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. Author manuscript; available in PMC: 2014 Nov 10.
Published in final edited form as: Genes Chromosomes Cancer. 2014 Mar 3;53(6):475–486. doi: 10.1002/gcc.22159

Figure 2. SMARCB1 homozygous deletion in a distal-type epithelioid sarcoma arising in a patient with constitutional SMARCB1 deletion (ES6).

Figure 2

Figure 2

(A,B). Loss of both SMARCB1 alleles (red signals), while retaining 2 copies of the control gene EWSR1 (green) in the tumor cells. (C) The adjacent normal tissue (keratinocytes, skin) shows loss of one SMARCB1 copy and retention of the two green control copies. (D) Scatter Plot of the log2 ratio signals captured with the probes targeting chromosome 22 (aCGH, Agilent) of tumor ES6. aCGH confirms the presence of deletions on 22q, one of which encompasses SMARCB1 (marked with a line) on 22q11. (E) Scatter Plot of the log2 ratio signals captured with the probes targeting 22q11 locus. Copy number altered regions are highlighted in brown; SMARCB1 location is indicated with *. (F) aCGH whole genome profile in normal fat of ES6 is unremarkable, except for a 3Mb somatic deletion in long arm of chromosome 22. (G) Scatter Plot of the log2 ratio signals captured with the probes targeting chromosome 22 in normal fat of ES6. Deletion is indicated in blue and SMARCB1 position with *. Data were achieved with a custom-designed180k Agilent array with high density coverage of 22q11 locus. (H) Scatter Plot of the log2 ratio signals captured with the probes targeting 22q11 locus (aCGH, Agilent) in normal muscle of ES6 patient. SMARCB1 position, indicated on the bottom part, is encompassed within the deleted area.