View source for SMARCB1-deficient renal medullary carcinoma

{{ Infobox diagnosis
| Name       = {{PAGENAME}}
| Image      = Renal medullary carcinoma - 2 -- high mag.jpg
| Width      =
| Caption    = Renal medullary carcinoma (right of image), reactive urothelium and sickled [[red blood cell]]s. [[H&E stain]]. (WC/Nephron)
| Synonyms   =
| Micro      =
| Subtypes   =
| LMDDx      = [[collecting duct carcinoma]], [[yolk sac tumour]], [[hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]], [[ALK translocation renal cell carcinoma]]
| Stains     =
| IHC        = INI1 -ve, vimentin +ve, EMA +ve
| EM         =
| Molecular  =
| IF         =
| Gross      = well-circumscribed mass in renal medulla
| Grossing   = [[total nephrectomy for tumour grossing]], [[partial nephrectomy grossing]]
| Staging    = [[kidney cancer staging]]
| 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.

==General==
*Rare.
*Usually young adults.
*Strong association 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> and [[sickle cell disease]].<ref name=pmid18327209/>
**A large series (217 cases) showed 88% (191/217) have sickle cell trait and 8% (16/217) have sickle cell disease.<ref name=pmid26053587>{{cite journal |authors=Alvarez O, Rodriguez MM, Jordan L, Sarnaik S |title=Renal medullary carcinoma and sickle cell trait: A systematic review |journal=Pediatr Blood Cancer |volume=62 |issue=10 |pages=1694–9 |date=October 2015 |pmid=26053587 |doi=10.1002/pbc.25592 |url=}}</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>
*May be related to the proposed [[ALK translocation renal cell carcinoma]].<ref name=pmid21213368>{{Cite journal  | last1 = Mariño-Enríquez | first1 = A. | last2 = Ou | first2 = WB. | last3 = Weldon | first3 = CB. | last4 = Fletcher | first4 = JA. | last5 = Pérez-Atayde | first5 = AR. | title = ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. | journal = Genes Chromosomes Cancer | volume = 50 | issue = 3 | pages = 146-53 | month = Mar | year = 2011 | doi = 10.1002/gcc.20839 | PMID = 21213368 }}</ref><ref name=pmid24025519>{{Cite journal  | last1 = Srigley | first1 = JR. | last2 = Delahunt | first2 = B. | last3 = Eble | first3 = JN. | last4 = Egevad | first4 = L. | last5 = Epstein | first5 = JI. | last6 = Grignon | first6 = D. | last7 = Hes | first7 = O. | last8 = Moch | first8 = H. | last9 = Montironi | first9 = R. | title = The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. | journal = Am J Surg Pathol | volume = 37 | issue = 10 | pages = 1469-89 | month = Oct | year = 2013 | doi = 10.1097/PAS.0b013e318299f2d1 | PMID = 24025519 }}</ref>

Aside:
*Kidney disease associated with sickle cell disorders:<ref name=pmid7528470/>
*#Papillary necrosis.
*#[[Nephrotic syndrome]].
*#Renal [[infarction]]. 
*#[[Pyelonephritis]].

==Gross==
Features:<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>
*Well circumscribed.
*Renal medulla.

==Microscopic==
Features:<ref name=pmid7528470/><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>
*Variable architecture:
**Reticular - classic.
**[[Adenoid cystic carcinoma]]-like appearance:
***Cystic spaces.
**Yolk sac-like.
**Tubular.
*[[Desmoplastic stroma]] - prominent.
*Inflammation:
**Lymphocytes.
**Neutrophils - margination in vessels.
*+/-Drepanocytes (sickled red blood cells) - especially extravascular [[red blood cell]]s.

DDx:
*[[Yolk sac tumour]].
*[[Collecting duct carcinoma]].
*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]].
*[[ALK translocation renal cell carcinoma]].

===Images===
====Case====
<gallery>
Image: Renal medullary carcinoma -- low mag.jpg | RMC - low mag.
Image: Renal medullary carcinoma -- intermed mag.jpg | RMC - intermed. mag.
Image: Renal medullary carcinoma -- high mag.jpg | RMC - high mag.
Image: Renal medullary carcinoma - alt1 -- high mag.jpg | RMC - high mag.
Image: Renal medullary carcinoma - alt2 -- high mag.jpg | RMC - high mag.
Image: Renal medullary carcinoma -- very high mag.jpg | RMC - very high mag.

Image: Renal medullary carcinoma - 2 -- intermed mag.jpg | RMC - intermed. mag.
Image: Renal medullary carcinoma - 2 -- high mag.jpg | RMC - high mag.
Image: Renal medullary carcinoma - 2 -- very high mag.jpg | RMC - very high mag.

Image: Urothelium with reactive changes and RMC -- intermed mag.jpg | URC and RMC - intermed. mag.
Image: Urothelium with reactive changes and RMC -- high mag.jpg | URC and RMC - high mag.
Image: Urothelium with reactive changes -- very high mag.jpg | Urothelium with RC - very high mag.
</gallery>
====www====
*[http://www.nature.com/modpathol/journal/v20/n9/fig_tab/3800934f3.html#figure-title RMC (nature.com)].
*[http://www.nature.com/modpathol/journal/v22/n2s/fig_tab/modpathol200970f5.html#figure-title RMC - low mag. (nature.com)].<ref name=pmid19494850/>
*[http://www.nature.com/modpathol/journal/v22/n2s/fig_tab/modpathol200970f6.html#figure-title RMC - high mag. (nature.com)].<ref name=pmid19494850>{{Cite journal  | last1 = Srigley | first1 = JR. | last2 = Delahunt | first2 = B. | title = Uncommon and recently described renal carcinomas. | journal = Mod Pathol | volume = 22 Suppl 2 | issue =  | pages = S2-S23 | month = Jun | year = 2009 | doi = 10.1038/modpathol.2009.70 | PMID = 19494850 }}</ref>
*[http://www.nature.com/modpathol/journal/v22/n2s/fig_tab/modpathol200970f7.html#figure-title RMC with yolk sac-like morphology (nature.com)].<ref name=pmid19494850/>

==IHC==
Features:<ref name=pmid18327209>{{cite journal |author=Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB |title=Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior |journal=Mod. Pathol. |volume=21 |issue=6 |pages=647–52 |year=2008 |month=June |pmid=18327209 |doi=10.1038/modpathol.2008.44 |url=}}</ref>
*[[SMARCB1]] (INI1) -ve.<ref name=Ref_WMSP286>{{Ref WMSP|286}}</ref>
*Vimentin +ve.
*EMA +ve.
*CAM5.2 +ve.
*AE1/AE3 +ve.
*Cyclin D1 +ve.<ref name=pmid22686875/>

==See also==
*[[Kidney tumours]].
*[[Collecting duct carcinoma]].
*[[Sickle cell disease]].

==References==
{{Reflist|2}}


[[Category:Diagnosis]]
[[Category:Kidney tumours]]