Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series.
Aged
Aged, 80 and over
Biopsy
Bone Marrow
/ pathology
Bone Marrow Cells
/ metabolism
Clonal Evolution
/ genetics
Disease Management
Female
Gene Expression Profiling
High-Throughput Nucleotide Sequencing
Humans
Leukemia, Myelomonocytic, Chronic
/ complications
Male
Middle Aged
Myelodysplastic Syndromes
/ complications
Myeloid Cells
/ pathology
Skin Diseases
/ diagnosis
Symptom Assessment
chronic myelomonocytic leukemia
clonal hematopoiesis
myelodysplastic syndrome
next-generation sequencing
skin
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2021
2021
Historique:
received:
26
05
2021
accepted:
02
09
2021
entrez:
21
10
2021
pubmed:
22
10
2021
medline:
24
12
2021
Statut:
epublish
Résumé
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 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.
Sections du résumé
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
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.
Identifiants
pubmed: 34671345
doi: 10.3389/fimmu.2021.715053
pmc: PMC8521190
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
715053Informations de copyright
Copyright © 2021 Martin de Frémont, Hirsch, Gimenez de Mestral, Moguelet, Ditchi, Emile, Senet, Georgin-Lavialle, Hanslik, Maurier, Adedjouma, Abisror, Mahevas, Malard, Adès, Fenaux, Fain, Chasset and Mekinian.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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