title: PDGFRa amplification in multiple skin lesions of undifferentiated pleomorphic sarcoma: A clue for intimal sarcoma metastases.
abstract: A 62-year-old human immunodeficiency virus-positive man was admitted for multiple cutaneous and subcutaneous nodules on his lower limbs, corresponding to an undifferentiated proliferation of spindle and pleomorphic cells, with irregular nuclei and numerous mitoses. The tumor cells were negative for a large panel of immunohistochemical markers, except CD10. MDM2 immunohistochemical staining was also negative, leading to the diagnosis of Fédération Nationale des Centres de Lutte contre le Cancer grade III undifferentiated pleomorphic sarcoma (UPS). Array-comparative genomic hybridization showed a highly complex karyotype, with amplification of the 4q12 region, an area that contains only the platelet-derived growth factor receptor α (PDGFRa) gene. This amplification of PDFGRa, molecular hallmark of intimal sarcoma (IS), led to the diagnosis of skin IS metastasis. A positron emission tomography showed a hypermetabolic mass protruding in the preaortic area, consistent with the diagnosis of aortic IS. Our study shows that a rare differential diagnosis in peripheral UPS can be IS skin metastasis, and underlines the importance of molecular analyses in UPS.
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1165, Paris, France.|INSERM, U1165-Paris, Paris, France.|Laboratoire de Pathologie, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Amélie
authors.identifier: http://orcid.org/0000-0003-0861-0594
authors.initials: A
authors.lastname: Osio
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1165, Paris, France.|INSERM, U1165-Paris, Paris, France.|Laboratoire de Pathologie, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Marie-Dominique
authors.initials: MD
authors.lastname: Vignon-Pennamen
authors.affiliation: Laboratoire de Biologie, Centre Hospitalier Universitaire de Nice, Nice, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
authors.affiliation: Service d'Oncologie Médicale, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Le Maignan
authors.affiliation: Service de Chirurgie Vasculaire, Hôpital la Pitié Salpétrière AP-HP, Paris, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Koskas
authors.affiliation: Service de Dermatologie, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Célèste
authors.initials: C
authors.lastname: Lebbé
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1165, Paris, France.|INSERM, U1165-Paris, Paris, France.|Laboratoire de Pathologie, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Janin
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1165, Paris, France.|INSERM, U1165-Paris, Paris, France.|Laboratoire de Pathologie, Hôpital Saint-Louis AP-HP, Paris, France.
authors.forename: Maxime
authors.initials: M
authors.lastname: Battistella
mesh_terms: D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005784:Gene Amplification; D015658:HIV Infections / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008048:Lip Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009362:Neoplasm Metastasis; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics / Q000378:metabolism; D012509:Sarcoma / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: D009363:Neoplasm Proteins; D020796:Receptor, Platelet-Derived Growth Factor alpha
keywords: PDGFRa; UPS; intimal sarcoma; undifferentiated pleomorphic sarcoma