SMARCB1-deficient renal medullary carcinoma

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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 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.[5]

Aside:

Note:

Gross

Features:[4]

  • Well circumscribed.
  • Renal medulla.

Imaging

  • Increase muscle surface area (muscle hypertrophy) - due to exercise.[5]

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 5.2 5.3 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. Cite error: Invalid <ref> tag; name "pmid22686875" defined multiple times with different content
  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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