Difference between revisions of "SMARCB1"
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'''SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1''', commonly abbreviated '''SMARCB1''', is a diagnostic [[immunostain]], because nuclear staining is lost in some specific types of cancer shown below. | '''SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1''', commonly abbreviated '''SMARCB1''', is a diagnostic [[immunostain]], because nuclear staining is lost in some specific types of cancer shown below. | ||
It is also known as '''INI1''' and '''BAF47'''. | It is also known as '''INI1''', '''INI-1''' and '''BAF47'''. | ||
==Negative== | ==Negative== | ||
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* [[Extrarenal malignant rhabdoid tumour]].<ref>Jackson EM, Sievert AJ, Gai X et al. (March 2009). "Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors". Clin. Cancer Res. 15 (6): 1923–30.</ref> | * [[Extrarenal malignant rhabdoid tumour]].<ref>Jackson EM, Sievert AJ, Gai X et al. (March 2009). "Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors". Clin. Cancer Res. 15 (6): 1923–30.</ref> | ||
* [[Renal rhabdoid tumour]]. | * [[Renal rhabdoid tumour]]. | ||
* SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.<ref name=pmid25007146>{{Cite journal | last1 = Bishop | first1 = JA. | last2 = Antonescu | first2 = CR. | last3 = Westra | first3 = WH. | title = SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. | journal = Am J Surg Pathol | volume = 38 | issue = 9 | pages = 1282-9 | month = Sep | year = 2014 | doi = 10.1097/PAS.0000000000000285 | PMID = 25007146 }}</ref> | * [[SMARCB1-deficient sinonasal carcinoma|SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract]].<ref name=pmid25007146>{{Cite journal | last1 = Bishop | first1 = JA. | last2 = Antonescu | first2 = CR. | last3 = Westra | first3 = WH. | title = SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract. | journal = Am J Surg Pathol | volume = 38 | issue = 9 | pages = 1282-9 | month = Sep | year = 2014 | doi = 10.1097/PAS.0000000000000285 | PMID = 25007146 }}</ref> | ||
* [[Atypical teratoid/rhabdoid tumour]].<ref>{{Cite journal | last1 = Hasselblatt | first1 = M. | last2 = Isken | first2 = S. | last3 = Linge | first3 = A. | last4 = Eikmeier | first4 = K. | last5 = Jeibmann | first5 = A. | last6 = Oyen | first6 = F. | last7 = Nagel | first7 = I. | last8 = Richter | first8 = J. | last9 = Bartelheim | first9 = K. | title = High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. | journal = Genes Chromosomes Cancer | volume = 52 | issue = 2 | pages = 185-90 | month = Feb | year = 2013 | doi = 10.1002/gcc.22018 | PMID = 23074045 }}</ref> | * [[Atypical teratoid/rhabdoid tumour]].<ref>{{Cite journal | last1 = Hasselblatt | first1 = M. | last2 = Isken | first2 = S. | last3 = Linge | first3 = A. | last4 = Eikmeier | first4 = K. | last5 = Jeibmann | first5 = A. | last6 = Oyen | first6 = F. | last7 = Nagel | first7 = I. | last8 = Richter | first8 = J. | last9 = Bartelheim | first9 = K. | title = High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. | journal = Genes Chromosomes Cancer | volume = 52 | issue = 2 | pages = 185-90 | month = Feb | year = 2013 | doi = 10.1002/gcc.22018 | PMID = 23074045 }}</ref> | ||
* Up to 30% of [[synovial sarcoma]].<ref>{{Cite journal | last1 = Mularz | first1 = K. | last2 = Harazin-Lechowska | first2 = A. | last3 = Ambicka | first3 = A. | last4 = Kruczak | first4 = A. | last5 = Rozmus-Piętoń | first5 = M. | last6 = Marchińska-Osika | first6 = U. | last7 = Swiątkiewicz | first7 = I. | last8 = Król | first8 = M. | last9 = Pabis | first9 = D. | title = Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma. | journal = Pol J Pathol | volume = 63 | issue = 3 | pages = 179-83 | month = Nov | year = 2012 | doi = | PMID = 23161234 }}</ref> | |||
