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27.04.2021 | short report Open Access

Rhabdomyosarcoma and pleomorphic sarcoma in the same location

Recurrence or new entity?

Wiener klinische Wochenschrift
Daniel Steiner, MD Maria Anna Smolle, MD Iva Brcic, MD Prof. Andreas Leithner
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Soft tissue sarcomas (STS) represent a small group of adult solid malignancies, with risk factors such as environmental factors, genetic predisposition, and prior radiotherapy. In STS patients with a novel swelling, differential diagnoses include recurrence, second primary cancer, metastasis from unknown primary cancer, and radiation-associated STS, the latter usually occurring approximately 10 years after radiotherapy. We present the case of a 64-year-old male patient with pleomorphic rhabdomyosarcoma, who underwent resection and radiotherapy. The patient presented again 5 years later with painful swelling in the area of the prior sarcoma, raising suspicion of recurrence. Resection was performed and a diagnosis of pleomorphic sarcoma (not otherwise specified [NOS]) was made. The patient was treated with radiotherapy and remained sarcoma-free for the following 7 years. A molecular analysis of both neoplasms, using RNA next-generation sequencing, did not detect any specific fusions. Due to the lack of rhabdomyoblastic differentiation in the second sarcoma and the low likelihood of a second primary in the same previously irradiated location, the diagnosis of a radiation-associated STS was suggested. This short report illustrates the difficult diagnostic work-up of a presumably radiation-associated STS, as these neoplasms lack characteristic morphological and immunohistochemical features. In our case, the suggested diagnosis may have pointed against another course of radiotherapy in an already irradiation-harmed region. Therefore, a relatively low latency period between surgery, radiotherapy, and diagnosis of another STS should not automatically point towards recurrence and may prompt further in-depth investigation.

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