title: Li-Fraumeni syndrome in a Turkish family.
abstract: Li-Fraumeni syndrome (LFS) is one of the familial cancers characterized by different tumors and hereditary TP53 mutations. The adrenocortical carcinoma (ACC) association with acute leukemia is unusual in childhood, even in LFS. The authors here present a family with pR337P mutation in TP53 gene who had a child with acute lymphoblastic leukemia (ALL) and associated adrenocortical carcinoma as a case 1 and his cousin with brain tumor as a case 2. A hereditary TP53 mutation supported the diagnosis of LFS in this family. The patients had many difficulties in treatment strategies and succumbed to death. The availability of a reliable molecular marker to detect the R337P TP53 mutation allows the rapid identification of carriers in families that have a child with ACC. Once identified, carriers could be screened for early detection of ACC by imaging and endocrine studies and should be given psychological support to prevent anxiety for death. Whether early detection of ACC will reduce the mortality in these patients remains to be determined.
authors.affiliation: Department of Pediatrics, Division of Haematology/Oncology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. zkarakas@ist.edu.tr
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Karakas
authors.forename: Deniz
authors.initials: D
authors.lastname: Tugcu
authors.forename: Aysegul
authors.initials: A
authors.lastname: Unuvar
authors.forename: Didem
authors.initials: D
authors.lastname: Atay
authors.forename: Arzu
authors.initials: A
authors.lastname: Akcay
authors.forename: Hakan
authors.initials: H
authors.lastname: Gedik
authors.forename: Hulya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Oner
authors.initials: O
authors.lastname: Dogan
authors.forename: Sema
authors.initials: S
authors.lastname: Anak
authors.forename: Omer
authors.initials: O
authors.lastname: Devecioglu
mesh_terms: D018268:Adrenocortical Carcinoma / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D019943:Amino Acid Substitution; D001932:Brain Neoplasms / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D002675:Child, Preschool; D005190:Family; D005260:Female; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D008297:Male; D020125:Mutation, Missense; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D010375:Pedigree; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D014421:Turkey
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53