Successful targeted therapy in a patient with transformation of a BRAF-mutated ameloblastoma into an undifferentiated round-cell sarcoma
https://doi.org/10.17650/2311-1267-2018-5-4-86-93
Abstract
The article describes a clinical case of a patient aged 15 years with a sequential transformation of the ameloblastoma of the upper jaw into ameloblastic fibrosarcoma and undifferentiated round-cell sarcoma as a result of frequent relapses against the background of standard anticancer treatment. This clinical example is of interest not only because of the preservation of the mutation in the BRAF gene at all stages of transformation, which made it possible to conduct successful therapy with BRAF and MEK inhibitors after the exhaustion of all standard therapeutic possibilities.
Conflict of interest. The authors declare no conflict of interest.
Funding. The study was performed without external funding
About the Authors
G. B. SagoyanRussian Federation
Pediatric Oncologist Department of Clinical Oncology
Yu. M. Mareeva
Russian Federation
Pediatric Oncologist of Advisory Department
V. Yu. Roshchin
Russian Federation
Pathologist Department of Pathological Anatomy
N. S. Grachev
Russian Federation
Cand. of Sci. (Med.), Head of the Department of Oncology and Pediatric Surgery, Deputy Director of the Institute of Oncology, Radiology and Nuclear Medicine
D. M. Konovalov
Russian Federation
Cand. of Sci. (Med.), Head of the Department of Pathological Anatomy
A. E. Druy
Russian Federation
Cand. of Sci. (Med.), Doctor of the Laboratory of Cytogenetics and Molecular Genetics
V. P. Bondarenko
Russian Federation
Doctor of the Radiology Department
M. A. Alekseev
Russian Federation
Doctor of Hematology/Oncology and Neuro-Oncology Department
G. S. Ovsyannikova
Russian Federation
Short Term Hospital Doctor
D. V. Litvinov
Russian Federation
Cand. of Sci. (Med.), Head of the Hematology/Oncology and Neuro-Oncology Department, Head Doctor
N. V. Zhukov
Russian Federation
Dr. of Sci. (Med.), Professor, Head of Multidisciplinary Oncology Department
ResearcherID: I-3833-2018, SPIN-code: 8151-9305
References
1. Adekeye E.O., Lavery K.M. Recurrent ameloblastoma of the maxillofacial region. Clinical features and treatment. J Maxillofac Surg 1986;14:153–7. PMID: 3459793.
2. Hayashi N., Iwata J., Masaoka N., Ueno H., Ohtsuki Y., Moriki T. Ameloblastoma of the mandible metastasizing to the orbit with malignant transformation. A histopathological and immunohistochemical study. Virchows Arch 1997;430(6):501–7. PMID: 9230916.
3. Kessler H.P. Intraosseous ameloblastoma. Oral Maxillofac Surg Clin North Am 2004;16(3):309–22. doi: 10.1016/j.coms.2004.03.001.
4. Sweeney R.T., Clary A.C., Myers B.R., Biscocho J., Neahring L., Kwei K.A., Qu K., Gong X., Ng T., Jones C.D., Varma S., Odegaard J.I., Sugiyama T., Koyota S., Rubin B.P., Troxell M.L., Pelham R.J., Zehnder J.L., Beachy P.A., Pollack J.R., West R.B. Identifi cation of recurrent SMO and BRAF mutations in ameloblastomas. Nat Genet 2014;46:722–5. doi: 10.1038/ng.2986.
5. Shaikhi K., Neiders M., Chen F., Aguirre A. Morphological variants of ameloblastoma and their mimickers. NAJ Med Sci 2012;5(1):20–8. doi: 10.7156/v5i1p020.
6. Rais R., El-Mofty S.K. Malignant Transformation of a Desmoplastic Ameloblastoma to Squamous Cell Carcinoma: A Case Report. Head and Neck Pathol 2018. [Epub ahead of print]. doi: 10.1007/s12105-018-0946-y.
7. Nobusawa A., Sano T., Yokoo S., Oyama T. Ameloblastic carcinoma developing in preexisting ameloblastoma with a mutation of the p53 gene: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol 2014;118(5):e146–50. doi: 10.1016/j.oooo.2014.03.02112.
8. Brown N.A., Rolland D.C., McHugh J.B. Weigelin H.C., Zhao L., Lim M.S., Elenitoba-Johnson K.S., Betz B.L. Activating FGFR2- RASBRAF mutations in ameloblastoma. Clin Cancer Res 2014;20:5517–26. doi: 10.1158/1078-0432.CCR-14-1069.
9. Roskoski R. RAF protein-serine/threonine kinases: structure and regulation. Biochem Biophys Res Commun 2010;399(3):313–7. doi: 10.1016/j.bbrc.2010.07.092.
