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| Symptoms of MEN 2 |
DESCRIPTION
Multiple endocrine neoplasia type 2 (MEN2) is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant (cancer). They generally occur in endocrine organs,(e.g. thyroid, parathyroid, and adrenals), but may also occur in endocrine tissues of organs not classically thought of as endocrine.
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| Different tumours between MEN2A and MEN2B |
It is divided into three subtypes: type 2A (MEN2A) and type 2B or MEN 2B (formerly called type 3). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.
CAUSES
MEN2 is a genetic condition. This means that the cancer risk and other features of MEN2 can be passed from generation to generation in a family. The gene of chromosome 10 associated with MEN2 is called RET. A mutation (alteration) in the RET gene gives a person an increased risk of developing medullary thyroid cancer and other tumors associated with MEN2.
Normally, every cell has two copies of each gene: one inherited from the mother and one from the father. MEN2 follows an autosomal dominant inheritance pattern, in which a mutation, a change in the DNA sequence that alters the protein sequence, happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation causing MEN2 has a 50% chance of inheriting that mutation. A brother, sister of a person who has a mutation also has a 50% chance of having the same mutation. If a child inherits the mutated RET gene from an affected parent, there is almost a 100% chance of developing medullary thyroid cancer and lower probabilities of developing other features of this syndrome during his or her lifetime.
SYMPTOMS
Cèlia Güibas
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Most cases of multiple endocrine neoplasia type 2.
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Normally, every cell has two copies of each gene: one inherited from the mother and one from the father. MEN2 follows an autosomal dominant inheritance pattern, in which a mutation, a change in the DNA sequence that alters the protein sequence, happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation causing MEN2 has a 50% chance of inheriting that mutation. A brother, sister of a person who has a mutation also has a 50% chance of having the same mutation. If a child inherits the mutated RET gene from an affected parent, there is almost a 100% chance of developing medullary thyroid cancer and lower probabilities of developing other features of this syndrome during his or her lifetime.
SYMPTOMS
MEDICAL TERMS
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OTHER NAMES
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80%-99% of
people have these symptoms
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Diarrhea
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Watery stool
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Medullary thyroid carcinoma
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30%-79% of
people have these symptoms
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Abnormality of oral mucosa
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Abnormality of lining of
mouth
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Abnormality of the eyelid
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Abnormality of the eyelids
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Abnormality of the tongue
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Abnormal tongue
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DIAGNOSIS
Affected individuals may receive a diagnosis of MEN2 following a thorough clinical evaluation, a detailed patient history and the identification of characteristic features. The characteristic features of MEN2A are the presence of two or more specific endocrine tumors (i.e., medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia or adenoma). Diagnostic features of MEN2B include the identification of medullary thyroid carcinoma, multiple neuromas, distinctive facial features, and a “marfanoid” habitus.
WEBGRAFIA
Cèlia Güibas
