TESTING STRATEGY

Guidelines at a Glance

ASCO Endorses CAP’s Guidelines for HPV Testing in Head and Neck Carcinomas

The American Society of Clinical Oncology has endorsed the clinical guidelines developed by the College of American Pathologists for human papillomavirus (HPV) testing with head and neck cancers.

HPV tumor status should be determined for newly diagnosed oropharyngeal squamous cell carcinomas, with testing performed by surrogate marker p16 immunohistochemistry either on the primary tumor or from cervical nodal metastases if an oropharyngeal primary tumor is present. Results are positive with at least 70 percent nuclear and cytoplasmic expression at least moderate to strong intensity. Confirmatory testing should be at the discretion of the pathologist and/or treating clinician.

HPV tumor status is not necessary in nonsquamous carcinomas of the oropharynx or non–oropharyngeal squamous cell carcinomas of the head and neck. If there is uncertainty of histologic type or a poorly differentiated oropharyngeal tumor is nonsquamous, HPV tumor status testing should be at the discretion of the pathologist and/or treating clinician.

USPSTF Reaffirms Syphilis Screening in All Pregnant Women

The U.S. Preventive Service Task Force reaffirms its 2009 recommendation for syphilis screening early in pregnancy, concluding that there is convincing evidence that screening for syphilis infection in pregnant women provides substantial benefit. If a woman has not received prenatal care prior to delivery, she should be tested at delivery.

Untreated syphilis infection in pregnant women can be transmitted to the fetus (congenital syphilis) causing significant mortality and morbidity in infants (e.g., bone deformities and neurologic impairment). According to the U.S. Centers for Disease Control and Prevention, syphilis increased from 2012 to 2106 by 87 percent.

USPSTF Updates Cervical Cancer Screening Strategies

The U.S. Preventive Service Task Force (USPSTF) recently updated its cervical cancer screening recommendations. The USPSTF maintains its guidance that women aged 21 to 29 years should still receive cervical cytology screening—a Pap test—every three years. However, the task force now gives women aged 30 to 65 years a choice in screening strategy: a Pap every 3 years, a high-risk human papillomavirus (hrHPV) test every five years, or a Pap plus HPV test every five years.

The USPSTF recommends against screening for cervical cancer in women younger than 21 years or in women older than 65 years who are not at high risk for cervical cancer or who have had adequate prior screening. Similarly, the task force recommends against screening for cervical cancer in women who have had a hysterectomy with removal of the cervix and do not have a history of a high-grade precancerous lesion or cervical cancer.

AMP Defines Genes For Chronic Myeloid Neoplasm Panels

The Association for Molecular Pathology (AMP) has identified critical genes for inclusion in high-throughput sequencing testing panels for chronic myeloid neoplasms (CMNs). In response to the “recent explosion of literature” regarding the clinical relevance of small DNA variants in CMNs, the AMP CMN Working Group conducted a thorough review of the literature to identify evidence of clinical utility for gene inclusion. This list of minimum recommended genes includes: ASXL1, BCOR, BCORL1, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, and ZRSR2.

With the increasing use of targeted therapies, high-throughput sequencing remains critical for patient management. But the work group acknowledges new evidence is being rapidly produced. So, this list will evolve with new insights into the effects of combinations of biomarkers on specific clinicopathologic characteristics of CMNs.

Genetic Testing Should Be Standard of Care for Familial Hypercholesterolemia

The American College of Cardiology scientific expert panel, convened by the Familial Hypercholesterolemia Foundation, recommends that genetic testing become the standard of care for patients with definite or probable familial hypercholesterolemia (FH), as well as for their at-risk relatives.

FH is common, potentially fatal, but treatable. Yet, it remains underdiagnosed. The panel recommends that testing should include the genes encoding the low-density lipoprotein receptor, apolipoprotein B, and proprotein convertase subtilisin/kexin 9, as well as any other genes may also need to be considered based on patient phenotype. The panel expects that such testing will result in greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.

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