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Novel somatic alterations in unicentric and idiopathic multicentric Castleman disease.
Goodman, Aaron M; Jeong, Ah-Reum; Phillips, Alexis; Wang, Huan-You; Sokol, Ethan S; Cohen, Philip R; Sicklick, Jason; Fajgenbaum, David C; Kurzrock, Razelle.
Afiliação
  • Goodman AM; Division of Blood and Marrow Transplantation, Department of Medicine, University of California San Diego, La Jolla, California, USA.
  • Jeong AR; Division of Hematology and Oncology, Department of Medicine, University of California San Diego, La Jolla, California, USA.
  • Phillips A; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Wang HY; Division of Laboratory and Genomic Medicine, Department of Pathology, University of California San Diego, La Jolla, California, USA.
  • Sokol ES; Cancer Genomics Research, Foundation Medicine, Cambridge, Massachusetts, USA.
  • Cohen PR; Department of Dermatology, University of California Davis Medical Center, Sacramento, California, USA.
  • Sicklick J; Department of Dermatology, Touro University California College of Osteopathic Medicine, Vallejo, California, USA.
  • Fajgenbaum DC; Division of Surgical Oncology, Department of Surgery, University of California San Diego, La Jolla, California, USA.
  • Kurzrock R; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Eur J Haematol ; 107(6): 642-649, 2021 Dec.
Article em En | MEDLINE | ID: mdl-34431136
OBJECTIVES: Castleman disease (CD) is a heterogeneous group of disorders involving systemic inflammation and lymphoproliferation. Recently, clonal mutations have been identified in unicentric CD (UCD) and idiopathic multicentric CD (iMCD), suggesting a potential underlying neoplastic process. METHODS: Patients with UCD or iMCD with next generation sequencing (NGS) data on tissue DNA and/or circulating tumor DNA (ctDNA) were included. RESULTS: Five patients were included, 4 with iMCD and 1 with UCD. Four patients (80%) were women; median age was 40 years. Three of five patients (60%) had ≥1 clonal mutation detected on biopsy among the genes included in the panel. One patient with iMCD had a 14q32-1p35 rearrangement and a der(1)dup(1)(q42q21)del(1)(q42) (1q21 being IL-6R locus) on karyotype. This patient also had a NF1 K2459fs alteration on ctDNA (0.3%). Another patient with iMCD had a KDM5C Q836* mutation, and one patient with UCD had a TNS3-ALK fusion but no ALK expression by immunohistochemistry. CONCLUSIONS: We report 4 novel somatic alterations found in patients with UCD or iMCD. The 1q21 locus contains IL-6R, and duplication of this locus may increase IL-6 expression. These findings suggest that a clonal process may be responsible for the inflammatory phenotype in some patients with UCD and iMCD.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperplasia do Linfonodo Gigante / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperplasia do Linfonodo Gigante / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article