SFEBES2021 Poster Presentations Neuroendocrinology and Pituitary (47 abstracts)
Carney complex is a rare autosomal dominant syndrome characterized by multiple pigmented lesions on the mucosae and skin, cardiac myxoma, endocrine and non-endocrine tumours. It is caused by mutations of the PRKAR1A gene on chromosome 17q. We present a 24-year-old gentleman with Carneys complex PRKAR1A gene positive. He has a strong family history of Carney complex- He also has a sister and 3 half- brothers who were also affected. One of his half-brothers has primary adrenal failure which is not a recognised feature of Carneys. He had adrenal insufficiency followed by removal of right ventricular myxoma, acromegaly of which he wasnt keen on surgery, microlithiasis of the testes and multiple skin freckles He was admitted to hospital recently following a fall which resulted in neck pain and difficulty in mobilising. His initial CT of the cervical spine showed pathological fracture/dislocation through the base of the odontoid peg with an extensive destructive tumour centred on the right ethmoid sinus, invading the right cribriform plate with likely frontal lobe invasion as well as invasion of the extraconal right orbit. His FDG-PET CT scan showed significant tracer avidity on the right nasal/orbital region with widespread bony lesions. He had a biopsy which showed lesional cells diffusely positive for desmin, myogenin, myo D1 and vimentin consistent with alveolar rhabdomyosarcoma. He was referred to the oncology team for radiotherapy to the cervical spine and chemotherapy. He continues to be under regular follow up under the local endocrinology team and oncology team. A number of tumours and malignancies have been reported in Carneys Complex, however, to our knowledge, no cases of rhabdomyosarcoma were previously reported in this condition. While rhabdomyosarcoma is known to be associated with a number of gene mutations, PRKAR1A is not known to be one of them.
08 Nov 2021 - 10 Nov 2021