10. Tang X., Guo X., Sun L.Y., Ai Y., Yang X., Sun J.J., Wu J.R., Gao J. BRAF-V600E mutation and its clinical signifi cance in children with Langerhans cell histiocytosis. Zhongguo Dang Dai Er Ke Za Zhi 2018;20(4):290–4. PMID: 29658453.
11. Pappo A.S. Pediatric melanoma: the whole (genome) story. Am Soc Clin Oncol Educ Book 2014:e432–5. doi: 10.14694/EdBook_ AM.2014.34.e432.
12. Wegert J., Vokuhl C., Collord G., Del Castillo Velasco-Herrera M., Farndon S. J., Guzzo C., Jorgensen M., Anderson J., Slater O., Duncan C., Bausenwein S., Streitenberger H., Ziegler B., Furtwängler R., Graf N., Stratton M.R., Campbell P.J., Jones D.T., Koelsche C., Pfi ster S.M., Mifsud W., Sebire N., Sparber-Sauer M., Koscielniak E., Rosenwald A., Gessler M., Behjati S. Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants. Nat Commun 2018;9(1):2378. doi: 10.1038/s41467-018-04650-6.
13. Dahiya S., Emnett R.J., Haydon D.H., Leonard J.R., Phillips J.J., Perry A., Gutmann D.H. BRAF-V600E mutation in pediatric and adult glioblastoma. Neuro Oncol 2014;16(2):318–9. doi: 10.1093/neuonc/not146.
14. Pakneshan S., Salajegheh A., Smith R.A., Lam A.K. Clinicopathological relevance of BRAF mutations in human cancer. Pathology 2013;45:346–56. doi: 10.1097/PAT.0b013e328360b61d.
15. Kurppa K.J., Caton J., Morgan P.R., Ristimäki A., Ruhin B., Kellokoski J., Elenius K., Heikinheimo K. High frequency of BRAF V600E mutations in ameloblastoma. J Pathol 2014;232:492–8. doi: 10.1002/path.4317.
16. Fregnani E.R., Perez D.E., Paes de Almeida O., Fonseca F.P., Soares F.A., Castro-Junior G., Alves F. BRAF-V600E expression correlates with ameloblastoma aggressiveness. Histopathology 2017;70(3):473–84. doi: 10.1111/his.13095.
17. Menzies A.M., Long G.V. Systemic treatment for BRAF-mutant melanoma: where do we go next? Lancet Oncol 2014;15(9):e371–e381. doi: 10.1016/S1470-2045(14)70072-5.
18. Holderfi eld M., Deuker M.M., McCormick F., McMahon M. Targeting RAF kinases for cancer therapy: BRAF-mutated melanoma and beyond. Nat Rev Cancer 2014;7:455–67. doi: 10.1038/nrc3760.
19. Ascierto P.A., Schadendorf D., Berking C., Agarwala S.S., van Herpen C.M., Queirolo P., Blank C.U., Hauschild A., Beck J.T., St-Pierre A., Niazi F., Wandel S., Peters M., Zubel A., Dummer R. MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. Lancet Oncol 2013;14(3):249–56. doi: 10.1016/S1470-2045(13)70024-X.
20. Tan S., Pollack J.R., Kaplan M.J., Colevas A.D., West R.B. BRAF inhibitor treatment of primary BRAF-mutant ameloblastoma with pathologic assessment of response. Oral Surg Oral Med Oral Pathol Oral Radiol 2016;122(1):e5–7. doi: 10.1016/j.oooo.2015.12.016.
21. Faden D.L., Algazi A. Durable treatment of ameloblastoma with single agent BRAFi Re: Clinical and radiographic response with combined BRAF-targeted therapy in stage 4 ameloblastoma. J Natl Cancer Inst 2016;109(1). pii: djw190. doi: 10.1093/jnci/djw190.
22. Heikinheimo К., Kurppa K.J., Elenius K. Novel Targets for the Treatment of Ameloblastoma. J Dent Res 2015;94(2):237–40. doi: 10.1177/0022034514560373.
Review
For citations:
Sagoyan G.B., Mareeva Yu.M., Roshchin V.Yu., Grachev N.S., Konovalov D.M., Druy A.E., Bondarenko V.P., Alekseev M.A., Ovsyannikova G.S., Litvinov D.V., Zhukov N.V. Successful targeted therapy in a patient with transformation of a BRAF-mutated ameloblastoma into an undifferentiated round-cell sarcoma. Russian Journal of Pediatric Hematology and Oncology. 2018;5(4):86-93. (In Russ.) https://doi.org/10.17650/2311-1267-2018-5-4-86-93