Targeted RNA Sequencing in the Routine Clinical Detection of Fusion Genes in Salivary Gland Tumors

Author(s):  
Justin Bubola ◽  
Christina M. MacMillan ◽  
Elizabeth G. Demicco ◽  
Rose A. Chami ◽  
Catherine T‐S Chung ◽  
...  
2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e17577-e17577
Author(s):  
Damian Tobias Rieke ◽  
Mario Lamping ◽  
Serge Leyvraz ◽  
Theo Daniel Kim ◽  
Lutz Brinkmann ◽  
...  

e17577 Background: Salivary gland tumors (SGT) represent a rare and heterogeneous group of malignancies. No standard treatment exists in the advanced situation and the prognosis is poor. We here report characteristics and clinical outcomes of patients with SGT discussed at the Charité molecular tumor board (MTB). Methods: Patients with advanced cancer and no curative treatment option were discussed at the Charité MTB. Eligible patients underwent fresh tissue sampling and subsequent whole exome (WES) and RNA sequencing (RNA-seq) and immunohistochemical analyses (EGFR, HER2, AR as well as validation tests) or panel sequencing. Results from molecular testing were discussed at the MTB and patients were followed-up after recommendations were made. Results: 24 patients (median age 56 years, 13 male, 11 female) with advanced SGT were presented at the MTB between 2016 and 2019 (9 adenoidcystic carcinomas, 5 adenocarcinomas, 3 mucoepidermoid, 2 carcinosarcoma, 5 miscellaneous). WES/RNA sequencing was performed on tumor tissue from 16 patients. 2 patients were not included in the sequencing program and WES/RNA-Seq was ongoing for another 4 patients at the time of analysis. For another 2 patients, panel sequencing and IHC analysis, respectively was done. Results from analyses were discussed and a median of 2 recommendations, ranked by priority according to prespecified evidence levels, were made for 17 patients, each. Most commonly proposed treatment options by the MTB were FGFR inhibitors in 6 patients, mTOR or PARP inhibitors in 5 each, EGFR, HDAC inhibitors or antiandrogen therapy in 4, each. Treatments following MTB recommendations were initiated in 8 patients, 1 of which received a second recommended therapy after progression (antiandrogen therapy in 4, EGFR inhibitor in 2, a PDGFR, mTOR and PARP inhibitor in 1, each). A clinical benefit (CR = 1; Mixed Response = 1, SD = 3) was achieved in 5 patients, including a complete response in a patient with a metastatic adenocarcinoma of the parotid gland, treated with antiandrogen therapy. Conclusions: Precision oncology represents a feasible treatment strategy in patients with advanced SGT and shows early evidence of activity in a subset of patients. These results suggest further exploration of personalized therapy in these hard-to-treat tumors.


2019 ◽  
Author(s):  
Sina Torabi ◽  
Todd Spock ◽  
Bruno Cardoso ◽  
Janet Chao ◽  
R. Manes ◽  
...  

2021 ◽  
Vol 121 ◽  
pp. 104987
Author(s):  
Fernanda Aragão Felix ◽  
Leorik Pereira da Silva ◽  
Maria Luiza Diniz de Sousa Lopes ◽  
Ana Paula Veras Sobral ◽  
Roseana de Almeida Freitas ◽  
...  

Author(s):  
Costantino Ricci ◽  
Federico Chiarucci ◽  
Francesca Ambrosi ◽  
Tiziana Balbi ◽  
Barbara Corti ◽  
...  

AbstractThe presence of melanin pigment and melanocytic markers expression have been rarely reported in salivary gland tumors. Herein, two cases of carcinoma arising in pleomorphic adenoma of the parotid gland and showing diffuse expression of myoepithelial and melanocytic markers are described. The clinical-pathological clues useful in the differential diagnosis with melanoma are discussed. In addition, a review of the pertinent literature is also proposed, discussing the pathologic mechanisms potentially involved in this phenomenon.


2020 ◽  
Vol 152 ◽  
pp. S436
Author(s):  
A. Florindo ◽  
S. Saraiva ◽  
T.C. Tomás ◽  
A. Abrunhosa-Branquinho ◽  
V. Mendonça ◽  
...  

Head & Neck ◽  
2021 ◽  
Vol 43 (4) ◽  
pp. 1056-1062
Author(s):  
Kaveh Zakeri ◽  
Huili Wang ◽  
Jung Julie Kang ◽  
Anna Lee ◽  
Paul Romesser ◽  
...  

Cells ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 845
Author(s):  
Maria Ciccolella ◽  
Sara Andreone ◽  
Jacopo Mancini ◽  
Paola Sestili ◽  
Donatella Negri ◽  
...  

Salivary gland tumors are a heterogeneous group of neoplasms representing less than 10% of all head and neck tumors. Among salivary gland tumors, salivary duct carcinoma (SDC) is a rare, but highly aggressive malignant tumor resembling ductal breast carcinoma. Sublingual treatments are promising for SDC due to the induction of both local and systemic biological effects and to reduced systemic toxicity compared to other administration routes. In the present study, we first established that the sublingual administration of type I IFN (IFN-I) is safe and feasible, and exerts antitumor effects both as monotherapy and in combination with chemotherapy in transplantable tumor models, i.e., B16-OVA melanoma and EG.7-OVA lymphoma. Subsequently, we proved that sublingual IFN-I in combination with cyclophosphamide (CTX) induces a long-lasting reduction of tumor mass in NeuT transgenic mice that spontaneously develop SDC. Most importantly, tumor shrinkage in NeuT transgenic micewas accompanied by the emergence of tumor-specific cellular immune responses both in the blood and in the tumor tissue. Altogether, these results provide evidence that sublingual IFN holds promise in combination with chemotherapy for the treatment of cancer.


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