Objective: A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for BRCA1/2 testing. However, there are limited studies of the analytical performances according to various sample types. The aim of this study is to propose a strategy for routine BRCA1/2 next-generation sequencing (NGS) screening based on analytical performance according to different sample types. Methods: We compared BRCA1/2 NGS screening assay using buffy coat, fresh-frozen (FF) and formalin-fixed paraffin-embedded (FFPE) from 130 samples. Results: The rate of repeated tests in a total of buffy coat, FF and FFPE was 0%, 8%, and 34%, respectively. The accuracy of BRCA1/2 NGS testing was 100.0%, 99.9% and 99.9% in buffy coat, FFPE and FF, respectively. However, due to the presence of variant allele frequency (VAF) shifted heterozygous variants, tumor materials (FFPE and FF) showed lower sensitivity (95.5%–99.0%) than buffy coat (100%). Furthermore, FFPE showed 51.4% of the positive predictive value (PPV) on account of sequence artifacts. When performed in the post-filtration process, PPV was increased by approximately 20% in FFPE. Buffy coat showed 100% of sensitivity, specificity and accuracy in BRCA1/2 NGS test. Conclusions On the comparison of the analytical performance according to different sample types, the buffy coat was not affected by sequencing artifacts and VAF shifted variants. Therefore, the blood test should be given priority in detecting germline BRCA1/2 mutation, and tumor materials could be suitable to detect somatic mutations in OC patients without identifying germline BRCA1/2 mutation.

Multiple primary lung cancers are characterized as either synchronous (detected or resected simultaneously) or metachronous (defined by a time interval between the detection of a subsequent primary lesion). The diagnosis of multiple primary lung cancers requires the temporal, histologic, and anatomic classification of tumors or simultaneous detection of two tumors. The incidence of multiple primary lung cancers has been increasing recently due to the widespread use of imaging modalities and life extension. Here, we report a 65-year-old male patient with multiple primary lung cancers comprising three different cell types (adenocarcinoma, squamous cell carcinoma, and small cell carcinoma).
Aged ; Carcinoma, Squamous Cell ; Classification ; Diagnosis ; Humans ; Incidence ; Life Expectancy ; Lung Neoplasms* ; Lung* ; Male ; Neoplasms, Multiple Primary ; Neoplasms, Second Primary

Artifacts ; Blood Buffy Coat ; Gene Frequency ; Hematologic Tests ; High-Throughput Nucleotide Sequencing ; Humans ; Mass Screening ; Ovarian Neoplasms ; Sensitivity and Specificity ; Tissue Preservation

Acute lymphocytic leukemia (ALL) is uncommon lymphoid malignancy in dogs, and its diagnosis is challenging. A 14-year-old spayed female mixed breed dog was transferred to a veterinary medical teaching hospital for an immediate blood transfusion. The dog showed lethargy, pale mucous membranes, and a weak femoral pulse. Complete blood count revealed non-regenerative anemia and severe leukopenia with thrombocytopenia. ALL was tentatively diagnosed based on the predominance of immature lymphoblasts on blood film examination. For confirmation of lymphoid malignancy, PCR for antigen receptor rearrangement (PARR) on a peripheral blood sample and flow cytometry analysis were performed after blood transfusion. Flow cytometry analysis revealed that lymphocyte subsets were of normal composition, but PARR detected a T-cell malignancy. The dog was diagnosed with ALL and survived 1 wk after diagnosis. In conclusion, after blood transfusion, flow cytometry was not a reliable diagnostic method for an ALL dog, whereas PARR could detect lymphoid malignancy. Our results suggest that PARR should be the first-line diagnostic tool to detect canine lymphoid malignancy after a blood transfusion.
Adolescent ; Anemia ; Animals ; Blood Cell Count ; Blood Transfusion* ; Diagnosis* ; Dogs* ; Female ; Flow Cytometry ; Hospitals, Teaching ; Humans ; Lethargy ; Leukopenia ; Lymphocyte Subsets ; Methods ; Mucous Membrane ; Polymerase Chain Reaction* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Receptors, Antigen* ; T-Lymphocytes ; Thrombocytopenia