Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Multiple_endocrine_neoplasia_type_1]] | |||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} {{ADG}} | ||
==Overview== | ==Overview== | ||
Multiple endocrine neoplasia type 1 must be differentiated from other | Multiple endocrine neoplasia type 1 must be differentiated from other diseases with similar presentation such as [[von Hippel-Lindau syndrome]], [[tuberous sclerosis]], [[carney complex]], [[neurofibromatosis type 1]], [[Li-Fraumeni syndrome]], [[multiple endocrine neoplasia type 2]], [[familial hyperparathyroidism]], [[pheochromocytoma]], and [[acromegaly]]. | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
The table below summarizes the findings that differentiate multiple endocrine neoplasia type 1 from other conditions with similar presentations: <ref name="pmid10496602">{{cite journal| author=Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS et al.| title=Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. | journal=Mod Pathol | year= 1999 | volume= 12 | issue= 9 | pages= 919-24 | pmid=10496602 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10496602 }} </ref><ref name="pmid28940393">{{cite journal| author=Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J et al.| title=Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis. | journal=Clin Endocrinol (Oxf) | year= 2017 | volume= | issue= | pages= | pmid=28940393 | doi=10.1111/cen.13480 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28940393 }} </ref><ref name="pmid19904212">{{cite journal| author=Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T et al.| title=Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. | journal=Genet Med | year= 2009 | volume= 11 | issue= 12 | pages= 825-35 | pmid=19904212 | doi=10.1097/GIM.0b013e3181be5c97 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19904212 }} </ref> | |||
{| style="border: 0px; font-size: 85%; margin: 3px; width: 600px" align="center" | |||
|+ | |+ | ||
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}} | ! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}} | ||
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|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]] | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Von Hippel–Lindau tumor suppressor | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[Von Hippel-Lindau tumor suppressor|Von Hippel–Lindau tumor suppressor]] | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |3p25.3 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |3p25.3 | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Angiomatosis, | * [[Angiomatosis]], | ||
* Hemangioblastomas | * [[Hemangioblastoma|Hemangioblastomas]] | ||
* Pheochromocytoma | * [[Pheochromocytoma]] | ||
* Renal cell carcinoma | * [[Renal cell carcinoma]] | ||
* | * [[Pancreatic cyst|Pancreatic cysts]] (pancreatic serous cystadenoma) | ||
* Endolymphatic sac tumor | * [[Endolymphatic sac tumor]] | ||
* Bilateral papillary cystadenomas of | * Bilateral papillary cystadenomas of the [[epididymis]] (men) or [[broad ligament of the uterus]] (women) | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | + | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | + | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Clinical diagnosis | * Clinical diagnosis | ||
* In hereditary VHL, disease techniques such as [[Southern blotting]] and [[gene sequencing]] can be used to analyse [[DNA]] and identify mutations. | |||
* In hereditary VHL, disease techniques such | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
|17q23-q24 | * [[PRKAR1A]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 17q23-q24 | ||
* | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Hyperpigmentation of the skin (lentiginosis) | * [[Myxomas]] of the [[heart]] | ||
* | * [[Hyperpigmentation]] of the [[skin]] ([[lentiginosis]]) | ||
| - | * [[Endocrine]] ([[Adrenocorticotropic hormone|ACTH]]-independent [[Cushing's syndrome]] due to primary pigmented nodular adrenocortical disease) | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* Clinical diagnosis | * Clinical diagnosis | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]] | ||
|RAS | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
|17 | * [[RAS]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17 | ||
* [[ | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Learning disabilities | * [[Scoliosis]] | ||
* [[ | * [[Learning disabilities]] | ||
* Cutaneous [[lesion]]s | * [[Visual disturbance|Vision]] disorders | ||
* | * [[Cutaneous]] [[lesion]]s | ||
| - | * [[Epilepsy]]. | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
|'''<u>Prenatal</u>''' | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
* Chorionic villus | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |'''<u>Prenatal</u>''' | ||
* [[Chorionic villus sampling]] or [[amniocentesis]] can be used to detect [[Neurofibromatosis type I|NF-1]] in the fetus. | |||
'''<u>Postnatal</u>''' | '''<u>Postnatal</u>''' | ||
Cardinal Clinical Features" are required for positive diagnosis. | Cardinal Clinical Features" are required for positive diagnosis. | ||
* Six or | * Six or more [[Café-au-lait spot|café-au-lait spots]] over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals. | ||
