Multiple endocrine neoplasia type 2 differential diagnosis: Difference between revisions
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<small> | |||
{| style="border: 0px; font-size: 90%; 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|Gene}} | |||
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Chromosome}} | |||
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differentiating Features}} | |||
! colspan="3" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Components of MEN}} | |||
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Diagnosis}} | |||
|- | |||
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Parathyroid}} | |||
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pitutary}} | |||
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pancreas}} | |||
|- | |||
| 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" |3p25.3 | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* Angiomatosis, | |||
* Hemangioblastomas, | |||
* Pheochromocytoma, | |||
* Renal cell carcinoma, | |||
* Pancreatic cysts (pancreatic serous cystadenoma) | |||
* Endolymphatic sac tumor, | |||
* 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" | + | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* Clinical diagnosis | |||
* 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"| PRKAR1A | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| 17q23-q24 | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | |||
* Myxomas of the heart | |||
* Hyperpigmentation of the skin (lentiginosis) | |||
* 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 | |||
|- | |||
| 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"|17 | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| | |||
* [[Scoliosis]] | |||
* Learning disabilities | |||
* [[Vision]] disorders | |||
* 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" | - | |||
| 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. | |||
'''<u>Postnatal</u>''' | |||
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. | |||
* Two or more neurofibromas of any type or 1 plexiform neurofibroma | |||
* Freckling in the axillary (Crowe sign) or inguinal regions | |||
* Optic glioma | |||
* 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 without pseudarthrosis. | |||
|- | |||
| 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" |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>''' | |||
* Sarcoma 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. | |||
|- | |||
| 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" | 5q21 | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* Multiple polyps in the colon | |||
* Osteomas of the skull | |||
* Thyroid cancer, | |||
* Epidermoid cysts, | |||
* Fibromas | |||
* 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 | |||
* Colonoscopy | |||
|- | |||
| 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" | - | |||
| 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]] | |||
* [[Hypophosphatemia]], | |||
* Elevated [[parathyroid hormone]], | |||
* Elevated [[norepinephrine]] | |||
'''<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" |PTEN | |||
| 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" |<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 | |||
|- | |||
| 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]] | |||
* [[Hypertrichosis]] | |||
* [[Hyperpigmentation]] | |||
* [[Hyperhidrosis]] | |||
* [[Carpal tunnel syndrome]]. | |||
| 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" | | |||
* 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" | - | |||
| 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" |- | |||
| 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" |- | |||
| 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]] | |||
| 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" | | |||
* 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]]. | |||
* An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level in post [[Kidney transplantation|renal transplant]] patients is diagnostic of tertiary hyperparathyoidism. | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]] | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
''VHL'' | |||
''RET'' | |||
''NF1'' | |||
''SDHB'' | |||
''SDHD'' | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |- | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by | |||
* Episodic [[hypertension]] | |||
* [[Palpitation]]s | |||
* [[Anxiety]] | |||
* [[Diaphoresis]] | |||
* [[Weight loss]] | |||
| 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" | | |||
* 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" | | |||
*p53 | |||
*Retinoblastoma h19 | |||
*Insulin-like growth factor II (IGF-II) | |||
*p57<sup>kip2</sup> | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q | |||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | | |||
* [[Cushing syndrome]] ([[cortisol]] hypersecretion) | |||
* [[Conn syndrome]] ([[aldosterone]] hypersecretion) | |||
* [[virilization]] ([[testosterone]] hypersecretion) | |||
| 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" | | |||
* Increased serum glucose | |||
* Increased urine cortisol | |||
* Serum androstenedione and dehydroepiandrosterone | |||
* Low serum potassium | |||
* Low plasma renin activity | |||
* High serum aldosterone. | |||
* 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> | |||
|} | |||
</small> | |||
==References== | ==References== |
Revision as of 20:22, 17 October 2017
Multiple endocrine neoplasia type 2 Microchapters |
Differentiating Multiple endocrine neoplasia type 2 from other Diseases |
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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 hereditary diseases.[1]
Disease | Definition |
---|---|
Medullary thyroid carcinoma | Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the parafollicular cells (C cells), which produce the hormone calcitonin. |
C-cell hyperplasia | It is a genetic condition that causes proliferation of C cells of parathyroid gland. |
Pheochromocytoma | A neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth. |
von Hippel Lindau syndrome | An autosomal dominant genetic disorder causing abnormal growth of blood vessels in different parts of the body. |
Hereditary paraganglioma-pheochromocytoma syndrome | A genetic disorder causing abnormal growth of ganglions along with tumor of the medulla of adrenal gland. |
Polycythemia and paraganglioma/pheochromocytoma | A genetic disorder causing abnormal growth of ganglions and RBC cells. |
Neurofibromatosis type 1 | Neurofibromatosis type I is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division causing tumors along the nervous system. Common symptoms of neurofibromatosis type I include scoliosis (curvature of the spine), learning disabilities, vision disorders, and epilepsy. |
Multiple endocrine neoplasia type 1 (MEN 1) | An autosomal dominant genetic disorder causing tumors of parathyroid, pancreas, and pituitary gland. |
Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/[2] |
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[3] |
References
- ↑ Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 20301434.
- ↑ Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 20301434.
- ↑ 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.