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- Title
Myelodysplastic Syndromes Arising in Patients With Germline TP53 Mutation and Li-Fraumeni Syndrome.
- Authors
Talwalkar, Sameer S.; Yin, C. Cameron; Naeem, Rizwan C.; Hicks, M. John; Strong, Louise C.; Abruzzo, Lynne V.
- Abstract
Context.--Li-Fraumeni syndrome (LFS), characterized by predisposition to early onset of a variety of malignancies, is usually associated with germline mutation of the tumor-suppressor gene, TP53. Mutation carriers are at increased risk of multiple primary tumors, many of which arise in previous radiation-therapy sites. In patients with LFS, acute myeloid leukemia is uncommon and myelodysplastic syndrome (MDS) is rare. Objective.--To evaluate the morphologic, cytogenetic, and molecular diagnostic findings of 3 unique cases of MDS arising in patients with germline TP53 mutation, 2 with classic LFS. Design.--We searched the Li-Fraumeni Syndrome Registry in the Department of Genetics at the University of Texas M. D. Anderson Cancer Center (Houston, Texas) and identified 3 patients with documented germline TP53 mutations or LFS who had developed MDS during a period of 6 years (2000-2005). The clinical, cytogenetic, and molecular diagnostic data and bone marrow aspirate smears and biopsies on all patients were reviewed. Immunohistochemical staining with antibody to p53 was also performed. Results.--Two patients met the criteria for classic LFS; one had no history of malignancy in first-degree relatives. The MDS followed chemotherapy and radiation therapy and progressed to acute myeloid leukemia in 2 patients. Cytogenetic analysis demonstrated chromosome 5 abnormalities in a complex karyotype in all cases. Two patients died, one of acute myeloid leukemia and one with glioblastoma multiforme, MDS, and persistent pancytopenia. Conclusions.--Patients with LFS may develop MDS, which is most likely therapy-related and is associated with cytogenetic markers of poor prognosis.
- Subjects
MYELODYSPLASTIC syndromes; GERM cells; GENETIC mutation; TUMOR suppressor genes; TUMORS; IMMUNOHISTOCHEMISTRY; MYELOID leukemia
- Publication
Archives of Pathology & Laboratory Medicine, 2010, Vol 134, Issue 7, p1010
- ISSN
0003-9985
- Publication type
Article
- DOI
10.5858/2009-0015-oa.1