Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast

Carsten Holzmann,Joern Bullerdiek,Burkhard Helmke

doi:10.1186/s13039-020-00516-z

Carsten Holzmann, Joern Bullerdiek + Show 1 more

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https://doi.org/10.1186/s13039-020-00516-z

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Abstract

BackgroundPeriductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors. So far, results of genetic analyses on these tumors have not been reported.Case presentationA 50 year old female patient was admitted to the hospital because of a palpable lump in her right breast with a diameter of approximately 5–6 cm which was surgically removed by lumpectomy. Histologic examination revealed a biphasic breast tumor classified as periductal stromal tumor. Array analysis showed a pseudotetraploid tumor with a copy number of 4 for most of the chromosomes. In addition, further changes of chromosomes 1, 5, and 6 were noted but there were no mutations of MED12 as those frequently seen in fibroadenomas or phyllodes tumors.ConclusionsThe genetic alterations observed indicate karyotypic evolution leading to marked heterogeneity which fits with the tumor´s histologic and cytologic appearance as well as with its malignant behavior. Because of the absence of genetic similarities with phyllodes tumors, the case does not offer evidence for a common entity but rather suggests the existence of two independent entities.

Highlights

Periductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors
The genetic alterations observed indicate karyotypic evolution leading to marked heterogeneity which fits with the tumors histologic and cytologic appearance as well as with its malignant behavior
Periductal stromal tumors of the breast are an exceedingly rare tumor entity with close morphological relationship to phyllodes tumors [1]. They belong to the myoepithelial tumors and are composed of benign ductal elements and a stroma composed of spindle cells without showing the typical leaf-like histological patterns seen in phyllodes tumors (PT)

Summary

Introduction

Periductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors. Periductal stromal tumors of the breast are an exceedingly rare tumor entity with close morphological relationship to phyllodes tumors [1]. They belong to the myoepithelial tumors and are composed of benign ductal elements and a stroma composed of spindle cells without showing the typical leaf-like histological patterns seen in phyllodes tumors (PT). Due to their rareness, to the best of our knowledge genetic studies of these tumors have not been reported as yet.

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