AUTHOR=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 TITLE=Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series JOURNAL=Frontiers in Immunology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.715053 DOI=10.3389/fimmu.2021.715053 ISSN=1664-3224 ABSTRACT=Background

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.

Objective

To assess whether skin lesions of MDS/CMML are clonally related to blood or bone marrow cells using NGS.

Methods

Comparisons of blood or bone marrow and skin samples NGS findings from patients presenting with MDS/CMML and skin lesions in three French hospitals.

Results

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 TET2 and DNMT3A, both in four patients, were the most frequent. Two patients harbored a UBA1 mutation on hematopoietic samples.

Limitations

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.

Conclusion

Skin lesions in the setting of MDS/CMML are characterized by a clonal myeloid infiltrate in most cases.