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'''MEN = Syndrom mnohočetné endokrinní neoplázie''' – patří sem tři syndromy, jejichž hlavní součásti tvoří nádory endokrinních žláz.  
'''MEN = Multiple Endocrine Neoplasia Syndrome''' - this includes three syndromes, the main components of which are tumors of the endocrine glands.


== Syndrom MEN 1 (Wermerův syndrom) ==
== MEN 1 syndrome (Wermer syndrome) ==
=== Definice a epidemiologie ===
=== Definition and epidemiology ===
[[Autozomálně dominantní dědičnost|Autozomálně dominantně]] dědičný syndrom s prevalencí 2–20 případů na 100 000 obyvatel vyznačující se především primární hyperparathyreózou, tumory endokrinní části pankreatu a tumory hypofýzy.  
[[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.
=== Etiopatogeneze ===
=== Etiopathogenesis===
Defekty (delece, [[mutace]]) [[gen]]u pro protein menin. Tento gen je [[Tumor supresorové geny|tumor supresorovým genem]]. Je lokalizován na 11. chromozomu.  
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.
=== Klinický obraz ===
=== Clinical picture ===
# '''[[Primární hyperparathyreóza]]''' – v rámci syndromu se vyskytuje s pravděpodobností 95–100 % a bývá také první manifestací.  
# '''[[Primary hyperparathyroidism]]''' – occurs within the syndrome with a probability of 95-100% and is also the first manifestation.
# '''Tumory endokrinního pankreatu''' – mohou být afunkční nebo hormonálně aktivní – nejčastěji [[Gastrinom|gastrinom]] (60 %) nebo [[inzulinom]] (20 %).  
# '''Tumors of the endocrine pancreas''' – can be a functional or hormonally active - most often [[gastrinoma|gastrinoma]] (60 %) or [[insulinoma]] (20 %).  
# '''Tumory hypofýzy''' – téměř vždy''' adenomy'''. Mohou být afunkční, v případě aktivity se téměř vždy jedná o [[prolaktinom]].  
# '''Pituitary tumors''' – almost always ''' adenomas '''. They can be non-functional, in the case of activity it is almost always a [[prolactinoma]].  
'''Součástí MEN 1 mohou být''': adenomy nadledvin, karcinoid, podkožní lipomy, angiofibromy na tváři, kolagenomy, …
'''MEN 1 can include''': adenomas of the adrenal glands, carcinoid, subcutaneous lipomas, angiofibromas on the face, collagenomas, ...
=== Diagnostika ===
=== Diagnostics===
Průkaz minimálně dvou základních součástí syndromu, průkaz diagnózy na základě molekulárně biologických vyšetření.  
Proof of at least two basic components of the syndrome, proof of diagnosis based on molecular biological examinations.
=== Terapie ===
=== Therapy===
Spočívá v terapii jednotlivých složek.  
It consists in the therapy of individual components.
=== Prognóza ===
=== Prognosis===
Zvýšená [[morbidita]] a [[mortalita]] závisí na časné diagnostice a léčbě jednotlivých složek.  
Increased [[morbidity]] and [[mortality]] depend on early diagnosis and treatment of individual components.


== Syndrom MEN 2A (Sippleův syndrom) ==
== MEN 2A syndrome (Sipple syndrome) ==


=== Definice a epidemiologie ===
=== Definition and epidemiology ===
Autozomálně dominantně dědičný syndrom s prevalencí 1–5 případů na 100 000 obyvatel. Složkami syndromu jsou: medulární karcinom štítné žlázy, feochromocytom, primární hyperparathyreóza.  
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.
=== Etiopatogeneze ===
=== Etiopathogenesis===
Mutace RET [[Protoonkogen|protoonkogenu]] lokalizovaného na 10. chromozomu.  
Mutation of the RET [[proto-oncogene|proto-oncogene]] located on the 10th chromosome.
=== Klinický obraz ===
=== Clinical picture ===
# [[Medulární karcinom štítné žlázy|Medulární karcinom štítné žlázy]] – manifestuje se obvykle jako první, je vysoce maligní.  
# [[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 %.  
# '''Primary hyperparathyroidism''' – manifests in approximately 25%.
# [[Feochromocytom|Feochromocytom]].
# [[Pheochromocytoma|Pheochromocytoma]].


=== Diferenciální diagnostika ===
=== Differential diagnosis ===
Odlišení od jiných nádorových syndromů. Diagnózu potvrdíme průkazem mutace RET protoonkogenu.
Differentiation from other tumor syndromes. We will confirm the diagnosis by showing a mutation of the RET proto-oncogene.
=== Terapie ===
=== Therapy===
Spočívá v terapii jednotlivých složek. Důležitá je dispenzarizace a potomkům je indikována preventivní totální thyreoidektemie.
It consists in the therapy of individual components. Dispensary is important and preventive total thyroidectomy is indicated for offspring.
=== Prognóza ===
=== Prognosis===
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.
MEN 2A is a severe syndrome with increased morbidity and mortality. Early diagnosis, therapy of individual components and also which components of the syndrome are manifested are important.


== Syndrom MEN 2B ==
== MEN 2B syndrome ==


=== Definice a epidemiologie ===
=== Definition and epidemiology ===
Autozomálně dominantně dědičný syndrom s prevalencí 1–3 případy na 100 000 obyvatel. Složkami syndromu jsou: medulární karcinom štítné žlázy, feochromocytom, slizniční neuromy.
An autosomal dominantly inherited syndrome with a prevalence of 1–3 cases per 100,000 population. Components of the syndrome are: medullary carcinoma of the thyroid gland, pheochromocytoma, mucosal neuromas.
=== 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 ===
=== Etiopathogenesis ===
Průkaz jednotlivých součástí syndromu a průkaz mutace RET protoonkogenu.
Mutation of the RET proto-oncogene located on chromosome 10.
=== 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.  


