+16 or trisomy 16 (solely)

2009-05-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Haematological malignancies


Trisomy 16 solely has been found in only 14 cases of blood malignancies so far.

Phenotype stem cell 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).


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.


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+).


Solid tumours


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).

Genes Involved and Proteins


Pubmed IDLast YearTitleAuthors
185340632008Cytogenetic profile of acute lymphocytic leukemia patients: report of a novel translocation t(4;13) (q21 x 3; q35) from an Indian population.Ahmad F et al
19848371991Karyotypic abnormalities and immunoglobulin gene rearrangements in Hodgkin's disease.Banks RE et al
107482942000Cytogenetic 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 et al
185172802008Cytogenetic studies of 24 renal epithelial tumors with von Hippel-Lindau and fragile histidine triad protein expression correlation.Gayrard N et al
114634592001Trisomy 16 as the sole anomaly in hematological malignancies. Three new cases and a short review.Guillaume B et al
86033371996Cytogenetic survey of 53 Moroccan patients with acute myeloblastic leukemia.Hda N et al
38579671985Karyotypic and clinical findings in a consecutive series of children with acute lymphocytic leukemia.Heerema NA et al
34091861988Chromosome abnormalities and karyotypic evolution in 83 patients with myelodysplastic syndrome and predictive value for prognosis.Horiike S et al
158097632005Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas.Kardas I et al
65745881983Correlation between chromosomal pattern, cytological subtypes, response to therapy, and survival in acute myeloid leukaemia.Li YS et al
97729191998Trisomy 16 as the primary chromosome aberration in a papilloma of the breast.Lundin CP et al
129397412003Cytogenetic characterization of tumors of the vulva and vagina.Micci F et al
34846711986Sequential chromosome abnormalities in B cell chronic lymphocytic leukemia: a study of 13 cases.Ohtaki K et al
63189641984Chromosomes and causation of human cancer and leukemia. LII. Chromosome findings in treated patients with B-cell chronic lymphocytic leukemia.Sadamori N et al
123932772002Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro.Silva ML et al
38552851985Chromosomal alterations in acute leukemia patients studied with improved culture methods.Testa JR et al
115599482001TEL/AML1 rearrangement and the prognostic significance in childhood acute lymphoblastic leukemia in Hong Kong.Tsang KS et al
117135982001Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization.Verdorfer I et al
12601291976Preferential involvement of chromosomes no. 8 and no. 21 in acute leukemia and preleukemia.Yamada K et al


Class disease



Jean-Loup Huret

+16 or trisomy 16 (solely)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1537/+16-or-trisomy-16-(solely)