Multiple endocrine neoplasia type 1 differential diagnosis: Difference between revisions
Aditya Ganti (talk | contribs) |
Aditya Ganti (talk | contribs) |
||
Line 33: | Line 33: | ||
* 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) | ||
|<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 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]] | ||
| PRKAR1A | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| PRKAR1A | ||
|17q23-q24 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| 17q23-q24 | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | ||
* Myxomas of the heart | * Myxomas of the heart | ||
* Hyperpigmentation of the skin (lentiginosis) | * Hyperpigmentation of the skin (lentiginosis) | ||
* Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease) | * Endocrine (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"|RAS | ||
|17 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|17 | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | ||
* [[ | * [[Scoliosis]] | ||
* Learning disabilities | * Learning disabilities | ||
* [[vision]] disorders | * [[vision]] disorders | ||
* Cutaneous [[lesion]]s | * Cutaneous [[lesion]]s | ||
* | * [[Epilepsy]]. | ||
| - | | 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 sampling or amniocentesis can be used to detect NF-1 in the fetus. | * Chorionic villus sampling or amniocentesis can be used to detect 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 more 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. | * Six or more 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 neurofibromas of any type or 1 plexiform neurofibroma | ||
* Freckling in the axillary (Crowe sign) or inguinal regions | * Freckling in the axillary (Crowe sign) or inguinal regions | ||
Line 79: | Line 76: | ||
* A distinctive osseous lesion such as 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 without pseudarthrosis. | ||
|- | |- | ||
| 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" |TP53 | ||
|17 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17 | ||
|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 | ||
* [[ | * [[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) | ||
Line 97: | Line 94: | ||
* 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" | APC | ||
| 5q21 | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21 | ||
| | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | ||
* Multiple polyps in the colon | * Multiple polyps in the colon | ||
* Osteomas of the skull | * Osteomas of the skull | ||
Line 107: | Line 104: | ||
* Fibromas | * Fibromas | ||
* Desmoid tumors | * 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'' | ||
| | | 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]] | * 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 | Two or more specific endocrine tumors | ||
* [[medullary thyroid carcinoma]] | * [[medullary thyroid carcinoma]] | ||
Line 141: | Line 133: | ||
|- | |- | ||
| 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" |- | ||
| Hamartomas | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hamartomas | ||
| - | | 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" | | ||
* ''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" | | ||
* 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]] | * [[visual field defect]]s classically [[bitemporal hemianopsia]] | ||
* Increased [[intracranial pressure]] | * 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 serum level of [[prolactin]] | ||
:*Elevated or decreased serum level of [[adrenocorticotropic hormone]] (ACTH) | :*Elevated or decreased serum level of [[adrenocorticotropic hormone]] (ACTH) | ||
Line 185: | Line 177: | ||
|- | |- | ||
| 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]]. | ||
Line 202: | Line 194: | ||
|- | |- | ||
| 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'' | ||
''NF1'' | ''NF1'' | ||
''SDHB'' | ''SDHB'' | ||
''SDHD'' | ''SDHD'' | ||
| | | 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]] | ||
* [[palpitation]]s | * [[palpitation]]s | ||
Line 218: | Line 207: | ||
* [[diaphoresis]] | * [[diaphoresis]] | ||
* [[weight loss]] | * [[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 catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection. | * Increased catecholamines and 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<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 | * Increased serum glucose | ||
* Increased urine cortisol | * Increased urine cortisol | ||
* Serum androstenedione and dehydroepiandrosterone | * Serum androstenedione and dehydroepiandrosterone | ||
* Low serum potassium | * Low serum potassium |
Revision as of 17:08, 17 October 2017
Multiple endocrine neoplasia type 1 Microchapters |
Differentiating Multiple endocrine neoplasia type 1 from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Multiple endocrine neoplasia type 1 differential diagnosis On the Web |
American Roentgen Ray Society Images of Multiple endocrine neoplasia type 1 differential diagnosis |
FDA on Multiple endocrine neoplasia type 1 differential diagnosis |
CDC on Multiple endocrine neoplasia type 1 differential diagnosis |
Multiple endocrine neoplasia type 1 differential diagnosis in the news |
Blogs on Multiple endocrine neoplasia type 1 differential diagnosis |
Directions to Hospitals Treating Multiple endocrine neoplasia type 1 |
Risk calculators and risk factors for Multiple endocrine neoplasia type 1 differential diagnosis |
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 1 must be differentiated from other hereditary diseases 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
Multiple endocrine neoplasia type 1 must be differentiated from the hereditary diseases shown in the table below.
Disease | Gene | Chromosome | Differentiating Features | Components of MEN | Diagnosis | ||
---|---|---|---|---|---|---|---|
Parathyroid | Pitutary | Pancreas | |||||
von Hippel-Lindau syndrome | Von Hippel–Lindau tumor suppressor | 3p25.3 |
|
- | - | + |
|
Carney complex | PRKAR1A | 17q23-q24 |
|
- | - | - |
|
Neurofibromatosis type 1 | RAS | 17 | - | - | - | Prenatal
Postnatal Cardinal Clinical Features" are required for positive diagnosis.
| |
Li-Fraumeni syndrome | TP53 | 17 | Early onset of diverse amount of cancers such as | - | - | - |
Criteria
|
Gardner's syndrome | APC | 5q21 |
|
- | - | - |
|
Multiple endocrine neoplasia type 2 | RET | - |
|
+ | - | - |
Criteria Two or more specific endocrine tumors
|
Cowden syndrome | PTEN | - | Hamartomas | - | - | - |
|
Acromegaly/gigantism | - | - |
|
- | + | - |
|
Pituitary adenoma | - | - |
|
- | + | - |
|
Hyperparathyroidism | - | - | - | + | - | - |
|
Pheochromocytoma/paraganglioma |
VHL RET NF1 SDHB SDHD |
- | 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[1] |
References
- ↑ 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.