Publications by authors named "A L Folpe"
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by endocrine tumors, typically from parathyroid, pancreatic, or anterior pituitary origin. In addition, benign cutaneous soft tissue tumors are prevalent in MEN1 patients. Although sarcomas have been reported in MEN1 patients it is unclear if these tumors should be considered as part of the MEN1 syndrome.
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- In a study of six EAPDC cases, histological features were similar to axial PDC, showing malignant cell characteristics, and genetic analysis revealed common loss of the SMARCB1 gene.
- Follow-up revealed significant clinical challenges, including local recurrences and metastasis within months of surgery, highlighting the aggressive nature and poor prognosis of these rare tumors.
Xanthogranulomatous epithelial tumor (XGET)/Keratin-positive giant cell tumor (KP-GCT) represents a spectrum of recently described neoplasms characterized by a proliferation of distinctive mononuclear cells expressing keratin within a background of osteoclast-like giant cells, mixed inflammatory cells, and a variably prominent xanthogranulomatous component. Recent studies demonstrated a recurrent HMGA2::NCOR2 fusion in many cases. We herein describe a case of XGET/KP-GCT arising in the right femoral head of a 19-year-old male harboring a rare novel HMGA2::COL14A1 fusion.
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- * Recent cases of the tumor were reported in five patients (from ages 8 to 69) who presented with solitary masses on various body parts, with all undergoing surgical excision and showing no disease upon follow-up.
- * The study reveals unique morphological and molecular characteristics of these tumors and suggests rebranding the tumor as "superficial neurocristic FET::ETS fusion tumor" to better reflect its distinct nature.
An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.
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