Metastatic Syringocystadenocarcinoma Papilliferum: A Case Report, Tumor Genomic Profiling, and Literature Review

Table 1

Molecular characterization of the patient’s tumor.

Gene	Gene function	Mutation	Mutation description	Targeted therapy
ARID2	Activation of gene expression by nuclear receptors	Q725	Nonsense	None
CDKN2A	Tumor suppressor	p16INK4a Q50	Nonsense	Palbociclib
ERBB4	Cell proliferation and apoptosis	R393W	Missense	Afatinib, Erlotinib, Lapatinib
FAT1	Inhibition of transcriptional activity	G758fs	Frameshift	None
FGF10	Regulation of cell growth, tumor growth and invasion	Amplification	—	None
FGFR1	Regulation of the cell cycle and angiogenesis	Q775	Nonsense	Ponatinib, Pazopanib
GNA11	Modulation of transmembrane signaling system	R183C	Missense	Trametinib
KDM5C	Control gene expression	Q919	Nonsense	None
MAGI2	Inhibition of cell migration and proliferation	Q117	Nonsense	None
NFKBIA	Tumor suppressor	Amplification	—	None
NOTCH1	Regulation of cell fate, proliferation and apoptosis	6181-1G >A	Intronic	None
PIK3CA	Regulation of cell growth, proliferation, and survival	E453K	Missense	Everolimus, Temsirolimus
RAC1	Regulation of tumor angiogenesis, metastasis and cell growth	P29S	Nonsense	None
RICTOR	Encoding an mTOR-binding protein	Amplification	—	Omipalisib
SLIT2	Tumor suppressor	D1445H	Missense	None
TERT	Regulation of chromosomal length	124C >T	Intronic	None
TP53	Tumor suppressor	Q331	Nonsense	Adavosertib
TP53	Tumor suppressor	Q375	Nonsense	Adavosertib