Comprehensive serial molecular profiling of an “N of 1” exceptional non-responder with metastatic prostate cancer progressing to small cell carcinoma on treatment

Table 3 SMAD4 mutation and MYCL1 amplification frequency in prostate cancer NGS and copy number profiling studies available in cBioPortal

Study	Sample types	Cases with mutation data (n)	Cases with CNA data (n)	Cases with SMAD4 mutations (%)	Cases with MYCL amplifications (%)
Prostate (Broad/Cornell 2013)	PCa	57	56	1 (1.8 %)	0 (0 %)
Prostate (TCGA 2015)	PCa	333	492	3 (0.9 %)	0 (0 %)
Prostate (Broad/Cornell 2012)	PCa	112	109	1 (0.9 %)	0 (0 %)
Prostate (MSKCC 2014)	PCa	N/A	104	N/A	0 (0 %)
Prostate (MICH)	PCa and CRPC	61	61	1 (1.6 %)	0 (0 %)
Prostate (MSKCC 2010)	PCa and CRPC	103	194	0 (0 %)	0 (0 %)
Prostate (SU2C)	CRPC	150	150	0 (0 %)	0 (0 %)
Hovelson et al. 2015	PCa and CRPC	N/A*	116	N/A	1^ (0.8 %)
Total		816	1282	6 (0.7 %)	1 (0.08 %)

cBioPortal was queried for SMAD4 mutations and MYCL amplifications in prostate cancer tissue profiling studies. Sample types (localized untreated prostate adenocarcinoma [PCa] and/or castration-resistant prostate cancer [CRPC], the number of cases with mutation or copy number alteration (CNA) data, and the number (and %) of cases with SMAD4 mutations and MYCL amplifications are given
^{^,}*Data from our recent targeted NGS study (Hovelson et al. 2015) which assessed MYCL but not SMAD4 is also included. The MYCL amplified case in that study was small cell/neuroendocrine prostate cancer (NePC). Totals from cBioPortal and our previous study for each parameter is given

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