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.
Subject(s)
Leukemia, Myelomonocytic, Chronic/complications , Leukemia, Myelomonocytic, Chronic/pathology , Myelodysplastic Syndromes/complications , Myelodysplastic Syndromes/pathology , Myeloid Cells/pathology , Skin Diseases/diagnosis , Skin Diseases/etiology , Aged , Aged, 80 and over , Biopsy , Bone Marrow/pathology , Bone Marrow Cells/metabolism , Bone Marrow Cells/pathology , Clonal Evolution/genetics , Disease Management , Female , Gene Expression Profiling , High-Throughput Nucleotide Sequencing , Humans , Leukemia, Myelomonocytic, Chronic/etiology , Male , Middle Aged , Myelodysplastic Syndromes/etiology , Symptom AssessmentABSTRACT
A serrated polyposis syndrome was diagnosed in a 26-year-old female presenting with gastrointestinal symptoms. Screening for other lesions of the gastrointestinal tract showed a serpiginous looking papilla, described as possibly dysplastic. Histological analysis of biopsies showed a serrated lesion. This case describes the first known association between a duodenal serrated lesion and serrated polyposis syndrome. Upper GI screening is probably of little interest in this setting. In patients with upper GI serrated lesions, we recommend screening colonoscopy.
