AMP Case Reports in CAP Today

Do you have a compelling molecular case that you wish to share with a broad audience of laboratory professionals? AMP's Publications Committee is seeking submissions from all AMP subdivisions for potential publication in CAP Today. This is a great opportunity to share your expertise and be of service to AMP!

Soma Chakraborty, MD, Karin E. Finberg, MD, PhD, Zenta Walther, MD, PhD, Jill Lacy, MD, Joanna Gibson, MD, PhD

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Ultra-hypermutated colorectal adenocarcinoma identified at relapse
Shayan Sheikholeslami, B.S., and Eric Y. Loo, M.D.
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NTRK1-Rearranged Spindle Cell Sarcoma in an Unusual Location: Molecular Confirmation Resolving a High-Grade Pediatric Sarcoma Differential
Haiyan Qiu, M.D., Ph.D.; Kotaro Takeda, M.D., Ph.D.
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2025

Identification of Rare PML::RARA Variant Missed by Traditional Molecular Testing
Parastou Tizro, M.D.; Eric Vail, M.D.; Ronald Paquette, M.D.; Celeste Eno, Ph.D., D(ABMGG)
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Unique Patterns of BTK Resistance: Two Independently Arising Resistance Clones in Response to Covalent BTK Inhibitor Therapy in CLL/SLL
Hani El Achkar, M.D.; Marie Das, M.D.; David Wu, M.D., Ph.D.; Daniel Sabath, M.D., Ph.D.
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Germline Variant Not Present in Tumor?
Sobrina Mohammed, M.D.; Daniel J. Mettman, M.D.
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Identifying the Signal in the Signal: Incidental Detection of B-cell Lymphoproliferative Disorder Related Variants in the Molecular Profiling of a Spindle Cell Sarcoma
Ting Zhao, M.D.; Robert P. Hasserjian, M.D., Ph.D.; Ivan A. Chebib, M.D.; Adam S. Fisch, M.D., Ph.D.
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A 67-Year-Old Female with Rare Intracranial Mesenchymal Tumor Featuring the EWSR1::CREM Fusion Gene
Rachel Radigan, M.P.H.; Alexa Finkelstein, B.S.; Tejus A. Bale, M.D., Ph.D.; Michael Zaidinski, B.S.; Marc K. Rosenblum, M.D.; Thomas Cawte, M.D.; Dong Zhang, Ph.D.; Maria Plummer, M.D.; Wallace Chan, M.D.
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2024

Evaluation of the genetic findings in B-cell lymphoma in the context of clinicopathological data
Alexander Gross, M.D.; Hamama Bushra, M.D.; Emily Mason, M.D., Ph.D.; Nico Lopez-Hisijos, D.O.; Rebecca B. Smith, Ph.D.; Laura A. Lee, M.D., Ph.D.; Barbara Nelson, Ph.D.; Ashwini Yenamandra, Ph.D.
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Molecular insights into the bi-clonal presence of inversion 16 and Philadelphia chromosome in relapsed post-treatment acute myeloid leukemia
Maria Faraz, MBBS; Rupinder Brar, M.D.; Neharika Shrestha, M.D.; Xin Wang, M.D.; Kristina Mary Subik, M.D.
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Large B-cell lymphoma with IRF4 rearrangement of retroperitoneal lymph node in an elderly male with concomitant high-grade B-cell lymphoma without IRF4r masquerading as a gastric ulcer
Ejas Palathingal Bava, M.D.; Hira Qadir, M.D.; Yulei Shen, M.D., Ph.D.; Juan Gomez-Gelvez, M.D.; Xiaolan Fang, Ph.D.; Kedar Inamdar, M.D., Ph.D.; Wei Liu, M.D., Ph.D.; Sharmila Ghosh, M.D.
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Male or female? Integrated molecular and cytogenetic testing resolves discordant prenatal results
Ting Wen, M.D., Ph.D.; Daniel Reich, Ph.D.; Jian Zhao, Ph.D.; Denise I. Quigley, Ph.D.; Rong Mao, M.D.; Katie Rudd, Ph.D.
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Use of molecular techniques to solve a challenging case of primary cutaneous marginal zone lymphoma
Maciej Kabat, M.D.; Anja Jones, M.D.; Xiangyang Li, M.S.; Tatyana Feldman, M.D.; Xiao Yang, M.D.; Jennifer Zepf, D.O.; Kar Chow, M.D.; Pritish Bhattacharyya, M.D.
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Acute myeloid leukemia with hyperdiploidy
Zeeshan Ansar, MBBS; Hareem Alam, MBBS; Muhammad Shariq, MBBS; Hasan Hayat, MBBS; Asghar Nasir, Ph.D.; Tariq Moatter, Ph.D.
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2023

