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Article ; Online: Applications of next-generation sequencing in hematologic malignancies.

Ramkissoon, Lori A / Montgomery, Nathan D

2021 Volume 82, Issue 11, Page(s) 859–870

Abstract: In the last decade, next-generation sequencing (NGS) has rapidly progressed from a research method to a core component of standard-of-care clinical testing. In oncology, tumor sequencing provides a critical tool to detect somatic driver mutations that ... ...

Abstract	In the last decade, next-generation sequencing (NGS) has rapidly progressed from a research method to a core component of standard-of-care clinical testing. In oncology, tumor sequencing provides a critical tool to detect somatic driver mutations that not only characterize disease but also impact therapeutic decision-making. Here, we review the important role of NGS in the evaluation of hematopoietic neoplasms. We discusstechnical and practical considerations relevant in somatic mutation testing, emphasizing issues unique to blood cancers. Then, we describe how NGS data is being used to facilitate diagnosis, inform prognosis, guide therapy selection, and even monitor disease. This broad overview highlights the transformative impacts NGS data provides throughout the clinical course of patients with hematologic malignancies.
MeSH term(s)	Biomarkers, Tumor/genetics ; DNA Mutational Analysis/methods ; Hematologic Neoplasms/diagnosis ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/mortality ; Hematologic Neoplasms/therapy ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Precision Medicine/methods ; Prognosis ; Risk Assessment/methods
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2021-02-27
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	801524-7
ISSN	1879-1166 ; 0198-8859
ISSN (online)	1879-1166
ISSN	0198-8859
DOI	10.1016/j.humimm.2021.02.006
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Zs.A 1597: Show issues

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Article ; Online: Waldenström macroglobulinemia with secondary pure red cell aplasia in a patient with metastatic castrate resistant prostate cancer receiving an immune checkpoint inhibitor: a case report.

Kumar, Vaibhav / Montgomery, Nathan D / van Deventer, Hendrik W / Whang, Young E

Journal of medical case reports

2023 Volume 17, Issue 1, Page(s) 220

Abstract: Background: Hypoproliferative anemia is a frequently encountered adverse event in cancer patients receiving immune checkpoint inhibitors (ICI). Secondary pure red cell aplasia (PRCA) is a rare but recognized immune related adverse event. With the ... ...

Abstract	Background: Hypoproliferative anemia is a frequently encountered adverse event in cancer patients receiving immune checkpoint inhibitors (ICI). Secondary pure red cell aplasia (PRCA) is a rare but recognized immune related adverse event. With the burgeoning use of ICIs, the association of secondary PRCA with an underlying lymphoproliferative disorder is often overlooked. Case presentation: We report a case of a 67-year-old non-Hispanic Caucasian male with metastatic castrate resistant prostate cancer, who developed severe transfusion dependent anemia with reticulocytopenia while receiving treatment with olaparib and pembrolizumab. His bone marrow findings demonstrated erythroid hypoplasia, in addition to a CD5-negative, CD10-negative monotypic B-cell population and a somatic MYD88L265P mutation. With a presence of an IgM-paraprotein, he was diagnosed with Waldenström macroglobulinemia (WM) with secondary PRCA and treated with 6 cycles of bendamustine and rituximab. He achieved a complete response with this regimen and was transfusion independent. Conclusion: In this case, underlying WM was uncovered through systematic investigation of anemia caused by ICI therapy. This report highlights the possibility of a lymphoproliferative disorder in patients with concerns for PRCA with prior ICI exposure. If identified, treating the underlying lymphoproliferative disorder is highly efficacious in the management of the secondary PRCA.
MeSH term(s)	Humans ; Male ; Aged ; Immune Checkpoint Inhibitors ; Waldenstrom Macroglobulinemia/complications ; Waldenstrom Macroglobulinemia/drug therapy ; Red-Cell Aplasia, Pure/chemically induced ; Red-Cell Aplasia, Pure/drug therapy ; Red-Cell Aplasia, Pure/complications ; Anemia/chemically induced ; Prostatic Neoplasms/complications ; Lymphoproliferative Disorders
Chemical Substances	Immune Checkpoint Inhibitors
Language	English
Publishing date	2023-05-28
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2269805-X
ISSN	1752-1947 ; 1752-1947
ISSN (online)	1752-1947
ISSN	1752-1947
DOI	10.1186/s13256-023-03948-4
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Article ; Online: A little heparin goes a long way: effect of therapeutic levels of unfractionated heparin on the heparin-induced thrombocytopenia-platelet factor 4 ELISA antibody assay.

Raval, Jay S / Montgomery, Nathan D / Rollins-Raval, Marian A

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

2021 Volume 32, Issue 4, Page(s) 302–303

MeSH term(s)	Antibodies/immunology ; Anticoagulants/administration & dosage ; Anticoagulants/adverse effects ; Anticoagulants/blood ; Drug Monitoring ; Enzyme-Linked Immunosorbent Assay/methods ; Heparin/administration & dosage ; Heparin/adverse effects ; Heparin/blood ; Humans ; Immunoglobulin G/immunology ; Platelet Factor 4/immunology ; Thrombocytopenia/chemically induced ; Thrombocytopenia/diagnosis ; Thrombocytopenia/immunology
Chemical Substances	Antibodies ; Anticoagulants ; Immunoglobulin G ; Platelet Factor 4 (37270-94-3) ; Heparin (9005-49-6)
Language	English
Publishing date	2021-05-06
Publishing country	England
Document type	Letter
ZDB-ID	1033551-1
ISSN	1473-5733 ; 0957-5235
ISSN (online)	1473-5733
ISSN	0957-5235
DOI	10.1097/MBC.0000000000001034
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Zs.A 2920: Show issues

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Article ; Online: Clinical and molecular features of FLT3 juxtamembrane domain missense mutations in acute myeloid leukaemia.

Jensen, Christopher E / Montgomery, Nathan D / Galeotti, Jonathan / Foster, Matthew C / Zeidner, Joshua F

Journal of cellular and molecular medicine

2022

Language	English
Publishing date	2022-11-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2074559-X
ISSN	1582-4934 ; 1582-4934 ; 1582-1838
ISSN (online)	1582-4934
ISSN	1582-4934 ; 1582-1838
DOI	10.1111/jcmm.17608
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Zs.A 5752: Show issues

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Article ; Online: Advancing Global Health Surveillance of Mycotoxin Exposures using Minimally Invasive Sampling Techniques: A State-of-the-Science Review.

Jacobson, Tyler A / Bae, Yeunook / Kler, Jasdeep S / Iyer, Ramsunder / Zhang, Runze / Montgomery, Nathan D / Nunes, Denise / Pleil, Joachim D / Funk, William E

Environmental science & technology

2024 Volume 58, Issue 8, Page(s) 3580–3594

Abstract: Mycotoxins are a heterogeneous group of toxins produced by fungi that can grow in staple crops (e.g., maize, cereals), resulting in health risks due to widespread exposure from human consumption and inhalation. Dried blood spot (DBS), dried serum spot ( ... ...

Abstract	Mycotoxins are a heterogeneous group of toxins produced by fungi that can grow in staple crops (e.g., maize, cereals), resulting in health risks due to widespread exposure from human consumption and inhalation. Dried blood spot (DBS), dried serum spot (DSS), and volumetric tip microsampling (VTS) assays were developed and validated for several important mycotoxins. This review summarizes studies that have developed these assays to monitor mycotoxin exposures in human biological samples and highlights future directions to facilitate minimally invasive sampling techniques as global public health tools. A systematic search of PubMed (MEDLINE), Embase (Elsevier), and CINAHL (EBSCO) was conducted. Key assay performance metrics were extracted to provide a critical review of the available methods. This search identified 11 published reports related to measuring mycotoxins (ochratoxins, aflatoxins, and fumonisins) using DBS/DSS and VTS assays. Multimycotoxin assays adapted for DBS/DSS and VTS have undergone sufficient laboratory validation for applications in large-scale population health and human biomonitoring studies. Future work should expand the number of mycotoxins that can be measured in multimycotoxin assays, continue to improve multimycotoxin assay sensitivities of several biomarkers with low detection rates, and validate multimycotoxin assays across diverse populations with varying exposure levels. Validated low-cost and ultrasensitive minimally invasive sampling methods should be deployed in human biomonitoring and public health surveillance studies to guide policy interventions to reduce inequities in global mycotoxin exposures.
MeSH term(s)	Humans ; Mycotoxins/analysis ; Global Health ; Trichothecenes/analysis ; Aflatoxins ; Ochratoxins/analysis ; Food Contamination
Chemical Substances	Mycotoxins ; Trichothecenes ; Aflatoxins ; Ochratoxins
Language	English
Publishing date	2024-02-14
Publishing country	United States
Document type	Journal Article ; Review
ISSN	1520-5851
ISSN (online)	1520-5851
DOI	10.1021/acs.est.3c04981
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Article ; Online: Comprehensive genomic profiling reveals molecular subsets of

