Palatal Soft Tissue Myxoma in a Patient with Carney Complex
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CASE REPORTS
Palatal Soft Tissue Myxoma in a Patient with Carney Complex Bruno Augusto Linhares Almeida Mariz1 · Elena María José Román Tager1 · Carlos Cordón Fernandez2 · Oslei Paes de Almeida1 · Roman Carlos3 Received: 6 October 2020 / Accepted: 16 October 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome. Although cutaneous myxomas commonly occur in CNC patients, intraoral myxomas are extremely rare. We present a case of a palatal myxoma in a 21-year-old female patient with CNC, along with a review of the pertinent literature. She presented with a sessile nodule on the hard palate that microscopically showed a multilobulated and highly vascularized myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells, suggestive of myxoid neurofibroma. Six years after the oral lesion was removed, she presented with a growth hormone (GH)-producing pituitary adenoma, a cardiac myxoma, two cutaneous myxomas on the lower abdomen area, and one myxoma in the vaginal mucosa. Therefore, the final diagnosis of the palatal lesion was of a soft tissue myxoma related to CNC. The patient remains on close follow-up, with no recurrences of the palatal myxoma after 7 years. Keywords Carney complex · Myxoma · Oral myxoma · Palatal myxoma · Mouth · Palate
Introduction Carney complex (CNC, OMIM 160980) is an autosomal dominant syndrome characterized by skin and mucosal pigmentations, cardiac and cutaneous myxomas, and endocrine and non-endocrine tumors [1]. This condition was first described in 1985 as, “the complex of myxomas, spotty pigmentation, and endocrine overactivity”, in patients presenting with cardiac myxomas, cutaneous alterations (pigmented lesions and/or cutaneous myxomas), and endocrine disorders [primary pigmented nodular adrenocortical disease (PPNAD), testicular tumors, and GH-producing pituitary adenoma] [2]. Most cases of CNC are caused by mutations in the protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) gene, located in the long arm of chromosome * Bruno Augusto Linhares Almeida Mariz [email protected] 1
Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), 901, Av. Limeira, Areão, Piracicaba, São Paulo 13414‑903, Brazil
2
Endocrinology Division, Surgical Oncology Department, Integra Cancer Institute, Guatemala City, Guatemala
3
Department of Pathology, Integra Cancer Institute, Guatemala City, Guatemala
17 (17q24.2), leading to uncontrolled cell proliferation in different parts of the body [3, 4]. Approximately two thirds of CNC cases are familial, and one third are sporadic [5]. Around 80% of patients with CNC carry mutations on the PRKAR1A gene [5, 6], and more rarely in chromosome 2p16 (CNC type 2), but PRKACAor PRKACB copy number gains have been also reported. However, the cause of most PRKAR1A-negative cases remains unknown [7]. Oral manifestations of CNC include spotty pigmentations on
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