Potential von Hippel-Lindau syndrome in a patient with negative germline testing
Patricia V. Hernandez, M.D.; Andrea Stacy, M.S., CGC; Kevin M. Bowling, Ph.D.; Meagan Corliss, M.S., CGC; Yang Cao, Ph.D.
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Identification of multiple germline cancer predisposing gene variants in a single patient during tumor sequencing analysis
Narek Israelyan, M.D., M.S.; Dylane Wineland, M.S., LCGC; Salvatore F. Priore, M.D., Ph.D.; Jacquelyn J. Roth, Ph.D.
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Lung micropapillary adenocarcinomas revisited: A tale of antithesis with yearslong accumulative genetic alterations
Ejas Palathingal Bava, M.D.; Zhiqiang B. Wang, M.D., Ph.D.
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Small intragenic structural variants in SATB2-associated syndrome
Zita Hubler, M.D., Ph.D.; Catherine Gooch, M.D.; Erin Hediger, CGC; Yang Cao, Ph.D.
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A germline GATA2 c.121C>G (p.P41A) variant in a patient with an unusual acute promyelocytic leukemia
Julia An, M.D.; Debra Saxe, Ph.D.; Jaime Vengoechea, M.D.; Shiyong Li, M.D., Ph.D.
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2022

ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma
Khadija Belhassan, M.D.; Abdulrahman Saadalla, MB, Bch; Nicole L. Hoppman, Ph.D.; Yi-Shan Lee, M.D., Ph.D.; Camille N. Abboud, M.D.; Matt Webley, CG(ASCP); Sarah Koon, CG(ASCP); Julie Neidich, M.D.; Yang Cao, Ph.D.
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A case of a rare myeloid neoplasm presenting with features mimicking primary myelofibrosis
Neha Gupta, M.D.; Selina Luger, M.D.; Dale M. Frank, M.D.; Jacquelyn J. Roth, Ph.D.; Salvatore F. Priore, M.D., Ph.D.
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Rhinoscleroma in Southern California—diagnosis made by multidisciplinary investigation
Edwin Kamau, Ph.D.; Tara Narasumhalu, M.D.; Omai Garner, Ph.D.; Abie H. Mendelsohn, M.D.; Jeffrey D. Goldstein, M.D.; Shangxin Yang, Ph.D.
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2021

Identification of encephalomyocarditis virus using metagenomic NGS in a patient with acute febrile illness
Gabriel Yan, MBBS; Chun Kiat Lee, M.Sc.; Shaun Tan, MBBS; Stephen Chew, MBBS; Paul Anantharajah Tambyah, MBBS; Benedict Yan, MBBS
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A patient with an unexpected cancer predisposition syndrome—somatic tumor mutation testing and germline mutation testing complement each other
Blair Barnes, M.D.; Faith Young, M.D.; Kristin Mattie, M.S.; Kathryn Zarnawski, MGC; Tina Bocker Edmonston, M.D.
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Celiac genetic health risk screening by NGS in the family of a child with clinical findings of dermatitis herpetiformis and gluten sensitivity
Shelly Gunn, M.D., Ph.D.; Mathew W. Moore, Ph.D.; Philip D. Cotter, Ph.D.
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MYC amplification identified in an EML4-ALK-positive lung adenocarcinoma with primary resistance to targeted therapy
Guang Yang, M.D., Ph.D.; Michelle Dolan, M.D.; Haixia Qin, M.D., Ph.D.; Manish R. Patel, D.O.; Sophia Yohe, M.D.; Andrew C. Nelson, M.D., Ph.D.
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Adult B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like
Audra Kerwin, M.D.; Devon Chabot-Richards, M.D.; Laura Toth, D.O., MPH
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A CLL/SLL case with distinctive molecular and cytogenetic changes during different stages of disease progression
Jing Xu, M.D., Ph.D.; Guanglu Shi, Ph.D.; Ozlem Kulak, M.D., Ph.D.; Weina Chen, M.D., Ph.D.; Prasad Koduru, Ph.D.; Jeffrey Gagan, M.D., Ph.D.
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18-month-old female with poorly differentiated cerebellar tumor harboring BCOR internal tandem duplication
Laurel M. Bowen, M.D.; Eugenio Taboada, M.D.; Linda D. Cooley, M.D., MBA; Alan S. Gamis, M.D., MPH; Midhat S. Farooqi, M.D., Ph.D.
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2020

