Tag Archives: Leukemia

July 2023—A germline GATA2 c.121C>G (p.P41A) variant in a patient with an unusual acute promyelocytic leukemia 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 Emory University School of Medicine. 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.

March 2023—Updated classifications for hematologic neoplasms are here. Let the complications continue. As with other specialties, hematopathology has been absorbing advances gleaned from molecular and genetic data. In some cases, this can tilt diagnosis away from primarily immunophenotypic approaches. It might lead to splits in what was formerly a single entity. On occasion, it might suggest further testing options that could be of value to patients now, or possibly at a date down the road. Or it might just leave pathologists and their clinical colleagues peering at a lack of data, knowing they have to make decisions nonetheless. Two groups—the World Health Organization and the International Consensus Classification—have put forth classifications to help physicians sort through the complexities. The WHO published a beta version of the fifth edition of its Classification of Haematolymphoid Tumours in July 2022.

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.

June 2021—A case of monoclonal B-cell lymphocytosis and a tour of B- and T-cell morphologies were at the heart of a CAP20 virtual presentation on neoplastic lymphocytosis. Kyle Bradley, MD, associate professor of hematopathology and director of surgical pathology at Emory University, spoke last fall on reactive (CAP TODAY, May 2021) and neoplastic lymphocytosis, with Olga Pozdnyakova, MD, PhD, who addressed neutrophilia and monocytosis (CAP TODAY, February and March 2021). Together they took attendees through a morphology-based approach to hematopoietic neoplasms presenting with an abnormal WBC differential.

April 2021—A 71-year-old female with a history of asthma and hypertension initially presented to her local hospital complaining of shortness of breath. She was found to be pancytopenic with severe anemia (hemoglobin 5 g/dL). She was subsequently transferred to a tertiary care facility for further evaluation. Bone marrow biopsy revealed a hypercellular marrow composed of 72 percent blasts. Flow cytometric analysis revealed a B-lymphoblast immunophenotype with expression of CD34, dim CD45, CD19, CD79a, CD22, HLA-DR, TDT, CD200, CD33, and dim CD13.

March 2021—Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is one of the most common lymphoproliferative diseases. It is a CD5-positive B-cell neoplasm of monomorphic small mature B cells. One of the characteristics of CLL/SLL is its heterogeneity, not only among individuals but also within individual patients.¹ The cytogenetic and molecular variants are dynamic during disease progression and in response to targeted therapies.

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?

March 2020—Three decades ago, when Jerald Radich, MD, started doing BCR-ABL testing, the process was highly hands-on. In those days, “we used water baths to do PCR,” said Dr. Radich, an oncologist and director of the molecular oncology lab and member of the Clinical Research Division, Fred Hutchinson Cancer Research Center, in a recent CAP TODAY webinar.

February 2020—Microfluidic assays are being used to isolate circulating leukemia cells and manage minimal residual disease in some patients with acute myeloid leukemia and B-cell/T-cell acute lymphoblastic leukemia. “There is a lot of popularity in liquid biopsies, but there’s still a lot of work to do,” said Steven A. Soper, PhD, foundation distinguished professor of chemistry, mechanical engineering, and bioengineering at the University of Kansas. Dr. Soper, who also holds a teaching appointment at Ulsan National Institute of Science and Technology in Ulsan, South Korea, was a co-presenter with Sunitha Nagrath, PhD (see story, page 3), at the 2019 AMP annual meeting.

May 2019—Chronic lymphocytic leukemia is a neoplasm of small mature B-cells and the most common leukemia diagnosed in adults. Median age of diagnosis is 70 years, but there is a surprisingly large percentage of patients, about 10 percent, who are younger than 55, and it’s not uncommon now to occasionally see CLL patients, about two percent, in their 40s.

April 2019—Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) in which promyelocytes predominate. APL accounts for about 10 percent of AML cases, and although APL can be diagnosed at any age, it is most common among young adults with a slight male predominance. APL is defined by the balanced reciprocal translocation (15;17)(q22;q21) between PML and RARA, although variant translocations involving RARA and other partner genes can occur.

October 2018—Cheryl Willman, MD, could hardly believe her eyes. She and her colleagues at the University of New Mexico, working with collaborators from across the U.S. in the NCI TARGET Project, had submitted 100 cases of high-risk pediatric acute lymphoblastic leukemia to British Columbia’s Cancer Agency for RNA sequencing to figure out why patients were doing so poorly, despite treatment with intensive chemotherapy.

May 2017—Plenty can happen in five years. Just ask Cubs fans who watched their team leap from a 101-loss season in 2012 to a 103-win season in 2016 and a World Series title as the cherry on top. Or ask Daniel Arber, MD, who co-chaired a hefty new guideline—a half decade in the making—on diagnostic workup of acute leukemia. At the start of the project, “I think everyone going into it realized it was going to be a time-consuming, long process. But I don’t think anyone realized how long,” says Dr. Arber, professor and chair of pathology, University of Chicago, and the CAP co-chair for the guideline group.

The 2008 World Health Organization diagnostic criteria for chronic myelomonocytic leukemia (CMML) integrate peripheral blood and bone marrow findings, including morphologic and chromosomal abnormalities. Notably, there is no single pathognomonic finding specific to CMML, and it is important to exclude secondary causes of monocytosis.

July 2014—When it comes to molecular testing for acute myeloid leukemia, the approach seems more Montessori than military school. There are some basic steps physicians should take, to be sure. Cytogenetics still shepherds patients into three prognostic groups: favorable, intermediate, and unfavorable. And several gene mutations—NPM1, CEBPA, FLT3, and KIT—alone or in combination, and with various cytogenetic associations, provide additional prognostic and therapeutic guidance.