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Difference between revisions of "SMARCB1-deficient renal medullary carcinoma"
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SMARCB1-deficient renal medullary carcinoma (view source)
Revision as of 04:25, 3 June 2014
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = | |||
| Width = | |||
| Caption = | |||
| Synonyms = | |||
| Micro = | |||
| Subtypes = | |||
| LMDDx = [[collecting duct carcinoma]], [[yolk sac tumour]] | |||
| Stains = | |||
| IHC = INI1 -ve, vimentin +ve, EMA +ve | |||
| EM = | |||
| Molecular = | |||
| IF = | |||
| Gross = well-circumscribed mass in renal medulla | |||
| Grossing = | |||
| Site = [[kidney]], medulla - see ''[[kidney tumours]]'' | |||
| Assdx = [[sickle cell disease]] or sickle cell trait | |||
| Syndromes = | |||
| Clinicalhx = usu. young adults | |||
| Signs = | |||
| Symptoms = | |||
| Prevalence = rare | |||
| Bloodwork = | |||
| Rads = | |||
| Endoscopy = | |||
| Prognosis = poor | |||
| Other = | |||
| ClinDDx = | |||
| Tx = | |||
}} | |||
'''Renal medullary carcinoma''', abbreviated '''RMC''', is a rare [[malignant]] [[kidney tumour]] associated with sickle cell trait and a poor prognosis. | '''Renal medullary carcinoma''', abbreviated '''RMC''', is a rare [[malignant]] [[kidney tumour]] associated with sickle cell trait and a poor prognosis. | ||
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*Rare. | *Rare. | ||
*Usually young adults. | *Usually young adults. | ||
*Associated with sickle cell trait (heterozygotes for the sickle cell allele) | *Associated with sickle cell trait (heterozygotes for the sickle cell allele)<ref name=pmid7528470>{{cite journal |author=Davis CJ, Mostofi FK, Sesterhenn IA |title=Renal medullary carcinoma. The seventh sickle cell nephropathy |journal=Am. J. Surg. Pathol. |volume=19 |issue=1 |pages=1–11 |year=1995 |month=January |pmid=7528470 |doi= |url=}}</ref> or [[sickle cell disease]].<ref name=pmid18327209/> | ||
*Aggressive/poor prognosis.<ref name=pmid17643096>{{Cite journal | last1 = Watanabe | first1 = IC. | last2 = Billis | first2 = A. | last3 = Guimarães | first3 = MS. | last4 = Alvarenga | first4 = M. | last5 = de Matos | first5 = AC. | last6 = Cardinalli | first6 = IA. | last7 = Filippi | first7 = RZ. | last8 = de Castro | first8 = MG. | last9 = Suzigan | first9 = S. | title = Renal medullary carcinoma: report of seven cases from Brazil. | journal = Mod Pathol | volume = 20 | issue = 9 | pages = 914-20 | month = Sep | year = 2007 | doi = 10.1038/modpathol.3800934 | PMID = 17643096 |url = http://www.nature.com/modpathol/journal/v20/n9/full/3800934a.html }}</ref> | *Aggressive/poor prognosis.<ref name=pmid17643096>{{Cite journal | last1 = Watanabe | first1 = IC. | last2 = Billis | first2 = A. | last3 = Guimarães | first3 = MS. | last4 = Alvarenga | first4 = M. | last5 = de Matos | first5 = AC. | last6 = Cardinalli | first6 = IA. | last7 = Filippi | first7 = RZ. | last8 = de Castro | first8 = MG. | last9 = Suzigan | first9 = S. | title = Renal medullary carcinoma: report of seven cases from Brazil. | journal = Mod Pathol | volume = 20 | issue = 9 | pages = 914-20 | month = Sep | year = 2007 | doi = 10.1038/modpathol.3800934 | PMID = 17643096 |url = http://www.nature.com/modpathol/journal/v20/n9/full/3800934a.html }}</ref> | ||
*Closely related to [[collecting duct carcinoma]].<ref name=pmid22686875>{{cite journal |author=Calderaro J, Moroch J, Pierron G, ''et al.'' |title=SMARCB1/INI1 inactivation in renal medullary carcinoma |journal=Histopathology |volume=61 |issue=3 |pages=428–35 |year=2012 |month=September |pmid=22686875 |doi=10.1111/j.1365-2559.2012.04228.x |url=}}</ref> | *Closely related to [[collecting duct carcinoma]].<ref name=pmid22686875>{{cite journal |author=Calderaro J, Moroch J, Pierron G, ''et al.'' |title=SMARCB1/INI1 inactivation in renal medullary carcinoma |journal=Histopathology |volume=61 |issue=3 |pages=428–35 |year=2012 |month=September |pmid=22686875 |doi=10.1111/j.1365-2559.2012.04228.x |url=}}</ref> | ||