 117-124.
PMID 8266916
Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A
Cancer genetics and cytogenetics. 2001 ; 126 (1) : 45-51.
PMID 11343778
Clinical and morphologic features of B-cell small lymphocytic lymphoma with del(6)(q21q23).
Offit K, Louie DC, Parsa NZ, Filippa D, Gangi M, Siebert R, Chaganti RS
Blood. 1994 ; 83 (9) : 2611-2618.
PMID 8167342
Cytogenetic findings in 200 patients with multiple myeloma.
Sawyer JR, Waldron JA, Jagannath S, Barlogie B
Cancer genetics and cytogenetics. 1995 ; 82 (1) : 41-49.
PMID 7627933
Chromosomal analysis in multiple myeloma: cytogenetic evidence of two different diseases.
Smadja NV, Fruchart C, Isnard F, Louvet C, Dutel JL, Cheron N, Grange MJ, Monconduit M, Bastard C
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (6) : 960-969.
PMID 9639426
Chromosomal abnormalities in indolent lymphoma.
Speaks SL, Sanger WG, Linder J, Johnson DR, Armitage JO, Weisenburger D, Purtilo D
Cancer genetics and cytogenetics. 1987 ; 27 (2) : 335-344.
PMID 3297304
Prognostic value of chromosomal abnormalities in follicular lymphoma.
Tilly H, Rossi A, Stamatoullas A, Lenormand B, Bigorgne C, Kunlin A, Monconduit M, Bastard C
Blood. 1994 ; 84 (4) : 1043-1049.
PMID 8049424
Clinicopathologic correlations of genomic gains and losses in follicular lymphoma.
Viardot A, Möller P, Högel J, Werner K, Mechtersheimer G, Ho AD, Ott G, Barth TF, Siebert R, Gesk S, Schlegelberger B, Döhner H, Bentz M
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002 ; 20 (23) : 4523-4530.
PMID 12454108
Sequential analysis of 43 patients with non-Hodgkin's lymphoma: clinical correlations with cytogenetic, histologic, immunophenotyping, and molecular studies.
Whang-Peng J, Knutsen T, Jaffe ES, Steinberg SM, Raffeld M, Zhao WP, Duffey P, Condron K, Yano T, Longo DL
Blood. 1995 ; 85 (1) : 203-216.
PMID 7803794
Follicular lymphoma with trisomy 18 and over-expression of BCL2 in the absence of t(14;18)(q32;q21).
Wong KF, Chan JK
Cancer genetics and cytogenetics. 2000 ; 123 (1) : 52-54.
PMID 11120335


This paper should be referenced as such :
Van Dyke, DL
+18 or trisomy 18 in lymphoproliferative disorders
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):277-279.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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 ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 16:40:20 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us