Erdheim-Chester disease associated with chronic myelomonocytic leukemia harboring the same clonal mutation

Concomitant Erdheim‐Chester disease and chronic myelomonocytic leukaemia: genomic insights into a common clonal origin

“…It is well known that occasional CMML cases have skin infiltration with monocytes, and are frequently characterized by clonal plasmacytoid dendritic cell (DC) nodules in bone marrow biopsies (Lucas et al , ). In a recent case series, next generation sequencing of xathelesmas from three CMML patients showed identical mutations in both the marrow and skin specimen (Bonnet et al , ). However, none of these patients had classic bone or other organ manifestations of ECD other than xanthogranuloma of the eye, which is neither sensitive nor specific for ECD (Kobic et al , ).…”

<p>Erdheim–Chester Disease and Acute Myeloid Leukemia with Mutated <em>NPM1</em> in a Patient with Clonal Hematopoiesis: A Case Report</p>

“…13 Although the cellular origin of ECD is not clear, previous studies have suggested that hematopoietic/myeloid progenitor cells might be the precursors of histiocytic neoplastic cells in both ECD and Langerhans cell histiocytosis (LCH). [6][7][8][9][10][11] Additionally, Papo et al 12 recently reported that 10% of adult patients with non-LCH had a concomitant myeloid neoplasm, mainly chronic myelomonocytic leukemia (CMML), myeloproliferative disorders and myelodysplastic syndromes (MDS). One study reported an ECD/LCH mixed histiocytic neoplasm with an NRAS mutation in ECD/LCH tissue as well as in bone marrow after diagnosis of CMML.…”

“…One study reported an ECD/LCH mixed histiocytic neoplasm with an NRAS mutation in ECD/LCH tissue as well as in bone marrow after diagnosis of CMML. 10 Moreover, two recent studies have shown that ECD is associated with AML. The first reported a patient with mixed histiocytosis and BRAF V600E , TET2, and SRSF2 mutations in LCH cells from skin, and concurrent AML with TET2 and SRSF2 mutations, suggesting a clonal relationship between the two malignancies.…”

“…2,5 The exact cell of origin of ECD is unknown, although some evidence suggest that it arises from myeloid progenitors. [6][7][8][9][10][11] In addition, Papo et al 12 recently showed a high prevalence (10.1%) of concurrent myeloid neoplasms among adult patients with non-Langerhans histiocytosis. We herewith report a patient with clonal hematopoiesis and BRAF V600E mutated ECD who developed BRAF V600E negative acute myeloid leukemia (AML) with mutated NPM1 and FLT3-TKD.…”

Bone marrow findings in Erdheim-Chester disease: increased prevalence of chronic myeloid neoplasms

“…Nevertheless, even a smaller degree of association between two rare entities (ECD and CMML) is unlikely to be fortuitous, especially when demonstrated in three large independent institutional cohorts. Both ECD and CMML have been found to demonstrate perturbations in classical monocytes, [8][9][10][11] which may underlie their coexistence mechanisms. In our series, the molecular findings were similar in two of three cases, one with identical KRAS and ASXL1 mutations in CMML and ECD, and another with JAK2V617F positivity in both the ECD and MPN.…”