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. 2014 Aug 22;124(19):3016–3019. doi: 10.1182/blood-2014-04-570937

Table 1.

Characteristics of NRAS- and PIK3CA-mutant ECD patients and those not identified as having BRAF, NRAS, or PIK3CA mutations*

Age (y/Gender) Principal organs involved by histiocytosis Tissue biopsy site % Histiocytes in biopsy BRAF p.V600 Other genes Follow up (mo, status at last follow-up)
67/M Heart, aorta, RPF, pleura Peritoneum 70 Wild-type NRAS p. G12D 43, DoD
56/M Aorta, RPF, pleura, bone Pleura 70 Wild-type NRAS p. Q61K 108, AwD
65/M Aorta, pleura Pleura 40 Wild-type NRAS p.Q61R 26, AwD
32/M Aorta, paraparesis Paravertebral 10 Wild-type PIK3CA p.E542K 100, AwD
32/M CNS, visual loss, bone Bone 10 Wild-type PIK3CA p.E545K Not available
29/M RPF, bone Bone 20 Wild-type PIK3CA p.H1047R 50, AwD
62/M CNS, aorta, bone, sinus Perirenal 30 p.V600E PIK3CA p.A1046T 60, AwD
52/M DI, bone, RPF Skin 60 p.V600E PIK3CA p.H1047L 24, AwD
58/M Lung, CNS, X, aorta Skin 50 p.V600E PIK3CA p.H1047L 15, AwD
42/M E, bone, aorta, RPF Orbital 60 p.V600E PIK3CA p.H1047L 30, AwD
53/M CNS, bone Bone 10 Wild-type None detected 17, AwD
49/M RPF, DI, sclerosing cholangitis, sinus Perirenal 20 Wild-type None detected 48, AwD
56/M Lung, bone Bone 40 Wild-type None detected 44, AwD
81/F Aorta, X, skin Skin 50 Wild-type None detected 52, AwD
70/M Aorta, RPF, pleura, skin, arthritis Skin 30 Wild-type None detected 18, AwD
65/M Lung, bone Bone 40 Wild-type None detected 72, AwD
55/M Heart, RPF, lung, bone, X Skin 70 Wild-type None detected 33, AwD
54/M Mesenteric Mesentery 40 Wild-type None detected 27, AwD
39/M CNS, E, skin Skin 90 Wild-type None detected 134, AwD
42/F Not available Bone 40 Wild-type None detected Not available
30/M Heart, aorta, paraparesis, liver Paravertebral 30 Wild-type None detected 20, AwD

AwD, alive with disease; CNS, central nervous system; DI, diabetes insipidus; DoD, dead of disease; E, exophthalmos; RPF, retroperitoneal fibrosis; X, xanthelasma.

*

The 42 ECD patients with BRAF p.V600E mutations, but without PIK3CA mutation, are not included in this table. For 17 other BRAFV600E/NRAS–wild-type ECD patients, PIK3CA, KRAS, and AKT1 hotspot mutations were not investigated, because biopsies and tumor DNA samples were exhausted.

Age at time of diagnosis.