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.
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http://dx.doi.org/10.1007/s00428-020-02991-6 | DOI Listing |
J Orthop Case Rep
January 2025
Department of Orthopaedic Surgery, Maulana Azad Medical College, Bahadur Shah Marg, New Delhi, India.
Introduction: Tumoral calcinosis is a rare hereditary condition characterized by the deposition of calcium phosphate and hydroxyapatite in periarticular soft tissues. First described by Giard and Duret in 1898 and later detailed by Inclan in 1943, this condition has often been confused with other forms of periarticular calcification. Tumoral calcinosis predominantly affects young males and is typically found around major joints, such as the shoulder, elbow, hip, ankle, and wrist.
View Article and Find Full Text PDFInt J Surg Pathol
December 2024
Department of Orthopedics, Osaka General Medical Center, Osaka, Japan.
Nodular fasciitis is a benign, usually self-limiting myofibroblastic proliferation with a predilection for the upper extremities, trunk, and head and neck, and almost all of which harbor the fusion. Since nodular fasciitis is not widely recognized to arise within the joints, it may therefore cause diagnostic confusion in this uncommon setting. We report an unusual tumor of an 11-year-old patient who presented with a 6-month history of right elbow swelling and pain.
View Article and Find Full Text PDFCureus
August 2024
Orthopaedics, Dr. D.Y Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Introduction: Nodular fasciitis is a rare, benign soft tissue lesion that can prove to be difficult to diagnose, especially when intra-articular.
Case Presentation: A 17-year-old female softball player presents with several year history of right knee pain and swelling initially attributed to patellar maltracking refractory to non-operative and operative management.
Management And Outcomes: Initial pathology suggested tenosynovial giant cell tumor; however, further tissue diagnosis revealed nodular fasciitis, which was eventually resected.
Skeletal Radiol
September 2024
Douglass Hanly Moir Pathology, 14 Giffnock Avenue, Macquarie Park, NSW, 2113, Australia.
Intra-articular tumours are uncommonly encountered in routine practice and may present diagnostic challenges to pathologists. Challenges unique to this site include distinction from more common reactive synovial conditions, which are far more common; histologic variability; superimposed reactive changes; and often, lack of provided clinicoradiological context. This article reviews the pathology of the synovial tumours and tumour-like lesions, including diagnostic pearls, pitfalls and rare entities.
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