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+16 or trisomy 16 (solely)

Written2009-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1537

Clinics and Pathology

Disease Haematological malignancies
Note Trisomy 16 solely has been found in only 14 cases of blood malignancies so far.
Phenotype / cell stem origin Acute lymphoblastic leukemia (B-ALL in 5 cases, ALL not otherwise specified (NOS) in the 3 remaining cases) (Ahmad et al., 2008; Arana-Trejo et al., 1993; Guillaume et al., 2001; Heerema et al., 1985; Silva et al., 2002; Testa et al., 1985; Tsang et al., 2001; Yamada and Furusawa, 1976), acute myeloid leukemia (one M2-AML, one AML-NOS) (Hda et al., 1996; Li et al., 1983), myelodysplastic syndromes (one case of refractory anemia (RA) and 2 cases of refractory anemia with excess of blasts (RAEB)) (Horiike et al., 1988; Guillaume et al., 2001), myeloproliferative syndromes (idiopathic myelofibrosis, one case) (Whang-Peng et al., 1978), chronic lymphocytic leukemia (2 cases, Ohtaki et al., 1986; Sadamori et al., 1984) and Hodgkin disease (2 cases, Banks et al., 1991; Kristoffersson et al., 1987).
Epidemiology The ALL cases were 4M/3F, aged 2, 5, 18, 24, 32 and 35 years. The myeloid cases were 2M/3F, aged 1, 26, 33, 49 and 61 years.
Prognosis Survival in myeloid cases was the following: patients deceased at 11, 33, 52 and 60 months (the latter in the idiopathic myelofibrosis case), one patient was still alive at 22 months. Data is even scarcer in the ALL cases (10, 24+, 58+).

Disease Solid tumours
Note Trisomy 16 solely is a very rare anomaly in solid tumours; it has been detected in 2 cases of adenocarcinoma of the kidney (Gayrard et al., 2008; Kardas et al., 2005), one adenocarcinoma of the prostate (Verdorfer et al., 2001), in one case of basal cell carcinoma of the skin (Casalone et al., 2000), in a case of squamous cell carcinoma of the vagina (Micci et al., 2003) and in a case of intraductal papilloma of the breast (Lundin et al., 1998).


Cytogenetics Molecular To be noted is that a cryptic ETV6/RUNX1 was found in one case of common ALL (Tsang et al., 2001).

