Multiple endocrine neoplasia syndrome: Difference between revisions
Feedback

From WikiLectures

VisualWikitext
No edit summary
No edit summary
Line 8: Line 8:
=== Clinical picture ===
=== Clinical picture ===
# '''[[Primary hyperparathyroidism]]''' – occurs within the syndrome with a probability of 95-100% and is also the first manifestation.
# '''[[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 %).  
# '''Tumors of the endocrine pancreas''' – can be a functional 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]].  
# '''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, ...
'''MEN 1 can include''': adenomas of the adrenal glands, carcinoid, subcutaneous lipomas, angiofibromas on the face, collagenomas, ...
Line 26: Line 26:
=== Clinical picture ===
=== Clinical picture ===
# [[Medullary carcinoma of the thyroid gland|Medullary carcinoma of the thyroid gland]] – usually manifests first, is highly malignant.
# [[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.
 
== MEN 2B syndrome ==
 
=== Definition and epidemiology ===
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 ===
Mutation of the RET proto-oncogene located on chromosome 10.
 
=== 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.


== Syndrom MEN 2B ==
=== Diagnostics ===
Evidence of individual components of the syndrome and evidence of a RET proto-oncogene mutation.


=== Definice a epidemiologie ===
=== Therapy ===
Autozomálně dominantně dědičný syndrom s prevalencí 1–3 případy na 100 000 obyvatel. Složkami syndromu jsou: medulární karcinom štítné žlázy, feochromocytom, slizniční neuromy.
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.
=== 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 ===
=== Prognosis ===
Průkaz jednotlivých součástí syndromu a průkaz mutace RET protoonkogenu.
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.
=== 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.  




== Odkazy ==
== Links ==
=== Související články ===
=== related articles ===
* [[Medulární karcinom štítné žlázy]]
* [[Medullary carcinoma of the thyroid gland]]
* [[Feochromocytom]]
* [[Pheochromocytoma]]
=== Zdroj ===
=== Zdroj ===
* {{Citace
* {{Cite
| typ = kniha
| 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]]

Revision as of 09:43, 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

  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

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

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

Differential diagnosis

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

Therapy

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

Prognosis

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

Definition and epidemiology

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

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

Clinical picture

  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

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

Therapy

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

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

related articles

Zdroj

  • ČEŠKA, Richard – TESAŘ, Vladimír, et al. Interna. 1. edition. Praha : Triton, 2010. ISBN 978-80-7387-423-0.
Retrieved from "https://www.wikilectures.eu/index.php?title=Multiple_endocrine_neoplasia_syndrome&oldid=62352"