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

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*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>
*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:
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*#[[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>

Revision as of 10:24, 13 September 2023

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, 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
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.
  • 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]

Aside:

Note:

Gross

Features:[4]

  • Well circumscribed.
  • Renal medulla.

Microscopic

Features:[1][4]

  • Variable architecture:
  • 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.[9]
  • 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. ↑ 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.
  7. ↑ 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.
  8. ↑ 8.0 8.1 8.2 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.
  9. ↑ 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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