title: Pancreatic involvement by mesenchymal chondrosarcoma harboring the HEY1-NCOA2 gene fusion.
abstract: Mesenchymal chondrosarcoma (MC) is an aggressive small, round, blue cell tumor with chondrogenic differentiation that typically arises in bony sites. Approximately, a third of these tumors develop in extraskeletal sites such as the meninges, and somatic soft tissue. The MCs are well-circumscribed, lobulated masses, with focal calcification. Histologically, 2 distinct populations of neoplastic cells characterize MC: sheets of primitive small, round, blue cells surrounding islands of well-developed hyaline cartilage with mature chondrocytes in lacunae. Involvement of the gastrointestinal tract and pancreas by primary or metastatic MC is a relatively rare occurrence. We identified 8 patients with MC in our departmental archives from 1990 to 2015, two of which had pancreatic involvement. The patients were young women who developed masses in the distal pancreas. Molecular testing demonstrated that both tumors harbored the recently described HEY1-NCOA2 gene fusion. These cases illustrate that pancreatic involvement can occur in MC, and the demonstration of HEY1-NCOA2 fusion can be helpful to confirm the diagnosis.
authors.affiliation: Department of Pathology, University of California, San Francisco, San Francisco, CA 94143.
authors.forename: Jarish N
authors.initials: JN
authors.lastname: Cohen
authors.affiliation: Department of Pathology, University of California, San Francisco, San Francisco, CA 94143.
authors.forename: David A
authors.initials: DA
authors.lastname: Solomon
authors.affiliation: Department of Pathology, University of California, San Francisco, San Francisco, CA 94143.
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Horvai
authors.affiliation: Department of Pathology, University of California, San Francisco, San Francisco, CA 94143. Electronic address: Sanjay.Kakar@ucsf.edu.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Kakar
mesh_terms: D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018797:Cell Cycle Proteins / Q000235:genetics*; D018211:Chondrosarcoma, Mesenchymal / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D005260:Female; D050939:Gene Fusion; D020022:Genetic Predisposition to Disease; D006801:Humans; D025202:Molecular Diagnostic Techniques; D051958:Nuclear Receptor Coactivator 2 / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010641:Phenotype; D011237:Predictive Value of Tests; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014057:Tomography, X-Ray Computed
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D014408:Biomarkers, Tumor; D018797:Cell Cycle Proteins; D051958:Nuclear Receptor Coactivator 2; C485631:HEY1 protein, human; C498001:NCOA2 protein, human
keywords: Biphasic; Gene fusion; HEY1-NCOA2; Mesenchymal chondrosarcoma; Pancreas