We describe a 67-year-old woman with myelodysplasia-related acute myeloid leukemia (AML-MR) associated with mature plasmacytoid dendritic cell proliferation (MPDCP), involving bone marrow and skin. Bone marrow showed 20–25% CD34⁺ myeloblasts with a distinct CD123⁺/CD4⁺/CD303⁺ plasmacytoid dendritic component, while the skin biopsy revealed a pure MPDCP without myeloblasts, indicating two clearly separated neoplastic populations. Next-generation sequencing of bone marrow and skin identified an identical mutational profile (including SF3B1-K666N, FLT3-D835H, RUNX1 frameshift variants, and low-VAF TP53 mutation), demonstrating a common clonal origin.
One disease, two faces: clonally-related AML and MPDCP with skin involvement / Martino, Giovanni; Cimino, Gaetano; Caridi, Matteo; Perta, Giuseppe; Cardinali, Valeria; Sciabolacci, Sofia; Quintini, Martina; Matteucci, Caterina; Venanzi, Alessandra; Tiacci, Enrico; Ascani, Stefano; Mecucci, Cristina; Martelli, Maria Paola. - In: ANNALS OF HEMATOLOGY. - ISSN 0939-5555. - 102:10(2023), pp. 2969-2971. [10.1007/s00277-023-05377-1]
One disease, two faces: clonally-related AML and MPDCP with skin involvement
Cimino, Gaetano;Caridi, Matteo;Perta, Giuseppe;Venanzi, Alessandra;Tiacci, Enrico;Martelli, Maria Paola
2023
Abstract
We describe a 67-year-old woman with myelodysplasia-related acute myeloid leukemia (AML-MR) associated with mature plasmacytoid dendritic cell proliferation (MPDCP), involving bone marrow and skin. Bone marrow showed 20–25% CD34⁺ myeloblasts with a distinct CD123⁺/CD4⁺/CD303⁺ plasmacytoid dendritic component, while the skin biopsy revealed a pure MPDCP without myeloblasts, indicating two clearly separated neoplastic populations. Next-generation sequencing of bone marrow and skin identified an identical mutational profile (including SF3B1-K666N, FLT3-D835H, RUNX1 frameshift variants, and low-VAF TP53 mutation), demonstrating a common clonal origin.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
