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High frequency of clonal hematopoiesis in Erdheim-Chester disease.
Cohen Aubart, Fleur; Roos-Weil, Damien; Armand, Marine; Marceau-Renaut, Alice; Emile, Jean-François; Duployez, Nicolas; Charlotte, Frédéric; Poulain, Stéphanie; Lhote, Raphael; Hélias-Rodzewicz, Zofia; Della-Valle, Véronique; Bernard, Olivier; Maloum, Karim; Nguyen-Khac, Florence; Donadieu, Jean; Amoura, Zahir; Abdel-Wahab, Omar; Haroche, Julien.
Afiliação
  • Cohen Aubart F; Service de Médecine Interne 2, Centre National de Référence Histiocytoses, and.
  • Roos-Weil D; Service d'Hématologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
  • Armand M; Gustave Roussy, Unité 1170, INSERM, Villejuif, France.
  • Marceau-Renaut A; Gustave Roussy, Unité 1170, INSERM, Villejuif, France.
  • Emile JF; Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, and.
  • Duployez N; Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER), UMR-S 1277, Centre Hospitalier Universitaire (CHU) Lille, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Lille, Lille, France.
  • Charlotte F; EA4340, Université Versailles-Saint Quentin, Versailles, France.
  • Poulain S; Département de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
  • Lhote R; Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, and.
  • Hélias-Rodzewicz Z; Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER), UMR-S 1277, Centre Hospitalier Universitaire (CHU) Lille, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Lille, Lille, France.
  • Della-Valle V; Service d'Anatomopathologie and.
  • Bernard O; Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, and.
  • Maloum K; Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER), UMR-S 1277, Centre Hospitalier Universitaire (CHU) Lille, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Lille, Lille, France.
  • Nguyen-Khac F; Service de Médecine Interne 2, Centre National de Référence Histiocytoses, and.
  • Donadieu J; EA4340, Université Versailles-Saint Quentin, Versailles, France.
  • Amoura Z; Département de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
  • Abdel-Wahab O; Gustave Roussy, Unité 1170, INSERM, Villejuif, France.
  • Haroche J; Gustave Roussy, Unité 1170, INSERM, Villejuif, France.
Blood ; 137(4): 485-492, 2021 01 28.
Article em En | MEDLINE | ID: mdl-33067622
Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38- BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Erdheim-Chester / Hematopoiese Clonal Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Erdheim-Chester / Hematopoiese Clonal Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2021 Tipo de documento: Article