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. 2018 Nov 7;8:16506. doi: 10.1038/s41598-018-34873-y

Table 1.

Clinical details of study participants.

Patient Code Specimen description Sex Age at diagnosis Tissues affected Treatment prior to specimen Age at specimen Disease status at specimen Sequelae, other comments
1 Bone lesion M 68 Bone Previous irradiation at site of and excision of hip lesion 68 Active (AD) Diabetes insipidus from age 55
1 Matched blood
2 Pulmonary lesion M 40 Lung Nil 40 AD Mild pulmonary fibrosis, smoker
2 Matched blood
3 Involved lymph node M 9 Bone, lymph node Nil 9 AD Skull defect
4 Blood M 18 months Skin Nil 13 Non-active (NAD)
5 Blood M 53 Bone, lung, bone marrow Vinblastine/prednisolone 64 NAD Mild pulmonary fibrosis
6 Blood M 39 Lung Vinblastine/prednisolone 52 NAD
7 Blood F 60 Skin Methotrexate/prednisolone 64 NAD Leg scarring
8 Blood F 36 Bone Lesion excision 37 NAD
9 Blood F 25 Bone Vinblastine/prednisolone 42 NAD Ataxia at time of specimen
10 Blood M 41 Skin Nil 41 AD
11 Blood F 39 Bone, lung Nil 39 AD
12 Blood F 34 Lung Biopsy and vinblastine/prednisolone 54 NAD Long term pulmonary fibrosis
13 Bone lesion M 2 Bone Nil 2 AD Mutation in BRAFV600, CNS-risk lesion
13 Matched blood
14 Blood M 8 months Skin, lymph node, liver Nil 22 months AD No detectable mutation in BRAFV600
15 Blood M 10 Bone, skin Cytarabine, prednisolone and vinblastine (ceased 6 months prior to specimen) 12 AD Diabetes insipidus, mutation in BRAFV600
16 Blood M 67 Bone, skin Nil 67 NAD