2025 Clinician Corner - Rhabdomyosarcoma with TFCP2 rearrangement in a young adult: a rare case with unique clinical and pathological features

Abstract 

Spindle cell rhabdomyosarcoma, a rare subtype of adult soft tissue tumor, is characterized by specific histological and clinical features. This report presents a case of a 21-year-old woman with an intraosseous spindle cell rhabdomyosarcoma in the left frontal region, a less common location in adults. The rarity and atypical presentation of spindle cell rhabdomyosarcoma in adults highlight the importance of thorough histopathological examination and immunohistochemistry in diagnosis. This case emphasizes the complexity of managing such tumors, showcasing the combination of surgical and chemotherapeutic interventions.  

Keywords:  Malignant tumor; rhabdomyosarcoma; spindle cell

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Faculty credentials/disclosure 

The planners and faculty for this activity have no relevant financial relationships to disclose. The patient consented to the publication of this report.

Process

Click the "add to cart/begin" button, pay any relevant fee, take the quiz, complete the evaluation, and claim your CME credit.  You must achieve 100% on the quiz with unlimited attempts available.

  • By completing this process, you are attesting that you have read the journal article.

Expiration date:

Credit eligibility for this article is set to expire on November 1, 2026.

Learning Objectives

After completing the article, the learner should be able to:

  • Identify the histopathological and immunohistochemical markers crucial for the diagnosis of spindle cell rhabdomyosarcoma, such as desmin, MYOD1, myogenin, and ALK, and understand how these markers help differentiate spindle cell rhabdomyosarcoma from other tumor types, especially in atypical clinical presentations. 
  • Apply appropriate treatment protocols for spindle cell rhabdomyosarcoma, including the combination of surgical resection and chemotherapy (vincristine, Adriamycin, cyclophosphamide), and understand the challenges in treating this rare subtype of rhabdomyosarcoma in adults, particularly when the tumor occurs in unusual locations such as the frontal lobe and unusual origins such as soft tissue. 
  • Recognize the significance of genetic features like the FUS:TFCP2 fusion and how they influence the diagnosis and prognosis of spindle cell rhabdomyosarcoma, as well as the role of ALK positivity and its potential impact on treatment strategies and differential diagnoses. 

Key Points 

  • Spindle cell rhabdomyosarcoma is uncommon in adults, with this case highlighting an unusual presentation in the frontal lobe of a 21-year-old woman, emphasizing the unpredictability of its localization. 
  • Treatment follows standard rhabdomyosarcoma protocols, including chemotherapy with vincristine, Adriamycin, and cyclophosphamide. Given the rarity of adult cases, close monitoring is important to manage potential complications and recurrence. 
  • Accurate diagnosis of spindle cell rhabdomyosarcoma relies on histopathology and immunohistochemical markers including desmin, MYOD1, and myogenin, which indicate skeletal muscle differentiation, and molecular identification of the FUS::TFCP2 gene fusion, essential for distinguishing it from other tumors, especially with atypical clinical features. 

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Course summary
Available credit: 
  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 American Board of Surgery (ABS) Accredited CME
    Successful completion of this CME activity enables the learner to earn credit toward the CME requirement of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.
  • 1.00 AMA PRA Category 1 Credit™
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance
Course opens: 
11/01/2025
Course expires: 
11/01/2026
Cost:
$25.00
Rating: 
0
  • Hannah Chaudhury, BS - School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas, USA 
  • Nicholas Hancock, BS - School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas, USA 
  • Jorge Rodriguez Vazquez, MD - Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas, USA 
  • Dauod Arif, MD - Department of Pathology, Texas Tech University Health Sciences Center, Lubbock, Texas, USA 
  • Genevieve Lapointe, MD - Department of Neurosurgery, Texas Tech University Health Sciences Center, Lubbock, Texas, USA 
  • André M. Oliveira, MD, PhD, MS Econ - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA 

Corresponding author: Hannah Chaudhury, BSA, Texas Tech University Health Sciences Center, 3601 4th Street, Stop 9400, Lubbock, TX 79430-9400 (e-mail: [email protected]) 

Accreditation

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Designation

AMA PRA Category 1 Credit™

The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

ABS CC

Successful completion of this CME activity enables the learner to earn credit toward the CME requirement of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.

ABIM MOC

 Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.0 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

 

Available Credit

  • 1.00 American Board of Internal Medicine (ABIM) MOC Part 2
    Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.00 MOC points in the American Board of Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
  • 1.00 American Board of Surgery (ABS) Accredited CME
    Successful completion of this CME activity enables the learner to earn credit toward the CME requirement of the American Board of Surgery’s Continuous Certification program. It is the CME activity provider's responsibility to submit learner completion information to ACCME for the purpose of granting ABS credit.
  • 1.00 AMA PRA Category 1 Credit™
    The A. Webb Roberts Center for Continuing Medical Education of Baylor Scott & White Health is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
  • 1.00 Attendance

Price

Cost:
$25.00
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