+5 or trisomy 5

2002-05-01 Edmond Ma , Thomas Wan Affiliation

1.Hematology Division, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, P.R. China

Clinics and Pathology

Disease

Trisomy 5 is found in both acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML), but very rarely as the sole karyotypic abnormality.

Clinics

In childhood ALL, an extra chromosome 5 is commonly encountered in cases with hyperdiploidy > 50 chromosomes. The presence of trisomy 5 in high hyperdiploid childhood ALL is associated with a less favourable clinical outcome. Trisomy 5 as a sole abnormality in ALL is exceedingly rare and described in only 3 cases, including 2 adult ALL and 1 paediatrics case occurring in a 12-year old girl.Trisomy 5 has been described in 19 cases of AML. Gain of chromosome 5 usually occurs in association with other cytogenetics aberrations, although very rarely it may exist as the sole abnormality. A case of AML-M2 with normal karyotype at diagnosis showed trisomy 5 as the sole abnormality at relapse, and a case of AML-M5 showed trisomy 5 as the only chromosome aberration in 3% of 59 metaphases at presentation. A further case of AML-M4 showed a clone with trisomy 5 as the sole abnormality together with a second clone with trisomy 5 and evolutionary change. In the other 16 cases, trisomy 5 was found in association with numerical (n = 4), structural changes (n = 4), or both numerical and structural changes (n = 8).

A number of interesting observations with respect to AML and trisomy 5 should be noted. First, an association between trisomy 5 and t(8;21) (n = 3) and trisomy 8 (n = 6) is observed. Second, five out of 6 cases with concurrent trisomies 5 and 8 show monocytic differentiation and are diagnosed as either AML-M4 or M5. Finally, trisomy 5 has been described in all FAB subtypes of AML except acute promyelocytic leukaemia.Given the rarity of trisomy 5 in AML, it is possible that the associated cytogenetic aberrations such as t(8;21) or trisomy 8 and not trisomy 5 per se that predicts for the myeloid phenotype.

Prognosis

Trisomy 5 in childhood ALL with hyperdiploidy > 50 chromosomes is associated with a poorer clinical outcome. Among the 3 cases of ALL with trisomy 5 as the sole karyotypic abnormality, 2 (one case each of adult and paediatric ALL) showed short survival whilst one adult ALL case showed event free survival of 4 years off chemotherapy.

Among 19 AML patients with trisomy 5, complete remission was achieved in 8 and the median overall survival was 15 months. For the remaining 11 patients, 2 achieved partial remission and died, 4 did not attain remission at all, 1 was not treated, and the status of 4 patients was unknown.

Article Bibliography

Pubmed ID	Last Year	Title	Authors
273006	1978	Multiple leukemic clones in acute leukemia of childhood.	Morse HG et al
1453770	1992	Abnormalities of chromosome 16q in myeloid malignancy: 14 new cases and a review of the literature.	Betts DR et al
1638509	1992	A case of trisomy 5 in a Philadelphia positive leukemia.	Smadja N et al
1884348	1991	Unusual translocations and other changes in acute leukemia.	Ferro MT et al
2388480	1990	Clinical and cytogenetic correlations of abnormal megakaryocytopoiesis in patients with acute leukemia and chronic myelogenous leukemia in blast crisis.	Lee EJ et al
2397470	1990	Cytogenetic study of a case of childhood erythroleukemia.	Duarte MH et al
2747268	1989	Specific chromosome changes and nonoccupational exposure to potentially carcinogenic agents in acute leukemia in China.	Li YS et al
3193811	1988	Detection of karyotypic abnormalities in most patients with acute nonlymphocytic leukemia by adding ethidium bromide to short-term cultures.	Misawa S et al
3455871	1986	Acute myelogenous leukemia with translocation t(8;21): a cytogenetic study of seven cases.	Sessarego M et al
3461872	1986	Myeloblastoma with an 8;21 chromosome translocation in acute myeloblastic leukemia.	Abe R et al

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Citation

Edmond Ma ; Thomas Wan

+5 or trisomy 5

Atlas Genet Cytogenet Oncol Haematol. 2002-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1255/+5-or-trisomy-5