PMID- 17392605
OWN - NLM
STAT- MEDLINE
DCOM- 20070509
LR  - 20220408
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 30
IP  - 2
DP  - 2007 Feb
TI  - Parathyroid carcinoma in multiple endocrine neoplasia type 1 (MEN1) syndrome: two 
      case reports of an unrecognised entity.
PG  - 145-9
AB  - CONTEXT: Primary hyperparathyroidism occurs in almost all patients with the 
      syndrome of multiple endocrine neoplasia type 1 (MEN1), but the association of 
      MEN1 with parathyroid carcinoma has only been described previously in a single 
      patient. In this report, we describe two further cases of parathyroid carcinoma 
      presenting in MEN1 syndrome. CASE REPORTS: The first patient was a 69-yr-old 
      woman, who presented with severe primary hyperparathyroidism and tracheal 
      compression by a large mediastinal mass, which was shown histologically to be a 
      parathyroid carcinoma with a second similar lesion in the neck. She was treated 
      with total parathyroidectomy followed by resection of the mediastinal mass with 
      resolution of the hypercalemia. Remarkably, she also reported primary amenorrhea 
      and was found to have an invasive pituitary lactotroph adenoma, which was treated 
      with cabergoline and external beam radiotherapy. Magnetic resonance imaging (MRI) 
      of the pancreas revealed a small lesion characteristic of an islet-cell tumor, 
      which was clinically and biochemically non-functioning. The second patient was a 
      32-yr-old man who presented with symptomatic hypercalemia and markedly raised 
      serum PTH concentration. Neck exploration revealed two parathyroid glands only. 
      One of the parathyroid glands contained a tumor with fibrous banding, atypical 
      mitoses, extra-capsular extension and moderate Ki 67 staining; features which are 
      highly suggestive of carcinoma. He also had intractable dyspepsia associated with 
      raised serum gastrin concentration. A lesion was localized to the neck of the 
      pancreas by endocopic ultrasound, and a selective arterial calcium stimulation 
      catheter suggested the presence of both a gastrinoma and an insulinoma, although 
      he had no hypoglycemic symptoms. Pituitary MRI was normal. The patient's mother 
      had primary hyperparathyroidism. CONCLUSIONS: This case report describes two 
      further patients in whom parathyroid carcinomas occurred in the context of MEN1, 
      which gives a new insight to the possible presenting phenotype of this condition. 
      Both patients had negative genetic screening for classic MEN1 gene mutation, 
      which may suggest that one or more novel occult mutations may be responsible for 
      this aggressive phenotype.
FAU - Agha, A
AU  - Agha A
AD  - Departments of Endocrinology, St. Bartholomew's Hospital, William Harvey Research 
      Institute, Queen Mary University of London, London, UK. amaragha@yahoo.com
FAU - Carpenter, R
AU  - Carpenter R
FAU - Bhattacharya, S
AU  - Bhattacharya S
FAU - Edmonson, S J
AU  - Edmonson SJ
FAU - Carlsen, E
AU  - Carlsen E
FAU - Monson, J P
AU  - Monson JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
SB  - IM
MH  - Adult
MH  - Aged
MH  - Carcinoma/*diagnosis/pathology
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/pathology
MH  - Parathyroid Neoplasms/*diagnosis/pathology
MH  - Syndrome
EDAT- 2007/03/30 09:00
MHDA- 2007/05/10 09:00
CRDT- 2007/03/30 09:00
PHST- 2007/03/30 09:00 [pubmed]
PHST- 2007/05/10 09:00 [medline]
PHST- 2007/03/30 09:00 [entrez]
AID - 3480 [pii]
AID - 10.1007/BF03347413 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2007 Feb;30(2):145-9. doi: 10.1007/BF03347413.