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