Atlas of Genetics and Cytogenetics in Oncology and Haematology
Trisomy 2
| Clinics and Pathology |
| Note | Trisomy 2 (+2) is a rare yet recurrent finding in myelodysplastic syndrome (MDS) but occurs more frequently in acute myeloid leukaemia(AML) in combination with other chromosomal abnormalities. It is a recognised chromosomal change in other neoplasms, in particular hepatoblastomas and has been described in fibrous dysplasia, pleuropulmonary blastoma, proliferative myositis, nasopharyngeal carcinoma and solated trisomy 2 has been reported in 4 cases of MDS and in two patients with MDS transforming to AML . These cases account for the following stages of MDS refractory anaemia (RA), RA with excess blasts (RAEB), RA with excess blasts in transformation (RAEB-t) and chronic myelomonocytic leukaemia (CMML). It has been suggested that the presence of trisomy 2 in MDS is an early genetic event that, in combination with other chromosomal changes, may give rise to AML. All of the reported cases appear to be mosaic in nature, and thus its true incidence may be higher. Further case reports are needed to ascertain the effect of trisomy 2 at clinical presentation in both MDS and AML, its association with progression of MDS to AML and prognostic significance. It has also been suggested that the presence of trisomy 2 may be age-related. Trisomy 2 has been observed in in vitro senescent lymphocytes in elderly patients ranging in age from 70-100 years. All the published cases of trisomy 2 as a sole abnormality in MDS fall within this age range and thus the possibility that the presence of trisomy 2 may be an age-related phenomenon cannot be excluded. |
| Prognosis | Trisomy 2 may define a distinct subtype of MDS, which in combination with further clonal chromosomal changes gives rise to AML. Further cases need to be collated to substantiate this. |
| Cytogenetics |
| Note | The patient is a 73-year-old Asian male with rheumatoid arthritis, ischaemic heart disease, benign prostate hyperplasia and b-thalassaemia trait who presented with severe anaemia. Patient¹s blood film showed erythrocyte anisocytosis and poikilocytosis, platelet anisocytosis and dysplastic neutrophils. Blood counts showed: haemoglobin 9.4 g/dL, white cell count 6.8x10sup>99 |
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| GTG-banded karyotype showing 47,XY,+2. | |
| 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 |
| Trisomy 2 in proliferative fasciitis. |
| Dembinski A, Bridge JA, Neff JR, Berger C, Sandberg AA |
| Cancer genetics and cytogenetics. 1992 ; 60 (1) : 27-30. |
| PMID 1591703 |
| Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes. |
| Solˆ© F, Prieto F, Badia L, Woessner S, Florensa L, Caballin MR, Coll MD, Besses C, Sans-Sabrafen J |
| Cancer genetics and cytogenetics. 1992 ; 64 (1) : 12-20. |
| PMID 1458444 |
| Cytogenetic studies in three xenografted nasopharyngeal carcinomas. |
| Bernheim A, Rousselet G, Massaad L, Busson P, Tursz T |
| Cancer genetics and cytogenetics. 1993 ; 66 (1) : 11-15. |
| PMID 8467469 |
| Trisomy 2 found in proliferative myositis cultured cell. |
| Ohjimi Y, Iwasaki H, Ishiguro M, Isayama T, Kaneko Y |
| Cancer genetics and cytogenetics. 1994 ; 76 (2) : page 157. |
| PMID 7923069 |
| Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. A report on 94 cases. Groupe Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique (GFCH). |
| Hematology and cell therapy. 1996 ; 38 (2) : 177-181. |
| PMID 8931999 |
| Pleuropulmonary blastoma: fluorescence in situ hybridization analysis indicating trisomy 2. |
| Yang P, Hasegawa T, Hirose T, Fukumoto T, Uyama T, Monden Y, Sano T |
| The American journal of surgical pathology. 1997 ; 21 (7) : 854-859. |
| PMID 9236843 |
| Karyotypic analyses of hepatoblastoma. Report of two cases and review of the literature suggesting chromosomal loci responsible for the pathogenesis of this disease. |
| Nagata T, Mugishima H, Shichino H, Suzuki T, Chin M, Koshinaga S, Inoue M, Harada K |
| Cancer genetics and cytogenetics. 1999 ; 114 (1) : 42-50. |
| PMID 10526534 |
| Recurrent chromosome aberrations in fibrous dysplasia of the bone: a report of the CHAMP study group. CHromosomes And MorPhology. |
| Dal Cin P, Sciot R, Brys P, De Wever I, Dorfman H, Fletcher CD, Jonsson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Tallini G, Van den Berghe H, Vanni R, Willen H |
| Cancer genetics and cytogenetics. 2000 ; 122 (1) : 30-32. |
| PMID 11104029 |
| Chromosome studies of in vitro senescent lymphocytes: nonrandom trisomy 2. |
| Busson-Le Coniat M, Boucher N, Blanchˆ© H, Thomas G, Berger R |
| Annales de genetique. 2002 ; 45 (4) : 193-196. |
| PMID 12668167 |
| Mosaic trisomy 2 in myelodysplastic syndromes and acute myeloblastic leukemias. |
| Czepulkowski B, Saunders K, Pocock C, Sadullah S |
| Cancer genetics and cytogenetics. 2003 ; 145 (1) : 78-81. |
| PMID 12885468 |
| Trisomy 2 as the sole karyotypic abnormality in a lymphoproliferative disorder post-liver transplant. |
| Ferro Delgado MT, Talavera M, Garcia-Miguel P, Sordo MT, Villalon C, Leon A, Garcia-Sagredo JM, San Roman C |
| Cancer genetics and cytogenetics. 2005 ; 163 (2) : 184-185. |
| PMID 16337866 |
| Myelodysplastic syndrome associated with trisomy 2. |
| Heller M, Provan D, Amess JA, Dixon-McIver A |
| Clinical and laboratory haematology. 2005 ; 27 (4) : 270-273. |
| PMID 16048496 |
| Contributor(s) |
| Written | 04-2006 | Amanda Dixon-McIver |
| Medical Oncology, Institute of Cancer, 3rd Floor, Charterhouse Square, London, EC1M 6BQ, UK |
| Citation |
| This paper should be referenced as such : |
| Dixon-McIver A . Trisomy 2. Atlas Genet Cytogenet Oncol Haematol. April 2006 . URL : http://AtlasGeneticsOncology.org/Anomalies/Tri2ID1429.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:11:29 2008 |
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