Skip to main content

Advertisement

SpringerLink
Log in

Intraarticular nodular fasciitis—detection of USP6 gene fusions in three cases by targeted RNA sequencing

  • Original Article
  • Published:
Virchows Archiv Aims and scope Submit manuscript

Abstract

Intraarticular nodular fasciitis arising in the joint synovium is an uncommon lesion. Most cases have been reported in the knee and rarely in other joints. A USP6 gene fusion has so far been documented in only four cases of intraarticular nodular fasciitis, three were located in the knee and one in the proximal interphalangeal joint. In all three cases located in the knee, MYH9 was detected as a USP6 fusion partner. We analysed three cases of intraarticular nodular fasciitis for the presence of USP6 fusion by targeted RNA sequencing. Two cases were located in the hip (a 25-year-old female and 48-year-old male) and one in the shoulder (a 38-year-old male). We detected a MYH9-USP6 fusion in the two hip cases and a COL1A1-USP6 fusion in the shoulder case. Our findings provide additional evidence that intraarticular nodular fasciitis is a form of nodular fasciitis arising in the joint synovium, harbouring a USP6 fusion. Although a MYH9-USP6 fusion seems to predominate in intraarticular nodular fasciitis, other fusion partners of the USP6 gene may also be involved. Detection of a USP6 fusion by targeted RNA sequencing may assist in confirming the diagnosis in selected cases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Data availability

All data generated or analysed during this study are included in this published article.

References

  1. Hornick JL, Fletcher CD (2006) Intraarticular nodular fasciitis—a rare lesion: clinicopathologic analysis of a series. Am J Surg Pathol 30:237–241. https://doi.org/10.1097/01.pas.0000180441.48904.50

    Article  PubMed  Google Scholar 

  2. Oliveira AM, Wang J, Wang WL (2020) Nodular fasciitis. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours, 5th edn. International Agency for Research on Cancer, France, pp 49–50

    Google Scholar 

  3. Amary MF, Ye H, Berisha F, Tirabosco R, Presneau N, Flanagan AM (2013) Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool. Virchows Arch 463:97–98. https://doi.org/10.1007/s00428-013-1418-0

    Article  PubMed  Google Scholar 

  4. Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L, Ye Y, Lau AW, Wang X, Oliveira AM (2011) Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Investig 91:1427–1433. https://doi.org/10.1038/labinvest.2011.118

    Article  CAS  PubMed  Google Scholar 

  5. Patel NR, Chrisinger JSA, Demicco EG, Sarabia SF, Reuther J, Kumar E, Oliveira AM, Billings SD, Bovée JVMG, Roy A, Lazar AJ, Lopez-Terrada DH, Wang WL (2017) USP6 activation in nodular fasciitis by promoter-swapping gene fusions. Mod Pathol 30:1577–1588. https://doi.org/10.1038/modpathol.2017.78

    Article  CAS  PubMed  Google Scholar 

  6. Hiemcke-Jiwa LS, van Gorp JM, Fisher C, Creytens D, van Diest PJ, Flucke U (2020) USP6-associated neoplasms: a rapidly expanding family of lesions. Int J Surg Pathol 28:816–825. https://doi.org/10.1177/1066896920938878

    Article  PubMed  Google Scholar 

  7. Lam SW, Cleton-Jansen AM, Cleven AHG, Ruano D, van Wezel T, Szuhai K, Bovée JVMG (2018) Molecular analysis of gene fusions in bone and soft tissue tumors by anchored multiplex PCR-based targeted next-generation sequencing. J Mol Diagn 20:653–663. https://doi.org/10.1016/j.jmoldx.2018.05.007

    Article  CAS  PubMed  Google Scholar 

  8. Van Royen C, Wackens G, Goossens A (1993) Nodular fasciitis in a temporomandibular joint. Int J Oral Maxillofac Surg 22:168–170. https://doi.org/10.1016/s0901-5027(05)80245-0

    Article  PubMed  Google Scholar 

  9. Soejima T, Murakami H, Tanaka N, Sato K, Nagata K, Sugita Y (2003) Fasciitis-like proliferation in the knee joint. Arthroscopy 19:E33. https://doi.org/10.1053/jars.2003.50122, 1, 4

  10. Yamamoto T, Nagira K, Noda M, Kurosaka M (2001) Intra-articular nodular fasciitis. Arthroscopy 17:E38. https://doi.org/10.1053/jars.2001.26919, 1, 4

