Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome

BACKGROUND. Li-Fraumeni syndrome (LFS) is characterized by a plethora of ca ncers, most prominent of which is carcinoma of the breast followed by sarco mas, brain tumors, leukemia, lymphoma, lung carcinoma, and adrenocortical c arcinoma (therefore, also referred to by the acronym SBLA syndrome). METHODS. The family reported herein was first described 2 decades ago. Now extensive fellow-up has shown the predictable occurrence of these tumor typ es, in addition to an excess of brain tumors and the finding of Sturge-Webe r syndrome (SWS) in an LFS-affected family member. RESULTS. A possible new feature of the disorder, suggestive of SWS, was ide ntified in a patient in the direct genetic lineage. This patient had a rhab domyosarcoma of the eyelid at age 29 months and at age 14 years was diagnos ed with lymphoblastic lymphoma/acute lymphoblastic leukemia. A remarkable e xcess of brain tumors was identified in this family through this current up date. The p53 germ-line mutation was not identified in any affected member of this family. CONCLUSIONS. To the authors' knowledge, this is the first example of SWS in the context of LFS. Brain tumors appear to be an important component of th e tumor spectrum of LFS, as evidenced in this family. (C) 2000 American Can cer Society.