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International Birth Defects Information Systems
Medullary Thyroid Carcinoma Sipple

International Birth Defects Information Systems

Medullary Thyroid Carcinoma Sipple
Multiple Endocrine Neoplasia(MEN)

Topics: | Medullary Thyroid Carcinoma Sipple | Multiple Endocrine Neoplasia(MEN) | C Cell Carcinoma | Corney Complex | Ellison Zollinger | Familial MTC | FMEN 1 | FMEN 2A | FMEN 2B | FMTC | MEN | MEN 1 | MEN-1 | MEN 2A | MEN 2B | MENI | MEN Type 1 | Medullary Thyroid Carcinoma | Mixed Multiple Endocrine Neoplasia | MTC | Multiple Endocrine Adenomatosis | Multiple Endocrine Neoplasia | Neoplasia Endocrinienne Multiple | Pheochromocytoma Familial | RET Mutation | Sipple | Von Hippel Lindau | WERMER | Zollinger Ellison |

Related Topics : | Thyroid Cancer | Canceres poco comunes de la niñez |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Finnish | French | Spanish |

Notes per Visitors  
... can present with a wide variety of symptoms ... hemangioblastomas ... in the central nervous system ... also occur in adrenal glands, kidneys, or pancreas ... cyst or tumor can develop around the abnormal vessels ... symptoms can include headache, dizziness, difficulty with balance, weakness in arms or legs, high blood pressure, and problems with eye sight ... symptoms depend on the location of the growth ...

Multiple Endocrine Neoplasia Type 1 Clinical and Genetic Topics (Review)
Stephen Marx, MD et al, NIH Conference, Annals of Internal Medicine, 1998
Visitor Comments [for Professionals mainly]
Multiple endocrine neoplasia type 1 (MEN1) consists of benign, and sometimes malignant, tumors (often multiple in a tissue) of the parathyroids, enteropancreatic neuroendocrine system, anterior pituitary, and other tissues. Skin angiofibromas and skin collagenomas are common ... parathyroid adenomas, gastrinomas, insulinomas, and bronchial carcinoids ...

Multiple Endocrine Neoplasia Type 2
Georgia L Wiesner, MD; et al; Gene Reviews, March 7, 2005
Visitor Comments [for Professionals mainly]
classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma) and MEN 2B. All three subtypes have a high risk for development of medullary carcinoma of the thyroid (MTC) ... The diagnosis of all three of the MEN 2 subtypes relies upon a combination of clinical findings, family history and molecular genetic testing of the RET gene (chromosomal locus 10q11) ... Familial medullary thyroid carcinoma (FMTC) is diagnosed in families with four cases of MTC in the absence of pheochromocytoma or parathyroid adenoma/hyperplasia [Eng et al 1996] ... Approximately 85% of families with FMTC have an identifiable RET mutation [Mulligan et al 1994, Mulligan et al 1995]. These mutations occur at one of the five cysteine residues (codons 609, 611, 618, 620, and 634) with mutations of codons 618, 620, and 634 each accounting for 25 to 35% of mutations ... Mutations involving the cysteine codons 609, 618, and 620 are associated with MEN 2A, FMTC, and HSCR1. Mutations in these codons are detected in about 10% of families with MEN 2A and 2/3 of families with FMTC ...

A Nationwide Clinical Survey of Patients with Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma in Japan
Masatoshi Iihara, et al; Japanese Journal of Clinical Oncology 1997
Visitor Comments [for Professionals mainly]
MEN (multiple endocrine neoplasia) type 2 syndrome is an inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and/or developmental anomalies. Germ-line mutations of the RET proto-oncogene have recently been identified as the underlying cause of the syndrome. Accordingly, several investigators have advocated prophylactic total thyroidectomy for medullary thyroid carcinoma at an early age in MEN 2 gene carriers identified by DNA analysis ... obtaining data for 230 patients diagnosed as having MEN 2 ... 84 males and 146 females, with a median age of 37.5 years (range 5-83). Patients were categorized as 179 with MEN 2A, 17 with MEN 2B, 12 with familial medullary thyroid carcinoma and 22 'other'. Medullary thyroid carcinoma, pheochromocytoma and parathyroid lesions occurred in 224 (97%) ...