  11. Matsuzaki T, Akisue T, Kishimoto K, Kishimoto S, Imabori M, Hara H, Okada Y, Hitora T, Kuroda R, Kurosaka M, Yamamoto T (2012) Intra-articular nodular fasciitis of the knee: a rare cause of recurrent hemarthrosis. Reumathol Int 32:1691–1694. https://doi.org/10.1007/s00296-011-1861-7

    Article  Google Scholar 

  12. Harish S, Kuruvilla M, Alowami S, DeNardi F, Ghert M (2011) Intra-articular nodular fasciitis of the shoulder: a case report and review of the literature. Skelet Radiol 40:1383–1386. https://doi.org/10.1007/s00256-011-1182-7

    Article  Google Scholar 

  13. Lädermann A, Kindynis P, Taylor S, Ceroni D, Hoffmeyer P, Kaelin A, Resnick D (2008) Articular nodular fasciitis in the glenohumeral joint. Skelet Radiol 37:663–666. https://doi.org/10.1007/s00256-008-0457-0

    Article  Google Scholar 

  14. Hagino T, Ochiai S, Sato E, Watanabe Y, Senga S, Kondo T, Haro H (2010) Intraarticular nodular fasciitis causing limitation of knee extension: a case report. Knee 17:424–427. https://doi.org/10.1016/j.knee.2009.11.002

    Article  PubMed  Google Scholar 

  15. Choughri H, Coindre J-M, Leclère FM (2019) Intra-articular nodular fasciitis of the proximal interphalangeal joint of a finger: a case report. Hand Surg Rehabil 38:74–78. https://doi.org/10.1016/j.hansur.2018.09.004

    Article  CAS  PubMed  Google Scholar 

  16. Nakamura O, Kaji Y, Yamagami Y, Yamamoto T (2019) A case of intra-articular fasciitis in the elbow joint. Int J Surg Case Rep 59:156–160. https://doi.org/10.1016/j.ijscr.2019.05.024

    Article  PubMed  PubMed Central  Google Scholar 

  17. Wang W, Huang Y, Wang C, Hong J, Ma C, Lin N, Ye Z, Yan S, Wu H (2019) Intra-articular nodular fasciitis: a rare lesion case report and an updated review of the literature. BMC Musculoskelet Disord 20:5. https://doi.org/10.1186/s12891-018-2375-1

    Article  PubMed  PubMed Central  Google Scholar 

  18. Miyama A, Kuratsu S, Takenaka S, Yoshimura M, Yoneda G, Yamada Y, Oda Y (2019) Two case reports of intra-articular nodular fasciitis of the knee confirmed by MYH9-USP6 gene fusion expression. J Orthop Sci S0949-2658(18):30379–30378. https://doi.org/10.1016/j.jos.2018.12.008

    Article  Google Scholar 

  19. Stražar K, Drobnič M, Zupanc O, Jović M, Pižem J (2013) Intraarticular nodular fasciitis of the hip. Arch Orthop Trauma Surg 133:537–540. https://doi.org/10.1007/s00402-013-1682-0

    Article  PubMed  Google Scholar 

  20. Igrec J, Brčić I, Igrec R, Bergovec M, Kashofer K, Fuchsjäger M, Leithner A, Liegl-Atzwanger B (2020) Intraarticular nodular fasciitis of the knee with MHY9-USP6 fusion: a case report. Int J Surg Pathol 28:672–677. https://doi.org/10.1177/1066896920908054

    Article  PubMed  Google Scholar 

  21. Nishioka N, Kamishima T, Masuko T, Kubota KC, Komatsu M, Iwasaki N, Nojima T, Itoh T, Harris AA, Minami A, Shirato H (2009) Intra-articular nodular fasciitis in the elbow joint, with an emphasis on MR imaging findings. European Journal of Radiology Extra 69:e33–e36. https://doi.org/10.1016/j.ejrex.2008.06.028

    Article  Google Scholar 

  22. Ko PY, Huang MT, Song HL, Lin MCJ (2013) Intra-articular nodular fasciitis of the knee in a 4-year-old girl: a case report and review of the literature. J Pediatr Orthop B 22:350–352. https://doi.org/10.1097/BPB.0b013e328356379f

    Article  PubMed  Google Scholar 

  23. Gans I, Morrison MJ 3rd, Chikwava KR, Wells L (2014) Intra-articular nodular fasciitis of the knee in a pediatric patient. Orthopedics 37:e313–e316. https://doi.org/10.3928/01477447-20140225-67

    Article  PubMed  Google Scholar 

  24. Chan MF, Ong KO, Foo SS, Selvarajan S (2014) Intra-articular nodular fasciitis: an unexpected diagnosis for a joint lesion: a case report. Malays Orthop J 8:63–65. https://doi.org/10.5704/MOJ.1407.013

