Patient 4: heterozygous BRIP1 GV
Patient 4 noticed a lesion on the thigh at age 11 years and was seen by dermatology after continued growth. A shave biopsy revealed SM with somatic BRIP1 variant and ALK rearrangement. A WLE with SLNB was performed, identifying microscopic nodal involvement. Therapy included surgery only. Patient 4 has been disease free for five years. Germline testing identified a maternally inherited BRIP1 variant. Cascade testing prompted his mother to consider risk reducing salpingo-oophorectomy.5