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Case Reports
. 2025 Apr 28;38(6):950-954.
doi: 10.1080/08998280.2025.2495496. eCollection 2025.

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

Hannah Chaudhury  1 , Nicholas Hancock  1 , Jorge Rodriguez Vazquez  2 , Dauod Arif  3 , Genevieve Lapointe  4 , André M Oliveira  5
Affiliations
Case Reports

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

Hannah Chaudhury et al. Proc (Bayl Univ Med Cent). .

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.

Plain language summary

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.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.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.

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Conflict of interest statement

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

Figures

Figure 1.
Figure 1.
(a) CT scan showing a 3.2 x 2.3 x 2.9 cm mass extending from the subcutaneous tissue through the bone intracranially. (b) MRI showing the growth of the mass size. (c) Angiogram indicating hypervascularity of the mass.
Figure 2.
Figure 2.
(a) Spindle cell rhabdomyosarcoma (5×). Fascicles of spindle cells with a herringbone growth and pseudovascular pattern. (b) Spindle cell rhabdomyosarcoma (20×). Hyperchromatic nuclei, few rhabdomyoblasts, frequent mitosis, and necrosis. (c) Immunohistochemistry staining positive for MYOD1. (d) Immunohistochemistry staining positive for ALK.
Figure 3.
Figure 3.
CT showing (a) hypodense region and (b) intracranial bleeding.
See this image and copyright information in PMC

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