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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 1
 
Written2006-09Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï
(1) : Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre - CHRU de Lille, France; (2) : Département d'Hématologie, Université Catholique de Lille, France; (3) : Laboratoire d'Hématologie A, Hôpital Calmette - CHRU de Lille, France
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 ReportIsolated 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 (6) : 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, Nösslinger T, Grüner H, Nowotny H, Tüchler H, Schlögl E, Pittermann E, Heinz R
British journal of haematology. 1999 ; 106 (2) : 455-463.
PMID 10460606
 

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