Trisomy 11 in myelodysplastic syndromes defines a unique group of disease with aggressive clinicopathologic features.
Trisomy 11 in myelodysplastic syndromes (MDS) is rare, with undefined clinical significance and is currently assigned to the International Prognostic Scoring System (IPSS) intermediate-risk group. Over a 15-year period, we identified 17 MDS patients with trisomy 11 either as a sole abnormality (n=10) or associated with one or two additional alterations (n=7), comprising 0.3% of all MDS cases reviewed. Of 16 patients with Bone Marrow material available for review, 14 (88%) patients presented with excess blasts, 69% patients evolved to acute myeloid leukemia (AML) in a 5-month median interval and the median survival was 14 months. For comparison, we studied 19 AML patients with trisomy 11 in a noncomplex karyotype, of which, a substantial subset of patients had morphologic dysplasia, and/or preexisting cytopenia(s)/MDS. Genomic DNA PCR showed MLL partial tandem duplication in 5 of 10 MDS and 7 of 11 AML patients. A review of literature identified 17 additional cases of MDS with trisomy 11, showing similar clinicopathologic features to our patients. Compared with our historical data comprising 1165 MDS patients, MDS patients with trisomy 11 had a significantly inferior survival to patients in the IPSS intermediate-risk cytogenetic group (P=0.0002), but comparable to the poor-risk group (P=0.97). We conclude that trisomy 11 in MDS correlates with clinical aggressiveness, may suggest an early/evolving AML with myelodysplasia-related changes and is best considered a high-risk cytogenetic abnormality in MDS prognostication.
Wang
S A
SA
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA. swang5@mdanderson.org
Jabbar
K
K
Lu
G
G
Chen
S S
SS
Galili
N
N
Vega
F
F
Jones
D
D
Raza
A
A
Kantarjian
H
H
Garcia-Manero
G
G
McDonnell
T J
TJ
Medeiros
L J
LJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015139:Blotting, Southern; D025063:Chromosome Disorders / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D011905:Genes, ras / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras); D012189:Retrospective Studies; D015996:Survival Rate; D014314:Trisomy / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics; D018631:ras Proteins / Q000235:genetics
D004273:DNA, Neoplasm; C497422:KMT2A protein, human; C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins