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PubMed1998

MEN1 gene mutations in 12 MEN1 families and their associated tumors.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome characterized by the development of multiple endocrine tumors. The gene responsible for the disease, termed MEN1 gene. has recently been isolated and germline mutations have been described in affected MEN1 individuals. Twelve unrelated (German MEN1 families and their associated tumors (5 parathyroid tumors, 1 vipoma, 1 gastrinoma, 1 insulinoma) were characterized for MEN1 gene mutations by single-strand conformational variant (SSCV) analysis and DNA sequence analysis as well as for loss of heterozygosity on chromosome 11q13. We identified nine different heterozygous germline mutations (6 frameshift, 2 missense, 1 nonsense), eight of them were novel. Four of five informative MEN1-associated tumors revealed deletion of the second MEN1 allele, supporting the concept of a tumor suppressor gene. Furthermore. SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members.

Adenoma↗
PubMed1976

Hypercalcemia in patients with known malignent disease.

In 82 patients, a preoperative diagnosis of primary hyperparathyroidism has been established by means of transfemoral neck vein catheterization and measurement of serum immunoreactive parathyroid hormone (iPTH). Twenty-five of these patients have had cancer in other parts of the body but with no evidence of recurrence or metastasis. One patient had carcinoma of the colon with metastases, and four were members of families with multiple endocrine adenomatosis (MEA, Types I and II). In six other hypercalcemic patients, high levels of iPTH were found also in the effluent blood from cancer sites other than the parathyroid gland, secondary to ectopic hormone production or pseudohyperparathyroidism. In addition, a high serum level of iPTH was found in the superior vena cava of a seventh patient who had carcinoma of the breast but no clinical or radiological signs of recurrence or metastasis with the exception of an enlarged liver. This iPTH finding was interpreted as being, probably, the result of parathyroid adenoma in either the neck or the mediastinum. At the time of operation, a transcervical mediastinal search was made. Four normal cervical parathyroid glands were found; three were removed. Hypercalcemia persisted after operation, and the patient died. At postmortem examination, microscopic study revealed that the disease had metastasized to lungs and hilar lymph nodes. There was massive metastasis in the liver; the liver contained a large amount of iPTH. The results of these investigations suggest that (1) venous catheterization of the neck veins and the effluent blood from extraparathyroid tumors aid in identifying and localizing iPTH production; (2) primary benign hyperparathyroidism is not uncommon in patients with cancer, and its co-existence must be recognized; (3) high serum iPTH level in the superior vena cava may be found in patients with metastatic or primary cancer of the thoracic cavity; and (4) hyperparathyroidism may be the first hint of a familial multiple endocrine syndrome.

Adenoma↗
PubMed1999

Expression of somatostatin receptors in peritumoral veins of human tumors.

BACKGROUND: The vascular system of the tumor bed plays an important function in tumor growth regulation. Recent studies have suggested that the vasoactive peptides somatostatin and substance P may have a potential role in the tumor bed of selected tumors. METHODS: In the current study, somatostatin receptors were evaluated with in vitro receptor autoradiography using 125I-[Tyr3]-octreotide in the peritumoral vessels of a large group of 215 primary human tumors and 25 metastases of various tumor origin, with particular emphasis on receptor incidence, distribution, homogeneity, and density. RESULTS: High affinity somatostatin receptors were found in the peritumoral veins of 22 of 22 gastric carcinomas, 25 of 39 breast carcinomas, 15 of 20 renal cell carcinomas, 14 of 27 prostate carcinomas, 4 of 10 endometrial carcinomas, 4 of 11 pancreatic adenocarcinomas, 4 of 13 nonsmall cell lung carcinomas, as well as in 3 of 4 parathyroid adenomas, 3 of 3 medullary thyroid carcinomas, 3 of 23 gastroenteropancreatic tumors, 14 of 25 soft tissue tumors, 3 of 5 melanomas but in none (0 of 13) of the ovarian carcinomas studied. In addition, somatostatin receptors were identified in veins surrounding lymph node, bone, and lung metastases of various tumor types. In all investigated tissues, receptors could not be identified in arteries. There was a considerable variability in the relative number of veins expressing somatostatin receptors and in the receptor density levels. Evidence of an overexpression of somatostatin receptors could be established in the peritumoral veins of gastric carcinoma when compared with the receptor expression in normal gastric vessels. CONCLUSIONS: The expression of somatostatin receptors in peritumoral veins appears to be a general, tumor-related, but highly variable phenomenon. Although their pathophysiologic role is unclear, these receptors may be considered as novel targets for cancer diagnosis and therapy with somatostatin analogs.

Adenoma↗
PubMed2006

The need for intraoperative parathyroid hormone monitoring during radioguided parathyroidectomy by video-assisted thoracoscopy (VATS).

