Multiple endocrine neoplasia syndrome: Difference between revisions
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'''MEN = | '''MEN = Multiple Endocrine Neoplasia Syndrome''' - this includes three syndromes, the main components of which are tumors of the endocrine glands. | ||
== | == MEN 1 syndrome (Wermer syndrome) == | ||
=== | === Definition and epidemiology === | ||
[[ | [[An autosomal dominantly|An autosomal dominantly]] inherited syndrome with a prevalence of 2-20 cases per 100,000 population, characterized mainly by primary hyperparathyroidism, tumors of the endocrine part of the pancreas and tumors of the pituitary gland. | ||
=== | === Etiopathogenesis=== | ||
Defects (deletion, [[mutation]]) [[gene]]of the menin protein. This gene is a [[tumor suppressor gene|tumor suppressor gene]]. It is located on the 11th chromosome. | |||
=== | === Clinical picture === | ||
# '''[[ | # '''[[Primary hyperparathyroidism]]''' – occurs within the syndrome with a probability of 95-100% and is also the first manifestation. | ||
# ''' | # '''Tumors of the endocrine pancreas''' – can be afunctional or hormonally active - most often [[gastrinoma|gastrinoma]] (60 %) or [[insulinoma]] (20 %). | ||
# ''' | # '''Pituitary tumors''' – almost always ''' adenomas '''. They can be non-functional, in the case of activity it is almost always a [[prolactinoma]]. | ||
''' | '''MEN 1 can include''': adenomas of the adrenal glands, carcinoid, subcutaneous lipomas, angiofibromas on the face, collagenomas, ... | ||
=== | === Diagnostics=== | ||
Proof of at least two basic components of the syndrome, proof of diagnosis based on molecular biological examinations. | |||
=== | === Therapy=== | ||
It consists in the therapy of individual components. | |||
=== | === Prognosis=== | ||
Increased [[morbidity]] and [[mortality]] depend on early diagnosis and treatment of individual components. | |||
== | == MEN 2A syndrome (Sipple syndrome) == | ||
=== | === Definition and epidemiology === | ||
An autosomal dominantly inherited syndrome with a prevalence of 1–5 cases per 100,000 population. The components of the syndrome are: medullary carcinoma of the thyroid gland, pheochromocytoma, primary hyperparathyroidism. | |||
=== | === Etiopathogenesis=== | ||
Mutation of the RET [[proto-oncogene|proto-oncogene]] located on the 10th chromosome. | |||
=== | === Clinical picture === | ||
# [[ | # [[Medullary carcinoma of the thyroid gland|Medullary carcinoma of the thyroid gland]] – usually manifests first, is highly malignant. | ||
# '''Primární hyperparathyreóza''' – manifestuje se přibližně v 25 %. | # '''Primární hyperparathyreóza''' – manifestuje se přibližně v 25 %. | ||
# [[Feochromocytom|Feochromocytom]]. | # [[Feochromocytom|Feochromocytom]]. | ||
Revision as of 09:37, 20 December 2022
MEN = Multiple Endocrine Neoplasia Syndrome - this includes three syndromes, the main components of which are tumors of the endocrine glands.
MEN 1 syndrome (Wermer syndrome)
Definition and epidemiology
An autosomal dominantly inherited syndrome with a prevalence of 2-20 cases per 100,000 population, characterized mainly by primary hyperparathyroidism, tumors of the endocrine part of the pancreas and tumors of the pituitary gland.
Etiopathogenesis
Defects (deletion, mutation) geneof the menin protein. This gene is a tumor suppressor gene. It is located on the 11th chromosome.
Clinical picture
- Primary hyperparathyroidism – occurs within the syndrome with a probability of 95-100% and is also the first manifestation.
- Tumors of the endocrine pancreas – can be afunctional or hormonally active - most often gastrinoma (60 %) or insulinoma (20 %).
- Pituitary tumors – almost always adenomas . They can be non-functional, in the case of activity it is almost always a prolactinoma.
MEN 1 can include: adenomas of the adrenal glands, carcinoid, subcutaneous lipomas, angiofibromas on the face, collagenomas, ...
Diagnostics
Proof of at least two basic components of the syndrome, proof of diagnosis based on molecular biological examinations.
Therapy
It consists in the therapy of individual components.
Prognosis
Increased morbidity and mortality depend on early diagnosis and treatment of individual components.
MEN 2A syndrome (Sipple syndrome)
Definition and epidemiology
An autosomal dominantly inherited syndrome with a prevalence of 1–5 cases per 100,000 population. The components of the syndrome are: medullary carcinoma of the thyroid gland, pheochromocytoma, primary hyperparathyroidism.
Etiopathogenesis
Mutation of the RET proto-oncogene located on the 10th chromosome.
Clinical picture
- Medullary carcinoma of the thyroid gland – usually manifests first, is highly malignant.
- Primární hyperparathyreóza – manifestuje se přibližně v 25 %.
- Feochromocytom.
Diferenciální diagnostika
Odlišení od jiných nádorových syndromů. Diagnózu potvrdíme průkazem mutace RET protoonkogenu.
Terapie
Spočívá v terapii jednotlivých složek. Důležitá je dispenzarizace a potomkům je indikována preventivní totální thyreoidektemie.
Prognóza
MEN 2A je závažný syndrom se zvýšenou morbiditou a mortalitou. Důležitá je časná diagnostika, terapie jednotlivých složek a také to, jaké složky syndromu se manifestují.
Syndrom MEN 2B
Definice a epidemiologie
Autozomálně dominantně dědičný syndrom s prevalencí 1–3 případy na 100 000 obyvatel. Složkami syndromu jsou: medulární karcinom štítné žlázy, feochromocytom, slizniční neuromy.
Etiopatogeneze
Mutace RET protoonkogenu lokalizovaného na 10. chormozomu.
Klinický obraz
- Medulární karcinom štítné žlázy – přítomný v 100 % případů.
- Feochromocytom – přítomní v 50 % případů, často bilaterálně.
- Slizniční neuromy – v 100 % prřípadů, marfanoidní habitus (70 %) a střevní ganglioneuromy.
Diagnostika
Průkaz jednotlivých součástí syndromu a průkaz mutace RET protoonkogenu.
Terapie
Pro průkaz syndromu je indikována preventivní totální thyreoidektemie ještě před manifestací karcinomu, taktéž potomkům. Dále se využívá terapie jednotlivých složek, důležitá je dispenzarizace s aktívním vyhledáváním a časnou diagnostikou.
Prognóza
MEN 2B je závažný syndrom se zvýšenou morbiditou a mortalitou. Důležitá je časná diagnostika, terapie jednotlivých složek a také to, jaké složky syndromu se manifestují.
