About

Regina Kwon is a faculty member in the Department of Laboratory Medicine & Pathology at UW Medicine, University of Washington. The department serves as a regional resource for clinical laboratory services, integrating sophisticated testing and informatics capabilities with the resources of an academic institution to provide clinical and anatomical pathology services. The department is recognized for excellence in clinical training, world-class research initiatives, and a commitment to community service, serving the five-state WWAMI region, which includes Washington, Wyoming, Alaska, Montana, and Idaho. Specific details about Dr. Kwon's research focus, background, or key contributions are not provided in the page text.

Research topics

• Pathology
• Medicine
• Computer Science
• Molecular biology
• Genetics
• Multimedia
• World Wide Web
• Biology
• Medical education

Selected publications

• Navigating molecular neuropathology of CNS neoplasms for the practicing surgical pathologist

  American Journal of Clinical Pathology · 2025-05-23

  article

  OBJECTIVE: The practice of surgical neuropathology incorporates molecular results into diagnoses that already integrate histologic, radiologic, and clinical findings. Many surgical pathologists evaluate central nervous system (CNS) tumors without neuropathology board certification. METHODS: This review describes key preanalytical, analytical, and postanalytical considerations for molecular testing and provides context for these considerations using frequently encountered CNS tumors. An overview of common molecular modalities, including limitations, is given, and pitfalls in interpretation are addressed. CONCLUSIONS: In summary, this review offers a practical reference for the diagnosis of CNS specimens in a general surgical pathology practice.

  PublisherDOI

• Mismatch repair deficiency testing for immune checkpoint inhibitor therapy in genitourinary malignancies

  Urologic Oncology Seminars and Original Investigations · 2025-03-04

  review
  PublisherDOI

• P-2226. Clinical Validation and Performance of Molecular Syphilis Diagnosis by Loop-Mediated Isothermal Amplification

  Open Forum Infectious Diseases · 2025-01-29

  articleOpen access

  Abstract Background Syphilis cases continue to increase rapidly in the US. Molecular detection of the pathogen, Treponema pallidum (TP) may speed turnaround time (TAT) and resolve ambiguous results from current diagnostics methods, which require stepwise serologic testing. Here we describe validation and clinical performance of a loop-mediated isothermal amplification (LAMP) assay for TP. Methods Candidate LAMP primers targeting the 23S rRNA locus of TP were evaluated and the best performing set was used for clinical validation per Clinical Laboratory Standards Institute guidelines. We determined the sensitivity, specificity, precision, accuracy, and reproducibility of the TP-LAMP assay in fresh and formalin-fixed tissue, body fluids, and whole blood using contrived specimens spiked with intact treponemes and residual clinical specimens. For whole blood, automated nucleic acid extraction was performed from 1mL ETDA-anticoagulated sample. Results The 95% limit of detection was determined to be 7-10 genomes/reaction by testing remnant DNA eluates spiked with TP gDNA. Assay specificity was evaluated by testing synthetic DNA targets representing non-cultivable targets and residual clinical samples containing DNA from 114 clinically relevant microbes, including non-TP spirochetes, bacteria, fungi, and viruses. TP-LAMP detected 100% of whole blood samples spiked with 120-125 organisms/mL; 88% of samples with 85 organisms/mL; and 80% of samples spiked with 60 organisms/mL. From 09/2022 - 07/2023 TP-LAMP had 110 results in non-blood samples and the mean TAT was 4.7 days. Orthogonal diagnostic results were available for a subset of 34 samples. In this group the assay was 100% sensitive and specific with 7 positive tests, comprising 2 cases of primary and 5 cases of secondary syphilis. Three tissue specimens with negative TP-LAMP results had false-positive immunohistochemical TP stains due to cross-reactivity with commensal treponemes. Conclusion This assay represents a novel, clinically available method for sensitive and specific syphilis diagnosis. Additionally, the assay can resolve ambiguous findings in tissue. Applications in blood may aid in diagnosis of early or latent disease and resolution of unclear serologic test results. Disclosures Stephen J. Salipante, M.D. Ph.D., Anavasi: Grant/Research Support Joshua Lieberman, MD, PhD, Anavasi: Grant/Research Support

  PublisherDOI

• Simplifying molecular testing through electronic order entry

  American Journal of Clinical Pathology · 2023-11-01

  articleOpen access1st authorCorresponding

  Abstract Our solid-tumor molecular laboratory receives more than 3,000 orders each year, with about two-thirds coming from internal providers. Before this project, molecular tests were ordered using one of two different paper forms, which the care team then faxed or e-mailed to the Genetics Preanalytical Service (GPS). These requests led to frequent modifications and cancellations due to the complexity of molecular testing. A small fraction of requisitions were lost due to transmission errors. We undertook a project to design, develop, and implement computerized physician order entry (CPOE) in Epic (Epic Systems Corp., Verona, WI) and Sunquest (Clinisys, Tucson, AZ). We conducted extensive interviews with the directors of the molecular lab, laboratory medicine IT, GPS, anatomic pathology staff, laboratory scientists, laboratory genetic counselors, oncologists, clinicians, and nurse coordinators. The order itself and other technical changes underwent iterative review and testing by a subset of interviewees. Five oncologists participated in formal beta-testing. The user interviews allowed us to produce a detailed process diagram that drew attention to specific areas of repetition or risk. We proposed a new workflow that would eliminate repetition, provide redundant order-tracking, and automate some lab processes. Once approved, we built the electronic order in Epic and modified existing laboratory programs and interfaces as needed. The process of placing an order, which previously typically involved both nurses and doctors over several calendar days, was now being completed in fewer than 5 minutes by a single practitioner. Requisition status events were no longer created manually in Sunquest by GPS. Certain data-entry tasks were eliminated through the incorporation of label printers. Within one month of launch, more than 50% of somatic molecular orders arrived via CPOE, increasing to 90% within six months. At a rate of 125 CPOE orders per month, time savings range from 20 hours per month for GPS staff, 50 hours per month for nursing, and 20 hours per month for physicians. The success of this project demonstrates the feasibility of replacing a paper-based process for a complex test menu with CPOE. Due to the intricacies of molecular testing, such a change will undoubtedly involve multiple divisions. We attribute the success of this project to early involvement by key stakeholder groups, including developers; an extended testing phase to ensure reliability at roll-out; creation of straightforward reference documents; and rapid response to user questions, especially during the first weeks post-launch.

  PublisherOA PDFDOI

• Tumor Mutational Burden Testing in Solid Tumors

  JAMA Oncology · 2023-10-26 · 2 citations

  article1st authorCorresponding

  A 58-year-old man with diabetes, chronic kidney disease, and JAK2 -positive myeloproliferative neoplasm is referred for newly diagnosed oligometastatic prostate cancer with substantial urinary symptoms. What would you do next?

  PublisherDOI

• Advances in next-generation sequencing and emerging technologies for hematologic malignancies

  Haematologica · 2023-08-16 · 16 citations

  reviewOpen access1st authorCorresponding

  Innovations in molecular diagnostics have often evolved through the study of hematologic malignancies. Examples include the pioneering characterization of the Philadelphia chromosome by cytogenetics in the 1970s, the implementation of polymerase chain reaction for high-sensitivity detection and monitoring of mutations and, most recently, targeted next- generation sequencing to drive the prognostic and therapeutic assessment of leukemia. Hematologists and hematopath- ologists have continued to advance in the past decade with new innovations improving the type, amount, and quality of data generated for each molecule of nucleic acid. In this review article, we touch on these new developments and discuss their implications for diagnostics in hematopoietic malignancies. We review advances in sequencing platforms and library preparation chemistry that can lead to faster turnaround times, novel sequencing techniques, the development of mobile laboratories with implications for worldwide benefits, the current status of sample types, improvements to quality and reference materials, bioinformatic pipelines, and the integration of machine learning and artificial intelligence into mol- ecular diagnostic tools for hematologic malignancies.

  PublisherDOI

• Development of a Syphilis-Specific Molecular Assay

  American Journal of Clinical Pathology · 2022-11-01

  articleOpen access1st authorCorresponding

  Abstract Syphilis is a sexually transmitted disease caused by the spirochete Treponema pallidum subspecies pallidum. Rates of infection have been rising for 20 years, with nearly 39,000 cases of primary and secondary syphilis reported in the United States in 2019. Early diagnosis is critical for preventing disease progression and transmission but remains challenging. Dark-field microscopy is laborious and unavailable in most clinical laboratories. Serology, the mainstay of diagnosis and monitoring, may be nonreactive in up to 47% of patients with early primary syphilis. Immunofluorescence and immunohistochemistry can be difficult to interpret due to cross-reactivity and nonspecific staining. Given these limitations, nucleic acid amplification testing (NAAT) via polymerase chain reaction (PCR) is an attractive diagnostic tool. It offers the possibility of high sensitivity and specificity; detection across a wide variety of specimens; and applicability to early primary lesions, extragenital sites, and late-stage syphilis. However, no FDA-approved T. pallidum NAATs exist, and few commercial laboratory-developed tests are available. Due to this lack, clinicians have turned to broad-range bacterial PCR targeting the 16S rRNA gene offered by our molecular microbiology reference laboratory, particularly for detection in formalin-fixed paraffin-embedded tissue. To understand usage patterns, we searched the laboratory information system, revealing 45 specimens (representing 40 unique patients) in which T. pallidum was detected by this assay. We identified an additional 4 specimens from 2 patients in whom syphilis was suspected. The results of gold-standard testing were available for 19 cases, yielding a positive percent agreement of ~73% and negative percent agreement of 100%. These findings both highlight the utility of a molecular assay and suggest an organism-specific assay could increase sensitivity. To build on the promise of PCR-based T. pallidum diagnostics, we developed an assay targeting tprCDFI, a 400bp region conserved across four paralogous genes and unique to T. pallidum. We hypothesized that the multiple copies of tprCDFI will increase the assay’s analytical sensitivity as compared with the single-copy tp47 and two-copy 16S rRNA loci. Ten candidate primer pairs were evaluated bioinformatically for species-specificity and five were chosen for empiric testing. Two primer sets successfully detected both synthetic DNA target and gDNA extracted from two clinical isolates and two laboratory strains (Nichols, SS14) of T. pallidum. The analytes were spiked into 50ng of human gDNA to simulate patient matrix. Preliminary experiments showed a limit of detection of 40 or fewer genomes per reaction. Studies are under way to determine analytical sensitivity, specificity, and limit of detection and to compare the performance of the tprCDFI primers with those for 16S rRNA and tp47 genes before proceeding to clinical validation in a variety of pluri- and paucicellular specimens.

  PublisherOA PDFDOI

• Comparison of Cervical Cancer Screen Results on Female-to-Male Transgender Patients With Female Patients

  American Journal of Clinical Pathology · 2021-09-08 · 14 citations

  article

  OBJECTIVES: There are limited data on cervical screen results from female-to-male (FTM) transgender patients. Herein, we compiled demographic information and cervical screen testing on FTM transgender patients and compared with age-appropriate controls. METHODS: A search of our previous and current databases was performed for Papanicolaou (Pap) tests from patients taking testosterone and/or with a diagnosis of gender dysphoria, transsexualism, or transvestism. Patient data were reviewed. Relative risks of abnormal Pap smear and human papillomavirus (HPV) infection were calculated against age-matched controls. RESULTS: Eighty-nine Pap tests from FTM transgender individuals were identified, with a mean age of 31.3 years (range, 21-60 years). The Pap test diagnoses were distributed as follows: negative for intraepithelial lesion (n = 84, 94.4%), atypical squamous cells of undetermined significance (n = 0), low-grade intraepithelial lesion (n = 4, 4.5%), and high-grade squamous intraepithelial lesion (n = 1, 1.1%). Fifty (56.2%) patients had concurrent high-risk HPV testing with four (8%) positive results. Relative risk was 0.625 (95% confidence interval [CI], 0.25-1.59; P = .32) for an abnormal Pap test and 0.55 (95% CI, 0.19-1.52; P = .24) for HPV compared with 267 age-matched controls. Of note, 13.5% of patients older than 21 years had documentation of never having a prior Pap test in our medical record. CONCLUSIONS: In our study, FTM transgender individuals were not at a higher or lower risk of HPV infection or abnormal Pap test result compared with women. However, larger studies are needed to support our findings.

  PublisherDOI

• Microvillus inclusion disease with novel <i>MYO5B</i> pathogenic variants

  Histopathology · 2021-02-06 · 1 citations

  letter1st authorCorresponding
  PublisherDOI

• A Novel NIPBL-NACC1 Gene Fusion Is Characteristic of the Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma

  The American Journal of Surgical Pathology · 2021 · 38 citations

  • Pathology
  • Biology
  • Molecular biology

  We report a novel NIPBL-NACC1 gene fusion in a rare primary hepatic neoplasm previously described as the "cholangioblastic variant of intrahepatic cholangiocarcinoma." The 2 index cases were identified within our consultation files as morphologically distinctive primary hepatic neoplasms in a 24-year-old female and a 54-year-old male. The neoplasms each demonstrated varied architecture, including trabecular, organoid, microcystic/follicular, and infiltrative glandular patterns, and biphasic cytology with large, polygonal eosinophilic cells and smaller basophilic cells. The neoplasms had a distinctive immunoprofile characterized by diffuse labeling for inhibin, and patchy labeling for neuroendocrine markers (chromogranin and synaptophysin) and biliary marker cytokeratin 19. RNA sequencing of both cases demonstrated an identical fusion of NIBPL exon 8 to NACC1 exon 2, which was further confirmed by break-apart fluorescence in situ hybridization assay for each gene. Review of a tissue microarray including 123 cases originally diagnosed as well-differentiated neuroendocrine neoplasm at one of our hospitals resulted in identification of a third case with similar morphology and immunophenotype in a 52-year-old male, and break-apart fluorescence in situ hybridization probes confirmed rearrangement of both NIPBL and NACC1. Review of The Cancer Genome Atlas (TCGA) sequencing data and digital images from 36 intrahepatic cholangiocarcinomas (www.cbioportal.org) revealed one additional case with the same gene fusion and the same characteristic solid, trabecular, and follicular/microcystic architectures and biphasic cytology as seen in our genetically confirmed cases. The NIPBL-NACC1 fusion represents the third type of gene fusion identified in intrahepatic cholangiocarcinoma, and correlates with a distinctive morphology described herein.

  PublisherOA PDFDOI

Frequent coauthors

• Andrés Matoso

  Sidney Kimmel Comprehensive Cancer Center

  6 shared

• Daniel D. Matlock

  University of Colorado Denver

  6 shared

• Pedram Argani

  Johns Hopkins University

  6 shared

• Juliana DeLuca

  Johns Hopkins University

  5 shared

• Christopher J. VandenBussche

  5 shared

• Carla Saoud

  Johns Hopkins University

  4 shared

• Zahra Maleki

  Johns Hopkins Hospital

  4 shared

• Lisa M. Rooper

  Johns Hopkins Hospital

  4 shared