Paravertebral low-grade fibromyxoid sarcoma with supernumerary ring chromosome: Case report and literature review

Yi Che Chang Chien, Katalin Károlyi, I. Kovács

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue neoplasm with a deceptively benign histological appearance and low-grade malignant potential which is often mistaken for other reactive or benign lesions. It most frequently harbors balanced t(7;16) translocation, and leads to the fusion of the FUS and CREB3L2 genes which can be detected by cytogenetic methods. Young adults are most commonly affected and it typically arises in the deep proximal extremities or trunk with frequent recurrences. It may metastasize to the lungs several years later. Paravertebral LGFMS is exceedingly rare and only few cases have been published in the literature. In those cases the novel immunohistochemical markers and cytogenetic studies were not performed and morphological mimickers could not be confidently excluded. We present a rare case of paravertebral LGFMS from a 54-years-old male patient, which previously was misdiagnosed as a neurofibroma with subsequent tumor recurrence. The concrete diagnosis was established by using MUC4 immunohistochemical stain and fluorescent in situ hybridization (FISH), which showed diffuse membranous positivity and supernumerary ring chromosome with unbalanced FUS gene rearrangement, respectively. The latter finding is also rare and may cause diagnostic dilemma if one is not aware of such uncommon, but well-documented phenomenon. Differential diagnosis with other low-grade spindle cell tumors will also be discussed along with the literature review.

Original languageEnglish
Pages (from-to)90-96
Number of pages7
JournalAnnals of Clinical and Laboratory Science
Volume46
Issue number1
Publication statusPublished - Jan 1 2016

Fingerprint

Ring Chromosomes
Chromosomes
Sarcoma
Tumors
Genes
Cytogenetics
Ports and harbors
Soft Tissue Neoplasms
Recurrence
Neurofibroma
Coloring Agents
Fusion reactions
Gene Rearrangement
Concretes
Tissue
Diagnostic Errors
Fluorescence In Situ Hybridization
Young Adult
Neoplasms
Differential Diagnosis

Keywords

  • FUS
  • Low-grade fibromyxoid sarcoma
  • MUC4
  • Supernumerary ring chromosome
  • T(7;16)

ASJC Scopus subject areas

  • Immunology and Allergy
  • Microbiology
  • Pathology and Forensic Medicine
  • Immunology
  • Hematology
  • Molecular Biology
  • Clinical Biochemistry
  • Medical Laboratory Technology

Cite this

Paravertebral low-grade fibromyxoid sarcoma with supernumerary ring chromosome : Case report and literature review. / Chang Chien, Yi Che; Károlyi, Katalin; Kovács, I.

In: Annals of Clinical and Laboratory Science, Vol. 46, No. 1, 01.01.2016, p. 90-96.

Research output: Contribution to journalArticle

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