FOXO1-negative alveolar rhabdomyosarcoma: a case report of a rare tumor

Cover Page

Cite item

Full Text

Abstract

The results of modern research confirm the importance of an accurate assessment of the molecular pathogenesis of soft tissue tumors. The use of next-generation sequencing can be effective both for finding targets for targeted therapy and predicting aggressive behavior of tumors, and for clarifying the diagnosis in non-standard cases. Here, we report a case of FOXO1-negative alveolar rhabdomyosarcoma in a 3-year-old child. To verify the diagnosis of this patient, we used high-throughput sequencing. Using the Trusight Tumor 170 gene panel (Illumina, USA), we carried out molecular genetic testing of the patient’s tumor sample and discovered a rare NZD1-FGFR4 translocation that had not been previously reported to occur in alveolar rhabdomyosarcoma. The patient’s parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

About the authors

V. D. Belobokova

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

Author for correspondence.
Email: belobokova.victoria@gmail.com

Victoria D. Belobokova, a researcher at the Laboratory of Molecular Genetic Research

Borovlyany, Minsk Region

Belarus

K. O. Kalchenko

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

Borovlyany, Minsk Region

Belarus

T. M. Mikhaleuskaya

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

ORCID iD: 0000-0002-7134-8923

Borovlyany, Minsk Region

Belarus

D. V. Kochubinsky

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

Borovlyany, Minsk Region

Belarus

M. V. Belevtsev

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

Borovlyany, Minsk Region

Belarus

L. P. Kisialeu

Belarusian Research Center for Pediatric Oncology, Hematology and Immunology

ORCID iD: 0000-0003-2071-8143

Borovlyany, Minsk Region

Belarus

References

  1. Qualman S., Lynch J., Bridge J., Parham D., Teot L., Meyer W., Pappo A. Prevalence and clinical impact of anaplasia in childhood rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group. Cancer 2008; 113 (11): 3242–7.
  2. Arnold M.A., Anderson J.R., Gastier-Foster J.M., Barr F.G., Skapek S.X., Hawkins D.S., et al. Histology, Fusion Status, and Outcome in Alveolar Rhabdomyosarcoma With Low-Risk Clinical Features: A Report From the Children's Oncology Group. Pediatr Blood Cancer 2016; 63 (4): 634–9.
  3. Parham D.M., Qualman S.J., Teot L., Barr F.G., Morotti R., Sorensen P.H.B., et al. Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. Am J Surg Pathol 2007; 31 (6): 895–901.
  4. Qin A., Johnson A., Ross J., Miller V.A., Ali S.M., Schrock A.B., Gadgeel S.M. Detection of known and novel FGFR fusions in non–small cell lung cancer by comprehensive genomic profiling. J Thorac Oncol 2018; 14 (1): 54–62.
  5. Seki М., Nishimura R., Yoshida K., Shimamura Т., Shiraishi Y., Sato Y., et al. Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma. Nat Commun 2015; 6: 7557.
  6. Li S.Q., Cheuk A.T., Shern J.F., Song Y.K., Hurd L., Liao H., et al. Targeting Wild-Type and Mutationally Activated FGFR4 in Rhabdomyosarcoma with the Inhibitor Ponatinib. PLoS One 2013; 8 (10): e76551.
  7. Chen X., Stewart E., Shelat A., Qu C., Bahrami А., Hatley М., et al. Targeting Oxidative Stress in Embryonal Rhabdomyosarcoma. Cancer Cell 2013; 24 (6): 710–24.
  8. Wang G.G., Cai L., Pasillas M.P., Kamps M.P. NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis. Nat Cell Biol 2007; 9: 804–12.
  9. Zhao Q., Caballero O.L., Levy S., Stevenson B.J., Iseli C., de Souza S.J., et al. Transcriptome-guided characterization of genomic rearrangements in a breast cancer cell line. Proc Natl Acad Sci U S А 2009; 106: 1886–91.
  10. Baujat G., Rio M., Rossignol S., Sanlaville D., Lyonnet S., Le Merrer M., et al. Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome. Am J Hum Genet 2004; 74 (4): 715–20.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2022 Belobokova V.D., Kalchenko K.O., Mikhaleuskaya T.M., Kochubinsky D.V., Belevtsev M.V., Kisialeu L.P.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.