Clinical, laboratory and genetic features of Erdheim-Chester disease patients: analysis of a retrospective cohort of two reference centers in Latin America

Figures & data

Table 1. Clinical–molecular characteristics and therapeutic responses in 16 Brazilian patients with Erdheim-Chester disease.

N = 16	Age	Gender	Sites of involvement	BRAF status	Primary therapy	Response
Patient 1	84	Male	Skin, bone, lung, serous membranes	Wild-type	Vemurafenib	Partial response
Patient 2	24	Male	Skin, muscles	Wild-type	Surgery	Partial response
Patient 3	28	Male	Bone, liver, spleen, lymph nodes, CNS	Wild-type	Steroids	Partial response
Patient 4	47	Female	Kidney ‘hairy kidney’	Wild-type	Interferon	Stable disease
Patient 5	64	Female	Skin, bone	Not acessed	Interferon	Stable disease
Patient 6	54	Male	Bone	Wild-type	Interferon	Partial response
Patient 7	52	Female	Skin, bone, CNS and ‘coated aorta’	Wild-type	Steroids and thalidomide	Progressive disease
Patient 8	33	Male	Skin, bone, CNS	Wild-type	Interferon	Partial response
Patient 9	29	Male	Bone, lymph nodes, lung and GIT	Not acessed	Interferon	Partial response
Patient 10	42	Male	CNS, ‘coated aorta’, ‘hairy kidney’	Not accessed	Interferon	Partial response
Patient 11	55	Male	Bone, CNS, ‘hairy kidney’	Wild-type	Interferon	Partial response
Patient 12	55	Female	Bone, lymph nodes, ‘coated aorta’ ‘hairy kidney’	Mutated	Interferon	Partial response
Patient 13	53	Male	Bone, ‘coated aorta’, ‘hairy kidney’	Wild-type	Interferon	Progressive disease
Patient 14	63	Male	Skin, bone, CNS, ‘hairy kidney’	Mutated	Interferon	No response
Patient 15	19	Male	CNS	Wild-type	Interferon	Partial response
Patient 16	55	Male	Skin, bone, lymph nodes	Mutated	Interferon	No response

CNS, central nervous system; GIT, gastrointestinal tract.

Table 2. Diagnosis and characteristics of Brazilian Erdheim-Chester disease patients without bone involvement and/or with involvement of the reticuloendothelial system.

N = 16	Sites of involvement	BRAF status	Biopsy site	Histology and IHC	RE involvement	Diagnostic criteria
Patient 2	Skin, muscles	Wild-type	Skin	Foamy histiocytes, Touton giant cells CD1a-, S100-, CD68+	No	Classic histopathologic and IHC findings
Patient 3	Bone, liver, spleen, lymph nodes, CNS	Wild-type	Bone, lymph node	Foamy histiocytes and fibrosis CD1a-, S100-, CD68+	Yes Lymph node biopsy with classic findings; Spleen/liver presumed by PET-CT	Classic histopathologic and IHC findings plus typical symmetric bone involvement
Patient 4	Kidney ‘hairy kidney’	Wild-type	Kidney	Foamy histiocytes CD1a-, S100+, CD68+, XIIIa+	No	Classic histopathologic and IHC findings plus perinephric stranding
Patient 9	Bone, lymph nodes, lung and GIT	Not acessed	Bone	Histiocytic proliferation, CD1a-, S100- CD68+	Yes, Lymph node involvement presumed by PET-CT	Histopathologic and IHC plus symmetric bone involvement of lower extremities
Patient 10	CNS, ‘coated aorta’, ‘hairy kidney’	Not accessed	CNS	Foamy histiocytes, CD1a-, S100-, CD68+	No	Classic histopathology plus periaortic infiltrates and perinephric stranding
Patient 12	Bone, lymph nodes, ‘coated aorta’, ‘hairy kidney’	Mutated	Bone	Histiocytic proliferation, fibrosis, CD1a-, S100-, CD68+	Yes, Lymph node involvement presumed by PET-CT	Classic histopathology, molecular criteria plus classic clinical findings
Patient 15	CNS	Wild-type	CNS	Histiocytic proliferation, Touton cells, CD1a-, S100-, CD68+	No	Classic histopathologic and IHC findings plus atrophic cerebellum involvement
Patient 16	Skin, bone, lymph nodes	Mutated	Skin, bone	Foamy histiocytes, CD1a-, S100-, CD68+, XIIIa+	Yes, lymph node involvement presumed by PET-CT	Classic histopathology, molecular criteria plus symmetric bone involvement

IHC: immunohistochemistry, RE: reticuloendothelial involvement (lymph nodes, spleen, liver or bone marrow), CNS: central nervous system.