Difference between revisions of "SMARCB1-deficient renal medullary carcinoma"
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{{ 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. | '''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> | |||
*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: | Aside: | ||
Line 15: | Line 49: | ||
==Gross== | ==Gross== | ||
Features:<ref name=pmid17643096>{{ | 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. | ||
==Microscopic== | ==Microscopic== | ||
Features:<ref name=pmid7528470/><ref name=pmid17643096>{{ | 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 - classic. | ||
Line 27: | Line 61: | ||
**Yolk sac-like. | **Yolk sac-like. | ||
**Tubular. | **Tubular. | ||
*Desmoplastic stroma - prominent. | *[[Desmoplastic stroma]] - prominent. | ||
*Inflammation: | *Inflammation: | ||
**Lymphocytes. | **Lymphocytes. | ||
Line 35: | Line 69: | ||
*[[Yolk sac tumour]]. | *[[Yolk sac tumour]]. | ||
*[[Collecting duct carcinoma]]. | *[[Collecting duct carcinoma]]. | ||
*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma]]. | |||
*[[ALK translocation renal cell carcinoma]]. | |||
===Image=== | ===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/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== | ==IHC== | ||
*SMARCB1 (INI1) -ve.<ref name=Ref_WMSP286>{{Ref WMSP|286}}</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> | |||
*Vimentin +ve. | |||
*EMA +ve. | |||
*CAM5.2 +ve. | |||
*AE1/AE3 +ve. | |||
*Cyclin D1 +ve.<ref name=pmid22686875/> | |||
==See also== | ==See also== | ||
*[[Kidney tumours]]. | *[[Kidney tumours]]. | ||
*[[Collecting duct carcinoma]]. | *[[Collecting duct carcinoma]]. | ||
*[[Sickle cell disease]]. | |||
==References== | ==References== |
Revision as of 15:29, 20 September 2019
SMARCB1-deficient renal medullary carcinoma | |
---|---|
Diagnosis in short | |
Renal medullary carcinoma (right of image), reactive urothelium and sickled red blood cells. H&E stain. (WC/Nephron) | |
LM DDx | collecting duct carcinoma, yolk sac tumour, hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma, ALK translocation renal cell carcinoma |
IHC | INI1 -ve, vimentin +ve, EMA +ve |
Gross | well-circumscribed mass in renal medulla |
Grossing notes | total nephrectomy for tumour grossing, partial nephrectomy grossing |
Staging | kidney cancer staging |
Site | kidney, medulla - see kidney tumours |
| |
Associated Dx | sickle cell disease or sickle cell trait |
Clinical history | usu. young adults |
Prevalence | rare |
Prognosis | poor |
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.
- Associated with sickle cell trait (heterozygotes for the sickle cell allele)[1] or sickle cell disease.[2]
- Aggressive/poor prognosis.[3]
- Closely related to collecting duct carcinoma.[4]
- May be related to the proposed ALK translocation renal cell carcinoma.[5][6]
Aside:
- Kidney disease associated with sickle cell disorders:[1]
- Papillary necrosis.
- Nephrotic syndrome.
- Renal infarction.
- Pyelonephritis.
Gross
Features:[3]
- Well circumscribed.
- Renal medulla.
Microscopic
- Variable architecture:
- Reticular - classic.
- Adenoid cystic carcinoma-like appearance:
- Cystic spaces.
- Yolk sac-like.
- Tubular.
- Desmoplastic stroma - prominent.
- Inflammation:
- Lymphocytes.
- Neutrophils - margination in vessels.
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
www
- RMC (nature.com).
- RMC - low mag. (nature.com).[7]
- RMC - high mag. (nature.com).[7]
- RMC with yolk sac-like morphology (nature.com).[7]
IHC
Features:[2]
See also
References
- ↑ 1.0 1.1 1.2 Davis CJ, Mostofi FK, Sesterhenn IA (January 1995). "Renal medullary carcinoma. The seventh sickle cell nephropathy". Am. J. Surg. Pathol. 19 (1): 1–11. PMID 7528470.
- ↑ 2.0 2.1 Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB (June 2008). "Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior". Mod. Pathol. 21 (6): 647–52. doi:10.1038/modpathol.2008.44. PMID 18327209.
- ↑ 3.0 3.1 3.2 Watanabe, IC.; Billis, A.; Guimarães, MS.; Alvarenga, M.; de Matos, AC.; Cardinalli, IA.; Filippi, RZ.; de Castro, MG. et al. (Sep 2007). "Renal medullary carcinoma: report of seven cases from Brazil.". Mod Pathol 20 (9): 914-20. doi:10.1038/modpathol.3800934. PMID 17643096. http://www.nature.com/modpathol/journal/v20/n9/full/3800934a.html.
- ↑ 4.0 4.1 Calderaro J, Moroch J, Pierron G, et al. (September 2012). "SMARCB1/INI1 inactivation in renal medullary carcinoma". Histopathology 61 (3): 428–35. doi:10.1111/j.1365-2559.2012.04228.x. PMID 22686875.
- ↑ Mariño-Enríquez, A.; Ou, WB.; Weldon, CB.; Fletcher, JA.; Pérez-Atayde, AR. (Mar 2011). "ALK rearrangement in sickle cell trait-associated renal medullary carcinoma.". Genes Chromosomes Cancer 50 (3): 146-53. doi:10.1002/gcc.20839. PMID 21213368.
- ↑ Srigley, JR.; Delahunt, B.; Eble, JN.; Egevad, L.; Epstein, JI.; Grignon, D.; Hes, O.; Moch, H. et al. (Oct 2013). "The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia.". Am J Surg Pathol 37 (10): 1469-89. doi:10.1097/PAS.0b013e318299f2d1. PMID 24025519.
- ↑ 7.0 7.1 7.2 Srigley, JR.; Delahunt, B. (Jun 2009). "Uncommon and recently described renal carcinomas.". Mod Pathol 22 Suppl 2: S2-S23. doi:10.1038/modpathol.2009.70. PMID 19494850.
- ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 286. ISBN 978-0781765275.