PMC9807477_01
Upper and middle panel: Multiple hemangiomas of the skin a, bone marrow biopsy at initial presentation revealed polyclonal plasma cells (400 x magnification) b, with progression to multiple myeloma (400 x magnification) c. Hematoxylin-eosin staining of lymph node with onion skin layers (10 x magnification) d, staining of dendritic reticulum cells (KiM4P 10 x magnification) e, and of lambda light chain (10 x magnification) f. Lower panel: Electrophysiological studies with no pathological findings on initial presentation g-h, decrease in conduction velocity and elongation of F-wave latencies after progression into multiple myeloma g-h. NR, no response. NGS-analysis of initial lymph node biopsy and bone marrow after progression into multiple myeloma demonstrating differential alteration of DTX1 in lymph node biopsy and GNAS in bone marrow biopsy on progression into multiple myeloma. EP300, JARID2, PC, PD-L2, and SETBP1 alterations were found in both biopsies. VAF, variant allele frequency i
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Fig1
A 67-year-old woman presented with weight loss, generalized neuropathic pain, disseminated hemangiomas of the skin (Fig. 1a), and enlarged mediastinal lymph nodes. PCR of the immunoglobulin heavy chain and light chain gene, monoclonal rearrangement was demonstrated, identifying CD and plasmacytoma as two distinct histological entities. Plasma cell variant of CD was excluded (Fig. 1d-f). In bone marrow biopsy, only polyclonal plasma cells and no cytogenetic aberrations were found (Fig. 1b). Despite symptoms of sensory polyneuropathy, electrophysiological studies did not demonstrate any abnormalities at initial presentation (Fig. 1g-h). Bone marrow biopsy showed progression into multiple myeloma IgA lambda with an increase of plasma cells up to 39% on average (Fig. 1c). Electrophysiological studies revealed a decrease in nerve conduction velocity and elongation of F-wave latencies (Fig. 1g-h). Identical alterations of EP300, JARID2, PC, PD-L2, and SETBP1 were identified in both biopsies (Fig. 1i). This hypothesis is supported by the variant allele frequency (VAF) of the different mutations (Fig. 1i), indicating the presence of EP300, JARID2, PC, PD-L2, and SETBP1 at a clonal level and of GNAS and DTX1 at a subclonal level.