A 20-year-old female admitted under haematology team for acute myeloid leukaemia. During her admission, she had a whole body CT scan and was found to have a left breast lesion (proven on biopsy to have invasive ductal carcinoma) and a right adrenal mass measuring 6.5 × 7.5 cm with radiological features suggestive of an adrenocortical cancer. Biochemical workup showed raised adrenal androgens: DHA Sulphate 14.9 umol/l (4.011.0), 17-OH Progesterone 7.6 nmol/l (0.66.0), androsteinedione 59.4 nmol/l (0.97.5), testosterone 39.1 nmol/l (<1.8), plasma metanephrines and 24hour urinary cortisol were within the normal range. This patient had three synchronous malignancies diagnosed around same time at 20 years of age. Further detailed family history revealed that the patient had strong family history of deaths in younger age from malignancies including younger brother died at the age of 9 from sarcoma, mother at the age of 35 with breast cancer and the maternal aunt aged 40 from an unknown cancer. Doing Literature search, we found that this strong family history of malignancies could be suggestive of Li-Fraumeni Syndrome (LFS) which is an inherited condition with a predisposition to the development of malignancies secondary to a mutation in the tumour suppressor gene TP53. This mutation make individuals susceptible to develop multiple malignancies like bone sarcoma, breast cancer, brain tumour, adrenocortical carcinoma and acute leukaemia. Li-Fraumeni Syndrome (LFS) is a rare condition in which affected Individuals have a lifetime cancer risk that approaches 100% by age 70 years. In her case, genetic testing confirmed diagnosis of Li-Freemen Syndrome (LFS).Patient had chemotherapy for her breast cancer alongside her treatment for AML. She underwent Right sided adrenalectomy and histology confirmed adrenocortical carcinoma with high mitotic index.Few days after Surgery patient was re-admitted with severe neutropenic sepsis and multi organ failure and despite critical care interventions including organ support, unfortunately she died.
18 - 21 May 2019
European Society of Endocrinology