Work

F-052synchronous Multiple Primary Lung Tumours in a Genetic Familiar Syndrome: How to Approach?

Year: 2017

Type: article

Abstract: Objectives: Primary pulmonary leiomyosarcoma is an uncommon disease, but the synchronous appearance with a lung adenocarcinoma is extremely rare. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome commonly caused by germline mutations in the TP53 gene. The combination of these variants was not published yet. Case description: A routine chest X-ray identified 4 bilateral lesions in a 40-year old woman. A 6-cm multinodal primary pulmonary leiomyosarcoma without lymph node metastasis was removed with a left upper lobectomy, and subsequently a right upper segmentectomy for a T1aN0 adenocarcinoma and a middle lobe wedge resection for an inflammatory pseudotumour were performed. No adjuvant treatment was given. Twenty months later a retroperitoneal liposarcoma was excised, but despite adjuvant chemotherapy the patient died soon after. Because of multiple early-onset malignant lesions in her family including osteosarcoma of her mother at the age of 40, TP53 was analysed in peripheral blood DNA of the patient, her daughter and son, and brother. Sequencing of the coding region and splice sites of TP53 in the patient and her son identified a heterozygous variant (722C>G, S241C). Shortly after her death, her son was diagnosed with a large (10 cm) osteosarcoma on the right anterior chest wall at the age of 17 during a biking accident and treated with resection. Despite adjuvant chemotherapy he died 2 years later. Ten malignant tumours (gastric, breast, colon and 2 lung cancers, leukaemia, leiomyosarcoma, liposarcoma and 2 osteosarcomas) were diagnosed in 8 members of the patient’s family over 4 generations with a mean age of 43.2 years (13-70) at diagnosis. Conclusions: The synchronous appearance of a primary pulmonary leiomyosarcoma and adenocarcinoma is extremely rare. Surgical resections are indicated, if possible. Genetical examination is recommended to verify a TP53 mutation and a possible Li-Fraumeni syndrome with poor outcome. Disclosure: No significant relationships.

Source: Interactive Cardiovascular and Thoracic Surgery

DOI: 10.1093/icvts/ivx280.052