Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.

PURPOSE: In high-income countries, 2%-10% of tumor genomic profiling (TGP) reports reveal incidental pathogenic germline variants. A third of these patients would not qualify for genetic testing on the basis of current guidelines. Our study determined the prevalence of potentially pathogenic germline variants (PPGVs) in TGP results of adult patients with solid malignancies in the Philippines. METHODS: Annotated reports of patients with solid cancers who underwent TGP using FoundationOne or FoundationOne Heme between January 2021 and July 2023 were reviewed. PPGV criteria include having a variant allele frequency of >30% and were categorized as (1) high penetrance gene (HP), founder variant (FV), or variant associated with clinical presentation (VA). Pathogenicity was crosschecked through the ClinVar database. RESULTS: Of 446 patients, 13 PPGV variants were found in 50 (11.2%) patients at a median age of 60.5 years. Of them, 28 (56%) had HP (BRCA1, BRCA2, MSH2, MSH6, MLH1, RAD51C, RAD51D), 25 (50%) patients had VA (APC, SMAD4, CDH1, CDKN2A, PTEN), and two patients with lung cancer had a FV (EGFR p.Thr790Met). Six patients had more than one PPGV. PPGVs were primarily found in patients with colorectal (42% of 50 patients with PPGVs), breast (16%), ovarian (6%), and lung (6%) cancer (P < .001). HP genes were mostly found in female patients (71.4%; P = .03). CONCLUSION: With a PPGV prevalence of 11% in this study, it is important to recognize PPGVs as it can prompt genetic counseling and confirmatory germline testing.

Physician compliance with platelet usage criteria.

CONTEXT: Platelet transfusions are used in clinical practice as prophylaxis or to treat bleeding thrombocytopenic patients. This procedure also carries risks and costs and must be allocated appropriately. OBJECTIVE: To evaluate physician compliance with the platelet transfusion criteria in our tertiary care academic institution. DESIGN: We evaluated platelet unit releases from the transfusion service for 4 months, and we retrieved pretransfusion platelet counts. Reasons for transfusion were obtained by reviewing patient charts and talking to clinicians. Compliance with hospital criteria for platelet use was determined. RESULTS: Platelets were given to 113 patients in 282 transfusion episodes. Criteria were not met for 32 (11%) of 282 platelet transfusions. Justifiable reasons for transfusion at platelet counts of greater than 10 x 10(3)/microL included bleeding risk from oral ulcers, other risks of bleeding in patients who were transfused before discharge, and antiplatelet drug use in cardiac surgery patients. Reasons for transfusion at platelet counts greater than 10 x 10(3)/ microL that were not justified include transfusion at a platelet count of 110 x 10(3)/microL to a lung cancer patient with no platelet dysfunction and transfusion to 4 septic patients with platelet counts of 70 to 90 x 10(3)/microL. CONCLUSIONS: This study showed 89% physician compliance with hospital platelet transfusion criteria. Transfusion-medicine specialists concurred that strict adherence to hospital blood usage criteria was not applicable for 9.2% of these patients; however, 5 (1.8%) of 282 platelet transfusions were not indicated and could have been prevented by transfusion medicine physician intervention.