eISSN: 1897-4309
ISSN: 1428-2526
Contemporary Oncology/Współczesna Onkologia
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SCImago Journal & Country Rank
2/2023
vol. 27
 
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abstract:
Original paper

Secretory carcinoma of major and minor salivary glands with ETV6-NTRK3 gene fusion: overcoming misdiagnosis in the era of tumour-agnostic therapy with TRK inhibitors

Monika Durzyńska
1
,
Karol Dominiak
2
,
Iwona Sosnowska
1
,
Irmina Maria Michalek
1

  1. Department of Pathology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
  2. Department of Head and Neck Cancer, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
Contemp Oncol (Pozn) 2023; 27 (2): 101–108
Online publish date: 2023/08/26
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Introduction:
Secretory carcinoma (SC) of the salivary gland is an extraordinarily rare tumour. Accurate diagnosis of SC is crucial for understanding the clinical course, prognosis, and selection of optimal therapy. The aim of this research was to analyse retrospectively the clinical and pathological characteristics of patients diagnosed with SC of the salivary gland from 2017 onwards, which aligns with its addition to the World Health Organization classification.

Material and methods:
We conducted a retrospective, single-centre, clinicopathological analysis of patients diagnosed with SC of the salivary gland between 2017 and 2022. The analysis included the evaluation of NTRK3 gene rearrangements and immunohistochemical (IHC) profiling.

Results:
The study included 6 patients, comprising 4 women and 2 men. The average age of the patients was 50 years (standard deviation 26). Three cases presented with tumours in the parotid gland, while one case each involved the submandibular gland, sinonasal tract, and buccal mucosa. Interestingly, despite the characteristic IHC profile, each case was initially diagnosed as a different type of salivary gland cancer. Next-generation sequencing analysis was performed in 3 cases, revealing the presence of the ETV6-NTRK3 fusion gene. This cohort notably features an intriguing case: the youngest patient documented in literature, distinguished by extended follow-up and delayed recurrence.

Conclusions:
In summary, emphasizing the risk of misdiagnosis is pivotal in the context of SC of the salivary gland, which can manifest across diverse glandular sites. Accurate diagnosis, underscored by the assessment of NTRK3 gene rearrangements, assumes a critical role in guiding effective management and treatment decisions.

keywords:

salivary gland, malignancy, secretory carcinoma, immunohistochemistry, next-generation sequencing

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