Multiple endocrine neoplasia type 2 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_2]] | |||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} | ||
==Overview== | ==Overview== | ||
Multiple endocrine neoplasia type 2 must be differentiated from other hereditary tumors such as [[medullary thyroid carcinoma]], C-cell hyperplasia, [[pheochromocytoma]], [[von Hippel Lindau syndrome]], hereditary paraganglioma-pheochromocytoma, polycythemia and paraganglioma/pheochromocytoma syndrome, [[neurofibromatosis type 1]], and [[multiple endocrine neoplasia type 1]] (MEN 1). | Multiple endocrine neoplasia type 2 must be differentiated from other hereditary tumors such as [[medullary thyroid carcinoma]], C-[[Cell (biology)|cell]] [[hyperplasia]], [[pheochromocytoma]], [[von Hippel Lindau syndrome]], [[Heredity|hereditary]] [[paraganglioma]]-[[pheochromocytoma]], [[polycythemia]] and [[paraganglioma]]/[[pheochromocytoma]] [[syndrome]], [[neurofibromatosis type 1]], and [[multiple endocrine neoplasia type 1]] ([[MEN 1]]). | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
Multiple endocrine neoplasia type 2 must be differentiated from the following | Multiple endocrine neoplasia type 2 must be [[Differentiate|differentiated]] from the following [[Disease|diseases]].<ref name="ToledoLourenco Jr2013">{{cite journal|last1=Toledo|first1=SP|last2=Lourenco Jr|first2=DM|last3=Toledo|first3=RA|title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts|journal=Clinics|volume=68|issue=7|year=2013|pages=1039–1056|issn=18075932|doi=10.6061/clinics/2013(07)24}}</ref> | ||
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! 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 the epididymis (men) or broad ligament of the uterus (women) | *[[Bilateral]] papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women) | ||
| 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" |<nowiki>-</nowiki> | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki> | ||
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| 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 | * In hereditary VHL, disease techniques such as [[Southern blotting]] and [[gene sequencing]] can be used to analyse [[DNA]] and identify mutations. | ||
|- | |- | ||
| 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"| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| 17q23-q24 | * [[PRKAR1A]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | | 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" | - | ||
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|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|RAS | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|17 | * [[RAS]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17 | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* [[Scoliosis]] | * [[Scoliosis]] | ||
* Learning disabilities | * [[Learning disabilities]] | ||
* [[Vision]] disorders | * [[Visual disturbance|Vision]] disorders | ||
* Cutaneous [[lesion]]s | * [[Cutaneous]] [[lesion]]s | ||
* [[Epilepsy]]. | * [[Epilepsy]]. | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | - | ||
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| 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>Prenatal</u>''' | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |'''<u>Prenatal</u>''' | ||
* Chorionic villus | * [[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 neurofibromas of any type or 1 plexiform neurofibroma | * Two or more [[Neurofibroma|neurofibromas]] of any type or 1 [[plexiform neurofibroma]] | ||
* Freckling in | * Freckling in the [[axillary]] ([[Crowe sign]]) or [[Inguinal region|inguinal]] regions | ||
* Optic glioma | * [[Optic glioma]] | ||
* Two or | * Two or more [[Lisch nodules]] (pigmented iris [[hamartomas]]) | ||
* A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or | * A distinctive [[osseous]] lesion such as [[Sphenoid bone|sphenoid]] [[dysplasia]], or thinning of the long bone cortex with or without [[pseudarthrosis]]. | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Li-Fraumeni syndrome]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |TP53 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[TP53 (gene)|TP53]] | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17 | | 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 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Early onset of diverse amount of [[cancer]]s such as | ||
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| 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" | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Gardner's syndrome]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | APC | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[APC]] | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21 | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* | * Multiple [[polyps]] in the [[colon]] | ||
* | * [[Osteomas]] of the [[skull]] | ||
* Thyroid cancer | * [[Thyroid cancer]] | ||
* Epidermoid cysts | * [[Epidermoid cyst|Epidermoid cysts]] | ||
* Fibromas | * [[Fibroma|Fibromas]] | ||
* Desmoid tumors | * [[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" | - | | 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]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |''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" | - | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* [[Medullary thyroid carcinoma]] (MTC) | * [[Medullary thyroid carcinoma]] (MTC) | ||
* [[Pheochromocytoma]] | * [[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" | - | ||
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|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | | style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]] | ||
| 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" |- | * [[PTEN]] | ||
| 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" | | |||
* [[Hamartomas]] | |||
| 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" |<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" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* ''PTEN'' mutation probability risk calculator | * ''[[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" |- | | 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]] | ||
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| 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" | | ||
* 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]] | ||
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| 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]] | * [[Visual field defect]]s classically [[bitemporal hemianopsia]] | ||
* | * [[Increased intracranial pressure]] | ||
* [[Migraine]] | * [[Migraine]] | ||
* [[Lateral rectus]] palsy | * [[Lateral rectus]] palsy | ||
| 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" |<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" | | | 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" |- | | 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 | * [[Kidney stone]]s | ||
* [[Hypercalcemia]] | * [[Hypercalcemia]] | ||
* [[Constipation]] | * [[Constipation]] | ||
* [[Peptic ulcer]]s | * [[Peptic ulcer]]s | ||
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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]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
''VHL'' | * ''[[VHL]]'' | ||
''RET'' | * ''[[RET gene|RET]]'' | ||
''NF1'' | * ''[[NF1]]'' | ||
''SDHB'' | * ''[[SDHB]]'' | ||
''SDHD'' | * ''[[SDHD]]'' | ||
| 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" |Characterized by | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by | ||
* Episodic [[hypertension]] | * Episodic [[hypertension]] | ||
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| 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" | | ||
* | * 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]] | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
*p53 | *[[p53]] | ||
*Retinoblastoma h19 | *[[Retinoblastoma]] h19 | ||
*Insulin-like growth factor II (IGF-II) | *Insulin-like growth factor II (IGF-II) | ||
*p57<sup>kip2</sup> | *[[P57 (gene)|p57]]<sup>kip2</sup> | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
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| 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" | | ||
* Increased serum glucose | * [[Hyperglycemia|Increased serum glucose]] | ||
* Increased | * Increased [[urine]] [[cortisol]] | ||
* | * Serum [[androstenedione]] and [[dehydroepiandrosterone]] | ||
* Low serum potassium | * [[Hypokalemia|Low serum potassium]] | ||
* Low | * Low plasma [[renin]] activity | ||
* High | * High serum [[aldosterone]] | ||
* Excess | * Excess serum [[estrogen]] | ||
|- | |- | ||
| 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> | ||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | |||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
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[[Category:Surgery]] |
Latest revision as of 14:37, 26 June 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Multiple endocrine neoplasia type 2 must be differentiated from other hereditary tumors such as medullary thyroid carcinoma, C-cell hyperplasia, pheochromocytoma, von Hippel Lindau syndrome, hereditary paraganglioma-pheochromocytoma, polycythemia and paraganglioma/pheochromocytoma syndrome, neurofibromatosis type 1, and multiple endocrine neoplasia type 1 (MEN 1).
Differential Diagnosis
Multiple endocrine neoplasia type 2 must be differentiated from the following diseases.[1]
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 Two or more specific endocrine tumors
| ||
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[2] |
References
- ↑ Toledo, SP; Lourenco Jr, DM; Toledo, RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics. 68 (7): 1039–1056. doi:10.6061/clinics/2013(07)24. ISSN 1807-5932.
- ↑ 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.