=== Clinical picture ===
# '''Medullary thyroid carcinoma''' – present in 100% of cases.
# '''Pheochromocytoma ''' – present in 50% of cases, often bilateral.
# '''Mucous neuromas ''' – in 100% of cases, marfanoid habitus (70%) and intestinal ganglioneuromas.


== Odkazy ==
=== Diagnostics ===
=== Související články ===
Evidence of individual components of the syndrome and evidence of a RET proto-oncogene mutation.
* [[Medulární karcinom štítné žlázy]]
 
* [[Feochromocytom]]
=== Therapy ===
=== Zdroj ===
To prove the syndrome, preventive total thyroidectomy is indicated even before the manifestation of cancer, also for offspring. The therapy of individual components is also used, dispensary with active search and early diagnosis is important.
* {{Citace
 
| typ = kniha
=== Prognosis ===
MEN 2B is a severe syndrome with increased morbidity and mortality. Early diagnosis, therapy of individual components and also which components of the syndrome are manifested are important.
 
 
== Links ==
*[[ws:MEN syndrom]]
=== related articles ===
* [[Medullary carcinoma of the thyroid gland]]
* [[Pheochromocytoma]]
=== Source ===
* {{Cite
| type = book
| isbn = 978-80-7387-423-0
| isbn = 978-80-7387-423-0
| příjmení1 = Češka
| surname1= Češka
| jméno1 = Richard
| name1= Richard
| příjmení2 = Tesař
| surname2= Tesař
| jméno2 = Vladimír
| name2= Vladimír
| kolektiv = ano
| others = yes
| titul = Interna
| title = Interna
| vydání = 1
| edition = 1
| místo = Praha
| location = Praha
| vydavatel = Triton
| publisher = Triton
| rok = 2010
| year = 2010
}}
}}


[[Kategorie:Endokrinologie]]
[[Category:Endocrinology]]
[[Kategorie:Genetika]]
[[Category:Genetics]]

Latest revision as of 20:25, 4 January 2023

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)[edit | edit source]

Definition and epidemiology[edit | edit source]

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[edit | edit source]

Defects (deletion, mutation) gene of the menin protein. This gene is a tumor suppressor gene. It is located on the 11th chromosome.

Clinical picture[edit | edit source]

  1. Primary hyperparathyroidism – occurs within the syndrome with a probability of 95-100% and is also the first manifestation.
  2. Tumors of the endocrine pancreas – can be a functional or hormonally active - most often gastrinoma (60 %) or insulinoma (20 %).
  3. 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[edit | edit source]

Proof of at least two basic components of the syndrome, proof of diagnosis based on molecular biological examinations.

Therapy[edit | edit source]

It consists in the therapy of individual components.

Prognosis[edit | edit source]

Increased morbidity and mortality depend on early diagnosis and treatment of individual components.

MEN 2A syndrome (Sipple syndrome)[edit | edit source]

Definition and epidemiology[edit | edit source]

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[edit | edit source]

Mutation of the RET proto-oncogene located on the 10th chromosome.

Clinical picture[edit | edit source]

  1. Medullary carcinoma of the thyroid gland – usually manifests first, is highly malignant.
  2. Primary hyperparathyroidism – manifests in approximately 25%.
  3. Pheochromocytoma.

Differential diagnosis[edit | edit source]

Differentiation from other tumor syndromes. We will confirm the diagnosis by showing a mutation of the RET proto-oncogene.

Therapy[edit | edit source]

It consists in the therapy of individual components. Dispensary is important and preventive total thyroidectomy is indicated for offspring.

Prognosis[edit | edit source]

MEN 2A is a severe syndrome with increased morbidity and mortality. Early diagnosis, therapy of individual components and also which components of the syndrome are manifested are important.

MEN 2B syndrome[edit | edit source]

Definition and epidemiology[edit | edit source]

An autosomal dominantly inherited syndrome with a prevalence of 1–3 cases per 100,000 population. Components of the syndrome are: medullary carcinoma of the thyroid gland, pheochromocytoma, mucosal neuromas.

Etiopathogenesis[edit | edit source]

Mutation of the RET proto-oncogene located on chromosome 10.

Clinical picture[edit | edit source]

  1. Medullary thyroid carcinoma – present in 100% of cases.
  2. Pheochromocytoma – present in 50% of cases, often bilateral.
  3. Mucous neuromas – in 100% of cases, marfanoid habitus (70%) and intestinal ganglioneuromas.

Diagnostics[edit | edit source]

Evidence of individual components of the syndrome and evidence of a RET proto-oncogene mutation.

Therapy[edit | edit source]

To prove the syndrome, preventive total thyroidectomy is indicated even before the manifestation of cancer, also for offspring. The therapy of individual components is also used, dispensary with active search and early diagnosis is important.

Prognosis[edit | edit source]

MEN 2B is a severe syndrome with increased morbidity and mortality. Early diagnosis, therapy of individual components and also which components of the syndrome are manifested are important.


Links[edit | edit source]

related articles[edit | edit source]

Source[edit | edit source]

  • ČEŠKA, Richard – TESAŘ, Vladimír, et al. Interna. 1. edition. Praha : Triton, 2010. ISBN 978-80-7387-423-0.
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