Format

Send to

Choose Destination
Ann Endocrinol (Paris). 2015 Dec;76(6):690-4. doi: 10.1016/j.ando.2015.10.007. Epub 2015 Nov 27.

Questioning the pathogenic role of the pTyr791Phe mutation of the RET proto-oncogene: Insight from a case report.

Author information

1
Department of Endocrinology and Metabolic Diseases, La Pitié-Salpêtrière Hospital, boulevard de l'Hôpital, 75013 Paris, France; Department of Endocrinology and Diabetes, University Hospital of Geneva, Geneva, Switzerland.
2
Department of Endocrinology and Metabolic Diseases, La Pitié-Salpêtrière Hospital, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: myriam.amsallem@gmail.com.
3
Department of Endocrinology and Metabolic Diseases, La Pitié-Salpêtrière Hospital, boulevard de l'Hôpital, 75013 Paris, France.
4
Department of Nuclear Medicine, La Pitié-Salpêtrière Hospital, boulevard de l'Hôpital, 75013 Paris, France.

Abstract

The pTyr791Phe mutation of the RET proto-oncogene is associated with a low penetrance of medullar thyroid carcinoma (MTC). Thus, there is a lack in guidelines on management of these patients presenting without a thyroid disease.

CLINICAL CASE:

A 27-year-old woman presented with a history of severe hypertension, paroxysmal tachycardia, diaphoresis and headaches. Twenty-four-hour urinary norepinephrine and normetanephrine levels were exclusively up to 20 times the normal limit. CT-scan and MRI found a 35-mm diameter right adrenal tumor, highly intense in T2- and hypo-intense in T1-weighted image, enhanced after gadolinium injection. After alpha-adrenergic blocker treatment, a surgical resection of the tumor was performed; this latter proved to be a pheochromocytoma. Genetic screening only revealed a germline pTyr791Phe mutation of the RET proto-oncogene. However, the patient showed no evidence of MEN2: basal calcitonin was normal and calcium infusion test was negative. Thyroid ultrasound revealed a TIRADS 3 nodule with benign cytology. Total thyroidectomy was suggested but withheld due to the patient's refusal and a close follow-up was decided.

CONCLUSION:

This rare case of pTyr791Phe mutation-related pheochromocytoma without evidence of MTC questions the indication for prophylactic thyroidectomy in mutation carriers, as recent data challenges its pathogenicity.

KEYWORDS:

Carcinome médullaire de la thyroïde; Medullary thyroid carcinoma; Pheochromocytoma; Phéochromocytome; Proto-oncogène RET; RET proto-oncogene

PMID:
26639185
DOI:
10.1016/j.ando.2015.10.007
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Masson (France)
Loading ...
Support Center