Difference between revisions of "SMARCB1-deficient renal medullary carcinoma"

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'''Renal medullary carcinoma''', abbreviated '''RMC''', is a rare [[malignant]] [[kidney tumour]] associated with sickle cell trait and a poor prognosis.
{{ 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      = variable architecture (reticular - resembling a ''net'', [[adenoid cystic carcinoma]]-like, [[yolk sac tumour]]-like), [[desmoplastic stroma]] (usu. prominent), drepanocytes (sickled red blood cells)
| 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        = [[SMARCB1]] (INI1) -ve, PAX8 +ve, cyclin D1 +ve, CK7 +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 with [[sickle cell disease]] or sickle cell trait
| Signs      =
| Symptoms  =
| Prevalence = rare
| Bloodwork  =
| Rads      = muscle hypertrophy (due to exercise)
| Endoscopy  =
| Prognosis  = poor
| Other      =
| ClinDDx    = other [[renal tumours]]
| 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.
*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>
*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 15: 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 |author=Watanabe IC, Billis A, Guimarães MS, ''et al.'' |title=Renal medullary carcinoma: report of seven cases from Brazil |journal=Mod. Pathol. |volume=20 |issue=9 |pages=914–20 |year=2007 |month=September |pmid=17643096 |doi=10.1038/modpathol.3800934 |url=}}</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 |author=Watanabe IC, Billis A, Guimarães MS, ''et al.'' |title=Renal medullary carcinoma: report of seven cases from Brazil |journal=Mod. Pathol. |volume=20 |issue=9 |pages=914–20 |year=2007 |month=September |pmid=17643096 |doi=10.1038/modpathol.3800934 |url=}}</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.
**Yolk sac-like.
**Yolk sac-like.
**Tubular.
**Tubular.
*Desmoplastic stroma - prominent.
*[[Desmoplastic stroma]] - prominent.
*Inflammation:
*Inflammation:
**Lymphocytes.
**Lymphocytes.
**Neutrophils - margination in vessels.
**Neutrophils - margination in vessels.
*+/-Drepanocytes (sickled red blood cells) - especially among extravascular [[red blood cell]]s.


DDx:
DDx:
*[[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]].
===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===
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/>
 
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==
*[[Kidney tumours]].
*[[Kidney tumours]].
*[[Collecting duct carcinoma]].
*[[Collecting duct carcinoma]].
*[[Sickle cell disease]].


==References==
==References==

Latest revision as of 02:37, 20 March 2024

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 variable architecture (reticular - resembling a net, adenoid cystic carcinoma-like, yolk sac tumour-like), desmoplastic stroma (usu. prominent), drepanocytes (sickled red blood cells)
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 SMARCB1 (INI1) -ve, PAX8 +ve, cyclin D1 +ve, CK7 +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 with sickle cell disease or sickle cell trait
Prevalence rare
Radiology muscle hypertrophy (due to exercise)
Prognosis poor
Clin. DDx other renal tumours

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

  • Rare.
  • Usually young adults.
  • Strong association with sickle cell trait (heterozygotes for the sickle cell allele)[1] and sickle cell disease.[2]
    • A large series (217 cases) showed 88% (191/217) have sickle cell trait and 8% (16/217) have sickle cell disease.[3]
  • Aggressive/poor prognosis.[4]
  • Closely related to collecting duct carcinoma.[5]
  • Associated with high-intensity exercise.[6]

Aside:

Note:

Gross

Features:[4]

  • Well circumscribed.
  • Renal medulla.

Imaging

  • Increase muscle surface area (muscle hypertrophy) - due to exercise.[6]

Microscopic

Features:[1][4]

  • Variable architecture:
    • Reticular (resembling a net) - 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 among extravascular red blood cells.

DDx:

Images

Case

  • RMC - low mag.

  • RMC - intermed. mag.

  • RMC - high mag.

  • RMC - high mag.

  • RMC - high mag.

  • RMC - very high mag.

  • RMC - intermed. mag.

  • RMC - high mag.

  • RMC - very high mag.

  • URC and RMC - intermed. mag.

  • URC and RMC - high mag.

  • Urothelium with RC - very high mag.

www

IHC

Features:[2]

  • SMARCB1 (INI1) -ve.[10]
  • Vimentin +ve.
  • EMA +ve.
  • CAM5.2 +ve.
  • AE1/AE3 +ve.
  • Cyclin D1 +ve.[5]

A panel:

  • AE1/AE3, cyclin D1, CK7, PAX8, p63, INI-1, L-ALK, RCC, CKIT, AMACR, GATA3, CK34betaE12, CK5/6, vimentin.

Sign out

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).

See also

References

  1. ↑ 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. ↑ 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. ↑ Alvarez O, Rodriguez MM, Jordan L, Sarnaik S (October 2015). "Renal medullary carcinoma and sickle cell trait: A systematic review". Pediatr Blood Cancer 62 (10): 1694–9. doi:10.1002/pbc.25592. PMID 26053587.
  4. ↑ 4.0 4.1 4.2 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.
  5. ↑ 5.0 5.1 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.
  6. ↑ 6.0 6.1 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 (November 2021). "Association of High-Intensity Exercise with Renal Medullary Carcinoma in Individuals with Sickle Cell Trait: Clinical Observations and Experimental Animal Studies". Cancers (Basel) 13 (23). doi:10.3390/cancers13236022. PMID 34885132.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 9.0 9.1 9.2 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.
  10. ↑ 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.
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