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Year : 2022  |  Volume : 14  |  Issue : 2  |  Page : 172-175

Forearm rhabdomyosarcoma in neurofibromatosis type 1: A unique case

1 Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Punjab, India
2 Department of Orthopedics, NC Medical College, Panipat, Haryana, India

Correspondence Address:
Dr. Dheeraj Makkar
Flat No. 105, Doctors Quarters, NC Medical College, Panipat, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jotr.jotr_49_22

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Rhabdomyosarcoma (RMS) is the most common soft sarcoma in kids, with alveolar and embryonal variants distinguishable by histopathology and, more significantly, molecular biology. RMS occurs intermittently in a substantial proportion of cases without a predisposing condition. Nevertheless, it is well established that certain hereditary factors enhance the likelihood of developing RMS. Beckwith–Wiedemann syndrome, Gorlin syndrome, Costello syndrome, neurofibromatosis type 1 (NF1), and Li-Fraumeni syndromes are some of them. These syndromes present with RMS during childhood. A 47-year-old female with NF1 discovered a lump in her right forearm 1 year before presentation. When the patient noticed ulceration on the swelling, she sought medical attention. A tumor was detected in the center of the right forearm through magnetic resonance imaging, and it was suspected to be a cystic or myxoid soft-tissue tumor, RMS, or a peripheral neural tumor. We classified the tumor as stage IV due to axillary lymph node involvement and lung metastasis. Histopathology confirmed RMS. The patient then received radiotherapy and chemotherapy, and her tumor went into remission. After confirming NF1 syndrome, we advise patients to adhere to the standard cancer screening protocol. The screening would assist in the earlier diagnosis of tumors, leading to a reduction in complications.

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