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Zverev N.P.

I.P. Pavlov Ryazan State Medical University of the Ministry of Health of Russia

Lyakhovets A.A.

I.P. Pavlov Ryazan State Medical University of the Ministry of Health of Russia

Plaksa I.L.

Moscow City Oncology Hospital No. 62;
Human Stem Cell Institute

Khmelkova D.N.

OOO «GENETICO» Center of Genetics and Reproductive Medicine

Isaev A.A.

OOO «GENETICO» Center of Genetics and Reproductive Medicine

Metastatic basal cell carcinoma with a SMO gene mutation. A case report

Authors:

Zverev N.P., Lyakhovets A.A., Plaksa I.L., Khmelkova D.N., Isaev A.A.

More about the authors

Journal: Russian Journal of Archive of Pathology. 2021;83(6): 35‑38

DOI: 10.17116/patol20218306135

Read: 1484 times

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METASTATIC BASAL CELL CARCINOMA WITH A SMO GENE MUTATION. A CASE REPORT
METASTATIC BASAL CELL CARCINOMA WITH A SMO GENE MUTATION. A CASE REPORT

To cite this article:

Zverev NP, Lyakhovets AA, Plaksa IL, Khmelkova DN, Isaev AA. Metastatic basal cell carcinoma with a SMO gene mutation. A case report. Russian Journal of Archive of Pathology. 2021;83(6):35‑38. (In Russ.)
https://doi.org/10.17116/patol20218306135

Подписка 2025-2 (Russian Journal of Archive of Pathology)
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The authors describe a clinical case of a patient with metastatic basal cell carcinoma and secondary resistance to vismodegib. A SMO G416E mutation of unknown clinical significance was found in the gene encoding the transmembrane receptor protein Smoothened (SMO) protein, which suggests a defect in the Sonic Hedgehog (SH) pathway and may cause tumor resistance to the prescribed drug. Comprehensive genomic profiling and in silico analysis have been used to diagnose the tumor.

Keywords:

SMO
G416E
vismodegib
Sonic Hedgehog
basal cell carcinoma
resistance
clinical case

Authors:

Zverev N.P.

I.P. Pavlov Ryazan State Medical University of the Ministry of Health of Russia

Lyakhovets A.A.

I.P. Pavlov Ryazan State Medical University of the Ministry of Health of Russia

Plaksa I.L.

Moscow City Oncology Hospital No. 62;
Human Stem Cell Institute

Khmelkova D.N.

OOO «GENETICO» Center of Genetics and Reproductive Medicine

Isaev A.A.

OOO «GENETICO» Center of Genetics and Reproductive Medicine

Received:

02.06.2021

Accepted:

17.09.2021

List of references:

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  2. Von Domarus H, Stevens PJ. Metastatic basal cell carcinoma. Report of five cases and review of 170 cases in the literature. J Am Acad Dermatol. 1984;10:1043-1060.
  3. Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A. VarSome: The Human Genomic Variant Search Engine. Bioinformatics. 2019;35:1978-1980. https://doi.org/10.1093/bioinformatics/bty897
  4. Kumar V, Abbas AK, Fausto N, Aster DzhK. Osnovy patologii zabolevaniy po Robbinsu i Kotranu. M.: Logosphera; 2016.
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  7. Casey D, Demko S, Shord S, Zhao H, Chen H, He K, Putman A, Helms W, Keegan P, Pazdur R. FDA Approval Summary: Sonidegib for Locally Advanced Basal Cell Carcinoma. Clin Cancer Res. 2017;23:2377-2381. https://doi.org/10.1158/1078-0432.CCR-16-2051
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  10. Chang AL, Oro AE. Initial assessment of tumor regrowth after vismodegib in advanced basal cell carcinoma. Arch Dermatol. 2012;148(11):1324132-5. 
  11. Yauch RL, Dijkgraaf GJ, Alicke B, et al. Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. Science. 2009;326:572-574.  https://doi.org/10.1126/science.1179386
  12. Pricl S, Cortelazzi B, Dal Col V, et al. Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma. Mol Oncol. 2015;9(2):389-397.  https://doi.org/10.1016/j.molonc.2014.09.003

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