Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series
In: Frontiers in Immunology, Jg. 12 (2021-10-04)
Online
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Zugriff:
BackgroundMyelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML) are associated with cutaneous manifestations. Next-generation sequencing (NGS) is a tool capable of identifying clonal myeloid cells in the skin infiltrate and thus better characterize the link between hematological diseases and skin lesions.ObjectiveTo assess whether skin lesions of MDS/CMML are clonally related to blood or bone marrow cells using NGS.MethodsComparisons of blood or bone marrow and skin samples NGS findings from patients presenting with MDS/CMML and skin lesions in three French hospitals.ResultsAmong the 14 patients recruited, 12 patients (86%) had mutations in the skin lesions biopsied, 12 patients (86%) had a globally similar mutational profile between blood/bone marrow and skin, and 10 patients (71%) had mutations with a high variant allele frequency (>10%) found in the myeloid skin infiltrate. Mutations in TET2 and DNMT3A, both in four patients, were the most frequent. Two patients harbored a UBA1 mutation on hematopoietic samples.LimitationsLimited number of patients and retrospective collection of the data. Blood and skin sampling were not performed at the exact same time point for two patients.ConclusionSkin lesions in the setting of MDS/CMML are characterized by a clonal myeloid infiltrate in most cases.
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Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series
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| Autor/in / Beteiligte Person: | Mekinian, Arsène ; Ades, Lionel ; Georgin-Lavialle, Sophie ; Senet, Patricia ; Grégoire Martin de Frémont ; Chasset, François ; Malard, Florent ; Hanslik, Thomas ; Adedjouma, A. ; Emile, Jean-François ; Fain, Olivier ; Mahévas, T. ; Maurier, François ; Abisror, Noémie ; Santiago Gimenez de Mestral ; Fenaux, Pierre ; Moguelet, Philippe ; Ditchi, Y. ; Hirsch, Pierre ; Service de médecine interne [CHU Saint-Antoine] ; CHU Saint-Antoine [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) ; Service d'immunologie et hématologies biologiques [CHU Saint-Antoine] ; Centre de Recherche Saint-Antoine (CR Saint-Antoine) ; Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP] ; Service de Pathologie [CHU Saint-Antoine] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU) ; Service d’Anatomie et cytologie pathologiques [CHU Tenon] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP] ; Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU) ; Département de médecine oncologique [Gustave Roussy] ; Institut Gustave Roussy (IGR) ; Hôpital Ambroise Paré [AP-HP] ; Service de dermatologie et allergologie [CHU Tenon] ; CHU Tenon [AP-HP] ; Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) ; Service de Médecine Interne [CHU Tenon] ; Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP) ; Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) ; Laboratoire d'Hématologie et d'Immunologie [CHU Saint-Antoine] ; Hopital Saint-Louis [AP-HP] (AP-HP) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) ; Centre de Recherche Saint-Antoine (CRSA) ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) ; Service d'Anatomopathologie [CHU Saint-Antoine] ; Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé) ; Université de Versailles Saint-Quentin-en-Yvelines (UVSQ) ; Service d’Anatomopathologie [CHU Tenon] ; Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon] ; Service de médecine interne [CHU Ambroise Paré] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP] ; Université Paris Cité (UPCité) ; Gestionnaire, HAL Sorbonne Université 5 |
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| Zeitschrift: | Frontiers in Immunology, Jg. 12 (2021-10-04) |
| Veröffentlichung: | Frontiers Media SA, 2021 |
| Medientyp: | unknown |
| ISSN: | 1664-3224 (print) |
| DOI: | 10.3389/fimmu.2021.715053 |
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