A vanishing twin as an explanation for discordant fetal sex results with NIPS and ultrasound
Lisa M. Blazejewski, M.S.; Neng Chen, Ph.D.; Ke Zhang, Ph.D.; Franklin Quan, Ph.D.
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Role of lymphoma sequencing panel in diagnosis of pediatric-type follicular lymphoma
Guang Yang, M.D., Ph.D.; Gabriel C. Caponetti, M.D.; Jacquelyn J. Roth, Ph.D.; Kojo S. Elenitoba-Johnson, M.D.; Megan S. Lim, M.D., Ph.D.
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TET2TET—reconciling conflicting genomic reports
Loren Joseph, M.D.; Derek Jones, M.D.
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Culture-negative endocarditis due to Tropheryma whipplei
Catherine M. Stefaniuk, D.O.; Daniel D. Rhoads, M.D.; Michael R. Jacobs, MB BCh, Ph.D.
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Burkitt-like lymphoma with 11q aberration
Jing Xu, M.D., Ph.D.; Abdullah Alsuwaidan, M.D.; Mingyi Chen, M.D., Ph.D.
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Unexpected diagnosis of indolent systemic mastocytosis through evaluation of next generation sequencing data
Karen A. Moser, M.D.; Tracy I. George, M.D.; Kristin H. Karner, M.D.
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CCND1/IGH fusion amplification in a case of plasma cell myeloma
Matthew R. Avenarius, Ph.D.; Lynne V. Abruzzo, M.D., Ph.D.
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NGS as the Tiebreaker in Tumors with Similar Morphology and Equivocal Immunophenotype
Kiavash Garakani, M.S.; Patrick Devine, M.D., Ph.D.; Roberto Ruiz-Cordero, M.D.
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Advantages of SNP chromosomal microarray over conventional FISH and DNA tests for methylation-specific PCR-positive Prader-Willi syndrome
Jie Xu, Ph.D.; Ilka Warshawsky, M.D., Ph.D.; Sam Dougaparsad, Ph.D.; Catherine Melver, M.D.; Carrie Costin, M.D.
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Frameshift and in-frame CALR exon 9 genetic alterations detected in a post-ET myelofibrosis patient before and after stem cell transplantation
Guang Yang, M.D., Ph.D.; David S. Viswanatha, M.D.; Rong He, M.D.
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2019

Identification of a single exon deletion using NGS in a patient with Perlman syndrome
Jinhua Wu, Ph.D.; Jeffrey Schubert, Ph.D.; Xiaonan Zhao, Ph.D.; Elizabeth Fanning, M.S.; Zhiqian Fa, M.S.; Lisa Sutton, M.D.; Marilyn M. Li, M.D.
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Use of MYD88 sequencing to confirm diagnosis of PIOL in a case with limited sample availability
Rachel Su Jen Wong, MBBS; Anand Jeyas-ekharan, MBBS; Xinyi Su, MBB Chir, Ph.D., MMEd; Kok Siong Poon, M.Sc.; Soo Yong Tan, MBBS, DMJ, D.Phil.; Gopal Lingam, MBBS, M.S.; Benedict Yan, MBBS
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Next Generation Sequencing of a Rare Metastatic Bladder Adenocarcinoma
Erica Vormittag-Nocito, M.D.; Tibor Valyi-Nagy, M.D., Ph.D.; Gayatry Mohapatra, Ph.D.
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Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET
Kristle Haberichter, D.O.; Ann Marie Blenc, M.D.; Anne Prada, MB(ASCP); Bobby L. Boyanton Jr., M.D.
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Response to second-line osimertinib in primary EGFR p.T790M mutation
Sewanti Limaye, MBBS, M.D., M.S.; Madhavi Pusalkar, Ph.D.; Foram Kothari, MBBS; Meenal Hastak, MBBS, M.D.; Varsha Vadera, MBBS, M.D.; Rajesh Mistry, MBBS, M.S.; Jaya Vyas, Ph.D.
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Acute promyelocytic leukemia with cryptic t(15;17) identified by RT-PCR
Brittany Coffman, M.D.; Brian Menkhaus, M.D.; Devon Chabot-Richards, M.D.
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FDA-approved DNA blood test for colorectal cancer prompts patient to undergo colonoscopy
Nicholas Potter, Ph.D.; Faisal Bhinder, M.D.; Jeffrey Cossman, M.D.
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Diagnostic pitfalls of testing rare molecular aberrations in lung adenocarcinomas
Salvatore F. Priore, M.D., Ph.D.; Jason N. Rosenbaum, M.D.; Jacquelyn J. Roth, Ph.D.
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Identification by NGS of a diagnostic and theranostic mutation in a high-grade sarcoma of the humerus
Roberto Ruiz-Cordero, M.D.; Jeanne M. Meis, M.D.; Russell R. Broaddus, M.D., Ph.D.
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2015