PURPOSE: We report on a patient with primary hyperparathyroidism (1HPT) who had a preoperative Tc-99m sestamibi scan localizing a single parathyroid adenoma in the mediastinum. METHODS: On removal of this hyperfunctioning adenoma by radioguided video-assisted thoracoscopic surgery (VATS), intraoperative PTH levels failed to decline in the appropriate manner consistent with curative resection. This prompted the surgical team to investigate further for a second adenoma, which revealed a 2 x 1-cm mass near the inferior border of the thyroid gland on the right lateral aspect of the trachea. RESULTS: In the absence of intraoperative PTH monitoring, the operation would have been terminated after the removal of the mediastinal adenoma, leading to an incomplete surgical resection and persistent 1HPT. CONCLUSION: In our patient, curative resection was obtained and a second operation was avoided because of the use of intraoperative PTH monitoring. This case also emphasizes that although VATS was planned, in treating patients with 1HPT, one must also be prepared to perform a neck exploration.

Aged↗
PubMed2001

[Pathology of important diseases of endocrine organs (excluding the thyroid)].

Basic principles of classification of tumors of the pituitary, parathyroid glands, adrenals, paraganglionic system and endocrine pancreas and the differential diagnosis from non-endocrine tumors are presented. There are no uniform criteria of malignancy and common neuroendocrine immunohistological markers for unequivocal identification, as each organ has its own criteria. For pituitary tumors invasive growth is not a sign of malignancy, but only metastases. For tumors of the adrenal cortex a histopathological score has to be used for proving dignity. For pheochromocytomas, structural criteria (mitoses, angioinvasion) and immunostaining (S-100 protein, p53, Ki-67) are important. Endocrine tumors of the pancreas behave differently if they are angioinvasive or if they show more than two mitoses per 10 HPF, more than 2% Ki-67 positive nuclei or a size of more than 2 cm in diameter. They are malignant if gross local invasion or metastases are demonstrable. Clinical data have to be included in pathohistological reports. In many cases immunostaining in addition to structural analysis will be necessary.

Adrenal Gland Neoplasms↗
PubMed2002

[Multiple endocrine neoplasia type I or Werner syndrome. What is important to know about surgery of a rate disease].

Multiple endocrine neoplasia type 1 (MEN1) is a rare but misleading disease. The diagnosis is evocated when two main lesions are present (parathyroid, endocrine pancreas, pituary gland) but also when a family tree shows recurrent lesions. Other lesions must be taken into account (adrenal glands, neuroendocrine thymic or bronchic lesions, cutaneous lesions, lipomas, nervous central system tumors). Any surgical cure without knowing the MEN1 background leads to failure. Specific treatment of each lesion is reviewed. Genetic diagnosis is possible but the mutation is not found in all cases. Nevertheless, when the mutation is known in a family, a negative genetic test allows to exclude the disease. Prognosis is related to hepatic metastases and to thymic neuroendocrine tumors which are rare (2.1%) but aggressive. As a general rule, any apparently isolated endocrine lesion such hyperparathyroidism must prompt the surgeon to look for another endocrine lesion and to look for an abnormal family tree with recurent monoglandular or pluriglandular lesions.

Diagnosis, Differential↗
PubMed1996

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. To facilitate a screening programme for MEN1, we investigated 709 people (364 males and 345 females, age range 1-84 years) from 62 MEN1 families, and 36 non-familial MEN1 patients. Of those investigated, 220 (95 males and 125 females, age range 8-79 years) suffered from MEN1. Parathyroid, pancreatic and pituitary tumours occurred in 95%, 41% and 30% of the patients, respectively. Parathyroid tumours were the first manifestation of MEN1 in 87% of patients, and amongst the pituitary and pancreatic tumours, somatotrophinomas and gastrinomas were more common in patients above the age of 40 years, whilst insulinomas occurred more frequently in patients below the age of 40 years. Biochemical screening indicated that the penetrance of MEN1 by the ages of 20, 35 and 50 years was 43%, 85% and 94%, respectively, and that the development of MEN1 was confined to first-degree relatives in 91% of patients and to second-degree relatives in 9% of patients. These findings have helped to define a proposed screening programme for MEN1.

Adolescent↗
PubMed1984

Endocrine organ metastases from breast carcinoma.

