Table 2.

Rare tumor histologic types and relative frequencies in our dataset along with potentially targetable genomic aberrations

DiseaseNo. of patients/95PercentRate/100,000Potential targets
1Adenoid cystic carcinoma1212.63%0.12KDR, KIT, PDGFRA, NOTCH, PIK3R1, PIK3CB
2Cholangiocarcinoma77.37%0.04FGFR2, PIK3CA, BRAF
3Metaplastic breast carcinoma66.32%0.06PIK3CA, NOTCH, PIK3R1, PTEN, MCL1
4Salivary gland carcinoma66.32%1.31AKT, CDK4, BRAF, NOTCH, RET
5Gallbladder adenocarcinoma55.26%4.37FGFR2
6Soft tissue histiocytosis, non-Langerhans (ECD)55.26%0.05BRAF, MAP2K1
7Small intestine carcinoid44.21%0.37FGFR3
8Thyroid anaplastic carcinoma33.16%0.17PIK3CA, BRAF
9Thyroid follicular carcinoma (Hurthle cell carcinoma)33.16%0.57
10Mesothelioma33.16%1.9
11Appendix adenocarcinoma22.11%0.97FLT3
12Brain glioblastoma22.11%2.52BRAF, PIK3C2B, PTEN
13Brain medulloblastoma22.11%0.11BRCA1
14Kidney medullary carcinoma22.11%0.01
15Pancreas neuroendocrine tumor22.11%1.22
16Testis germ cell tumor (non-seminoma)22.11%1.21PIK3CA
17Thymus thymoma (NOS)22.11%0.13
18Vagina squamous cell carcinoma22.11%1.5EGFR, FGF4, PTEN
19Bladder adenocarcinoma (urachus)22.11%0.29PIK3CA, FLT3
20Malignant mixed MĂĽllerian tumor22.11%0.36FGFR2, PTEN
21Kidney medullary carcinoma22.11%0.44
22Adrenal gland cortical carcinoma11.05%0.18
23Anus squamous cell carcinoma11.05%1.09
24Brain atypical teratoid rhabdoid tumor11.05%0.01
25Brain meningioma11.05%0.15
26Cervix neuroendocrine carcinoma11.05%0.06ALK
27Ovary/fallopian tube serous carcinoma11.05%1KDR, PIK3CA, NOTCH1, FLT3, MCL1
28Head and neck lymphoepithelioma11.05%0.01MCL1
29Head and neck neuroendocrine carcinoma11.05%0.1
30Kidney chromophobe carcinoma11.05%0.01
31Lung large cell neuroendocrine carcinoma11.05%4.01FGFR3, PIK3CA
32Ovary clear cell carcinoma11.05%0.32PIK3CA
33Ovary granulosa cell tumor11.05%0.12KDR
34Ovary neuroendocrine carcinoma11.05%0.01
35Ovary sex-cord stromal tumor11.05%0.13
36Pancreas islet cell tumor11.05%0.03
37Prostate neuroendocrine carcinoma11.05%0.01
38Rectum squamous cell carcinoma11.05%0.07FGFR3, PIK3CA
39Skin Merkel cell carcinoma11.05%0.12
40Thyroid medullary carcinoma11.05%0.11RET
  • NOTE: Incidence rate is obtained from European Society of Medical Oncology and represents cases throughout European Union. See Materials and Methods for reference.

  • Abbreviations: ECD, Erdheim–Chester disease; NOS, not otherwise specified.