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Adolescent & Young Adult Sarcomas

(P 12) MULTIFOCAL AND DISSEMINATED SPORADIC DESMOID TUMOUR OF THE EXTREMITIES: A SPECIAL CHALLENGE

Location: The Liffey, Level 1

    Author(s)

  • Franka Menge

    Dr.
    Sarcoma Unit, Department of Surgery and Mannheim Cancer Center, University Medical Center Mannheim, University of Heidelberg, Mannheim,Germany
    Mannheim, Baden-Wurttemberg, Germany

    • Co-Author(s)

  • PH

    Peter Hohenberger, N/A, n/a

    Sarcoma Unit, Department of Surgery and Mannheim Cancer Center, University Medical Center Mannheim, University of Heidelberg, Mannheim,Germany
    Mannheim, Baden-Wurttemberg, Germany

  • Bernd Kasper, MD, PhD (he/him/his)

    Professor
    University of Heidelberg, Mannheim University Medical Center
    Mannheim, Baden-Wurttemberg, Germany

  • Eva Wardelmann, MD (she/her/hers)

    chair
    Institute of Pathology,.University Hospital Muenster
    Muenster, Nordrhein-Westfalen, Germany

  • FH

    Florian Haller, N/A, n/a

    Department of Pathology Friedrich- Alexander- Universität Erlangen-Nürnberg, Erlangen
    Erlangen, Bayern, Germany

  • Jens Jakob, MD (he/him/his)

    Prof.,
    University Medical Center Mannheim, University of Heidelberg
    Mannheim, Baden-Wurttemberg, Germany

Objective: Desmoid tumour (DT) (aggressive fibromatosis) is a rare, non-metastatic but often locally aggressive tumour. DT mainly occur in young adults during the time of settlement, starting professional career and having family plans. Most DT exhibit a diffuse, but unifocal growth pattern. Some DT grow multifocal or disseminated which makes treatment even more challenging. Scant knowledge exists about the mechanism and impulsion of this scattered growth or the adequate therapy for these pts. Here we describe the clinical course and treatment of a series of 13 patients with multifocal/ disseminated DT.

Methods: From our prospective kept database with 392 females and 179 males we could identify 502 pts with a sporadic desmoid tumour. 13 (1,4%) patients suffered from a multifocal/ disseminated disease

Results: 11/13 pts. were female. The mean age was 32 years at time of diagnosis. Only 1 of 13 DT was located at the upper arm, 12 at the leg/ gluteal and 3 DT involved the small pelvis. In 5 (39%) pts the DT was multifocal/disseminated at time of diagnosis, while in 7 (54%) pts a spread of the disease occurred after surgery (1 pt. unknown). In 12 pts. a CTNNB1 mutation analysis was done and revealed a typical CTNNB1 mutation in all cases, confirming the diagnosis of sporadic DT (4 pts T41A, 7 pts S45F, 1 pt S45P). The maximum number of different treatments was 8 (with an average of 4,1). 11/13 (85%) pts had at least one receptor tyrosine kinase inhibitor (RTKI) as systemic treatment. 11/13 pts had at least one operation and 7/13 (54%) a radiotherapy with a dose of up to 60Gy. Only 1 pt. suffers from minor burden while the rest is significantly limited in the daily routine and spare time due to ongoing pain (13/13 pts. 100%), contracture (3/13 pts. 23%) or difficulty while sitting and walking (11/13 pts. 85%). Mean time of follow up is 11 yrs. (3-17yrs). 6 pts. are currently in stable disease.

Conclusion: Multifocal and disseminated DT is rare in patients with sporadic DT -however, disease burden is high with almost all patients suffering from chronic pain and relevant limitations in mobility. A multifocal growth pattern may be associated with previous resections but also occurs in previously untreated cases. The mechanism of spreading is still unknown. No standard treatments are available, most patients in our cohort received systemic treatment with RTKI to achieve local control.