    Article  PubMed  PubMed Central  Google Scholar 

  25. Tajima S, Zuki T, Koda K (2015) Articular nodular fasciitis of the right shoulder joint: report of an unusual case with focus on immunohistochemical differential diagnosis. Int J Clin Exp Pathol 8:4242–4247 eCollection 2015

    PubMed  PubMed Central  Google Scholar 

  26. Suzuki K, Yasuda T, Suzawa S, Watanabe K, Kanamori M, Kimura T (2017) Fibroma of tendon sheath around large joints: clinical characteristics and literature review. BMC Musculoskelet Disord 18:376. https://doi.org/10.1186/s12891-017-1736-5

    Article  PubMed  PubMed Central  Google Scholar 

  27. Šekoranja D, Zupan A, Mavčič B, Martinčič D, Salapura V, Snoj Ž, Limpel Novak AK, Pižem J (2020) Novel ASAP1-USP6, FAT1-USP6, SAR1A-USP6, and TNC-USP6 fusions in primary aneurysmal bone cyst. Genes Chromosomes Cancer 59:357–365. https://doi.org/10.1002/gcc.22836

    Article  CAS  PubMed  Google Scholar 

  28. Šekoranja D, Boštjančič E, Salapura V, Mavčič B, Pižem J (2018) Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing. Cancer Genet 228-229:12–16. https://doi.org/10.1016/j.cancergen.2018.07.001

    Article  CAS  PubMed  Google Scholar 

  29. Švajdler M, Michal M, Martínek P, Ptáková N, Kinkor Z, Szépe P, Švajdler P, Mezencev R, Michal M (2019) Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases. Hum Pathol 88:39–47. https://doi.org/10.1016/j.humpath.2019.02.009

    Article  PubMed  Google Scholar 

  30. Song W, Suurmeijer AJH, Bollen SM, Cleton-Jansen AM, Bovée JVMG, Kroon HM (2019) Soft tissue aneurysmal bone cyst: six new cases with imaging details, molecular pathology, and review of the literature. Skelet Radiol 48:1059–1067. https://doi.org/10.1007/s00256-018-3135-x

    Article  Google Scholar 

  31. Mantilla JG, Gross JM, Liu YJ, Hoch BL, Ricciotti RW (2020) Characterization of novel USP6 gene rearrangements in a subset of so-called cellular fibroma of tendon sheath. Mod Pathol. https://doi.org/10.1038/s41379-020-0621-1

  32. Snoj Ž, Pižem J, Salapura V (2016) Sudden onset of severe anterior knee pain and knee locking during sleep. Skelet Radiol 45(407–408):431–432. https://doi.org/10.1007/s00256-015-2287-1

    Article  Google Scholar 

Download references

Acknowledgements

The authors acknowledge the financial support from the Slovenian Research Agency (research core funding No. P3-0054).

Funding

This work was supported by the Slovenian Research Agency (research core funding No. P3-0054).

Author information

Authors and Affiliations

  1. Department of Orthopedic Surgery, University Medical Centre Ljubljana, Zaloška 9, 1000, Ljubljana, Slovenia

    Klemen Stražar & David Martinčič

  2. Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000, Ljubljana, Slovenia

    Klemen Stražar, Žiga Snoj & David Martinčič

  3. Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000, Ljubljana, Slovenia

    Daja Šekoranja, Alenka Matjašič, Andrej Zupan & Jože Pižem

  4. Institute of Radiology, University Medical Center Ljubljana, Zaloška 7, 1000, Ljubljana, Slovenia

    Žiga Snoj

Authors
  1. Klemen Stražar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Daja Šekoranja
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Alenka Matjašič
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Andrej Zupan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Žiga Snoj
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. David Martinčič
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jože Pižem
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

JP conceived and supervised the study. KS, DŠ, AM, ŽS and JP wrote the paper with the input from other co-authors. AM, AZ, ŽS and JP carried out the investigations. KS, ŽS, DM and JP collected the data.

Corresponding author

Correspondence to Jože Pižem.

Ethics declarations

The study was approved by the Review Board of the Institute of Pathology, Faculty of Medicine, University of Ljubljana (ID 3/20).

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Stražar, K., Šekoranja, D., Matjašič, A. et al. Intraarticular nodular fasciitis—detection of USP6 gene fusions in three cases by targeted RNA sequencing. Virchows Arch 478, 1117–1124 (2021). https://doi.org/10.1007/s00428-020-02991-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00428-020-02991-6

Keywords

Search

Navigation