CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Washington University School of Medicine in St. Louis. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.
Read More »AMP case report: Lung micropapillary adenocarcinomas revisited
September 2023—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Henry Ford Hospital. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.
Read More »Upon viral infection, assessing the host nasal epigenome
August 2023—Analyzing the nasal epigenome can shed light on viral infections, strain differences, and potentially infection severity, and for influenza B in particular the results are striking.
Read More »The human gut microbiome and blood biochemistry connection
July 2023—The human microbiome has been called the forgotten organ, and at one time it was. But not in the past 10 years. James Versalovic, MD, PhD, made that clear in his talk at the Association for Molecular Pathology meeting last year.
Read More »Close-up on AI-driven assistive tools in pathology
March 2023—Assessing cardiac allograft rejection from endomyocardial biopsy and assigning a differential diagnosis to cancers of unknown origin have been shown to get a boost from AI-driven computational pathology models. So too has identifying subregions of high diagnostic value on whole slide images.
Read More »AMP case report: ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma
April 2022—Genetic alterations of the gene FLT3, especially internal tandem duplications in the juxtamembrane domain and point mutations in the tyrosine kinase domain, are commonly seen in patients with newly diagnosed myeloid leukemias. However, chromosome rearrangements involving the FLT3 gene are extremely rare in hematologic malignancies. The FLT3 gene has only a few known partner genes, including the gene ETV6, which encodes a transcriptional repressor. ETV6 has a wide variety of translocation partner genes, several of which are tyrosine kinase genes.
AMP case report: A case of a rare myeloid neoplasm presenting with features mimicking primary myelofibrosis
February 2022—Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders characterized by increased proliferation of myeloid cells of one or more lineage. The most common MPNs include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). CML is defined by the BCR-ABL1 fusion, which typically results from the t(9;22)(q34;q11.2) rearrangement.
Read More »AMP case report: Rhinoscleroma in Southern California—diagnosis made by multidisciplinary investigation
January 2022—A 33-year-old male with progressive hoarseness and shortness of breath was given a purported diagnosis of laryngeal papillomatosis and referred to our institution in November 2020 for a higher level of care. On presentation, the patient reported no recent upper respiratory infection-like systemic symptoms but had cough, nasal congestion, throat discomfort, dysphonia, and worsening dyspnea.
Read More »Up close on clonal hematopoiesis in cfDNA testing
October 2021—Clonal hematopoiesis is a significant biological phenomenon and denotes presence of mutations in bone marrow stem cells in the absence of a hematologic malignancy.
Read More »Detecting myeloid malignancy minimal residual disease
October 2021—Detecting leukemic cells for post-treatment monitoring in normal karyotype acute myeloid leukemia is challenging, but new approaches to minimal residual disease monitoring may make it increasingly possible in the clinical laboratory, David Wu, MD, PhD, said in an AMP webinar he presented recently on myeloid malignancy minimal residual disease detection.
Read More »Metagenomic NGS: More pros than cons?
September 2021—A stem cell transplant patient at Lurie Children’s Hospital in Chicago had a disseminated fungal infection by every clinical criterion, but no conventional method had detected it.
Read More »Resistance targets: blood culture ID panel pitfalls
May 2021—Most of the time, bloodstream infection antimicrobial resistance results achieved with blood culture molecular ID panels will be accurate. When and why they might not be was the focus of an AMP 2020 virtual session. “I don’t want to lead anyone to believe that these are not good, accurate, and important types of tests,” Richard E. Davis, PhD, D(ABMM), MLS(ASCP)CM, said of the panels.
Read More »‘Know your panel’: Blood culture ID cautions
April 2021—The interpretive challenges of blood culture identification panels were the focus of an AMP2020 virtual presentation on false-positives and false-negatives and their sources and solutions.
Read More »In transplantation, detecting CMV antiviral resistance
February 2021—Eighteen months after introducing a next-generation sequencing assay to detect CMV antiviral resistance in the transplant population, Matthew Binnicker, PhD, D(ABMM), in an AMP presentation, shared a patient’s case and his laboratory’s broader experience.
