Multiple Malignancies in a Young Patient

Abstract

SESSION TITLE: Non-Small Cell Lung Cancer SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Fanconi anaemia (FA) is associated with chromosomal fragility and a high risk of cancers, including leukaemia and solid tumours. 3% of patients develop more than one cancer in their lifetime. We report a case of a 31 year old man with FA who was diagnosed concurrently with myelodysplastic syndrome and squamous cell carcinoma of the lung. CASE PRESENTATION: He presented to an acute hospital with cough and breathlessness of 1 month’s duration. A chest radiograph showed right lower lobe collapse and he also had thrombocytopenia with 2% blasts. Bone marrow aspiration showed myelodysplastic syndrome (deletion 20q). Bronchoscopy showed an endobronchial tumour obstructing the right lower lobe and an eventual diagnosis of Stage 3A squamous cell carcinoma was made. He had been healthy prior to his diagnosis of cancer with no developmental abnormalities. He was of normal height (167cm) and head circumference (53.5cm) and had no skeletal abnormalities. There were café au lait spots on his back and right neck. He worked as a delivery driver and had smoked for 5 pack years prior to his diagnosis. A review of his family history revealed significant history of malignancy. His sister had been diagnosed with skin cancer and lymphoma at the age of 35, and there was a history of lung cancer in both sides of his family. There was no history of consanguinity in his family. In view of his young age and family history, he underwent genetics testing and FA was eventually diagnosed. DISCUSSION: Squamous cell carcinomas have been described in FA, although these are more commonly of the head and neck. A review of the literature showed very few reported cases of FA with squamous cell carcinoma of the lung (1). These patients usually tolerate chemotherapy and radiotherapy poorly due to a defect in DNA damage response and prognosis is often poor (2). After extensive discussion with a multidisciplinary team, the patient was deemed not to be suitable for chemotherapy because of his myelodysplastic syndrome. He was treated with an attenuated dose of radical radiotherapy to the lung with palliative intent. This was complicated by 2 admissions for haemoptysis which were managed with bronchial artery embolization and platelet transfusions. Of date, he has tolerated 15 fractions of radiotherapy with twice a week platelet transfusions. The last staging scan showed mild reduction in the size of the endobronchial tumour. CONCLUSIONS: FA is a rare disease with an incidence of 1 in 200 000-400 000. Squamous cell carcinoma associated with FA is even rarer and there are currently no proven therapies. Reference #1: Cathart-Rake, Lopez-Chavaz. Young Male with Fanconi Anemia and EGFR-Mutant Non-Small-Cell Lung Cancer. J Thorac Oncol. 2014 Nov;9(11):e83-5 Reference #2: A.R. Venkitaraman. A growing network of cancer-susceptibility genes. N Engl J Med, 348 (19) (2003), pp. 1917-1919 DISCLOSURE: The following authors have nothing to disclose: Hui Zhong Chai, Qiao Li Tan No Product/Research Disclosure Information