Document Detail

Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome.
MedLine Citation:
PMID:  20586629     Owner:  NLM     Status:  MEDLINE    
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.
Sameer S Talwalkar; C Cameron Yin; Rizwan C Naeem; M John Hicks; Louise C Strong; Lynne V Abruzzo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of pathology & laboratory medicine     Volume:  134     ISSN:  1543-2165     ISO Abbreviation:  Arch. Pathol. Lab. Med.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-30     Completed Date:  2010-07-20     Revised Date:  2010-09-21    
Medline Journal Info:
Nlm Unique ID:  7607091     Medline TA:  Arch Pathol Lab Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1010-5     Citation Subset:  AIM; IM    
Department of Hematopathology,University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.
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MeSH Terms
Chromosome Aberrations
Chromosomes, Human, Pair 5
Cytogenetic Analysis
Fatal Outcome
Genes, p53*
Germ-Line Mutation*
Glioblastoma / complications
Leukemia, Myeloid, Acute / etiology
Li-Fraumeni Syndrome / complications*,  genetics*
Middle Aged
Myelodysplastic Syndromes / complications*,  genetics*
Pancytopenia / complications

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