SFEBES2019 POSTER PRESENTATIONS Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer (36 abstracts)
Carneys triad; a diagnosis based on the presence of three associated neoplasms; epithelioid leiomyosarcoma, pulmonary chondroma, and extra-adrenal paraganglioma remains a rare diagnosis. Here we report a 52-year-old female investigated for chronic cough. Initial chest X-ray demonstrated calcified masses, and CT thorax confirmed a left pulmonary lesion measuring 41 mm in diameter with 3 adjacent smaller nodules up to 20 mm. A chondroid pattern of calcification, consistent with pulmonay chrondoma, was noted. Completion imaging identified multiple abnormalities including multiple indeterminate liver lesions, up to 8 mm in diameter, an 11 mm nodule arose from the mid oeosophagus, a 24 mm soft tissue mass involving the bladder (the most common site for epithelioid leimyosarcoma), a 22 mm left ovarian cyst, and a 10 mm left adrenal nodule. Biochemical investigations including renal profile, liver profile, bone profile, plasma metanephrines, and spot urinary 5-HIAA were unremarkable. Cystoscopy failed to identify a bladder mass, and thus biopsy of the suspected lesion has not been feasible to date. Gastroscopy, and subsequent endoscopic ultrasound, demonstrated several oesophageal submucosal lesions, histologically consistent with leiomyoma. MRI liver demonstrated several small haemangiomata and areas of focal nodular hyperplasia. Interval CT chest and MRI pelvis demonstrated stability in the pulmonary chondroma and bladder lesion. In the context of multiple primary tumours, genetic analysis was undertaken revealing a germline mutation of SDHA. SDHA mutations are becoming increasingly recognised as a cause of familial phaeochromocytoma/paraganglioma syndromes, in addition to other related tumours. SDHA mutation has been reported to result in Carneys triad. In the context of pulmonary chondroma, suspected bladder leimyosarcoma, and germline SDHA mutation, we thus conclude that this patient is at high risk for completing Carneys triad and thus requires further diagnostics and close longitudinal follow-up.
11 Nov 2019 - 13 Nov 2019