MON-322 Unveiling Carney Complex: A Rare Genetic Disorder

Abstract Disclosure: H.M. Dave: None. H. Dave: None. O. Abdulhussein: None. B. Agrawal: None. K. Doshi: None. R. Correa: None. Carney complex (CNC) is a rare autosomal dominant disorder or as de novo mutation and is characterized by pigmented lesions of skin, mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The incidence of CNC is around 750 patients world-wide. We present a case of young female with CNC, discuss endocrine neoplasms associated and management of patients with this rare syndrome. A 30-year female with family history for early breast cancer in paternal aunt and grandmother was evaluated by Gynecology for breast cancer risk assessment and was found to have heterozygous pathogenic variant in PRKAR1A gene which was concerning for CNC. Echocardiogram showed left atrial mass and underwent resection and biopsy consistent with myxoma. She did report history of blue nevi which had been removed in past. Her parents tested negative for the mutation. The diagnosis was consistent with Carney Complex and she was referred to Endocrinology for further workup. The pituitary function panel was checked which showed normal pituitary function. Serum cortisol was mildly elevated to 22.3 μg/dL (4.8-19.5). Further workup included 24-hour urinary cortisol levels and salivary cortisol which were normal. MRI of spine and thyroid ultrasound were also done to rule out other tumors associated with CNC. CNC is caused by inactivating mutation PRKAR1A gene located at 17q22-24 which codes for regulatory subunit type 1 alpha of protein kinase (PKA) gene and has vast clinical spectrum. Diagnosis can be made based on major and supplemental criteria; major criteria include pigmented skin and mucosal lesions, cardiac myxomas, pituitary lesions, thyroid carcinoma, adrenocortical tumors, psammomatous melanotic schwannomas (PMS), breast adenomas, large cell calcifying Sertoli cell tumors (LCCSCT). Supplemental criteria include affected first degree relative or inactivating mutation of PRKAR1A or activating mutation of PRKACA or PRKACB. Treatment involves a multi-disciplinary approach. Surgical removal of cardiac myxomas is recommended. For patients with growth hormone producing pituitary adenomas medical management with somatostatin analogues or surgical resection can be considered. PPNAD (Primary Pigmented Nodular Adrenal Dysplasia) is the most common endocrine neoplasm in CNC and bilateral adrenalectomy is recommended. FNA of thyroid is considered for suspicious nodules and management is based on histologic subtype. For males with LCCSCT surgery in addition to aromatase. PMS is difficult to treat since most cases are inoperable due to proximity to nerve roots and patients eventually develop metastatic PMS. Surveillance involves biannual echocardiogram for patients with excised myxoma, annual evaluation for cutaneous myxomas, adrenocortical tumors, PMS, ovarian and testicular neoplasm. Patients must be advised regarding the risk of inheritance if planning for pregnancy. Presentation: Monday, July 14, 2025