Victor A. McKusick, OMIM, Johns Hopkins University, January 31, 2008
Visitor Comments [for Professionals mainly]
Clinical Synopsis
Autosomal dominant ... Hirschsprung disease ... Cutaneous lichen amyloidosis ... Cushing syndrome Hypertension; C-cell hyperplasia; Hyperparathyroidism ... Pheochromocytoma; Medullary thyroid ... Parathyroid adenoma ... Increased urinary epinephrine; Elevated calcitonin; Pentagastrin stimulation ... Caused by mutations in the RET protoncogene ...

Victor A. McKusick, OMIM, Johns Hopkins University, May 9, 2007
Visitor Comments [for Professionals mainly]
Locus: 10q11.2
Autosomal dominant ... Marfanoid body habitus beta ... Failure to thrive in infancy ... Coarse-appearing facies ... Pedunculated nodules on eyelid margins; Eyelid and corneal neuromas; Medullated corneal nerve fibers; Thickened, anteverted eyelid; Neuromas of lips and tongue; Thick lips; High arched palate; Nodular goiter ... Pectus ... Megacolon ... Colonic diverticulosis ... Ganglioneuroma ... Scoliosis; Kyphosis; Lordosis ... Joint laxity ... [Feet] ... Flushing attacks ... Myopathy ... Developmental delay ... Parathyroid hyperplasia ... Ganglioneuroma; Pheochromocytoma; Medullary thyroid carcinoma; Parathyroid disease rare ...

Victor A. McKusick, OMIM, Johns Hopkins University, November 8, 2007
Visitor Comments [for Professionals mainly]
Locus: 1P
Adrenal medullary tumor ... Cafe-au-lait spots; Hemangiomata ... Hypertensive retinopathy; Retinal angiomatosis; Congenital cataracts ... Renal artery stenosis ... Familial pheochromocytoma usually bilateral; Hypercalcemia ...

Victor A. McKusick, OMIM, Johns Hopkins University, March 19, 2008
Visitor Comments [for Professionals mainly]
Gene Map Locus: 11q13
An autosomal dominant disorder characterized by a high frequency of peptic ulcer disease and primary endocrine abnormalities involving the pituitary, parathyroid, and pancreas. For a review of multiple endocrine neoplasia, see Thakker (1998) ... Hypoglycemia was the presenting manifestation ... islet cell adenomas ... bronchial carcinoma ... perparathyroidism ... parathyroid adenomas ... pituitary adenoma ... duodenal carcinoid ... Bronchial carcinoid ... Bilateral pheochromocytomas occur in MEN2 and MEN3 and pancreatic islet cell tumor in MEN1 ... prolactin-secreting pituitary adenomas ... The Zollinger-Ellison syndrome may present purely as hyperparathyroidism ... The Zollinger-Ellison syndrome is merely hypergastrinism and may have causes other than MEA I ... Cushing syndrome is more common in patients with the Zollinger-Ellison syndrome ... occurring in 8% of all cases ... lesions in 31 MEN I patients. In 12 (37%), they found adrenal enlargement, which was bilateral in 7 ... Pancreatic endocrine tumors were significantly overrepresented in the patients with adrenal lesions ...

Multiple Endocrine Neoplasia Type 1 (MEN1) Region at 11q13
Siradanahalli C. Guru, et al, Laboratory of Gene Transfer, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, Genomics 42, 436-445, 1997
Visitor Comments [for Professionals mainly]
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder that results in parathyroid, anterior pituitary, and pancreatic and duodenal endocrine tumors in affected individuals. The MEN1 locus is tightly linked to the marker PYGM on chromosome 11q13 ...

