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Case Report Open Access

Spindle cell sarcoma with KIAA1549‑BRAF resembling infantile fibrosarcoma morphologically: A case report and literature review

  • Authors:
    • Tomoko Fujikawa
    • Suguru Uemura
    • Makiko Yoshida
    • Sayaka Hyodo
    • Aiko Kozaki
    • Atsuro Saito
    • Kenji Kishimoto
    • Toshiaki Ishida
    • Takeshi Mori
    • Ayano Uematsu
    • Keiichi Morita
    • Tadashi Hatakeyama
    • Akihiro Tamura
    • Nobuyuki Yamamoto
    • Masato Komatsu
    • Toshinori Soejima
    • Daiichiro Hasegawa
    • Yoshiyuki Kosaka
  • View Affiliations / Copyright

    Affiliations: Department of Hematology and Oncology, Kobe Children's Hospital, Kobe, Hyogo 650‑0047, Japan, Department of Pathology, Kobe Children's Hospital, Kobe, Hyogo 650‑0047, Japan, Department of Surgery, Kobe Children's Hospital, Kobe, Hyogo 650‑0047, Japan, Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo 650‑0017, Japan, Department of Pathology, Kobe University Graduate School of Medicine, Kobe, Hyogo 650‑0017, Japan, Department of Radiation Oncology, Kobe Proton Center, Kobe, Hyogo 650‑0047, Japan
    Copyright: © Fujikawa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 452
    |
    Published online on: November 1, 2022
       https://doi.org/10.3892/ol.2022.13572
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Abstract

Infantile fibrosarcoma (IFS) commonly harbors ETS variant transcription factor 6 (ETV6)‑neurotrophic receptor tyrosine kinase 3 (NTRK3) fusion. However, the recent accessibility to clinical next‑generation sequencing (NGS) has revealed ETV6‑NTRK3 negative spindle cell sarcomas resembling IFS morphologically, involving NTRK1/2, MET, RET and BRAF. The present report describes a pediatric case of spindle cell sarcoma with KIAA1549‑BRAF resembling IFS morphologically. A 20‑month‑old female patient was referred to Kobe Children's Hospital (Kobe, Japan) for the treatment of intrathoracic spindle cell sarcoma. Pathologically, the intrathoracic tumor cells were composed of spindle cells with focal hemagiopericytomatous pattern. In immunohistochemistry analysis, the intrathoracic tumor cells focally expressed desmin and WT‑1 and were negative for pan‑tropomyosin receptor kinase (TRK), S‑100 and CD34. Fluorescence in situ hybridization analysis for ETV6 and capicua transcriptional repressor revealed negative split signals. Although the patient was initially diagnosed with IFS morphologically, KIAA1549‑BRAF fusion transcript was detected by comprehensive genomic profiling with NGS using intrathoracic tumor tissues and confirmed by reverse transcription‑PCR. Chemotherapy induced a reduction in the tumor size. At present, the patient is alive with the disease and has been receiving therapy for 8 months since the initiation of chemotherapy. Review of BRAF‑altered spindle cell sarcomas resembling IFS morphologically revealed the inconsistency in immunohistochemical expression patterns and the diversity of BRAF fusion genes and mutations. Therefore, the elucidation of genomic profiling by NGS may assist in making an appropriate diagnosis and selecting novel alternative therapies in ETV6‑NTRK3‑negative spindle cell sarcomas resembling IFS morphologically.
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Copy and paste a formatted citation
Spandidos Publications style
Fujikawa T, Uemura S, Yoshida M, Hyodo S, Kozaki A, Saito A, Kishimoto K, Ishida T, Mori T, Uematsu A, Uematsu A, et al: Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review. Oncol Lett 24: 452, 2022.
APA
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A. ... Kosaka, Y. (2022). Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review. Oncology Letters, 24, 452. https://doi.org/10.3892/ol.2022.13572
MLA
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A., Kishimoto, K., Ishida, T., Mori, T., Uematsu, A., Morita, K., Hatakeyama, T., Tamura, A., Yamamoto, N., Komatsu, M., Soejima, T., Hasegawa, D., Kosaka, Y."Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review". Oncology Letters 24.6 (2022): 452.
Chicago
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A., Kishimoto, K., Ishida, T., Mori, T., Uematsu, A., Morita, K., Hatakeyama, T., Tamura, A., Yamamoto, N., Komatsu, M., Soejima, T., Hasegawa, D., Kosaka, Y."Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review". Oncology Letters 24, no. 6 (2022): 452. https://doi.org/10.3892/ol.2022.13572
Copy and paste a formatted citation
x
Spandidos Publications style
Fujikawa T, Uemura S, Yoshida M, Hyodo S, Kozaki A, Saito A, Kishimoto K, Ishida T, Mori T, Uematsu A, Uematsu A, et al: Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review. Oncol Lett 24: 452, 2022.
APA
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A. ... Kosaka, Y. (2022). Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review. Oncology Letters, 24, 452. https://doi.org/10.3892/ol.2022.13572
MLA
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A., Kishimoto, K., Ishida, T., Mori, T., Uematsu, A., Morita, K., Hatakeyama, T., Tamura, A., Yamamoto, N., Komatsu, M., Soejima, T., Hasegawa, D., Kosaka, Y."Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review". Oncology Letters 24.6 (2022): 452.
Chicago
Fujikawa, T., Uemura, S., Yoshida, M., Hyodo, S., Kozaki, A., Saito, A., Kishimoto, K., Ishida, T., Mori, T., Uematsu, A., Morita, K., Hatakeyama, T., Tamura, A., Yamamoto, N., Komatsu, M., Soejima, T., Hasegawa, D., Kosaka, Y."Spindle cell sarcoma with <em>KIAA1549‑BRAF</em> resembling infantile fibrosarcoma morphologically: A case report and literature review". Oncology Letters 24, no. 6 (2022): 452. https://doi.org/10.3892/ol.2022.13572
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