Figure 4.
Molecular and clinical findings in patients with rare BRAF alterations. (A) Genome-wide coverage of fragments retrieved from a FFPE-TLC experiment targeting BRAF on a FFPE tissue sample from a patient from our cohort. A rearranged region to the BRAF gene (pink box) on chromosome 7 (Chr7) was identified by the concentration of fragments clustered around the BICD2 gene (yellow box) on chromosome 9. (B) Butterfly plot uncovering the reciprocal BICD2::BRAF rearrangement. Proximity-ligation products between the target gene (BRAF) and rearrangement partner (BICD2) are depicted (in green). Strand directions are indicated by arrows. See supplemental Figure 10 for details about FFPE-TLC technology. (C) Illustration of the identified BICD2::BRAF fusion. (D) Circos plot depicting the 3 distinct BRAF rearrangements identified in patients from our cohort (in orange), as well as other BRAF rearrangements previously identified in patients with LCH (in gray).17,25,57-59 (E) Clinical and conventional radiography images of a patient from our cohort with BRAFV600D-mutated SS-UFB LCH, who had a single osteolytic lesion in the right clavicle with remarkable abscess-like soft tissue extension through the skin. (F) Clinical and magnetic resonance imaging images of a patient from our cohort with BRAFV600D-mutated SS-MFB LCH, who had a relapse of MFB disease with a remarkable orbital lesion with clear skin changes. (G) Coronal image of a chest computed tomography scan showing atypical pulmonary lesions in the patient with a BICD2::BRAF fusion. Shown are multiple solid nodules in both lungs, including a very large tumor in the right upper lobe measuring 55 × 18 × 15 mm. A biopsy of this tumor excluded cooccurrence of lymphoma or another disease and revealed clusters of CD1a+ CD207+ cells, compatible with LCH. (H) Coronal image of a chest computed tomography scan showing many large cystic lung lesions in a child with high-risk LCH harboring both BRAFV600E and BRAFR603Q mutations. Professional illustration of panel C made by ProteinPaint software.60 mb, megabase.

Molecular and clinical findings in patients with rare BRAF alterations. (A) Genome-wide coverage of fragments retrieved from a FFPE-TLC experiment targeting BRAF on a FFPE tissue sample from a patient from our cohort. A rearranged region to the BRAF gene (pink box) on chromosome 7 (Chr7) was identified by the concentration of fragments clustered around the BICD2 gene (yellow box) on chromosome 9. (B) Butterfly plot uncovering the reciprocal BICD2::BRAF rearrangement. Proximity-ligation products between the target gene (BRAF) and rearrangement partner (BICD2) are depicted (in green). Strand directions are indicated by arrows. See supplemental Figure 10 for details about FFPE-TLC technology. (C) Illustration of the identified BICD2::BRAF fusion. (D) Circos plot depicting the 3 distinct BRAF rearrangements identified in patients from our cohort (in orange), as well as other BRAF rearrangements previously identified in patients with LCH (in gray).17,25,57-59 (E) Clinical and conventional radiography images of a patient from our cohort with BRAFV600D-mutated SS-UFB LCH, who had a single osteolytic lesion in the right clavicle with remarkable abscess-like soft tissue extension through the skin. (F) Clinical and magnetic resonance imaging images of a patient from our cohort with BRAFV600D-mutated SS-MFB LCH, who had a relapse of MFB disease with a remarkable orbital lesion with clear skin changes. (G) Coronal image of a chest computed tomography scan showing atypical pulmonary lesions in the patient with a BICD2::BRAF fusion. Shown are multiple solid nodules in both lungs, including a very large tumor in the right upper lobe measuring 55 × 18 × 15 mm. A biopsy of this tumor excluded cooccurrence of lymphoma or another disease and revealed clusters of CD1a+ CD207+ cells, compatible with LCH. (H) Coronal image of a chest computed tomography scan showing many large cystic lung lesions in a child with high-risk LCH harboring both BRAFV600E and BRAFR603Q mutations. Professional illustration of panel C made by ProteinPaint software.60 mb, megabase.

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