Table 1 Core cellular processes, signaling pathways, genomic mutations in cancers, and identified imaging correlates
From: Cancer genome landscape: a radiologist’s guide to cancer genome medicine with imaging correlates
Core cellular process | Signaling pathway | Mutation | Cancer | Imaging findings |
|---|---|---|---|---|
Cell fate | Notch | NOTCH1 [27] | ALL, HNSCC, CLL | No specific imaging findings |
HH | PTCH1 [28] | BCC | No specific imaging findings | |
APC | APC | Colon | No specific imaging findings for sporadic mutation. In germline mutation, imaging findings associated with familial adenomatous polyposis or Turcot syndrome (extracolonic polyps, osteomas, dental anomalies, sebaceous cysts, hepatoblastomas, glioblastoma or medulloblastomas, papillary thyroid cancer, desmoid, and soft-tissue tumors) [29] | |
Transcriptional regulation | ER/PR | Breast | Later development and higher frequency of bone metastases on scintigraphy and lower frequency of brain metastases on brain MRI, compared to ER/PR− breast cancer [29, 30]. ER+ breast cancers: smaller with irregular borders and low ADC values on breast MRI; associated with low accuracy of MRI in predicting residual tumor extent after neoadjuvant systemic therapy, when compared to triple negative or HER+ breast cancers [31, 32] | |
AR | Prostate | ADC values in tumor increase after therapy [33]. In castrate-resistant prostate cancer, increasing sclerosis of bone metastases correlates with decreased SUVmax [34] [35]. | ||
Chromatin modification | H2A, H2B, H3, H4 [36] | CTCL | No specific imaging findings | |
Cell survival | RASa | EGFR | NSCLC | More commonly associated with air bronchograms, pleural retraction, small lesion size, and absence of fibrosis, than EGFR-wild type NSCLC [37, 38]. In patients with exon 21 mutation, groundglass opacity morphology and volume are significantly higher than in patients with exon 19 mutation or EGFR wild-type NSCLC [39]. More commonly spiculated morphology and more commonly present with bone and lung metastases compared to its ALK-mutated counterpart [40] |
Colon | Initial 20% decrease in tumor size after 8 weeks of cetuximab correlates with better overall response and longer progression-free survival [41] | |||
HER2 | Breast | Tend to be multicentric and multifocal with nodal involvement. More commonly associated with liver metastases than HR+ breast cancer. Increased risk of central nervous system relapses particularly if already treated with trastuzumab [42] | ||
NSCLC | Disseminated lung nodules and tumor excavation patterns observed with high frequency [43] | |||
KIT | GIST | GIST with KIT exon 11 mutations are commonly gastric in origin, shows better tumor response on follow-up imaging and lower rates of disease recurrence following treatment with imatinib compared to GIST with exon 9 mutations, which more commonly originates from small bowel [24, 25, 44, 45]; a sizeable proportion of these patients will develop resistance to treatment within six months due to secondary mutations in exon 13 or 17 [52] | ||
KRAS | NSCLC | Round lesion shape, nodules in non-tumor lobes more common than KRAS-wild type NSCLC [37] | ||
Colon | KRAS mutation associated with lung and brain metastases, and recurrence in lungs [46, 47] | |||
VEGF-A | HCC, RCC, hypervascular tumors | Hypervascularity at contrast-enhanced CT/MR/US [29] | ||
MAPKa | BRAF MEK | Melanoma | Response to BRAF/MEK inhibitors combination therapy | |
BRAF | Colon | Decreased response to EGFR inhibitors compared to wild-type [35] | ||
STATa | JAK2 | Polycythemia vera | No specific imaging findings | |
PI3K | PIK3CA, AKT1, mTOR | CLL, RCC, breast, neuroendocrine | No specific imaging findings | |
Cell cycle/apoptosis | CDK4/6 | Breast, ovarian | No specific imaging findings | |
BCL-2 | CLL | No specific imaging findings | ||
TGF-β | TGFB1 | Breast, metastatic cancers | No specific imaging findings | |
Genome maintenance | DNA damage control | BRCA1, BRCA2 TGFB1 | Breast | Predilection for posterior breast and prepectoral region. Fibroadenoma-like benign morphologic features such as oval/round shape and smooth margins, or non-mass like enhancement on MRI for BRCA1-mutated breast cancer [48]. Low prevalence of calcifications on mammogram in BRCA1-mutated breast cancer, more common with BRCA2 mutation [48] |
Ovarian | Commonly shows peritoneal disease, peritoneal spread of disease in the gastrohepatic ligament, supradiaphragmatic lymphadenopathy and mesenteric involvement on CT [49] |