Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series

• Published in: Frontiers in immunology Vol. 12; p. 715053
• Main Authors: Martin de Frémont, Grégoire, Hirsch, Pierre, Gimenez de Mestral, Santiago, Moguelet, Philippe, Ditchi, Yoan, Emile, Jean-François, Senet, Patricia, Georgin-Lavialle, Sophie, Hanslik, Thomas, Maurier, François, Adedjouma, Amir, Abisror, Noémie, Mahevas, Thibault, Malard, Florent, Adès, Lionel, Fenaux, Pierre, Fain, Olivier, Chasset, François, Mekinian, Arsène
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers 04.10.2021; Frontiers Media S.A
• Subjects: Aged; Aged, 80 and over; Biopsy; Bone Marrow - pathology; Bone Marrow Cells - metabolism; Bone Marrow Cells - pathology; chronic myelomonocytic leukemia; Clonal Evolution - genetics; clonal hematopoiesis; Disease Management; Female; Gene Expression Profiling; High-Throughput Nucleotide Sequencing; Humans; Immunology; Leukemia, Myelomonocytic, Chronic - complications; Leukemia, Myelomonocytic, Chronic - etiology; Leukemia, Myelomonocytic, Chronic - pathology; Life Sciences; Male; Middle Aged; myelodysplastic syndrome; Myelodysplastic Syndromes - complications; Myelodysplastic Syndromes - etiology; Myelodysplastic Syndromes - pathology; Myeloid Cells - pathology; next-generation sequencing; skin; Skin Diseases - diagnosis; Skin Diseases - etiology; Symptom Assessment; clonal hematopoiesis; skin; myelodysplastic syndrome; next-generation sequencing; chronic myelomonocytic leukemia
• ISSN: 1664-3224; 1664-3224
• DOI: 10.3389/fimmu.2021.715053

Myelodysplastic 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. To assess whether skin lesions of MDS/CMML are clonally related to blood or bone marrow cells using NGS. Comparisons of blood or bone marrow and skin samples NGS findings from patients presenting with MDS/CMML and skin lesions in three French hospitals. Among 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 and , both in four patients, were the most frequent. Two patients harbored a mutation on hematopoietic samples. Limited 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. Skin lesions in the setting of MDS/CMML are characterized by a clonal myeloid infiltrate in most cases.