Johnson, Steven M / Haberberger, James / Galeotti, Jonathan / Ramkissoon, Lori / Coombs, Catherine C / Richardson, Daniel R / Foster, Matthew C / Duncan, Daniel / Montgomery, Nathan D / Ferguson, Naomi L / Zeidner, Joshua F

Leukemia & lymphoma

2024 Volume 65, Issue 2, Page(s) 209–218

Abstract: A large-scale genomic analysis of patients ... ...

Abstract	A large-scale genomic analysis of patients with
MeSH term(s)	Adult ; Humans ; Myeloproliferative Disorders/genetics ; Spliceosomes/genetics ; Spliceosomes/pathology ; Transcription Factors/genetics ; Neoplasms ; Genomics ; Mutation ; Leukemia, Myeloid, Acute/genetics ; Prognosis ; Repressor Proteins/genetics
Chemical Substances	Transcription Factors ; ASXL1 protein, human ; Repressor Proteins
Language	English
Publishing date	2024-01-24
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	1042374-6
ISSN	1029-2403 ; 1042-8194
ISSN (online)	1029-2403
ISSN	1042-8194
DOI	10.1080/10428194.2023.2277672
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Zs.A 2997: Show issues

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Article ; Online: Transformation in Low-grade B-cell Neoplasms.

Montgomery, Nathan D / Mathews, Stephanie P

Surgical pathology clinics

2016 Volume 9, Issue 1, Page(s) 79–92

Abstract: Low-grade B-cell leukemias/lymphomas are a diverse group of indolent lymphoproliferative disorders that are typically characterized by good patient outcomes and long life expectancies. A subset of cases, however, undergo histologic transformation to a ... ...

Abstract	Low-grade B-cell leukemias/lymphomas are a diverse group of indolent lymphoproliferative disorders that are typically characterized by good patient outcomes and long life expectancies. A subset of cases, however, undergo histologic transformation to a higher-grade neoplasm, a transition associated with a more aggressive clinical course and poor survival. Transformation of follicular lymphoma to diffuse large B-cell lymphoma and Richter transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma are best characterized in the literature. This article reviews clinical and pathologic characteristics of these most common forms of transformation, with an emphasis on salient histologic, immunophenotypic, and genetic features.
MeSH term(s)	Cell Transformation, Neoplastic/pathology ; Diagnosis, Differential ; Disease Progression ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/pathology ; Lymphoma, Follicular/diagnosis ; Lymphoma, Follicular/pathology ; Lymphoma, Large B-Cell, Diffuse/pathology ; Neoplasm Grading
Language	English
Publishing date	2016-03
Publishing country	United States
Document type	Journal Article ; Review
ISSN	1875-9157
ISSN (online)	1875-9157
DOI	10.1016/j.path.2015.09.004
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Article ; Online: Pathology consultation on intermediate-to-large B-cell lymphomas.

Montgomery, Nathan D / Fedoriw, Yuri

American journal of clinical pathology

2014 Volume 141, Issue 3, Page(s) 305–317

Abstract: Objectives: Intermediate-to-large B-cell lymphomas represent a heterogeneous group of aggressive lesions frequently encountered in practice. The differential diagnosis includes the most common of all lymphomas, diffuse large B-cell lymphoma (DLBCL), as ... ...

