Table 1.
Patients and skin lesion characteristics.
| Patients’ characteristics (n = 14) | |
|---|---|
| Male n (%) | 8 (57%) |
| Median age at MDS/CMML diagnosis, years old (range) | 70 (62–81) |
| Median age at skin lesions diagnosis, years old (range) | 69 (30–82) |
| Skin lesions preceding MDS/CMML n (%) | 5 (36%) |
| MDS subtypes: | |
| MDS-MLD (%) | 3 (22%) |
| MDS-ULD (%) | 1 (7%) |
| MDS-EB (%) | 1 (7%) |
| MDS/MPN (%) | 2 (14%) |
| CMML (%) | 7 (50%) |
| Abnormal karyotype (%) | 5 (36%) |
| IPSS n (%): | |
| Low risk | 7 (50%) |
| Intermediate-1 | 6 (43%) |
| Intermediate-2 | 1 (7%) |
| High | 0 |
| Extracutaneous manifestations n (%): | 7 (50%) |
| Fever (%) | 5 (36%) |
| Arthralgia or arthritis (%) | 6 (43%) |
| Skin lesion characteristics | |
| Total number of biopsies | 14 |
| Diagnosis after clinic-pathological correlation: | |
| H-SS | 4 |
| CMML cutis | 3 |
| Erdheim Chester disease/CMML cutis | 2 |
| Kikuchi-Fujimoto lupus | 1 |
| Neutrophilic folliculitis | 1 |
| Erythema nodosum | 1 |
| Pyoderma gangrenosum | 1 |
| Livedo reticularis with inconclusive skin biopsy | 1 |
| Next-generation sequencing | |
| Positive NGS on hematopoietic samples | 14 (100%) |
| Number of mutations, median (range) | 2 (1–8) |
| Positive NGS on skin biopsies | 12 (86%) |
| Percentage of myeloid cells, median (range) | 20% (5–>50%) |
| Number of mutations, median (range) | 3.5 (1–7) |
| Diagnosis of skin clonal infiltrate following NGS | 12 (86%) |
| Among positive NGS in skin biopsies: | |
| Same main mutations in both tissues | 8 (67%) |
| Patients with at least one mutation in skin absent from blood/BM | 4 (33%) |
| Highest VAF>10% | 10 (83%) |
| Including VAF>20% | 6 (50%) |
| Most frequent mutations: | |
| TET2 | 4 (33%) |
| DNMT3A | 4 (33%) |
CMML, chronic myelomonocytic leukemia; EB, excess blasts; ECD, Erdheim-Chester disease; IPSS, international prognostic scoring system; MDS, myelodysplastic syndromes; MLD, multi-lineage dysplasia; MPN, myeloproliferative neoplasm; NGS, next-generation sequencing; (H)-SS, (Histiocytoid-)Sweet’s syndrome; ULD, uni-lineage dysplasia; VAF, variant allele frequency.