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Familial Cancer

, Volume 13, Issue 2, pp 267–272 | Cite as

Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation

  • Shirin Hasani-Ranjbar
  • Masoud Rahmanian
  • Azadeh Ebrahim-Habibi
  • Akbar Soltani
  • Akbar Soltanzade
  • Elnaz Mahrampour
  • Mahsa M. Amoli
Original Article

Abstract

Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant syndrome. Although thymic carcinoid tumor is recognized as a part of MEN1 syndrome but functioning thymic carcinoid tumor as the first presentation of the MEN1 seems to be very rare. In this report, we present a 29-year-old male who developed ectopic Cushing syndrome secondary to thymic carcinoid tumor and was diagnosed as MEN1 syndrome 2 years later. Further evaluation revealed the presence of carcinoid tumor and other MEN 1 manifestations in several other member of family. Genetic evaluation showed presence of a previously reported mutation in exon 10(R527X) of MEN1 gene in these patients. This presentation showed that thymic neuroendocrine tumor could be the first manifestation of the MEN1 syndrome and it might be diagnosed as a dominant manifestation of this syndrome in a family. We suggest biochemical or genetic screening for MEN-1 syndrome for patients with thymic carcinoid.

Keywords

Ectopic Cushing Neuroendocrine tumor MEN1 syndrome Hyperparathyroidism Pituitary adenoma MEN1 gene mutation 

Notes

Acknowledgments

We appreciate Mrs. Parvin Amiri for her cooperation in this study. This study is funded by Endocrinology and Metabolism Research Institute (EMRI).

Conflict of interest

There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Shirin Hasani-Ranjbar
    • 1
    • 2
  • Masoud Rahmanian
    • 2
  • Azadeh Ebrahim-Habibi
    • 2
  • Akbar Soltani
    • 2
  • Akbar Soltanzade
    • 3
  • Elnaz Mahrampour
    • 4
  • Mahsa M. Amoli
    • 2
    • 4
  1. 1.Obesity and Eating Habits Research Center, Endocrinology and Metabolism Cellular and Molecular Science Institute, Endocrinology and Metabolism Research InstituteTehran University of Medical SciencesTehranIran
  2. 2.Endocrinology and Metabolism Research Center (EMRC), Endocrinology and Metabolism Research Institute, Dr Shariati HospitalTehran University of Medical SciencesTehranIran
  3. 3.Department of NeurologyTehran University of Medical ScienceTehranIran
  4. 4.Endocrinology and Metabolism Research Center (EMRC), Endocrinology and Metabolism Clinical Sciences InstituteTehran University of Medical SciencesTehranIran

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