Malignant transformation of the salivary gland pleomorphic adenoma in myoepithelial carcinoma – the report of two cases

Szabelska, Paulina; Rzepakowska, Anna; Szczepankiewicz, Benedykt; Niemczyk, Elżbieta; Osuch‐Wójcikiewicz, Ewa; Niemczyk, Kazimierz

doi:10.5604/01.3001.0013.0617

Cited by 1 publication

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“…The second patient died after one year, due to disease progression. The comprehensive description of both patients' clinical symptoms, treatment, and histopathology analysis was previously presented by Szablewska et al [28]. A summary of patients' data is collected in Table 1.…”

Section: Case Reportsmentioning

confidence: 99%

FGFR2 point mutation in 2 cases of pleomorphic adenoma progressing to myoepithelial carcinoma

Pikul,

Rzepakowska,

Machnicki

et al. 2023

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Introduction: Salivary gland tumours are rare neoplasms. Pleomorphic adenoma (PA) is the most frequent benign lesion. Myoepithelial carcinoma (MECA) is rarely recognized malignancy, but the prognosis is unfavourable. The aim of this study was to identify genetic rearrangements that might be responsible for dynamic MECA progression in patients with primary radical PA excision. Material and methods: Next-generation sequencing (NGS) of 1500 gene coding sequences was performed in primary and recurrent tumour tissue collected from 2 patients, in whom PA was initially diagnosed and within one year multifocal MECA was detected. Formalin-fixed paraffin-embedded blocks with tumour tissues were subject to NGS analysis, involving smallscale mutations, as well as focal and chromosomal arm-level copy number changes.Results: This study showed mutations in the FGFR2 gene in PA and MECA tissues, obtained from both patients. One of them, pathogenic mutation p.Pro253Arg, was associated with sensitivity to registered drug inhibitors. Additionally, FGFR1, EGFR, and CDK4/ CDK6 amplification, as well as CD-KN2A/B deletion, were detected in one case. Furthermore, mutations in suppressor gene APC2 and PIK3C2A were detected, but only in MECA tissue. The analysis also identified the following chromosomal copy alterations: 4q12-q13. 3, 9p21.3, 5q23.1-q34, del8p23.3-p12, and del13q21.31-q31.1. Conclusions: Rearrangement of the FGFR2 gene, identified in primary PA and MECA ex PA samples of both our patients, may be responsible for the malignant transformation and the disease progression. Further studies are encouraged to confirm the relevance of the findings. The therapy option with FGFR2 inhibitors may be considered in advanced or metastatic MECA ex PA with confirmed FGFR2 mutations.

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Section: Case Reportsmentioning

confidence: 99%