* Two or more [[Neurofibroma|neurofibromas]] of any type or 1 [[plexiform neurofibroma]] | |||
* Two or more neurofibromas of any type or 1 plexiform neurofibroma | * Freckling in the [[axillary]] ([[Crowe sign]]) or [[Inguinal region|inguinal]] regions | ||
* Freckling in | * [[Optic glioma]] | ||
* Optic glioma | * Two or more [[Lisch nodules]] (pigmented iris [[hamartomas]]) | ||
* Two or | * A distinctive [[osseous]] lesion such as [[Sphenoid bone|sphenoid]] [[dysplasia]], or thinning of the long bone cortex with or without [[pseudarthrosis]]. | ||
* A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]] | ||
|TP53 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
|17 | * [[TP53 (gene)|TP53]] | ||
|Early onset of diverse amount of [[cancer]]s such as | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17 | ||
* [[ | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Early onset of diverse amount of [[cancer]]s such as | ||
* [[ | * [[Sarcoma]] | ||
** [[ | * [[Cancer]]s of | ||
** [[ | ** [[Breast]] | ||
** [[ | ** [[Brain]] | ||
| - | ** [[Adrenal gland]]s | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
'''<u>Criteria</u>''' | '''<u>Criteria</u>''' | ||
* Sarcoma at a young age (below 45) | * [[Sarcoma]] at a young age (below 45) | ||
* A first-degree relative diagnosed with any cancer at a young age (below 45) | * A first-degree relative diagnosed with any [[cancer]] at a young age (below 45) | ||
* A first or second degree relative with any cancer diagnosed before age 60. | * A first or second degree relative with any [[cancer]] diagnosed before age 60. | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]] | ||
|APC | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
| 5q21 | * [[APC]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21 | ||
* | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* | * Multiple [[polyps]] in the [[colon]] | ||
* Thyroid cancer | * [[Osteomas]] of the [[skull]] | ||
* Epidermoid cysts | * [[Thyroid cancer]] | ||
* Fibromas | * [[Epidermoid cyst|Epidermoid cysts]] | ||
* Desmoid tumors | * [[Fibroma|Fibromas]] | ||
| - | * [[Desmoid tumor|Desmoid tumors]] | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* Clinical diagnosis | * Clinical diagnosis | ||
* [[Colonoscopy]] | |||
* Colonoscopy | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]] | ||
|''RET'' | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
| | * ''[[RET gene|RET]]'' | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
* [[ | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[ | * [[Medullary thyroid carcinoma]] (MTC) | ||
* | * [[Pheochromocytoma]] | ||
| + | * [[Primary hyperparathyroidism]] | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | + | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* [[Hypercalcemia]] | * [[Hypercalcemia]] | ||
* [[Hypophosphatemia]], | * [[Hypophosphatemia]], | ||
* Elevated [[parathyroid hormone]], | * Elevated [[parathyroid hormone]], | ||
* Elevated [[norepinephrine]] | * Elevated [[norepinephrine]] | ||
'''<u>Criteria</u>''' | '''<u>Criteria</u>''' | ||
* Two or more specific endocrine tumors | |||
* [[Medullary thyroid carcinoma]] | |||
* [[ | * [[Pheochromocytoma]] | ||
* [[ | * [[Parathyroid]] hyperplasia | ||
* [[ | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | ||
|PTEN | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
| | * [[PTEN]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
|<nowiki>-</nowiki> | * [[Hamartomas]] | ||
| - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
* ''PTEN'' mutation probability risk calculator | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* ''[[PTEN]]'' mutation probability risk calculator | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]] | * Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]] | ||
* [[ | * [[Hypertrichosis]] | ||
* [[ | * [[Hyperpigmentation]] | ||
* [[ | * [[Hyperhidrosis]] | ||
* [[ | * [[Carpal tunnel syndrome]]. | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>+</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of acromegaly. | * An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of [[acromegaly]]. | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[ | * [[Visual field defect]]s classically [[bitemporal hemianopsia]] | ||
* | * [[Increased intracranial pressure]] | ||
* [[ | * [[Migraine]] | ||
* [[ | * [[Lateral rectus]] palsy | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
|<nowiki>+</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki> | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
: | :Elevated serum level of [[prolactin]] Elevated or decreased serum level of [[adrenocorticotropic hormone]] (ACTH) Elevated or decreased serum level of [[growth hormone]] (GH) Elevated or decreased serum level of [[thyroid-stimulating hormone]] (TSH) Elevated or decreased serum level of [[follicle-stimulating hormone]] (FSH) Elevated or decreased serum level of [[luteinizing hormone]] (LH) | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]] | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[ | * [[Kidney stone]]s | ||
* [[ | * [[Hypercalcemia]] | ||
* [[ | * [[Constipation]] | ||
* [[ | * [[Peptic ulcer]]s | ||