VHL Family Alliance
June 5, 2007

Thyroid Cancer, Medullary Cancer, 2005
Medullary Thyroid Cancer ... of the thyroid originates from the parafollicular cells (also called C cells) of the thyroid. These C cells make a different hormone called calcitonin (thus their name) which has nothing to do with the control of metabolism the way thyroid hormone does ... Characteristics of Medullary Thyroid Cancer ... can be associated with other endocrine ... Regional metastases (spread to neck lymph nodes) occurs early in the course of the disease; Spread to distant organs (metastasis) occurs late and can be to the liver ... Not associated with radiation exposure ... Usually originates in the upper central lobe of the thyroid ...

Thyroid Glossary of Terms
Thyroid Cancer Survivors' Association, Inc., October 23, 2006
Since this Glossary is for Thyroid Cancer Group patients, perhaps the first step is the identification of the four different types of thyroid cancer: papillary, follicular (most common, mixed papillary-follicular), medullary (solid, with amyloid struma), and anaplastic (rare) ...

Familial Multiple Endocrine Neoplasia Type I
Cleveland Clinic
An inherited disorder that affects the endocrine glands. It is sometimes called familial multiple endocrine adenomatosis or Wermer's syndrome ... In FMEN1, all four parathyroid glands tend to be overactive ... About one in three patients with FMEN1 has gastrin-releasing tumors, called gastrinomas ... The pituitary gland becomes overactive in about one of four persons with FMEN1 ... Occasionally, a person who has FMEN1 develops islet tumors of the pancreas that secrete high levels of pancreatic hormones other than gastrin. Insulinomas, for example, produce too much insulin ... Other rare complications arise from pituitary tumors that release high amounts of ACTH ... The MEN1 gene was very recently identified. As of 1998, a small number of centers around the world have begun to offer MEN1 gene testing on a research basis ... A man or a woman with FMEN1 has a 50-50 risk with each pregnancy of having a child with FMEN1 ... the severity of the disorder varies widely from one family member to another. In particular, a parent's experience with FMEN1 cannot be used to predict the severity of FMEN1 in a child ... FMEN1 is a problem that does not usually develop until adulthood ... Prolactin-releasing tumors in a man or woman with FMEN1 may inhibit fertility ...

Multiple Endocrine Neoplasia from Pediatrics/Endocrinology
Robert J Ferry, Jr, MD, et al; eMedicine Journal , VOLUME 7, Number 7, July 27 2006
Multiple endocrine neoplasia (MEN) syndromes are categorized into MEN type 1 and MEN type 2 ... MEN 1 is associated with tumors of the parathyroid, pancreatic islet, and pituitary hyperplasia or neoplasia. Hyperparathyroidism (80% occurrence) is the most common manifestation of MEN 1 ... MEN 1 is associated with tumors of the parathyroid, pancreatic islet, and pituitary hyperplasia or neoplasia. Hyperparathyroidism (80% occurrence) is the most common manifestation of MEN 1 ... MEN 2A (Sipple syndrome); Thyroid C cells most frequently are involved, leading to bilateral medullary carcinoma of the thyroid (MCT)in almost all patients ... Pheochromocytoma (70% are bilateral) occurs in one third of patients ... MEN 2B represents 5% of all MEN 2 cases. All patients have some aspect of a distinctive marfanoid phenotype .... Carney complex; Carney complex is a distinct type of MEN that is characterized by additional features of recurrent cardiac and skin myxomas and lentigines ...

National Institute of Health
Multiple Endocrine Neoplasia (MEN) is a group of rare diseases caused by genetic defects that lead to hyperplasia (abnormal multiplication or increase in the number of normal cells in normal arrangement in a tissue) and hyperfunction (excessive functioning) of 2 or more components of the endocrine system ...

Multiple Endocrine Neoplasia (MEN) II
Marcia S. Brose, M.D., Ph.D., Iowa Clinic, November 9, 2004
overgrowth of normal cells (hyperplasia) or of malignant cells (carcinoma): the thyroid, the adrenal medulla, or the parathyroid ... The incidence is 3 out of 100,000 people.

