Mammary analogue secretory carcinoma of the salivary gland with NTRK fusions: new approaches for diagnostics and targeted therapy (review)

Opuholi Golovy i Šei

Yu. V. Alymov¹  A. M. Mudunov²  A. V. Ignatova³  S. О. Podvyaznikov³ 

[1] N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia;RUDN University;Russian Medical Academy of Continuing Professional Education, Ministry of Health of Russia;

关键词: mammary analogue secretory carcinoma;    etv6-ntrk3;    next-generation sequencing;    fluorescent in situ hybridization;    immunohistochemistry;    polymerase chain reaction;    tyrosine kinase inhibitors;    entrectinib;    larotrectinib;   

DOI  :  10.17650/2222-1468-2020-10-2-69-78

来源: DOAJ

【 摘 要 】

Mammary analogue secretory carcinoma (MASC) of the salivary gland is a rare salivary cancer, histologically resembling to secretory carcinoma of the breast. In 2017 World Health Organization reported MASC is a new salivary cancer subtype. The aim of this article is to collect and analyze data about MASC, particularly clinical, histological and molecular profile, to evaluate targeted therapy effects. We discuss a case report of dramatic and durable response with entrectinib and the development of acquired resistance in an NTRK3-fusion positive salivary cancer, detected by next-generation sequencing.Next-generation sequencing as a comprehensive molecular profiling, that helps to investigate molecular profile of rare tumors and gives an opportunity to use an effective therapeutic options. Identifying ETV6-NTRK3 positive MASC provides a better prognosis for metastatic disease by using a novel effective targeted therapy with tyrosine kinase inhibitors (entrectinib, larotrectinib). Despite a durable and dramatic response, we showed an interesting case of the development of acquired resistance to tyrosine kinase inhibitors mediated by the appearance of a novel NTRK3 G623R mutation. Finally, we believe in great perspectives of comprehensive molecular profiling and targeted therapy for rare malignancies with NTRK gene fusions, including second-generation tyrosine kinase inhibitors.

【 授权许可】

Unknown