+16 or trisomy 16 (solely)

Identity

ICD-Topo	C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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

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.

Bibliography

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Estudio citogenetico en 22 adultos y tres ninos con leucemia linfoblastica aguda.

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Cytogenetic and interphase FISH analyses of 73 basal cell and three squamous cell carcinomas: different findings in direct preparations and short-term cell cultures.

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Cytogenetic studies of 24 renal epithelial tumors with von Hippel-Lindau and fragile histidine triad protein expression correlation.

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Trisomy 16 as the sole anomaly in hematological malignancies. Three new cases and a short review.

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PMID 3409186

Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas.

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Cytogenetic studies in Hodgkin's disease.

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Trisomy 16 as the primary chromosome aberration in a papilloma of the breast.

Lundin CP, Mertens F, Ingvar C, Idvall I, Pandis N.

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Cytogenetic characterization of tumors of the vulva and vagina.

Micci F, Teixeira MR, Scheistroen M, Abeler VM, Heim S.

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Cancer Genet Cytogenet. 1984 Feb;11(2):161-8.

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Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro.

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TEL/AML1 rearrangement and the prognostic significance in childhood acute lymphoblastic leukemia in Hong Kong.

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Cytogenetic studies in patients with myelofibrosis and myeloid metaplasia.

Whang-Peng J, Lee E, Knutsen T, Chang P, Nienhuis A.

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Citation

This paper should be referenced as such :

Huret, JL

+16 or trisomy 16 (solely)

Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):429-430.

Free journal version : [ pdf ]   [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Anomalies/tri16ID1537.html

External links

arrayMap	Topo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	+16 or trisomy 16 (solely)

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