Genes involved and Proteins

Note Genes involved in the process giving rise to the trisomy 16, as well as the consequences of trisomy 16 in terms of carcinogenesis are unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Cytogenetic profile of acute lymphocytic leukemia patients: report of a novel translocation t(4;13) (q21 x 3; q35) from an Indian population.
Ahmad F, Dalvi R, Chavan D, Das BR, Mandava S.
Hematology. 2008 Feb;13(1):28-33.
PMID 18534063
Estudio citogenetico en 22 adultos y tres ninos con leucemia linfoblastica aguda.
Arana-Trejo RM, Cervantes-Peredo A, Rozen E, Kassack JJ, Gutierrez M, Kofman-Alfaro S.
Rev Inv Clin. 1993;45:43-8.
Karyotypic abnormalities and immunoglobulin gene rearrangements in Hodgkin's disease.
Banks RE, Gledhill S, Ross FM, Krajewski A, Dewar AE, Weir-Thompson EM.
Cancer Genet Cytogenet. 1991 Jan;51(1):103-11.
PMID 1984837
Cytogenetic and interphase FISH analyses of 73 basal cell and three squamous cell carcinomas: different findings in direct preparations and short-term cell cultures.
Casalone R, Mazzola D, Righi R, Granata P, Minelli E, Salvadore M, Lombardo M, Bertani E.
Cancer Genet Cytogenet. 2000 Apr 15;118(2):136-43.
PMID 10748294
Cytogenetic studies of 24 renal epithelial tumors with von Hippel-Lindau and fragile histidine triad protein expression correlation.
Gayrard N, Cacheux V, Iborra F, Mourad G, Argiles A.
Arch Pathol Lab Med. 2008 Jun;132(6):965-73.
PMID 18517280
Trisomy 16 as the sole anomaly in hematological malignancies. Three new cases and a short review.
Guillaume B, Ameye G, Dierlamm J, Verhoef G, Duhem C, Ferrant A, Hagemeijer A, Verellen-Dumoulin C, Michaux L.
Cancer Genet Cytogenet. 2001 Jul 15;128(2):168-71.
PMID 11463459
Cytogenetic survey of 53 Moroccan patients with acute myeloblastic leukemia.
Hda N, Chadli B, Bousfiha A, Trachli A, Harif M, Benslimane A.
Cancer Genet Cytogenet. 1996 Feb;86(2):124-8.
PMID 8603337
Karyotypic and clinical findings in a consecutive series of children with acute lymphocytic leukemia.
Heerema NA, Palmer CG, Baehner RL.
Cancer Genet Cytogenet. 1985 Jun;17(2):165-79.
PMID 3857967
Chromosome abnormalities and karyotypic evolution in 83 patients with myelodysplastic syndrome and predictive value for prognosis.
Horiike S, Taniwaki M, Misawa S, Abe T.
Cancer. 1988 Sep 15;62(6):1129-38.
PMID 3409186
Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas.
Kardas I, Mrozek K, Babinska M, Krajka K, Hadaczek P, Lubinski J, Roszkiewicz A, Kuziemska E, Limon J.
Oncol Rep. 2005 May;13(5):949-56.
PMID 15809763
Cytogenetic studies in Hodgkin's disease.
Kristoffersson U, Heim S, Mandahl N, Olsson H, Akerman M, Mitelman F.
APMIS. 1987;95:289-95.
Correlation between chromosomal pattern, cytological subtypes, response to therapy, and survival in acute myeloid leukaemia.
Li YS, Khalid G, Hayhoe FG.
Scand J Haematol. 1983 Mar;30(3):265-77.
PMID 6574588
Trisomy 16 as the primary chromosome aberration in a papilloma of the breast.
Lundin CP, Mertens F, Ingvar C, Idvall I, Pandis N.
Cancer Genet Cytogenet. 1998 Oct 1;106(1):90-1.
PMID 9772919
Cytogenetic characterization of tumors of the vulva and vagina.
Micci F, Teixeira MR, Scheistroen M, Abeler VM, Heim S.
Genes Chromosomes Cancer. 2003 Oct;38(2):137-48.
PMID 12939741
Sequential chromosome abnormalities in B cell chronic lymphocytic leukemia: a study of 13 cases.
Ohtaki K, Han T, Sandberg AA.
Cancer Genet Cytogenet. 1986 Feb 1;20(1-2):73-87.
PMID 3484671
Chromosomes and causation of human cancer and leukemia. LII. Chromosome findings in treated patients with B-cell chronic lymphocytic leukemia.
Sadamori N, Han T, Minowada J, Sandberg AA.
Cancer Genet Cytogenet. 1984 Feb;11(2):161-8.
PMID 6318964
Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro.
Silva ML, Ornellas de Souza MH, Ribeiro RC, Land MG, Boulhosa de Azevedo AM, Vasconcelos F, Otero L, Vasconcelos Z, Bouzas LF, Abdelhay E.
Cancer Genet Cytogenet. 2002 Sep;137(2):85-90.
PMID 12393277
Chromosomal alterations in acute leukemia patients studied with improved culture methods.
Testa JR, Misawa S, Oguma N, Van Sloten K, Wiernik PH.
Cancer Res. 1985 Jan;45(1):430-4.
PMID 3855285
TEL/AML1 rearrangement and the prognostic significance in childhood acute lymphoblastic leukemia in Hong Kong.
Tsang KS, Li CK, Chik KW, Shing MM, Tsoi WC, Ng MH, Lau TT, Leung Y, Yuen PM.
Am J Hematol. 2001 Oct;68(2):91-8.
PMID 11559948
Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization.
Verdorfer I, Hobisch A, Culig Z, Hittmair A, Bartsch G, Erdel M, Duba HC, Utermann G.
Int J Oncol. 2001 Dec;19(6):1263-70.
PMID 11713598
Cytogenetic studies in patients with myelofibrosis and myeloid metaplasia.
Whang-Peng J, Lee E, Knutsen T, Chang P, Nienhuis A.
Leukemia Res. 1978;2:41-56.
Preferential involvement of chromosomes no. 8 and no. 21 in acute leukemia and preleukemia.
Yamada K, Furusawa S.
Blood. 1976 Apr;47(4):679-86.
PMID 1260129


This paper should be referenced as such :
Huret, JL
+16 or trisomy 16 (solely)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):429-430.
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arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [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]
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