Multippeli endokriininen neoplasia syndrooma
Visitor Comments [for Professionals mainly] [Finnish]
Multippeli endokriininen neoplasia tyyppi 1 (MEN 1) ... Synonyymeja: multippeli endokriininen adenooma, multippeli endokriininen adenomatoosi, multippeli endokriininen adenopatia, pluriglandulaarinen syndrooma, endokriininen adenooma-mahahaava syndrooma ja Wermerin syndrooma ...

L'identification du gene de la neoplasie endocrinienne multiple de type 1 (NEM 1) : consequences sur la prise en charge des tumeurs neuro-endocrines du pancreas
Alain Calender, et al, Hepato-Gastro. Vol. 5, Numero 2, Mars - Avril 1998 : 83-5, Editorial
Visitor Comments [for Professionals mainly] [French]
La neoplasie endocrinienne multiple de type 1 (NEM 1 ou syndrome de Wermer) represente la forme principale de predisposition hereditaire aux tumeurs du pancreas endocrine et des tissus neuro-endocrines diffus a localisation thymique et bronchique ... des tumeurs cortico-surrenaliennes, des carcinoides fundiques dans le syndrome de Zollinger-Ellison (SZE) et des atteintes non endocrines plus rares

Canceres poco comunes de la ñinez
National Cancer Institute, May 5, 2008
Visitor Comments [Spanish]
Este informativo sumario sobre el tratamiento de los ninos con canceres poco comunes ofrece un cuadro panoramico del diagnostico, el tratamiento, el pronostico y la clasificacion de estas enfermedades. El National Cancer Institute (Instituto Nacional del Cancer, NCI por sus siglas en ingles) creo la base de datos PDQ para aumentar la informacion sobre tratamientos nuevos que esta a la disposicion del publico y fomentar su uso en el tratamiento de los pacientes ... Carcinoma nasofaringeo ... Tumores de la tiroides ... El cancer de la tiroides podria estar asociado con el desarrollo de otros tipos de tumores malignos, como los sindromes de neoplasia endocrina multiple (MEN por sus siglas en ingles) ... Canceres orales ... Cancer de las glandulas salivales ... Carcinoma laringeo ... Canceres toracicos ... Cancer de la mama ... Adenomas y carcinoides bronquiales ... Blastoma pleuropulmonar ... Tumores esofagicos ... Timomas ... Tumores del corazon ... Mesotelioma ... Canceres abdominales ... Carcinoma de la suprarrenal ... Carcinoma de celulas renales ... Carcinoma del estomago ... Cancer del pancreas ... Carcinoma colorrectal ... Tumores carcinoides ... Tumores genitales y urinarios ... Carcinoma de la vejiga ... Cancer ovarico ... Otros canceres poco comunes de la ninez ... Sindrome de neoplasia endocrina multiple; Estos sindromes son trastornos familiares que se caracterizan por transformaciones neoplasicas en mas de un organo endocrino ... El sindrome de MEN-1, tambien llamado sindrome de Werner, [97] puede involucrar tumores de la glandula pituitaria, la paratiroides y estructuras suprarrenales, gastricas y pancreaticas, que pueden secretar hormonas como insulina. El gen para este sindrome esta situado en el cromosoma 11q13. El sindrome MEN-2a (Sindrome de Sipple) se asocia con el carcinoma medular de la tiroides, la hiperplasia de la paratiroides, adenomas y feocromocitoma. El sindrome de MEN-2b se asocia con carcinoma medular de la tiroides, hiperplasia de las paratiroides, adenomas, feocromocitoma, neuromas mucosos y ganglioneuromas ... El complejo de Carney comprende la asociacion de la enfermedad corticosuprarrenal ganglionar pigmentada primaria con el nevo azul de la piel y la mucosa, y una variedad de otros tumores endocrinos y no endocrinos ... Cancer de la piel (melanoma, carcinoma de celulas basales y de celulas escamosas) ...


Last Updated: 2008/06/12


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