* [[Renal medullary carcinoma]]. | |||
* Renal carcinoma (not ''rhabdoid tumour'' and not ''medullary carcinoma'').<ref>{{cite journal |authors=Agaimy A, Hartmann A |title=[SMARCB1(INI1)-deficient renal cell carcinoma: medullary and beyond : Evolving concepts] |language=German |journal=Pathologe |volume=42 |issue=6 |pages=571–577 |date=November 2021 |pmid=34609565 |doi=10.1007/s00292-021-00985-y |url=}}</ref> | |||
* Rhabdoid carcinoma of gastrointestinal tract.<ref name=pmid24503755>{{cite journal |authors=Agaimy A, Rau TT, Hartmann A, Stoehr R |title=SMARCB1 (INI1)-negative rhabdoid carcinomas of the gastrointestinal tract: clinicopathologic and molecular study of a highly aggressive variant with literature review |journal=Am J Surg Pathol |volume=38 |issue=7 |pages=910–20 |date=July 2014 |pmid=24503755 |doi=10.1097/PAS.0000000000000173 |url=}}</ref> | |||
==See also== | ==See also== | ||
*[[Immunohistochemistry]]. | *[[Immunohistochemistry]]. | ||
*[[SMARCA4]]. | |||
*[[SMARCA4-deficient adenocarcinoma of the lung]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Immunohistochemistry]] | [[Category:Immunohistochemistry]] | ||
[[Category:Neuropathology]] | [[Category:Neuropathology]] | ||
Latest revision as of 00:57, 27 December 2023
| SMARCB1 | |
|---|---|
| Immunostain in short | |
 INI1-ve in AT/RT. | |
| Abbreviation | SMARCB1, BAF47 |
| Normal staining pattern | nuclear staining |
| Positive | any healthy tissue |
| Negative | AT/RT, renal rhabdoid tumour, extrarenal malignant rhabdoid tumour, atypical teratoid/rhabdoid tumour, epithelioid sarcoma |
SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1, commonly abbreviated SMARCB1, is a diagnostic immunostain, because nuclear staining is lost in some specific types of cancer shown below.
It is also known as INI1, INI-1 and BAF47.
Negative
- Epithelioid sarcoma.[1]
- Extrarenal malignant rhabdoid tumour.[2]
- Renal rhabdoid tumour.
- SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.[3]
- Atypical teratoid/rhabdoid tumour.[4]
- Up to 30% of synovial sarcoma.[5]
- Renal medullary carcinoma.
- Renal carcinoma (not rhabdoid tumour and not medullary carcinoma).[6]
- Rhabdoid carcinoma of gastrointestinal tract.[7]
See also
References
- ↑ Hornick, Jason (2009). "Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma". American Journal of Surgical Pathology.
- ↑ Jackson EM, Sievert AJ, Gai X et al. (March 2009). "Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors". Clin. Cancer Res. 15 (6): 1923–30.
- ↑ Bishop, JA.; Antonescu, CR.; Westra, WH. (Sep 2014). "SMARCB1 (INI-1)-deficient carcinomas of the sinonasal tract.". Am J Surg Pathol 38 (9): 1282-9. doi:10.1097/PAS.0000000000000285. PMID 25007146.
- ↑ Hasselblatt, M.; Isken, S.; Linge, A.; Eikmeier, K.; Jeibmann, A.; Oyen, F.; Nagel, I.; Richter, J. et al. (Feb 2013). "High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.". Genes Chromosomes Cancer 52 (2): 185-90. doi:10.1002/gcc.22018. PMID 23074045.
- ↑ Mularz, K.; Harazin-Lechowska, A.; Ambicka, A.; Kruczak, A.; Rozmus-Piętoń, M.; Marchińska-Osika, U.; Swiątkiewicz, I.; Król, M. et al. (Nov 2012). "Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma.". Pol J Pathol 63 (3): 179-83. PMID 23161234.
- ↑ Agaimy A, Hartmann A (November 2021). "[SMARCB1(INI1)-deficient renal cell carcinoma: medullary and beyond : Evolving concepts]" (in German). Pathologe 42 (6): 571–577. doi:10.1007/s00292-021-00985-y. PMID 34609565.
- ↑ Agaimy A, Rau TT, Hartmann A, Stoehr R (July 2014). "SMARCB1 (INI1)-negative rhabdoid carcinomas of the gastrointestinal tract: clinicopathologic and molecular study of a highly aggressive variant with literature review". Am J Surg Pathol 38 (7): 910–20. doi:10.1097/PAS.0000000000000173. PMID 24503755.