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