PDQ (Physician Data Query)

PDQ (Physician Data Query) is the National Cancer Institute’s source of comprehensive cancer information. It contains peer-reviewed, evidence-based cancer information summaries on treatment, supportive care, screening, prevention, genetics, and complementary and alternative medicine. The summaries are regularly updated by six editorial boards. The following PDQ summaries were recently updated:

Harkness EF; Barrow E; Newton K; et al. Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study. J Med Genet 52(8): 553-6, 2015. PMID: 26101330.

The PDQ Genetics of Breast and Gynecologic Cancers and PDQ Genetics of Colorectal Cancer summaries were recently updated to include the results of a study from the United Kingdom composed of clinically referred Lynch syndrome kindreds. The study found a two times higher risk of breast cancer in MLH1 families compared with families with other mismatch repair gene pathogenic variants. To review the summaries, please use the following links: https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq#link/_2275

https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq#link/_2792

Samadder NJ, Neklason DW, Boucher KM, et al. Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. JAMA 315 (12): 1266-75, 2016 Mar 22-29. PMID: 27002448

The PDQ Genetics of Colorectal Cancer summary was recently updated to include the results of a double-blind, randomized, placebo-controlled trial that tested the efficacy of sulindac and erlotinib versus placebo in the treatment of duodenal polyps in 92 individuals with familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). The intent-to-treat analysis demonstrated a median decrease in duodenal polyp burden (sum of diameters) of 8.5 mm in the sulindac/erlotinib arm while there was an 8 mm increase in the placebo arm (P < .001). An ongoing clinical trial is determining whether lower doses of erlotinib alone are sufficient for significantly reducing duodenal polyp burden in FAP and AFAP patients. To review the summary, please use the following link: https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq#link/_2894

Le DT, Uram JN, Wang H, et al.: PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med 372 (26): 2509-20, 2015. PMID: 26028255

The PDQ Genetics of Colorectal Cancer summary was recently updated to include the results of a study of Lynch syndrome patients who had treatment-refractory, progressive, metastatic colorectal cancer and were treated with pembrolizumab, an anti-PD-1 immune checkpoint inhibitor. In this small phase II study, 32 patients with colorectal cancer (11 were mismatch repair deficient [dMMR], 21 were MMR proficient [pMMR], and 9 others had noncolorectal dMMR tumors) were treated with intravenous pembrolizumab every 14 days. The immune-related response among evaluable patients was 40% (4 of 10) for dMMR colorectal tumors, 0% (0 of 18) for pMMR colorectal tumors, and 71% (5 of 7) for non-colorectal dMMR tumors. The immune-related progression-free survival (PFS) was 78% (7 of 9) in patients with dMMR colorectal tumors, 11% (2 of 18) in patients with pMMR colorectal tumors, and 67% (4 of 6) in patients with non-colorectal dMMR tumors. The dMMR tumors had an average of 24 times more somatic variants than the pMMR tumors. Additionally, in this study, somatic variant load was associated with prolonged PFS. The authors concluded that MMR status predicted clinical benefit from immune checkpoint blockade with pembrolizumab. To review the summary, please use the following link: https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq#link/_2897

The PDQ Pediatric Treatment Board recently completed a comprehensive review of the Childhood Ependymoma Treatment summary. The Board conducted a review of the published literature and updated the citations. To review the summary, please use the following link: https://www.cancer.gov/types/brain/hp/child-ependymoma-treatment-pdq

The PDQ Pediatric Treatment Board recently completed a comprehensive review of the Retinoblastoma Treatment summary. The Board conducted a review of the published literature and updated the citations. To review the summary, please use the following link: https://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq