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

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...

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Bibliographic Details
Published in:Familial cancer 2014-06, Vol.13 (2), p.267-272
Main Authors: Hasani-Ranjbar, Shirin, Rahmanian, Masoud, Ebrahim-Habibi, Azadeh, Soltani, Akbar, Soltanzade, Akbar, Mahrampour, Elnaz, Amoli, Mahsa M.
Format: Article
Language:English
Subjects:
ACTH Syndrome, Ectopic - etiology
Adenoma - diagnosis
Adolescent
Adult
Biomedical and Life Sciences
Biomedicine
Cancer Research
Carcinoid Tumor - genetics
Carcinoid Tumor - secondary
Carcinoid Tumor - secretion
Cushing Syndrome - etiology
Epidemiology
Female
Human Genetics
Humans
Male
Middle Aged
Multiple Endocrine Neoplasia Type 1 - diagnosis
Multiple Endocrine Neoplasia Type 1 - genetics
Mutation
Neoplasm Recurrence, Local - diagnosis
Original Article
Pedigree
Pituitary Neoplasms - diagnosis
Proto-Oncogene Proteins - genetics
Thymus Neoplasms - genetics
Thymus Neoplasms - pathology
Thymus Neoplasms - secretion
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Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-013-9692-1