Abstract	Objectives: Intermediate-to-large B-cell lymphomas represent a heterogeneous group of aggressive lesions frequently encountered in practice. The differential diagnosis includes the most common of all lymphomas, diffuse large B-cell lymphoma (DLBCL), as well as Burkitt lymphoma (BL), B-lymphoblastic lymphoma, and the blastoid variant of mantle cell lymphoma. In recent decades, gene expression profiling studies have clarified the biologic origins and features of these diseases. Moreover, clinically relevant subtypes of DLBCL have been identified, and a new category was defined: B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL. Herein, we review the salient diagnostic features of the various entities within this differential diagnosis and provide a stepwise diagnostic approach for dealing with challenging cases. Methods: A case-based approach is used to highlight diagnostic dilemmas and clinical decision points within the differential diagnosis of intermediate-to-large B-cell lymphomas. Results: Based on the published literature and World Health Organization criteria, we suggest a diagnostic algorithm for appropriate classification of these lymphomas. Conclusions: Correct classification of intermediate-to-large B-cell lymphomas is important, because prognosis and therapeutic approach vary for different tumors and tumor subclasses. Understanding both disease-specific criteria and pathologic features that influence clinical behavior within a category is imperative for evaluation of these lymphomas.
MeSH term(s)	Adolescent ; Aged ; Aged, 80 and over ; Diagnosis, Differential ; Gene Expression Profiling ; Genes, myc ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell/diagnosis ; Lymphoma, B-Cell/pathology ; Male ; Prognosis
Language	English
Publishing date	2014-03
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2944-0
ISSN	1943-7722 ; 0002-9173
ISSN (online)	1943-7722
ISSN	0002-9173
DOI	10.1309/AJCP3CP6VFZJYMTK
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Article ; Online: Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation.

Blatt, Julie / Parekh, Preeti / Powell, Bradford C / Fedoriw, Yuri / Reddy, Indira / Montgomery, Nathan D

Journal of pediatric hematology/oncology

2020 Volume 43, Issue 5, Page(s) e689–e691

Abstract: Rosai-Dorfman disease (RDD) typically presents as bulky lymphadenopathy. Somatic mutations in RAS/MAP kinase pathway genes are common but germline mutations are rare. A patient with RDD and exocrine pancreatic insufficiency was found to have a homozygous ...

Abstract	Rosai-Dorfman disease (RDD) typically presents as bulky lymphadenopathy. Somatic mutations in RAS/MAP kinase pathway genes are common but germline mutations are rare. A patient with RDD and exocrine pancreatic insufficiency was found to have a homozygous germline mutation in SLC29A3, which has been associated with the Histiocytosis/Lymphadenopathy Plus Syndrome. His RDD also was positive for a somatic mutation in lymphoid enhancer binding factor 1 (LEF1). The concurrence of RDD and pancreatic insufficiency should raise consideration of SLC29A3 mutations. Other cases will be needed to confirm this observation and a possible contribution of LEF1 to the development of RDD.
MeSH term(s)	Adult ; Exocrine Pancreatic Insufficiency/complications ; Exocrine Pancreatic Insufficiency/genetics ; Germ-Line Mutation ; Histiocytosis, Sinus/complications ; Histiocytosis, Sinus/genetics ; Humans ; Male ; Nucleoside Transport Proteins/genetics ; Young Adult
Chemical Substances	Nucleoside Transport Proteins ; SLC29A3 protein, human
Language	English
Publishing date	2020-07-10
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1231152-2
ISSN	1536-3678 ; 1077-4114 ; 0192-8562
ISSN (online)	1536-3678
ISSN	1077-4114 ; 0192-8562
DOI	10.1097/MPH.0000000000001889
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Article ; Online: A reappraisal of ASXL1 mutation sites and the cohesin-binding motif in myeloid disease.

Johnson, Steven M / Haberberger, James / Galeotti, Jonathan / Ramkissoon, Lori / Coombs, Catherine C / Richardson, Daniel R / Foster, Matthew C / Duncan, Daniel / Zeidner, Joshua F / Ferguson, Naomi L / Montgomery, Nathan D

Blood cancer journal

2023 Volume 13, Issue 1, Page(s) 96

MeSH term(s)	Humans ; Chromosomal Proteins, Non-Histone/genetics ; Cell Cycle Proteins/genetics ; Mutation ; Leukemia, Myeloid, Acute/genetics ; Repressor Proteins/genetics ; Cohesins
Chemical Substances	Chromosomal Proteins, Non-Histone ; Cell Cycle Proteins ; ASXL1 protein, human ; Repressor Proteins
Language	English
Publishing date	2023-06-26
Publishing country	United States
Document type	Letter
ZDB-ID	2600560-8
ISSN	2044-5385 ; 2044-5385
ISSN (online)	2044-5385
ISSN	2044-5385
DOI	10.1038/s41408-023-00876-w
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