Document Detail

An unusual presentation of MEN2A.
MedLine Citation:
PMID:  23749818     Owner:  NLM     Status:  In-Data-Review    
A 35-year-old woman presented with non-specific symptoms of fatigue and weight loss. Radiological investigations diagnosed a metastatic process and large bilateral adrenal masses. Histology from a liver biopsy and skin biopsy confirmed a diagnosis of metastatic medullary thyroid cancer. Further biochemical investigations revealed a positive 24-h urinary metanephrine collection and evidence of primary hyperparathyroidism. Genetic testing confirmed a mutant RET oncogene, confirming our clinical suspicion of multiple endocrine neoplasia type 2 (MEN2A) syndrome. The patient had no family history of endocrine disease and presented with widespread metastatic disease, making this an unusual presentation of MEN2A syndrome. Furthermore cutaneous metastases are rarely encountered in conjunction with metastatic medullary thyroid cancer. This case draws attention to the importance of genetic counselling in first-degree relatives of patients with confirmed MEN2A. This allows for timely diagnosis and reduced morbidity and mortality.
R Casey; M Bell; M Keane; A Smyth
Related Documents :
24516588 - Incidence and metastasis of cutaneous malignant melanoma with respect to abo blood grou...
19750988 - Meningeal carcinomatosis as the first manifestation of malignant carcinomatosis.
23369148 - Histological diagnosis of follicular lymphoma by biopsy of small intestinal normal mucosa.
5158788 - Malignant gliomas occurring in identical twins.
20082488 - A laterally-spreading tumor in a colonic interposition treated by endoscopic submucosal...
17034518 - Investigation of the corticotropin-releasing hormone-proopiomelanocortin axis in variou...
Publication Detail:
Type:  Journal Article     Date:  2013-06-06
Journal Detail:
Title:  BMJ case reports     Volume:  2013     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2013  
Date Detail:
Created Date:  2013-06-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Department of Medicine, University Hospital Galway, Galway, Ireland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Peri-implant galactocele following vacuum-assisted core biopsy of the breast: a cautionary tale.
Next Document:  Disturbance of motor development: a manifestation of stroke in early childhood.