Atlas of Genetics and Cytogenetics in Oncology and Haematology

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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 2
Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï
 
Clinics
Age and sex : 69 year(s) old female patient.
Previous History : no 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 : 1.7 x 109/l; Hb : 7.4 g/dl; platelets : 45 x 109/l;
Bone marrow : 85% (blasts)
Cyto pathology classification
Immunophenotype : CD34+,CD13+, CD33+ HLA-DR+, CD14-,CD15-, CD19-, CD10-, CD2-.
Precise diagnosis : AML-M1
Survival
Date of diagnosis: 12-2000
Treatment : Daunorobucin and cytosine-arabinoside.
Complete remission was obtained
Treatment related death : Died after several septicemic episodes during bone marrow suppression treatment.
Relapse : -
Status : Dead 05-2001
Survival : 12 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24/48 h ; banding : GTG
Results : 46,XX, [4]/ 47, XX,+2 [18]
Other molecular cytogenetics technics : FISH using the BAC probe RP11-375H16 (2q23.1).
Other molecular cytogenetics results : 20% normal metaphases and 80% of metaphases with 3 chromosomes 2.
G-banding karyotype revealed isolated trisomy 2 of case 2.
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 ReportIsolated trisomy 2, Case 1
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)
Written09-2006Catherine 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 2. Atlas Genet Cytogenet Oncol Haematol. September 2006 .
URL : http://AtlasGeneticsOncology.org/Reports/02RocheID100016.html

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