Fig. 1: Spectrum of SMARCB1 genomic alterations and histotypes.
From: The genetic landscape of SMARCB1 alterations in SMARCB1-deficient spectrum of mesenchymal neoplasms
A Oncoprint showing various soft tissue and bone tumors with SMARCB1 copy number alterations detected by MSK-IMPACT or FISH and SMARCB1 point mutations detected by MSK-IMPACT, their corresponding histotypes, SMARCB1 (INI1) IHC status, with patient age and sex, categorized into: SMARCB1-deficient/pathogenic sarcomas (red), SMARCB1-altered but likely non-pathogenic sarcomas, including SMARCB1-mutated or -deleted (blue) and SMARCB1-amplified sarcomas (green). B FISH showing homozygous deletion of SMARCB1 (22q11, red probe) in a case of epithelioid sarcoma (left panel) and a case of epithelioid malignant peripheral nerve sheath tumor (MPNST) (right panel). EWSR1 (22q12, green probe) serves as the reference probe. Unaffected (non-neoplastic) nuclei show 2 red signals plus 2 green signals. In affected (SMARCB1-deficient) nuclei, depending on the extent of 22q deletion, there could be 0 red signals plus 2 green signals, or 0 red signals plus 1 green signal.
