Difference between revisions of "SMARCB1-deficient renal medullary carcinoma"
Jump to navigation
Jump to search
(→Images) |
|||
| Line 38: | Line 38: | ||
*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: | ||
Revision as of 19:22, 27 October 2014
| SMARCB1-deficient renal medullary carcinoma | |
|---|---|
| Diagnosis in short | |
| LM DDx | collecting duct carcinoma, yolk sac tumour |
| IHC | INI1 -ve, vimentin +ve, EMA +ve |
| Gross | well-circumscribed mass in renal medulla |
| 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:
Images
- 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]
- SMARCB1 (INI1) -ve.[8]
- Vimentin +ve.
- EMA +ve.
- CAM5.2 +ve.
- AE1/AE3 +ve.
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. Cite error: Invalid
<ref>tag; name "pmid17643096" defined multiple times with different content Cite error: Invalid<ref>tag; name "pmid17643096" defined multiple times with different content - ↑ 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.