* [[ | * [[Depression]] | ||
|<nowiki>+</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level is diagnostic of primary hyperparathyroidism. | * An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level is diagnostic of primary hyperparathyroidism. | ||
* Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum [[parathyroid hormone]] level and low to normal serum [[calcium]]. | * Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum [[parathyroid hormone]] level and low to normal serum [[calcium]]. | ||
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|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]] | ||
|''VHL'' | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* ''[[VHL]]'' | |||
''RET'' | * ''[[RET gene|RET]]'' | ||
* ''[[NF1]]'' | |||
''NF1'' | * ''[[SDHB]]'' | ||
* ''[[SDHD]]'' | |||
''SDHB'' | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by | |||
''SDHD'' | |||
| | |||
|Characterized by | |||
* Episodic [[hypertension]] | * Episodic [[hypertension]] | ||
* [[ | * [[Palpitation]]s | ||
* [[ | * [[Anxiety]] | ||
* [[ | * [[Diaphoresis]] | ||
* [[ | * [[Weight loss]] | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* | * Increased [[Catecholamine|catecholamines]] and [[Metanephrine|metanephrines]] in [[plasma]] ([[blood]]) or through a 24-hour [[urine]] collection. | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]] | ||
|p53 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
*[[p53]] | |||
Retinoblastoma h19 | *[[Retinoblastoma]] h19 | ||
*Insulin-like growth factor II (IGF-II) | |||
*[[P57 (gene)|p57]]<sup>kip2</sup> | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q | |||
p57<sup>kip2</sup> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
|17p, 13q | |||
| | |||
* [[Cushing syndrome]] ([[cortisol]] hypersecretion) | * [[Cushing syndrome]] ([[cortisol]] hypersecretion) | ||
* [[Conn syndrome]] ([[aldosterone]] hypersecretion) | * [[Conn syndrome]] ([[aldosterone]] hypersecretion) | ||
* [[virilization]] ([[testosterone]] hypersecretion) | * [[virilization]] ([[testosterone]] hypersecretion) | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
|<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Increased serum glucose | * [[Hyperglycemia|Increased serum glucose]] | ||
* Increased | * Increased [[urine]] [[cortisol]] | ||
* Serum [[androstenedione]] and [[dehydroepiandrosterone]] | |||
* | * [[Hypokalemia|Low serum potassium]] | ||
* Low serum potassium | * Low plasma [[renin]] activity | ||
* Low | * High serum [[aldosterone]] | ||
* High | * Excess serum [[estrogen]] | ||
* Excess | |||
|- | |- | ||
| colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672 }} </ref> </small> | | colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672 }} </ref> </small> | ||
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{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
[[Category:Up-To-Date]] | |||
[[Category:Oncology]] | |||
[[Category:Medicine]] | |||
[[Category:Endocrinology]] | |||
[[Category:Surgery]] |
Latest revision as of 04:21, 6 July 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2] Aditya Ganti M.B.B.S. [3]
Overview
Multiple endocrine neoplasia type 1 must be differentiated from other diseases with similar presentation such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma, and acromegaly.
Differential Diagnosis
The table below summarizes the findings that differentiate multiple endocrine neoplasia type 1 from other conditions with similar presentations: [1][2][3]
Disease | Gene | Chromosome | Differentiating Features | Components of MEN | Diagnosis | ||
---|---|---|---|---|---|---|---|
Parathyroid | Pitutary | Pancreas | |||||
von Hippel-Lindau syndrome | 3p25.3 |
|
- | - | + |
| |
Carney complex | 17q23-q24 |
|
- | - | - |
| |
Neurofibromatosis type 1 | 17 | - | - | - | Prenatal
Postnatal Cardinal Clinical Features" are required for positive diagnosis.
| ||
Li-Fraumeni syndrome | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Criteria | |
Gardner's syndrome | 5q21 |
|
- | - | - |
| |
Multiple endocrine neoplasia type 2 | - | + | - | - |
Criteria
| ||
Cowden syndrome | - | - | - | - |
| ||
Acromegaly/gigantism | - | - |
|
- | + | - |
|
Pituitary adenoma | - | - | - | + | - |
| |
Hyperparathyroidism | - | - | + | - | - |
| |
Pheochromocytoma/paraganglioma | - | Characterized by | - | - | - |
| |
Adrenocortical carcinoma |
|
17p, 13q |
|
- | - | - |
|
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[4] |
References
- ↑ Vortmeyer AO, Lubensky IA, Skarulis M, Li G, Moon YW, Park WS; et al. (1999). "Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors". Mod Pathol. 12 (9): 919–24. PMID 10496602.
- ↑ Ye L, Wang W, Ospina NS, Jiang L, Christakis I, Lu J; et al. (2017). "Clinical Features and Prognosis of Thymic Neuroendocrine Tumors Associated with Multiple Endocrine Neoplasia Type 1: A Single Center Study, Systematic Review, and Meta-analysis". Clin Endocrinol (Oxf). doi:10.1111/cen.13480. PMID 28940393.
- ↑ Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T; et al. (2009). "Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors". Genet Med. 11 (12): 825–35. doi:10.1097/GIM.0b013e3181be5c97. PMID 19904212.
- ↑ Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.