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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 02:37, 20 March 2024
, 20 Marchno edit summary
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| Caption = Renal medullary carcinoma (right of image), reactive urothelium and sickled [[red blood cell]]s. [[H&E stain]]. (WC/Nephron) | | Caption = Renal medullary carcinoma (right of image), reactive urothelium and sickled [[red blood cell]]s. [[H&E stain]]. (WC/Nephron) | ||
| Synonyms = | | Synonyms = | ||
| Micro = | | Micro = variable architecture (reticular - resembling a ''net'', [[adenoid cystic carcinoma]]-like, [[yolk sac tumour]]-like), [[desmoplastic stroma]] (usu. prominent), drepanocytes (sickled red blood cells) | ||
| Subtypes = | | Subtypes = | ||
| LMDDx = [[collecting duct carcinoma]], [[yolk sac tumour]], [[hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]] | | LMDDx = [[collecting duct carcinoma]], [[yolk sac tumour]], [[hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]], [[ALK translocation renal cell carcinoma]] | ||
| Stains = | | Stains = | ||
| IHC = INI1 -ve, vimentin +ve, EMA +ve | | IHC = [[SMARCB1]] (INI1) -ve, PAX8 +ve, cyclin D1 +ve, CK7 +ve, vimentin +ve, EMA +ve | ||
| EM = | | EM = | ||
| Molecular = | | Molecular = | ||
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| Assdx = [[sickle cell disease]] or sickle cell trait | | Assdx = [[sickle cell disease]] or sickle cell trait | ||
| Syndromes = | | Syndromes = | ||
| Clinicalhx = usu. young adults | | Clinicalhx = usu. young adults with [[sickle cell disease]] or sickle cell trait | ||
| Signs = | | Signs = | ||
| Symptoms = | | Symptoms = | ||
| Prevalence = rare | | Prevalence = rare | ||
| Bloodwork = | | Bloodwork = | ||
| Rads = | | Rads = muscle hypertrophy (due to exercise) | ||
| Endoscopy = | | Endoscopy = | ||
| Prognosis = poor | | Prognosis = poor | ||
| Other = | | Other = | ||
| ClinDDx = | | ClinDDx = other [[renal tumours]] | ||
| Tx = | | Tx = | ||
}} | }} | ||
''' | '''SMARCB1-deficient renal medullary carcinoma''' is a rare [[malignant]] [[kidney tumour]] associated with sickle cell trait and a poor prognosis. | ||
It was previously called '''renal medullary carcinoma''', abbreviated '''RMC'''. | |||
==General== | ==General== | ||
*Rare. | *Rare. | ||
*Usually young adults. | *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> | *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> | ||
* | *Associated with high-intensity exercise.<ref name=pmid34885132>{{cite journal |authors=Shapiro DD, Soeung M, Perelli L, Dondossola E, Surasi DS, Tripathi DN, Bertocchio JP, Carbone F, Starbuck MW, Van Alstine ML, Rao P, Katz MH, Parker NH, Shah AY, Carugo A, Heffernan TP, Schadler KL, Logothetis C, Walker CL, Wood CG, Karam JA, Draetta GF, Tannir NM, Genovese G, Msaouel P |title=Association of High-Intensity Exercise with Renal Medullary Carcinoma in Individuals with Sickle Cell Trait: Clinical Observations and Experimental Animal Studies |journal=Cancers (Basel) |volume=13 |issue=23 |pages= |date=November 2021 |pmid=34885132 |doi=10.3390/cancers13236022 |url=}}</ref> | ||
Aside: | Aside: | ||
| Line 48: | Line 51: | ||
*#[[Pyelonephritis]]. | *#[[Pyelonephritis]]. | ||
Note: | |||
*[[ALK translocation renal cell carcinoma]] is a separate entity; it was previously thought to be related to renal medullary 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> | |||
==Gross== | ==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> | 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. | *Well circumscribed. | ||
*Renal medulla. | *Renal medulla. | ||
===Imaging=== | |||
*Increase muscle surface area (muscle hypertrophy) - due to exercise.<ref name=pmid34885132/> | |||
==Microscopic== | ==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> | 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: | *Variable architecture: | ||
**Reticular - classic. | **Reticular (resembling a ''net'') - classic. | ||
**[[Adenoid cystic carcinoma]]-like appearance: | **[[Adenoid cystic carcinoma]]-like appearance: | ||
***Cystic spaces. | ***Cystic spaces. | ||
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**Lymphocytes. | **Lymphocytes. | ||
**Neutrophils - margination in vessels. | **Neutrophils - margination in vessels. | ||
*+/-Drepanocytes (sickled red blood cells) - especially among extravascular [[red blood cell]]s. | |||
DDx: | DDx: | ||
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*[[Collecting duct carcinoma]]. | *[[Collecting duct carcinoma]]. | ||
*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | *[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | ||
*[[ALK translocation renal cell carcinoma]]. | |||
===Images=== | ===Images=== | ||
| Line 97: | Line 107: | ||
==IHC== | ==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> | 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> | *[[SMARCB1]] (INI1) -ve.<ref name=Ref_WMSP286>{{Ref WMSP|286}}</ref> | ||
*Vimentin +ve. | *Vimentin +ve. | ||
*EMA +ve. | *EMA +ve. | ||
*CAM5.2 +ve. | *CAM5.2 +ve. | ||
*AE1/AE3 +ve. | *AE1/AE3 +ve. | ||
*Cyclin D1 +ve.<ref name=pmid22686875/> | |||
A panel: | |||
*AE1/AE3, cyclin D1, CK7, PAX8, p63, INI-1, L-ALK, RCC, CKIT, AMACR, GATA3, CK34betaE12, CK5/6, vimentin. | |||
==Sign out== | |||
<pre> | |||
Left Kidney, Radical Nephrectomy: | |||
- RENAL MEDULLARY CARCINOMA, see comment. | |||
-- Margin POSITIVE for carcinoma. | |||
-- Please see synoptic report. | |||
- Four lymph nodes POSITIVE for carcinoma of six (4 positive/6). | |||
</pre> | |||
==See also== | ==See also== | ||