TFCP2 Fusion-Positive Rhabdomyosarcomas: A Report of 10 Cases and a Review of the Literature

Figures

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  Figure 1. Pathologic features of TFCP2 fusion sarcomas. (A) Representative H&E image of a TFCP2 fusion-positive spindle cell/sclerosing rhabdomyosarcoma. (B–D) Representative images of immunohistochemical staining for MyoD1 (B), desmin (C), and ALK (D). Scale bars = 100 μm.

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  Figure 2. Clinical and pathologic characteristics of TFCP2 fusion sarcomas. (A) Percent of patients with each of the two TFCP2 fusions, either FUS-TFCP2 or EWSR1-TFCP2. (B) Breakdown of the site of disease. (C) Distribution of the age at diagnosis. (D) Distribution of the size of the sarcoma at diagnosis. In (C,D), bars represent means ± standard deviations, and each black dot represents a different patient. (E–I) Percent of tumors that stained positive for ALK (E), cytokeratins (F), desmin (G), MyoD1 (H), and myogenin (I). (J) Disease stage at diagnosis. The numbers on top of the bars indicate the absolute number of patients represented by the bar.

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  Figure 3. Patients with TFCP2 fusion sarcomas. (A) Patient 1, CT (left) and MRI (right) images from initial diagnosis showing left frontal bone tumor. (B) Patient 2, MRI demonstrating involvement of the right IJV and right ICA and extension into the posterior cranial fossa. (C) Patient 3, CT images at the time of diagnosis showing presumed primary tumor in right acetabulum (left), additional diffuse spinal metastases (middle), and diffuse hepatic metastases (right). (D) Patient 4, PET/CT showing primary FDG-avid mass of the hard palate at the time of diagnosis (left) and an image of the patient after development of recurrent disease (right). (E) Patient 5, CT images showing large tumor in axial (left), coronal (middle), and sagittal (right) planes. (F) Patient 6, sagittal (left) and coronal and sagittal (right) MRI images showing mass arising from C1. (G) Patient 7, axial and sagittal MRI images of mass arising from C7. (H) Patient 8, CT images of mass arising in right alveolar ridge in bone window (left, middle) and lymphadenopathy in soft tissue window (right). (I) Patient 9, CT at time of diagnosis (left) and local recurrence after surgery (right) with cervical lymphadenopathy…

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  Figure 4. Treatment of TFCP2 fusion sarcomas. Swimmer’s plot showing timeline of indicated treatments for 9 out of 10 patients for which treatment data were available. Time 0 is the date of diagnosis. VAC = vincristine, actinomycin, and cyclophosphamide. VAI = vincristine, doxorubicin, and ifosfamide. VDC = vincristine, doxorubicin, and cyclophosphamide. VI = vincristine and ifosfamide. VIT = vincristine, ifosfamide, and temozolomide.

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  Figure 5. Survival outcomes in TFCP2 fusion sarcomas. (A) Overall survival of the patients with available treatment data (n = 9). (B) Recurrence-free survival was calculated in patients with initially localized disease from the date of histologic diagnosis to the date of recurrence, death, or the latest follow-up (n = 6). (C) Progression-free survival of the patients with available treatment data was calculated from the start of systemic therapy for recurrent or metastatic disease to the date of progression, death, or the latest follow-up (n = 9).

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  Figure 6. Summary of 53 cases of TFCP2 fusion sarcomas in the literature. (A) Percent of patients with each of the two TFCP2 fusions, either FUS-TFCP2 or EWSR1-TFCP2. (B) Breakdown of the site of disease. (C) Distribution of the age at diagnosis. (D) Distribution of the size of the sarcoma at diagnosis. In (C,D), bars represent means ± standard deviations, and each black dot represents a different patient. (E) Overall survival of the cohort (n = 43). (F) Recurrence-free survival was calculated in patients with initially localized disease from the date of histologic diagnosis to the date of recurrence, death, or the latest follow-up (n = 17). (G) Progression-free survival of the cohort was calculated from the start of systemic therapy for recurrent or metastatic disease to the date of progression, death, or the latest follow-up (n = 25).