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Original research
High frequency of PIK3CA and TERT promoter mutations in fibromatosis-like spindle cell carcinomas
  1. Siyuan Zhong,
  2. Shuling Zhou,
  3. Anqi Li,
  4. Hong Lv,
  5. Ming Li,
  6. Shaoxian Tang,
  7. Xiaoli Xu,
  8. Ruohong Shui,
  9. Wentao Yang
  1. Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
  1. Correspondence to Dr Wentao Yang, Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 20032, China; yangwt2000{at}163.com

Abstract

Aims Fibromatosis-like spindle cell carcinomas (FLSCCs) are rare metaplastic breast cancers (MBCs) that are characterised by bland spindle cells in a collagenous stroma. Although some MBCs are highly malignant, FLSCCs have indolent behaviour with low potential for lymph node or distant metastasis. Owing to their rarity, there are limited genomic data on FLSCCs. In this study, we analysed the clinicopathological features and molecular characteristics of four FLSCCs to elucidate the pathogenesis of these rare tumours.

Methods and results Four pure FLSCCs were sequenced by DIAN (Hangzhou Lab) using a 324-gene platform (FoundationOne CDx) with licensed technologies. The results showed that most FLSCCs harboured the pathogenic H1047R mutation in PIK3CA (3/4, 75%) and the −124C>T mutation in the telomerase reverse transcriptase (TERT) promoter (3/4, 75%). No copy number variations were observed in any cases in our study.

Conclusions Our study showed that PIK3CA and TERT promoter mutations were common genetic features of FLSCCs. These findings contribute to our understanding of FLSCCs biology.

  • breast neoplasms
  • genetics
  • pathology
  • molecular

Data availability statement

Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplemental information. With the permission of the corresponding author whose email address is yangwt2000@163.com, the original data can be reused.

https://doi.org/10.1136/jclinpath-2020-207071

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    Data availability statement

    Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplemental information. With the permission of the corresponding author whose email address is yangwt2000@163.com, the original data can be reused.

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    Footnotes

    • Handling editor Runjan Chetty.

    • SZ and SZ contributed equally.

    • Contributors SiZ and SlZ made equal contributions to this article and they are co-first authors.

    • Funding This work was supported by a grant from the Shanghai Municipal Science and Technology Commission (#18ZR1407600 to WY).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.