Comparison of mutation profile between primary phyllodes tumors of the
breast and their paired local recurrences

Jerzy Mitus; Agnieszka Adamczyk; Kaja Majchrzyk; Artur Kowalik; Janusz Ryś; Joanna Niemiec

doi:10.5114/pjp.2020.94899

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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1/2020
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abstract:

Original paper

Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences

Jerzy W. Mitus

^{1, 2}

,

Agnieszka Adamczyk

³

,

Kaja Majchrzyk

³

,

Artur Kowalik

^{3, 4, 5}

,

Janusz Ryś

³

,

Joanna Niemiec

^{6, 7}

Department of Surgical Oncology, National Research Institute of Oncology, Kracow Branch, Krakow, Poland
Department of of Anatomy, Jagiellonian University Medical College, Krakow, Poland
Department of Tumour Pathology, National Research Institute of Oncology, Krakow Branch, Krakow, Poland
Department of Molecular Diagnostics, Holycross Cancer Center, Kielce, Poland
Division of Medical Biology, Institute of Biology Jan Kochanowski University, Kielce, Poland
Institute of Medical Sciences, Medical College of Rzeszow University, Rzeszow, Poland
Department Laboratory of Molecular Diagnostics, Cytogenetics and Flow Cytometry Specialist Hospital in Brzozow, Poland

Pol J Pathol 2020; 71 (1): 7-12

DOI: https://doi.org/10.5114/pjp.2020.94899

Online publish date: 2020/05/20

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Phyllodes tumor of the breast (PTB) is a rare neoplasm and accounts for 0.2-2.0% of breast cancer in women. Histopathological diagnosis of the tumor is difficult, and histological features do not always predict the course of the disease and the risk of progression. Pathogenesis and molecular biological characteristics as well as PTB prognostic factors are unknown. In search for genetic factors affecting PTB progression, 10 patients were analyzed for whom material from the primary tumor and local recurrence was available. DNA isolated from paraffin blocks was sequenced using the next-generation sequencing method (NGS). In 4 pairs, consisting of primary tumor and local recurrence, probably pathogenic/pathogenic variants were detected, and in three pairs they were observed in the CDKN2A gene, while other variants were found in PTEN and TP53 genes. NGS results indicate that the above-mentioned variants are hereditary, which suggests that the CDKN2A gene might be involved in cancerogenesis of PTB. Additionally, the selected pathogenic variant of EGFR gene was exclusively detected in one recuurent tumor, which might suggest the involvement of this gene in the mechanism of progression. In order to determine if this variant is associated with progression, the frequency of this mutation should be examined in larger group of malignant and borderline tumors.

keywords:

Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences

Jerzy W. Mitus 1, 2 , Agnieszka Adamczyk 3 , Kaja Majchrzyk 3 , Artur Kowalik 3, 4, 5 , Janusz Ryś 3 , Joanna Niemiec 6, 7

phyllodes tumor, breast, next-generation sequencing, gene variants

Jerzy W. Mitus

^{1, 2}

,

Agnieszka Adamczyk

³

,

Kaja Majchrzyk

³

,

Artur Kowalik

^{3, 4, 5}

,

Janusz Ryś

³

,

Joanna Niemiec

^{6, 7}