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Familial and metachronous malignant lymphoma: Absence of constitutional p53 mutations
Author(s) -
Pötzsch Claudia,
Schaefer HansEckart,
Lübbert Michael
Publication year - 1999
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199911)62:3<144::aid-ajh3>3.0.co;2-q
Subject(s) - lymphoma , medicine , family history , germline mutation , leukemia , disease , mutation , oncology , cancer research , biology , gene , genetics
Familial and metachronous aggregations of malignant lymphoma are well‐documented, but the molecular basis of a predisposition for development of lymphoma is as yet unclear. Malignant lymphomas have been described as part of the spectrum of neoplasias in Li‐Fraumeni syndrome (LFS), which is associated with constitutional mutations of p53. However, p53 germline mutations have also, albeit less frequently, been described in patients not fitting the clinical definition of LFS. To clarify whether a genetic predisposition for lymphoma is associated with constitutional p53 mutations, DNA from normal blood lymphocytes of 12 lymphoma patients with a family history of lymphoma and/or with metachronous lymphoma (median age 37 years) was examined for mutations of p53 exons 4–8. One patient had four first‐degree relatives with Hodgkin's disease, acute leukemia, and carcinomas, but the family history did not fulfill criteria of LFS. Four patients with Hodgkin's disease were diagnosed with metachronous non‐Hodgkin's lymphoma as a second malignant neoplasm. No constitutional p53 mutations were detected in any of these patients, implying that outside the clinical spectrum of LFS, constitutional p53 mutations are rare in patients with lymphomas. Am. J. Hematol. 62:144–149, 1999. © 1999 Wiley‐Liss, Inc.