A study sought to assess whether skin lesions of myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML) are clonally related to blood or bone marrow cells using next-generation sequencing (NGS). NGS can be used to discern clonal myeloid cells in the skin infiltrate and thus better characterize the link between hematological diseases and skin lesions. The findings were published in Frontiers in Immunology.
Researchers compared of blood or bone marrow and skin sample NGS findings from 14 patients presenting with MDS/CMML and skin lesions in three French hospitals.
The study found that 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. The researchers observed that mutations in TET2 and DNMT3A, both in four patients, were the most frequent.
In terms of limitations, the researchers noted the low number of patients analyzed and the retrospective collection of the data. Also, blood and skin sampling were not performed at the exact same time point for two patients.
The researchers concluded that, “Skin lesions in the setting of MDS/CMML are characterized by a clonal myeloid infiltrate in most cases.”