CASE REPORTS in HAEMATOLOGY (Paper co-edited with the European LeukemiaNet)

Isolated trisomy 2 is non-random and may be found in myelodysplastic syndrome and in acute myeloblastic leukaemia. Case 1

Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï

Clinics

Age and sex :	58 year(s) old male patient.
Previous History :	preleukemia
	no previous malignant disease
	no inborn condition of note
Organomegaly :	no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement

Blood

WBC : 1.9 x 109/l; Hb : 9.1 g/dl; platelets : 282 x 109/l;

Bone marrow : 1.4% (blasts)

Cyto pathology classification

Precise diagnosis : MDS: refractory cytopenia with multilineage dysplasia.

Survival

Date of diagnosis: 1979

Treatment : Red cell transfusion monthly

Complete remission was obtained

Treatment related death : -

Relapse : -

Status : Alive 08-2005

Survival : 26 year(s)

Karyotype

Sample : Bone marrow ; culture time : 24/48 h ; banding : GTG

Results : 46,XY, [6]/ 47, XY, +2 [14]

Other molecular cytogenetics technics : FISH using the BAC probe RP11-375H16 (2q23.1).

Other molecular cytogenetics results : 59% normal metaphases and 41% of metaphases with 3 chromosomes 2.

G-banding karyotype revealed isolated trisomy 2 of case 1.

Comments

Trisomy 2 as single chromosomal abnormality appears to be associated with MDS on the contrary to AML where it is frequently encountered in association to other unbalanced chromosomal abnormalities [ref.1]. This observation therefore suggests that trisomy 2 could be an early genetic abnormality in MDS. Indeed, from the 9 MDS/AML described cases with isolated trisomy 2 (including our 2 cases), 7 cases revealed isolated trisomy 2 at MDS presentation. MDS in transformation was diagnosed among the 4 oldest patients, though age does not carry prognostic significance according to the IPSS [ref.2]. 5 of the 9 published cases evolved to acute leukaemia.

Internal links

Atlas Card	+2 or trisomy 2
Case Report	Isolated trisomy 2, Case 2

Bibliography

International scoring system for evaluating prognosis in myelodysplastic syndromes.

Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Ohyashiki K, Toyama K, Aul C, Mufti G, Bennett J.

Blood 1997; 89: 2079-2088.

PMID 9058730

Cross-validation of prognostic scores in myelodysplastic syndromes on 386 patients from a single institution confirms importance of cytogenetics.

Pfeilstöcker M, Reisner R, Nosslinger T, Gruner H, Nowotny H, Tuchler H, Schlogl E, Pittermann E, Heinz R.

Br J Haematol 1999; 106: 455-463.

PMID 10460606

Contributor(s)

Written

09-2006

Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï

Citation

This paper should be referenced as such :

Roche-Lestienne C, Charpentier A, Geffroy S, Andrieux J, Demory JL, Laï JL . Isolated trisomy 2 is non-random and may be found in myelodysplastic syndrome and in acute myeloblastic leukaemia. Case 1. Atlas Genet Cytogenet Oncol Haematol. September 2006 . URL : http://AtlasGeneticsOncology.org/Reports/02RocheID100015.html

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indexed on : Thu Apr 17 14:15:19 2008

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