Clinicopathological and genetic findings of infantile nodular fasciitis
Recent findings indicated that recurrent gene rearrangement of ubiquitin-specific protease 6 (USP6), located at 17p13.2, favors the clonally proliferative nature of NF. Immunohistochemical staining was conducted, and all the cases with available data were positive for smooth muscle actin (SMA) [Figu...
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| Published in | Chinese medical journal Vol. 134; no. 22; pp. 2768 - 2770 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
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China
Lippincott Williams & Wilkins Ovid Technologies
20.11.2021
Lippincott Williams & Wilkins Wolters Kluwer |
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| Abstract | Recent findings indicated that recurrent gene rearrangement of ubiquitin-specific protease 6 (USP6), located at 17p13.2, favors the clonally proliferative nature of NF. Immunohistochemical staining was conducted, and all the cases with available data were positive for smooth muscle actin (SMA) [Figure 1D] and negative for desmin. [1,2] Considering the limitation of the traditional RT-PCR method, such as limitations of reported primers and relative low detection sensitivity, further molecular studies such as next generation sequencing based technology are needed in discovering other occult or novel alterations. [1]USP6 rearrangements have been identified in infantile NFs but not in any of the abovementioned histologic mimics. [...]USP6 status, combined with the clinicopathologic, molecular, and genetic characteristics of infantile NF histologic mimics, can be useful in the diagnosis-making process. |
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| AbstractList | Recent findings indicated that recurrent gene rearrangement of ubiquitin-specific protease 6 (USP6), located at 17p13.2, favors the clonally proliferative nature of NF. Immunohistochemical staining was conducted, and all the cases with available data were positive for smooth muscle actin (SMA) [Figure 1D] and negative for desmin. [1,2] Considering the limitation of the traditional RT-PCR method, such as limitations of reported primers and relative low detection sensitivity, further molecular studies such as next generation sequencing based technology are needed in discovering other occult or novel alterations. [1]USP6 rearrangements have been identified in infantile NFs but not in any of the abovementioned histologic mimics. [...]USP6 status, combined with the clinicopathologic, molecular, and genetic characteristics of infantile NF histologic mimics, can be useful in the diagnosis-making process. |
| Author | Zhang, Hong-Ying He, Xin Zeng, Wen-Jing Hu, Xue Qiu, Yan |
| AuthorAffiliation | Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China |
| AuthorAffiliation_xml | – name: Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China |
| Author_xml | – sequence: 1 givenname: Yan surname: Qiu fullname: Qiu, Yan organization: Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China – sequence: 2 givenname: Xue surname: Hu fullname: Hu, Xue – sequence: 3 givenname: Xin surname: He fullname: He, Xin – sequence: 4 givenname: Wen-Jing surname: Zeng fullname: Zeng, Wen-Jing – sequence: 5 givenname: Hong-Ying surname: Zhang fullname: Zhang, Hong-Ying |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34845999$$D View this record in MEDLINE/PubMed |
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| References | Bemrich-Stolz (R6-20240814) 2010; 32 Teramura (R8-20240814) 2019; 69 Guo (R7-20240814) 2016; 55 Pandian (R5-20240814) 2013; 48 Erickson-Johnson (R2-20240814) 2011; 91 Lu (R4-20240814) 2020; 477 Qiu (R3-20240814) 2020 |
| References_xml | – volume: 48 start-page: 1486 year: 2013 ident: R5-20240814 article-title: Nodular fasciitis in the pediatric population: a single center experience publication-title: J Pediatr Surg doi: 10.1016/j.jpedsurg.2012.12.041 contributor: fullname: Pandian – year: 2020 ident: R3-20240814 article-title: Atypical nodular fasciitis with a novel PAFAH1B1-USP6 fusion in a 22-month-old boy publication-title: Virchows Arch contributor: fullname: Qiu – volume: 55 start-page: 640 year: 2016 ident: R7-20240814 article-title: PPP6R3-USP6 amplification: novel oncogenic mechanism in malignant nodular fasciitis publication-title: Genes Chromosomes Cancer doi: 10.1002/gcc.22366 contributor: fullname: Guo – volume: 69 start-page: 706 year: 2019 ident: R8-20240814 article-title: Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation publication-title: Pathol Int doi: 10.1111/pin.12851 contributor: fullname: Teramura – volume: 32 start-page: 354 year: 2010 ident: R6-20240814 article-title: Single institution series of nodular fasciitis in children publication-title: J Pediatr Hematol Oncol doi: 10.1097/MPH.0b013e3181df6305 contributor: fullname: Bemrich-Stolz – volume: 91 start-page: 1427 year: 2011 ident: R2-20240814 article-title: Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion publication-title: Lab Invest doi: 10.1038/labinvest.2011.118 contributor: fullname: Erickson-Johnson – volume: 477 start-page: 455 year: 2020 ident: R4-20240814 article-title: Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing publication-title: Virchows Arch doi: 10.1007/s00428-020-02792-x contributor: fullname: Lu |
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| Title | Clinicopathological and genetic findings of infantile nodular fasciitis |
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