Read More »In SARS-CoV-2, small steps but big wins
December 2020—By its very nature, the global pandemic has forced laboratories to look far and wide, to bring binoculars, in essence, to their views of supply chains, testing platforms, personnel, and the like. As COVID-19 churns on, some labs are looking through a tinier lens as well. These labs aren’t trading their binoculars for a jeweler’s loupe, exactly, but they have found small and significant success stories closer to home. Like so many others, Erin Graf, PhD, D(ABMM), has confronted a spinning roulette wheel since the pandemic’s start. In a talk she gave in an AMP webinar in October, Dr. Graf posted a vibrantly colored wheel titled, “Which supply chain issue will impact us this week?” Each segment contained a phrase familiar to everyone in 2020, ranging from “swabs” and “sheep blood agar” to “pipette tips” and “chlamydia and gonorrhea tests.” As she surveys these continuous claims on her attention, Dr. Graf says, “I think none of us could have ever thought that COVID would have an impact on all these arms of the testing that we do.”
Read More »Molecular methods shown to push cases forward: Case studies in hematopathology
October 2020—B-ALL with aberrant expression of myeloid markers should be investigated further for specific gene abnormalities, including ZNF384 rearrangements, and microarray analysis may play an important role.
Read More »MGMT promoter methylation: assays, implications
October 2020—With MGMT gene promoter methylation observed in about 50 percent of glioblastomas, it remains a biomarker of strong clinical interest in routine practice, even though it’s not the sole determinant in decisions related to therapy. PCR and pyrosequencing are the most commonly used assays, and there’s a technique that is not yet mainstream but gaining interest, said Tejus A. Bale, MD, PhD, assistant attending pathologist in the Department of Neuropathology and Diagnostic Molecular Pathology, Memorial Sloan Kettering Cancer Center. Dr. Bale spoke June 30 in the first of a series of Association for Molecular Pathology webinars on emerging and evolving biomarkers.
Read More »Targeting immune signaling checkpoints in AML
September 2020—Acute myeloid leukemia was one of the first diseases for which T cells were incorporated into the therapeutic paradigm, in the form of allogeneic stem cell transplant and donor lymphocyte infusion. Why then are there no approved immune therapies, or more specifically checkpoint inhibitors, for this T-cell–sensitive disease?
Read More »For molecular ID testing, micro lab or molecular lab?
March 2020—Where should molecular infectious disease testing be performed? That was the question at the center of a point-counterpoint session at last year’s AMP annual meeting.
Read More »Study: Combined DNA-RNA testing improves detection of MET mutations
March 2020—DNA and RNA sequencing, when used together, can improve detection of MET exon 14 skipping mutations in lung adenocarcinoma compared with DNA testing alone, according to a study reported last November at the Association for Molecular Pathology meeting. While RNA analysis can play an important complementary role to DNA analysis in detecting the mutation, it can also pick up false-positives if RNA analysis data are not adjusted properly, David Manthei, MD, PhD, a fellow in the University of Michigan Department of Pathology, explained in presenting the data. In the study, 482 cases of non-small cell lung cancer were sequenced using the Oncomine Focus Assay, a Thermo Fisher Scientific next-generation sequencing assay that conducts DNA and RNA analysis in a single workflow.
Read More »Study gauges impact of genotyping on gonorrhea treatment
April 2019—Genotypic testing for ciprofloxacin susceptibility in Neisseria gonorrhoeae has been proved to be effective in guiding physician treatment in a single-center study at UCLA Health.
Read More »Gene testing moves cardiomyopathy analysis forward
March 2018—From phenotype to genotype in the understanding and diagnosis of cardiovascular disease—that was the medical journey on which Joseph Maleszewski, MD, and Birgit Funke, PhD, took attendees at a symposium at the November 2017 meeting of the Association for Molecular Pathology.
Read More »Molecular assays in HIV-1 Dx and therapeutic monitoring
May 2014—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is the fourth such case. (See the February, August, and September 2013 issues for the first three.) AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, treatment, and more. Case report No. 4 comes from the Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania.
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