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Myopericytomatosis of the Foot: a Case Report Including Molecular Identification of a PDGFRB Mutation

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Abstract

This case report is about myopericytomatosis, a recently described rare tumor entity with only a dozen cases found in PubMed. Histologically, this tumor is characterized by diffuse infiltration of innumerable discrete myopericytoma-like nodules composed of myoid cells in a perivascular distribution. PDGFRB mutation has been linked to myopericytomatosis as well as other myopericytic tumors. The aim of this paper is to share the clinical presentation and expand the spectrum of genetic findings. We report a case of myopericytomatosis arising around the left ankle of a 73-year-old man. MRI, biopsy, and histopathology were the main diagnostic steps. Targeted next-generation sequencing was carried out to analyze the tumor sample. We performed local excision for tumor mass reduction, as wide resection was impossible a priori based on the delicate anatomical region with important structures in close proximity. Genetic analysis revealed a missense mutation of PDGFRB. PDGFRB alteration seems to play a pathogenic role in myopericytomatosis as highlighted in previously reported cases. Currently, myopericytomatosis is best treated surgically.

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Data Availability

Not applicable.

Abbreviations

EMA:

Epithelial membrane antigen

FGFR:

Fibroblast growth factor receptor

FLT4:

Fms-related tyrosine kinase 4

H&E:

Hematoxylin and eosin (stain)

KIT:

KIT proto-oncogene receptor tyrosine kinase

MRI:

Magnetic resonance imaging

PDGFRB:

Platelet-derived growth factor receptor-beta

RAF1:

Raf-1 proto-oncogene, serine/threonine kinase

RET1:

Ret 1 proto-oncogene

SMA:

Smooth muscle actin

TIE2:

Tyrosine-protein kinase receptor TIE-2

TKI:

Tyrosine kinase inhibitor

TP53:

Tumor protein P53

VEGF:

Tumor protein P53

WHO:

World Health Organization

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Acknowledgments

The authors thank for the good cooperation between the Department of Orthopaedics and Trauma and Institute of Pathology at the Medical University of Graz.

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Authors and Affiliations

  1. Department of Orthopaedics and Trauma, Medical University of Graz, Auenbruggerplatz 5, 8036, Graz, Austria

    Viktor Labmayr, Marko Bergovec & Andreas Leithner

  2. Institute of Pathology, Medical University of Graz, Neue Stiftingtalstraße 6, 8010, Graz, Austria

    Christian Viertler, Iva Brcic & Bernadette Liegl-Atzwanger

Authors
  1. Viktor Labmayr
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  2. Marko Bergovec
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  3. Christian Viertler
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  4. Iva Brcic
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  5. Andreas Leithner
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  6. Bernadette Liegl-Atzwanger
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Contributions

VL drafted the manuscript. BLA, CV, and IB carried out the histopathological and genetic analyses. AL performed the surgery. MB was responsible for clinical management of the patient. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Viktor Labmayr.

Ethics declarations

Ethics Approval and Consent to Participate

The study was approved by the Ethics Committee of the Medical University Graz under the reference number 31-136 ex 18/19. The patient gave consent to allow genetic analysis. All of the research described herein was conducted according to the Declaration of Helsinki. Written informed consent for the tissue and blood analysis was obtained from the patient.

Consent for Publication

Written informed consent for the publication of the clinical details and images was obtained from the patient.

Competing Interests

The authors declare that they have no competing interests.

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This article is part of the Topical Collection on Surgery

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Labmayr, V., Bergovec, M., Viertler, C. et al. Myopericytomatosis of the Foot: a Case Report Including Molecular Identification of a PDGFRB Mutation. SN Compr. Clin. Med. 1, 557–561 (2019). https://doi.org/10.1007/s42399-019-00073-6

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  • DOI: https://doi.org/10.1007/s42399-019-00073-6

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