[1309] Trisomy 14 as the Sole Abnormality Is Associated with Heterogeneous Groups of Myeloid Malignancy and a Wide Spectrum of Disease Progression

W Cui, S Chen, J Sun, CE Bueso-Ramos, G Lu. Uinv Texas MD Anderson Cancer Center, Houston, TX

Background: Trisomy 14 as the sole abnormality is a rare finding in association with myeloid malignancy. Published literature is limited and the prognostic impact of this cytogenetic change is not well established.
Design: Patients with myeloid neoplasia that contained isolated trisomy 14 were included. Cases with i(14)(q10) as the sole acquired change were also included in the study.
Results: A total of 16 cases were identified from the database between 07/98 and 01/09 at our center. Twelve cases had trisomy 14, and 4 had i(14)(q10). The median age of disease onset is 69 years (range of 57-86 years) with a male predominance (82%). According to the 2008 WHO classification, our cases were categorized into myelodysplastic syndromes (MDS) (7 cases), myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) (5 cases), and acute myeloid leukemia (AML) (4 cases). Of the 7 MDS cases, 4 (57%) were intermediate to high risk MDS (refractory anemia with excess of blasts 1 or 2) and 3 were low risk MDS (1 refractory anemia, 2 refractory anemia with ring sideroblasts). In the MDS/MPN group, 4 cases were chronic myelomonocytic leukemia and 1 was MDS/MPN, unclassifiable. Three AML cases were classified as AML with maturation and one as AML without maturation. 43% of MDS and 20% of MDS/MPN patients evolved to AML with a median interval of 16.5 months. Mutation data of oncogene KIT, RAS, FLT3 and NPM1 were available for 14 patients and class I mutations were relatively uncommon. FLT3-ITD mutation was identified in one AML and one MDS patient, whereas K-RAS mutation was found in one MDS patient. Thirteen patients had trisomy 14 at their onset of diseases. Interestingly, 3 MDS patients initially presented with a diploid karyotype and a trisomy 14 clone occurred subsequently; 2 of the 3 patients progressed to AML. At the last follow-up, a median survival for the group of MDS, MDS/MPN, and AML was 21, 31.5, and 9 months, respectively. The 3-year overall survival rate was 50% (n=6) and 50% (n=4) for MDS, and MDS/MPN patients, respectively.
Conclusions: Trisomy14 as the sole abnormality is associated with heterogeneous groups of myeloid malignancy with a wide spectrum of disease progression. Oncogene mutations in the course of disease development are relatively uncommon. Extensive studies with larger number of patients are essential to establish the prognostic indicator of this chromosome abnormality.
Category: Hematopathology

Wednesday, March 24, 2010 1:00 PM

Poster Session VI # 188, Wednesday Afternoon

 

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