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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
Joint Authors
Elisei, R.
Materazzi, Gabriele
Giani, Carlotta
Ramone, Teresa
Romei, Cristina
Ciampi, Raffaele
Tacito, Alessia
Valerio, Laura
Agate, Laura
Ugolini, Clara
Marinò, Michele
Basolo, Fulvio
Franchi, Alessandro
Borsari, Simona
Selli, Cesare
Cetani, F.
Michelucci, Angela
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-29
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Background.
Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation.
Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B.
Case Report.
A 7-year-old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH.
The neck ultrasound showed bilateral thyroid nodules, local lymph node lesions, and a suspicious left hyperplastic parathyroid.
The CT scan showed a megacolon and described the persistence of the pelvic tumor.
A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found.
She underwent total thyroidectomy, central compartment and latero-cervical lymph node dissection, and neck exploration for primary HPTH.
The histology confirmed bilateral MTC, multiple lymph node metastases, a hyperplastic parathyroid, and a parathyroid adenoma.
Conclusions.
This is the first case of a complex syndrome characterized by peculiar features of MEN2B, without Pheo but with a pelvic plexiform neurofibroma and with HPTH, which is typical of MEN2A.
A “de novo” new germline RET deletion located in exon 11 was found.
American Psychological Association (APA)
Giani, Carlotta& Ramone, Teresa& Romei, Cristina& Ciampi, Raffaele& Tacito, Alessia& Valerio, Laura…[et al.]. 2020. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
Modern Language Association (MLA)
Giani, Carlotta…[et al.]. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
American Medical Association (AMA)
Giani, Carlotta& Ramone, Teresa& Romei, Cristina& Ciampi, Raffaele& Tacito, Alessia& Valerio, Laura…[et al.]. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147007