Isolated trisomy 2 is non-random and may be found in myelodysplastic syndrome and in acute myeloblastic leukaemia. Case 1
2006-09-01 Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï Affiliation(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
Previous history
Preleukaemia
+
Malignant disease
-
Inborn condition
-
Clinics case report
Age
58 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
1.9
Hb
9.1
Platelets
282
Blasts
0
Bone marrow
1.4 blasts
Cyto path
Precise diagnosis
MDS: refractory cytopenia with multilineage dysplasia.
Survival data
Date diagnosis
1979
Treatment
Red cell transfusion monthly
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
08-2005
Survival
26 yrs +
Karyotype
Sample
Bone marrow
Culture time
24/48
Banding
GTG
Results
46,XY, [6]/ 47, XY, +2 [14]
Mol cytogenet technics
FISH using the BAC probe RP11-375H16 (2q23.1).
Mol cytogenet results
59% normal metaphases and 41% of metaphases with 3 chromosomes 2.
Images
G-banding karyotype revealed isolated trisomy 2 of case 1.
Comments section
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9058730 | 1997 | International scoring system for evaluating prognosis in myelodysplastic syndromes. | Greenberg P et al |
| 10460606 | 1999 | Cross-validation of prognostic scores in myelodysplastic syndromes on 386 patients from a single institution confirms importance of cytogenetics. | Pfeilstöcker M et al |
Citation
Catherine Roche-Lestienne, Agnès Charpentier, Sandrine Geffroy, Joris Andrieux, Jean-Loup Demory, Jean-Luc Laï
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. 2006-09-01
Online version: http://atlasgeneticsoncology.org/case-report/208813/gene-explorer/new-content/submit-meetings/deep-insight-explorer/
