Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene
نویسندگان
چکیده
منابع مشابه
Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene
Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin. The frequent genetic alterations that modify neurofibromin function are deletions and insertions. Duplications are rare and phenotype in patients bearing duplication of NF1 gene is thought to be restricted to developmental abn...
متن کاملPrecursors to lymphoproliferative malignancies.
We review monoclonal B-cell lymphocytosis (MBL) as a precursor to chronic lymphocytic leukemia and monoclonal gammopathy of undetermined significance (MGUS) as a precursor to plasma cell disorders. These conditions are present in the general population and increase with age. These precursors aggregate with lymphoproliferative malignancies in families suggesting shared inheritance. MBL and MGUS ...
متن کاملTORC1 Is Essential for NF1-Associated Malignancies
Inactivating mutations in NF1 underlie the prevalent familial cancer syndrome neurofibromatosis type 1 [1]. The NF1-encoded protein is a Ras GTPase-activating protein (RasGAP) [2]. Accordingly, Ras is aberrantly activated in NF1-deficient tumors; however, it is unknown which effector pathways critically function in tumor development. Here we provide in vivo evidence that TORC1/mTOR activity is ...
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Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and F...
متن کاملThe combinatorics of tandem duplication
Tandem duplication is an evolutionary process whereby a segment of DNA is replicated and proximally inserted. The different configurations that can arise from this process give rise to some interesting combinatorial questions. Firstly, we introduce an algebraic formalism to represent this process as a word producing automaton. The number of words arising from n tandem duplications can then be r...
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ژورنال
عنوان ژورنال: Case Reports in Oncological Medicine
سال: 2014
ISSN: 2090-6706,2090-6714
DOI: 10.1155/2014/685857