Breast carcinoma frequently metastasizes to endocrine organs, a behavior which may have prognostic or therapeutic relevance. Whether endocrine organ involvement represents a trophic influence on some carcinomas or is simply a "mass effect" of tumor dissemination is uncertain. To investigate this question, the authors reviewed the clinical and pathologic features of 187 subjects with metastatic breast carcinoma, all of whom had been subjected to complete autopsy at The Johns Hopkins Hospital. Metastases to primary endocrine organs, ie, the anterior pituitary, thyroid, parathyroid, or adrenal cortex, occurred in 57%, and metastases to secondary endocrine organs, ie, the pineal, posterior pituitary, thymus, adrenal medulla, or pancreas, occurred in 62% of patients. In general, patients with endocrine organ metastases were significantly younger and had significantly greater numbers of metastases and greater overall tumor burden than those without endocrine organ metastases (all P less than 0.001). There was no correlation between endocrine organ metastases and survival, therapy, histologic type of tumor, or grade of anaplasia or desmoplasia. Metastases to primary endocrine organs were correlated with one another and with metastases in secondary endocrine organs. Metastases in secondary endocrine organs were intercorrelated and also correlated with several nonendocrine organs, chiefly the heart, liver, and gut (all P less than 0.005). These findings indicate that metastases of breast carcinoma to endocrine organs occur in a setting of widely disseminated tumor. However, the observed correlations among metastatic sites suggest that the distributions are nonrandom; these distributions may reflect fundamental properties of some breast carcinomas with respect to hormone receptors, biologic behavior, or environmental growth requirements.

Adrenal Gland Neoplasms↗
PubMed1999

Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease characterized by the development of multiple parathyroid adenomas and multiple fibro-osseous tumors of the maxilla and mandible. Some families have had affected members with involvement of the kidneys, variously reported as Wilms tumors, nephroblastomas, and hamartomas. The HPT-JT gene (HRPT2) maps to chromosome 1q25-q31. We describe further investigation of two HPT-JT families (K3304 and K3349) identified through the literature. These two expanded families and two previously reported families were investigated jointly for linkage with 21 new, closely linked markers. Multipoint linkage analysis resulted in a maximum LOD score of 7.83 (at recombination fraction 0) for markers D1S2848-D1S191. Recombination events in these families reduced the HRPT2 region to approximately 14.7 cM. In addition, two of these four study families (i.e., K3304 and K11687) share a 2.2-cM length of their (expanded) affected haplotype, indicating a possible common origin. Combining the linkage data and shared-haplotype data, we propose a 0.7-cM candidate region for HRPT2.

Adenoma↗
PubMed1971

Immunologic differentiation of primary hyperparathyroidism from hyperparathyroidism due to nonparathyroid cancer.

Serum immunoreactive parathyroid hormone (IPTH) was measured by radioimmunoassay in 54 patients with primary hyperparathyroidism and in 18 consecutive patients with ectopic hyperparathyroidism due to nonparathyroid cancer without apparent skeletal metastasis. Although serum calcium concentration was higher in the group with ectopic hyperparathyroidism, serum IPTH was lower (rank sum test, P < 0.001) and was undetectable in eight. A second anti-PTH antiserum also differentiated between IPTH in the two groups, although IPTH was undetectable in only 1 of 14 sera. When IPTH values in serial dilutions were plotted, slopes for the two patients with ectopic hyperparathyroidism who had relatively high IPTH were less (P < 0.001) than slopes for standard hyperparathyroid sera. By using differences in either IPTH rank or slope of the dilutional curve of sera, primary hyperparathyroidism could be excluded as a cause of the hypercalcemia in 16 of the 18 patients with ectopic hyperparathyroidism. The data are interpreted as indicating that PTH-like material in the serum of these patients with ectopic hyperparathyroidism is immunologically different from the PTH in the serum of patients with primary hyperparathyroidism.

Adenocarcinoma↗
PubMedDate not supplied

Sphenoid sinus brown tumor, hypercalcemia, and blindness: an unusual presentation of primary hyperparathyroidism.

This is a first report of primary hyperparathyroidism (HPT) masquerading as a destructive fibrous sphenoid sinus "Brown tumor" associated with progressive blindness and hypercalcemia. Diagnosis of a Brown tumor was delayed despite serial computerized tomography of the head and repeated transnasal and transethmoid sphenoid biopsies demonstrating diffuse fibrosis. Only detection and medical evaluation of hypercalcemia, demonstrating elevation of both serum calcium and C-terminal parathyroid hormone with an elevated chloride/phosphate ratio, prompted neck exploration, thus confirming a solitary left superior parathyroid adenoma. Postoperative normocalcemia occurred synchronously with the return of light perception and the arrest of sphenoid sinus and parasellar erosion. Although maxillary Brown tumors of secondary HPT have been reported, this is the first report of osteitis fibrosa of the sphenoid sinus. Differential diagnosis of an erosive sphenoid lesion with cranial nerve dysfunction, exclusive of inflammatory or vascular disease, should include sarcoidosis, primary and metastatic sphenoid carcinoma, fibrous dysplasia, giant cell reparative granuloma, midline lethal granuloma, chordoma, and chondrosarcoma. Furthermore, the bony destructive lesions with concomitant hypercalcemia of sarcoidosis and HPT are distinguishable by radiographic and laboratory analyses and by the Dent corticosteroid suppression test. Hypercalcemia of primary HPT is associated with elevated serum C-terminal parathormone, osteitis fibrosa, a negative Dent test, and a chloride/phosphate ratio greater than 33 in 94% of primary HPT patients. Hypercalcemia of sarcoidosis is associated with a normal or decreased C-terminal parathormone assay and a positive Dent test, as well as elevated serum immunoglobulins and erythrocyte sedimentation rate, and a positive angiotensin-converting enzyme assay.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenoma↗
PubMed2004

Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma.

