Syndromes Associated with Brain Tumors

Abstract

Less than 5% of brain tumors are associated with syndromes of genetic mutations. These syndromes are often underdiagnosed. When evaluating brain tumor, clinician should suspect and try to recognize these syndromes. Red flag signs of cancer predisposing syndromes (CPS) include cancer in early age, multiple synchronous or metachronous tumors, rarer histologies, congenital anomalies, certain skin disorders, and clustering of certain types of cancer among family members. CPS are associated with mutations in tumor suppressor genes and are inherited in autosomal dominant pattern. Early diagnosis is helpful in clinical care and also implementing risk reduction strategies like cancer screening for patients and their family. Genetic counseling is an essential component of management. Certain genetic tests are available to confirm diagnosis. Managing these syndromes needs a multidisciplinary team of geneticists, genetic counselors, and social workers alongside oncologists. Discussion related to family planning is important to reduce the chances of carrying these genes in the offspring. Commonly encountered CPS are neurofibromatosis type-1 and -2, tuberous sclerosis, and von Hippel–Lindau syndrome. Other rare syndromes include Cowden syndrome, Turcot syndrome, Gorlin syndrome, Li–Fraumeni syndrome, ataxia telangiectasia, Carney complex, and DICER1 syndrome.

In this chapter, we discuss common ones and enlist the rare ones.