https://scholars.lib.ntu.edu.tw/handle/123456789/615846
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Tsai, Jen-Wei | en_US |
dc.contributor.author | JEN-CHIEH LEE | en_US |
dc.contributor.author | Hsieh, Tsung-Han | en_US |
dc.contributor.author | Huang, Shih-Chiang | en_US |
dc.contributor.author | Lee, Pei-Hang | en_US |
dc.contributor.author | Liu, Ting-Ting | en_US |
dc.contributor.author | Kao, Yu-Chien | en_US |
dc.contributor.author | Chang, Ching-Di | en_US |
dc.contributor.author | Weng, Te-Fu | en_US |
dc.contributor.author | Li, Chien-Feng | en_US |
dc.contributor.author | Lin, Jung-Chia | en_US |
dc.contributor.author | Liang, Cher-Wei | en_US |
dc.contributor.author | Su, Yu-Li | en_US |
dc.contributor.author | Chang, Ian Yi-Feng | en_US |
dc.contributor.author | Wang, Yu-Ting | en_US |
dc.contributor.author | Chang, Nien-Yi | en_US |
dc.contributor.author | Yu, Shih-Chen | en_US |
dc.contributor.author | Wang, Jui-Chu | en_US |
dc.contributor.author | Huang, Hsuan-Ying | en_US |
dc.date.accessioned | 2022-07-26T08:01:51Z | - |
dc.date.available | 2022-07-26T08:01:51Z | - |
dc.date.issued | 2022 | - |
dc.identifier.issn | 0893-3952 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/615846 | - |
dc.description.abstract | NTRK-rearranged mesenchymal neoplasms mostly affect the soft tissues of pediatric patients. Given the responsiveness to selective NTRK inhibitors, it remains critical to identify those ultra-rare cases occurring in the viscera of adults. In five females and two males aged 18-53 years, we characterized visceral mesenchymal tumors harboring TPM3-NTRK1 [uterine cervix (N = 2), pleura, prostate], LMNA-NTRK1 (lung), SQSTM1-NTRK3 (heart), and NTRK3 rearrangement with unknown fusion partner (colon/mesocolon) with RNA sequencing, FISH, RT-PCR, and immunohistochemistry. The tumors exhibited spindled to ovoid/epithelioid or pleomorphic cells, often arranged in fascicles, and were low-to-intermediate-grade and high-grade in three and four cases, respectively. Keloid-like stromal collagen and perivascular hyalinization was noted in five. Adenosarcoma-like appearances were observed in two, manifesting frond-like protrusions in one cervical tumor and phyllodes-like architecture in the prostatic tumor. Abrupt high-grade transformation into pleomorphic liposarcoma was found in another cervical tumor, while the pleural tumor contained intermixed rhabdomyoblasts. Pan-TRK immunostaining was positive in all cases. All cases expressed CD34, while five were S100-positive. CDKN2A homozygous deletion with concomitant p16 loss occurred in 4/7. Whole-exome sequencing identified TP53 mutation (c.672+2T>C, involving a splice site, with concomitant protein loss) in a cervical sarcoma, limited to its heterologous liposarcomatous component. At least moderate pan-TRK immunoreactivity was present in varying proportions of potential pathologic mimics, with BCOR-positive sarcoma (56%, 5/9), undifferentiated uterine sarcoma (50%, 3/6), and spindle cell/sclerosing rhabdomyosarcoma (33%, 2/6) being among the most frequent. This underscored the unsatisfactory specificity of pan-TRK immunohistochemistry and warranted molecular confirmation in the diagnosis of adult NTRK-rearranged visceral mesenchymal neoplasms. The current report highlights the ever-expanding clinicopathologic and genetic spectrum of this entity by describing the unprecedented cardiac and pleural locations and heterologous differentiation, as well as the second NTRK-rearranged "prostatic stromal sarcoma," while substantiating CDKN2A deletion as a frequent occurrence. | en_US |
dc.language.iso | en | en_US |
dc.publisher | SPRINGERNATURE | en_US |
dc.relation.ispartof | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | en_US |
dc.subject | CONGENITAL INFANTILE FIBROSARCOMA; SOFT-TISSUE SARCOMAS; CERVICAL SARCOMA; GENE FUSIONS; CASE SERIES; ETV6-NTRK3; SUBSET; EXPRESSION; TUMOR; COLON | en_US |
dc.title | Adult NTRK-rearranged spindle cell neoplasms of the viscera: with an emphasis on rare locations and heterologous elements | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1038/s41379-021-01005-3 | - |
dc.identifier.pmid | 35149769 | - |
dc.identifier.scopus | 2-s2.0-85124515932 | - |
dc.identifier.isi | WOS:000754139200001 | - |
dc.identifier.url | https://scholars.lib.ntu.edu.tw/handle/123456789/597452 | - |
dc.relation.pages | 911 | en_US |
dc.relation.journalvolume | 35 | en_US |
dc.relation.journalissue | 7 | en_US |
dc.relation.pageend | 921 | en_US |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
crisitem.author.dept | Pathology | - |
crisitem.author.dept | Pathology-NTUH | - |
crisitem.author.orcid | 0000-0001-7739-5934 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 病理學科所 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。