Multiplex PCR test for detection of enteropathogens in an infant
Donald Lazas, M.D.; Leslie C. Ber, M.D.; Elena Grigorenko, Ph.D.; Don Stalons, Ph.D.
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Value of targeted NGS in a diagnostically challenging case of CMML
Matthew Geller, D.O.; Elie Traer, M.D., Ph.D.; Jennifer Dunlap, M.D.
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Coexisting germline mutations in APC and BRCA2 in a patient with colon cancer
Tsetan Dolkar, M.D.; Jennifer Zikria, M.D.; Stuart Bussell, M.D.; Shannon Morrill-Cornelius, M.S., CGC; Rina Siddiqui, M.D.
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Colorectal carcinoma with germline MLH1 promoter hypermethylation
Daniel Bustamante, M.D.; Devon Chabot-Richards, M.D.
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Molecular techniques in a case of concurrent BCR-ABL1-positive chronic CML and CMML
Shalini Verma, M.D.; Alessandra Ferrajoli, M.D.; Sa Wang, M.D.; Lynne V. Abruzzo, M.D., Ph.D.; Rachel L. Sargent, M.D.
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Application of molecular techniques to confirm donor-derived post-transplant lymphoproliferative disorder
Gordana L. Katava, D.O.; Michele Donato, M.D.; Tao Hong, Ph.D.; Ciaran Mannion, M.D.; Pritish K. Bhattacharyya, M.D.
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2014

Molecular assays in HIV-1 Dx and therapeutic monitoring
Elizabeth M. Azzato, M.D., Ph.D., MPH; Paul H. Edelstein, M.D.; Christopher D. Watt, M.D., Ph.D.
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NaCGH as a diagnostic aid in a childhood Spitzoid melanoma
Richard Danialan, D.O.; Arun Gopinath, M.D.; Michael Murphy, M.D.; Christine Rader, M.D.; Andrew Ricci Jr., M.D.; Jonathan Earle, M.D.; Zendee Elaba, M.D.
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Importance of screening for Lynch syndrome in patients with EC
Erik G. Jenson, M.D.; Gregory J. Tsongalis, Ph.D.; Laura J. Tafe, M.D.
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Multilocus sequencing for rapid identification of molds
Desiree Marshall, M.D.; Dhruba J. SenGupta, Ph.D.; Daniel R. Hoogestraat, MB(ASCP); Karen Stephens, Ph.D.; Brad T. Cookson, M.D., Ph.D.; Cecilia C.S. Yeung, M.D.
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Submission Guidelines

The AMP Case Reports for CAP TODAY are intended to help pathologists who are not yet especially familiar with molecular pathology to understand the power and appropriate use of molecular tests. The teaching strategy will be to take them from what they do know, e.g., special stains, to new knowledge in molecular pathology.
A clinical case (no patient identifiers) that illustrates the important role of molecular testing to achieve an appropriate diagnosis, prognosis, role in treatment selection, etc. The case should emphasize the role of molecular diagnostics in patient care rather than the technical aspects of the test.
The case should not serve as a promotional piece for a specific product or brand.
Length: approximately 1,000 words (flexible, depending on need to communicate case)
Narrative format, images, tables and diagrams can be used and are encouraged – color, if available. Images should be provided in JPG or TIF format.
Three multiple choice questions about the case with answers. The questions will appear in the article and the answers will appear on the AMP Website. These do not need to be exam-caliber questions.
Short list of relevant references. List should be in order of appearance, not alpha by author.
List of authors including degrees and title within organization.
Authors will have the opportunity to review and comment upon any revisions desired by the CAP Today editors.
The corresponding author must be a current AMP member.

AMP Case Reports in CAP Today

2026