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Rhabdomyosarcoma with unknown primary tumor site. A report from European Pediatric Soft Tissue Sarcoma Study Group (EpSSG)
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  • Maria Carmen Affinita,
  • Johannes Merks,
  • Julia Chisholm,
  • stephanie haouy,
  • Angélique Rome,
  • Marco Rabusin,
  • Bernadette Brennan,
  • Gianni Bisogno
Maria Carmen Affinita
University of Padua

Corresponding Author:draffinita@gmail.com

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Johannes Merks
Utrecht University
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Julia Chisholm
Royal Marsden Hospital
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stephanie haouy
University Hospital Centre Montpellier
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Angélique Rome
APHM
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Marco Rabusin
IRCCS Materno Infantile Burlo Garofolo
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Bernadette Brennan
Royal Manchester Children's Hospital, Manchester, United Kingdom.
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Gianni Bisogno
University of Padua
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Abstract

BACKGROUND: Rhabdomyosarcoma (RMS) is an aggressive malignancy, and 20% of children present with metastases at diagnosis. Patients presenting with disseminated disease very occasionally have no clear evidence of a primary tumor mass. Since these patients have rarely been investigated, we report on a series of patients with RMS and unknown primary tumor site registered in the MTS 2008 protocol (October 2008 - December 2016) coordinated by the European pediatric Soft tissue sarcoma Study Group. METHODS: Patients were administered 9 cycles of induction chemotherapy, and 48 weeks of maintenance chemotherapy. Surgery and/or radiotherapy was planned after the first assessment of tumor response, and implemented after six cycles of chemotherapy. If feasible, radiotherapy to all sites of metastasis was recommended. RESULTS: We identified 10 patients with RMS and unknown primary site, most of them adolescents (median age 15.8 years, range 4.6-20.4). Nine had fusion-positive alveolar RMS. Multiple organ involvement was identified in 7 patients, 2 only had bone marrow disease, and 1 only had leptomeningeal dissemination. All patients were given chemotherapy, 4 were irradiated, and none had surgery. Three patients underwent allogeneic bone marrow transplantation. At the time of this analysis, only 2 patients are alive in complete remission: 1 had received radiotherapy; and 1 had a bone marrow transplant. CONCLUSIONS: RMS with unknown primary tumor occurs mainly in adolescents and is typically fusion-positive alveolar. Radiotherapy may be important, but survival is poor and patients should be offered enrollment in investigational trials.
03 May 2022Submission Checks Completed
03 May 2022Assigned to Editor
03 May 2022Submitted to Pediatric Blood & Cancer
06 May 2022Reviewer(s) Assigned
18 May 2022Review(s) Completed, Editorial Evaluation Pending
23 May 2022Editorial Decision: Revise Minor
13 Jul 2022Submission Checks Completed
13 Jul 2022Assigned to Editor
13 Jul 20221st Revision Received
20 Jul 2022Reviewer(s) Assigned
25 Jul 2022Review(s) Completed, Editorial Evaluation Pending
05 Aug 2022Editorial Decision: Accept
12 Sep 2022Published in Pediatric Blood & Cancer. 10.1002/pbc.29967