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Palatal Soft Tissue Myxoma in a Patient with Carney Complex

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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.

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References

  1. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86:4041–6. https://doi.org/10.1210/jcem.86.9.7903.

    Article  CAS  PubMed  Google Scholar 

  2. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985;64:270–83. https://doi.org/10.1097/00005792-198507000-00007.

    Article  CAS  Google Scholar 

  3. Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, et al. Mutations in the protein kinase A R1α regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest. 2000;106:R31–8. https://doi.org/10.1172/JCI10841.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, et al. Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26:89–92. https://doi.org/10.1038/79238.

    Article  CAS  PubMed  Google Scholar 

  5. Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase ( PRKAR1A ): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009;94:2085–91. https://doi.org/10.1210/jc.2008-2333.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Espiard S, Vantyghem M-C, Assié G, Cardot-Bauters C, Raverot G, Brucker-Davis F, et al. Frequency and incidence of carney complex manifestations: a prospective multicenter study with a three-year follow-up. J Clin Endocrinol Metab. 2020;105:e436–46. https://doi.org/10.1210/clinem/dgaa002.

    Article  Google Scholar 

  7. Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol. 2015;173:M85-97. https://doi.org/10.1530/EJE-15-0209.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Cook CA, Lund BA, Carney JA. Mucocutaneous pigmented spots and oral myxomas: the oral manifestations of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Oral Surg Oral Med Oral Pathol. 1987;63:175–83. https://doi.org/10.1016/0030-4220(87)90308-2.

    Article  CAS  PubMed  Google Scholar 

  9. Reza-Albarrán AA, Gómez-Pérez FJ, López JC, Herrera M, Gamboa-Dominguez A, Keirns C, et al. Myelolipoma: a new adrenal finding in Carney’s complex? Endocr Pathol. 1999;10:251–7. https://doi.org/10.1007/BF02738887.

    Article  PubMed  Google Scholar 

  10. Naito Y, Mori J, Tazoe J, Tomida A, Yagyu S, Nakajima H, et al. Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report. Endocr J. 2019;66:1117–23. https://doi.org/10.1507/endocrj.EJ19-0183.

    Article  PubMed  Google Scholar 

  11. Takahashi H, Hida T. Carney complex: report of a Japanese case associated with cutaneous superficial angiomyxomas, labial lentigines, and a pituitary adenoma. J Dermatol. 2002;29:790–6. https://doi.org/10.1111/j.1346-8138.2002.tb00225.x.

    Article  PubMed  Google Scholar 

  12. Yoon HD, Shon HS. A typical Korean case of Carney complex. Korean J Intern Med. 2003;18:260–5. https://doi.org/10.3904/kjim.2003.18.4.260.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Hachisuka J, Ichikawa M, Moroi Y, Urabe K, Furue M. A case of Carney complex. Int J Dermatol. 2006;45:1406–7. https://doi.org/10.1111/j.1365-4632.2006.02889.x.

    Article  PubMed  Google Scholar 

  14. Kacerovska D, Sima R, Michal M, Hes O, Roucka P, Zarybnicka M, et al. Carney complex: a clinicopathologic and molecular biological study of a sporadic case, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene. J Am Acad Dermatol. 2009;61:80–7. https://doi.org/10.1016/j.jaad.2008.11.015.

    Article  CAS  PubMed  Google Scholar 

  15. Vandersteen A, Turnbull J, Jan W, Simpson J, Lucas S, Anderson D, et al. Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex. Eur J Pediatr. 2009;168:1401–4. https://doi.org/10.1007/s00431-009-0935-y.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Richey JD, Bradish JR, Lacy SR, Warren S. Carney syndrome in a patient previously considered to have Peutz-Jeghers syndrome. J Am Acad Dermatol. 2014;70:e44–6. https://doi.org/10.1016/j.jaad.2013.10.017.

    Article  PubMed  Google Scholar 

  17. Liu Q, Tong D, Liu G, Yi Y, Zhang D, Zhang J, et al. Carney complex with PRKAR1A gene mutation. Medicine (Baltimore). 2017;96:e8999. https://doi.org/10.1097/MD.0000000000008999.

    Article  CAS  Google Scholar 

  18. Takigami M, Kawata M, Kintsu M, Kodaira M, Sogabe K, Kato Y, et al. Familial Carney complex with biatrial cardiac myxoma. J Cardiol Cases. 2017;15:155–7. https://doi.org/10.1016/j.jccase.2016.12.007.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol. 1980;103:421–9. https://doi.org/10.1111/j.1365-2133.1980.tb07266.x.

    Article  CAS  PubMed  Google Scholar 

  20. Alotaiby FM, Fitzpatrick S, Upadhyaya J, Islam MN, Cohen D, Bhattacharyya I. Demographic, clinical and histopathological features of oral neural neoplasms: a retrospective study. Head Neck Pathol. 2019;13:208–14. https://doi.org/10.1007/s12105-018-0943-1.

    Article  PubMed  Google Scholar 

  21. do Nascimento GJF, de Pires Rocha DA, Galvão HC, de Lopes Costa AL, de Souza LB. A 38-year review of oral schwannomas and neurofibromas in a Brazilian population: clinical, histopathological and immunohistochemical study. Clin Oral Investig. 2011;15:329–35. https://doi.org/10.1007/s00784-010-0389-7.

    Article  PubMed  Google Scholar 

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Acknowledgement

This work was supported in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—Brasil (CAPES)—Finance Code 001, and by São Paulo Research Foundation (FAPESP)–Grant No. #2018/24715-2.

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Authors and Affiliations

  1. Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), 901, Av. Limeira, Areão, Piracicaba, São Paulo, 13414-903, Brazil

    Bruno Augusto Linhares Almeida Mariz, Elena María José Román Tager & Oslei Paes de Almeida

  2. Endocrinology Division, Surgical Oncology Department, Integra Cancer Institute, Guatemala City, Guatemala

    Carlos Cordón Fernandez

  3. Department of Pathology, Integra Cancer Institute, Guatemala City, Guatemala

    Roman Carlos

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  1. Bruno Augusto Linhares Almeida Mariz
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  2. Elena María José Román Tager
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Correspondence to Bruno Augusto Linhares Almeida Mariz.

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Mariz, B.A.L.A., Tager, E.M.J.R., Fernandez, C.C. et al. Palatal Soft Tissue Myxoma in a Patient with Carney Complex. Head and Neck Pathol 15, 1023–1030 (2021). https://doi.org/10.1007/s12105-020-01241-0

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  • DOI: https://doi.org/10.1007/s12105-020-01241-0

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