Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Li-Fraumeni Syndrome


KEY FACTS

Terminology

  • Li-Fraumeni syndrome (LFS)

  • Autosomal-dominant familial cancer syndrome

    • 75% of LFS cases have loss of function mutations in TP53 tumor suppressor gene

    • Lifelong ↑ risk of osteosarcoma, soft tissue sarcoma, leukemia, breast cancer, brain tumors, melanoma, adrenal cortical tumors

Imaging

  • Astrocytoma: Cerebrum > cerebellum > spine

  • Choroid plexus carcinoma: Lateral ventricle > > 4th ventricle

Top Differential Diagnoses

  • Hereditary syndromes causing familial cancers, including brain tumors

  • Tuberous sclerosis

  • von Hippel-Lindau

  • Medulloblastoma

  • Basal cell nevus syndrome

  • Turcot

  • Neurofibromatosis type 1

  • Carney complex

  • Melanoma-astrocytoma syndrome

Pathology

  • p53: Transcription factor important in apoptosis, cell cycle control; frequently mutated in tumors

  • Breast cancer (24-30%), soft tissue sarcoma (12-18%), brain tumors (12-14%), bone sarcoma (12-13%), adrenocortical carcinoma (6%)

Clinical Issues

  • Propensity to develop additional primary neoplasms

  • Brain tumors: High prevalence below 10 years of age

A 38-year-old woman with a history of breast cancer presented to the ER with several months of increasingly severe headache and visual difficulties. NECT scan shows a large hyperdense mass
in the right occipital region.

Axial T1 C+ FS in the same patient shows a large, intensely enhancing right occipital mass
.

Sagittal T1 C+ FS MR shows that the well-demarcated, intensely enhancing mass
abuts the dura.

Axial presurgical contrast-enhanced SPGR shows a subtle dural “tail” along the tentorium cerebelli
. Preoperative diagnosis of meningioma was confirmed at surgery. Further evaluation disclosed TP53 germline mutation, and Li-Fraumeni syndrome was diagnosed.

TERMINOLOGY

Abbreviations

  • Li-Fraumeni syndrome (LFS)

  • Li-Fraumeni-like (LFL) syndromes

Synonyms

  • Sarcoma, breast, leukemia, and adrenal syndrome

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here

Related Posts