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Case based discussions
Clinical challenges in a patient with two BRAF V600E-mutated diseases
  1. Ella Willenbacher1,
  2. Wolfgang Willenbacher1,2,
  3. Judith Loeffler-Ragg3
  1. 1 Internal Medicine V, Hematology and Oncology, Medical University of Innsbruck, Innsbruck, Austria
  2. 2 Oncotyrol, Center for Personalized Cancer Medicine, Innsbruck, Austria
  3. 3 Internal Medicine II, Pneumology, Innsbruck Medical University, Innsbruck, Austria
  1. Correspondence to Dr Ella Willenbacher, Internal Medicine V, Hematology and Oncology, Innsbruck Medical University, Innsbruck 6020, Austria; ella.willenbacher{at}

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EW: A 51-year-old Caucasian male smoker (>30 pack-year) was referred due to generalised lymphadenopathy and disseminated, apical accentuated pulmonary nodules (up to 12 mm) on CT scans that demonstrated an elevated 18F-FDG uptake. There was a history of childhood pulmonary tuberculosis with ongoing positivity in the interferon-gamma release assay. The patient had night sweats and frequent coughs.

Lymph node and bone marrow biopsies demonstrated infiltration by a small cell lymphocytic lymphoma-Non Hodgkin Lymphoma (SCL-NHL) with chronic lymphocytic leukemia (CLL-like) immunophenotype (Matutes score 4/5) staged as Ann Arbor IV B disease (figure 1A,B).

Figure 1

Figure demonstrates results of the pathological and molecular analysis of biopsies from a lymph node (LN) affected by a small cell lymphocytic lymphoma and a pulmonary biopsy (PB) of the same patient affected by a PLCH. (A) H&E stain x20 of the LN biopsy showing massive infiltration by small lymphocytes, (B) CD23 stain x40 of the same LN biopsy proofing typical CD23 positivity of the lymphoma infiltrate, (C) H&E stain x40 of the PB with histiocytic infiltration, (D) CD1a×10 stain showing typical CD1a positivity of PLCH, (E) Sanger sequencing of the LN biopsy demonstrating presence of the BRAF V600E mutation (data for PB available but not shown), (F) depicting results from panel sequencing of both PLCH and LN proofing the presence of the BRAF V600E mutation in both with allele frequencies of 26.7% (PLCH) and 35.1% (LN) respectively. High-resolution CT scans (lung window) and dynamics of pulmonary lesions in a 51-year-old patient with PLCH. (G, H) Initial presentation with multiple bilateral up to 12 mm large nodules with irregular border, predominantly in the upper and middle lunge zones. (I, J) Progression of size and number of irregular nodules with beginning cavitation 2 months after. (K, L) Regression of PLCH lesions after 1 month of steroid therapy and reduction of smoking. ACT Adenin-Cytosin-Thymin; TCT Thymin-Cytosin-Thymin (DNA base codes); PLCH, pulmonary …

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  • Contributors Conception and design: EW, WW and JL-R. Development of methodology: EW, WW and JL-R. Acquisition of data: EW, WW and JL-R. Analysis and interpretation of data: EW, WW and JL-R. Writing, review and/or revision of the manuscript: EW, WW andJL-R. Study supervision: EW, WW and JL-R.

  • Funding This work was supported by the Krebsforschungsverein Tirol, a registered charity.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.