+16 or trisomy 16 (solely)

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+16 or trisomy 16 (solely)

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

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.

External links

Other database	+16 or trisomy 16 (solely)	Mitelman database (CGAP - NCBI)

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.

Bibliography

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Contributor(s)

Written	05-2009	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

This paper should be referenced as such :

Huret JL . +16 or trisomy 16 (solely). Atlas Genet Cytogenet Oncol Haematol. May 2009 .
URL : http://AtlasGeneticsOncology.org/Anomalies/tri16ID1537.html

This paper is referenced by INIST as such :

http://documents.irevues.inist.fr/bitstream/2042/44743/1/05-2009-tri16ID1537.pdf [ Bibliographic record ]

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