No variant of multiple endocrine neoplasia type 1 (MEN1) has been reproducible among families. We examined two large kindreds with MEN1 variants, and we compared these to past reports. The two kindreds were followed up for 20-30 yr with MEN1 tumors in 30 members. Results in cases from two kindreds were that 93% showed parathyroid adenoma, 40% pituitary tumor (always prolactinoma), and 27% enteropancreatic endocrine tumor. The latter included 10% insulinoma, 7% nonfunctioning islet tumor, but only 10% gastrinoma. Compared with prior large series, this lower prevalence of gastrinoma (10% vs. 42%, P < 0.01) and higher prevalence of prolactinoma (40% vs. 22%, P < 0.01) define this variant. Many possible biases of retrospective analyses were excluded as possible explanations. Previously sequenced DNA showed no characteristic MEN1 mutation in these two kindreds and in a third, reported previously; the lack of any shared MEN1 mutation also excluded common ancestry for MEN1 among the three kindreds. The causes for differences between this variant and typical MEN1 are unknown. In conclusion, this variant shows more frequent prolactinoma and less frequent gastrinoma than typical MEN1; the variant is reproducible among kindreds. MEN1 carriers in such families should have periodic monitoring adjusted for the expected penetrance of tumors.

Adenoma↗
PubMed2006

Multiple endocrine neoplasia type 1.

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. It occurs in approximately one in 30,000 individuals. Two different forms, sporadic and familial, have been described. The sporadic form presents with two of the three principal MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours and pituitary tumours) within a single patient, while the familial form consists of a MEN1 case with at least one first degree relative showing one of the endocrine characterising tumours. Other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, lipomas, angiofibromas, collagenomas have been described. The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. This gene is probably involved in the regulation of several cell functions such as DNA replication and repair and transcriptional machinery. The combination of clinical and genetic investigations, together with the improving of molecular genetics knowledge of the syndrome, helps in the clinical management of patients. Treatment consists of surgery and/or drug therapy, often in association with radiotherapy or chemotherapy. Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions) is recommended.

Adolescent↗
PubMed1999

Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome of endocrine tumors involving the parathyroids, anterior pituitary and enteropancreatic neuroendocrine tissues, and is inherited in an autosomal dominant manner. Recently, the gene responsible for this syndrome, MEN1, was positionally cloned in 11q13. We aimed to assess the significance of MEN1 gene diagnostics in families with MEN1. DESIGN: Sixteen probands of familial MEN1 and their 40 family members were subjected to the study. METHODS: Full-length sequencing of the open reading frame and exon-intron boundaries in the MEN1 gene was performed with probands of familial MEN1. Family members were examined for the identified mutation in the proband. RESULTS: We identified heterozygous germline mutations of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the highest detectability of MEN1 mutations in familial MEN1 among studies that examined more than 10 families. Eleven kinds of the identified MEN1 germline mutations were novel. More than half were nonsense or frameshift mutations resulting in a premature stop codon (9/15; 60%), and no mutation hot spots or no apparent genotype-phenotype relationships were observed, in support of the results of other studies. We identified 40 mutant MEN1 gene carriers and 16 non-carriers in the course of the present study in those families. CONCLUSIONS: Analysis of the germline mutations in the MEN1 gene, providing significantly useful clinical information to probands and family members of MEN1, should be considered as a standard procedure and categorized as belonging to Group 1 cancer predisposition testing by the American Society of Clinical Oncology.

Adult↗
PubMed1981

Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence?

In a retrospective study of 350 cases of primary hyperparathyroidism at the University of Toronto, 5 patients had associated benign fibroosseous lesions of the facial skeleton which did not regress after successful parathyroidectomy and restoration of normocalcemia. Two of these patients were siblings and an offspring of one of these patients was recently shown to have hyperparathyroidism, suggesting that this group of patients does represent a syndrome with familial and genetic implications. At present bone disease in patients with hyperparathyroidism should be viewed with some consideration of unrelated process, and appropriate biopsy and treatment should be undertaken after its recognition.

Adenoma↗