GRM1-rearranged chondromyxoid fibroma with FGF23 expression: A potential pitfall in small biopsies Journal Article


Authors: Machado, I.; Zhang, Y.; Hameed, M.; Hwang, S.; Sharma, A. E.; Bilsky, M. H.; Linos, K.
Article Title: GRM1-rearranged chondromyxoid fibroma with FGF23 expression: A potential pitfall in small biopsies
Abstract: The clinical, radiological, and histopathological features of chondromyxoid fibroma can sometimes resemble those of other benign or malignant tumors. Recently, recurrent GRM1 rearrangements have been identified in chondromyxoid fibroma, and GRM1 positivity by immunohistochemistry has emerged as a dependable surrogate marker for this molecular alteration. Phosphaturic mesenchymal tumor is a rare tumor that often exhibits overexpression of fibroblastic growth factor 23 (FGF23) through various mechanisms. In this report, we present a case of GRM1-rearranged chondromyxoid fibroma that also exhibited FGF23 expression via in situ hybridization, posing significant diagnostic challenges during workup of the initial core biopsy. We hope that this case can serve as an educational resource, shedding light on a rare diagnostic pitfall. © The Author(s) 2024.
Keywords: immunohistochemistry; adult; clinical article; protein expression; bone tumor; genetics; cancer recurrence; case report; disease marker; nuclear magnetic resonance imaging; positron emission tomography; cancer diagnosis; metabolism; gene; cd34 antigen; differential diagnosis; pathology; tumor marker; in situ hybridization; fluorescence in situ hybridization; gene rearrangement; contrast enhancement; diagnosis; surgery; protein s 100; fibroma; giant cell; fibroblast growth factor; fibroblast growth factors; adipose tissue; fibroblast growth factor 23; mucin 4; lung complication; chronic cough; high throughput sequencing; transcription factor sox10; osteoclastoma; humans; human; male; female; article; rna sequencing; fgf23; phosphaturic mesenchymal tumor; fibroblast growth factor-23; biomarkers, tumor; metabotropic receptor; fn1; chondromyxoid fibroma; receptors, metabotropic glutamate; metabotropic glutamate receptor type 1; grm1; fgf23 protein, human; grm1 gene
Journal Title: International Journal of Surgical Pathology
Volume: 32
Issue: 8
ISSN: 1066-8969
Publisher: Sage Publications  
Date Published: 2024-12-01
Start Page: 1500
End Page: 1507
Language: English
DOI: 10.1177/10668969241229345
PUBMED: 38303543
PROVIDER: scopus
PMCID: PMC12060777
DOI/URL:
Notes: The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF. Corresponding MSK author is Konstantinos Linos -- Source: Scopus
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MSK Authors
  1. Meera Hameed
    284 Hameed
  2. Mark H Bilsky
    321 Bilsky
  3. Sinchun Hwang
    98 Hwang
  4. Konstantinos Linos
    58 Linos
  5. Yanming Zhang
    203 Zhang