CLINICAL PRACTICE

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!

Submit a Case Report

View submission guidelines.

2025
Germline Variant Not Present in Tumor? Sobrina Mohammed, MD
Daniel J. Mettman, MD		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
Adult B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like Audra Kerwin, M.D.
Devon Chabot-Richards, M.D.
Laura Toth, D.O., MPH		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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.		 Self-Test Answers
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.		 Self-Test Answers
TET2TET—reconciling conflicting genomic reports Loren Joseph, M.D.
Derek Jones, M.D.		 Self-Test Answers
Culture-negative endocarditis due to Tropheryma whipplei Catherine M. Stefaniuk, D.O.
Daniel D. Rhoads, M.D.
Michael R. Jacobs, MB BCh, Ph.D.		 Self-Test Answers
Burkitt-like lymphoma with 11q aberration Jing Xu, M.D., Ph.D.
Abdullah Alsuwaidan, M.D.
Mingyi Chen, M.D., Ph.D.		 Self-Test Answers
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.		 Self-Test Answers
CCND1/IGH fusion amplification in a case of plasma cell myeloma Matthew R. Avenarius, Ph.D.
Lynne V. Abruzzo, M.D., Ph.D.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

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.		 Self-Test Answers
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		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers
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.		 Self-Test Answers

2018
Discordant IHC/PCR test results for mismatch repair status in colorectal adenocarcinoma Jenna McCracken, M.D., Ph.D.
Jadee Neff, M.D., Ph.D.		 Self-Test Answers
Detection of concurrent hematologic malignancies in solid tumor NGS testing may cause false positive results Jordan Baum, M.D.
Rebecca Marrero, M.D.
Alain Borczuk, M.D.
Hanna Rennert, Ph.D.		 Self-Test Answers
NGS in the diagnosis of RASopathies in histologically uniformative skin biopsy samples Shiva Khoobyari, M.D.
Eric Q. Konnick, M.D.		 Self-Test Answers
Detection of rare deletion mutation in the alpha-globin gene locus establishes a diagnosis of Hb H disease Neng Chen, Ph.D., DABMGG
Cathi Rubin Franklin, M.S., LCGC, DABMGG
Franklin Quan, Ph.D., DABMGG		 Self-Test Answers

2017
Follicular lymphoma of gallbladder Thomas Shi, M.D.
Mohammad Alomari, M.D.
Ping Yang, Ph.D.
Bekim Sadikovic, Ph.D.
Nikhil Sangle, M.D.
hristopher J. Howlett, M.D., Ph.D.		 Self-Test Answers
Primary pulmonary adenocarcinoma with an unusual molecular profile of the EGFR gene at initial presentation Hasan Khatib, M.D.
Franklin Moore, M.D., Ph.D.		 Self-Test Answers
NGS panel aids in diagnosis of rare collision tumor Jonas Heymann, M.D.
Antonia Sepulveda, M.D., Ph.D.		 Self-Test Answers
An unusual BRAF mutation in a patient with melanoma Thomas McDonald, M.D., M.Sc.
Frank Kuo, M.D., Ph.D.		 Self-Test Answers

2016
Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1 Michael A. Nalesnik, M.D.
Aatur D. Singhi, M.D., Ph.D.		 Self-Test Answers
Detection of cnLOH as a sole abnormality in the diagnosis of myelodysplastic syndrome Christine Gronseth, CG(ASCP)CM
Scott McElhone, MB(ASCP)CM
Bart Scott, M.D.
Cecilia Yeung, M.D.
Min Fang, M.D., Ph.D.		 Self-Test Answers
Laser Capture Microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection Rohit Sharma, M.D.
Zhiqiang Wang, M.D., Ph.D.		 Self-Test Answers
ALK-negative anaplastic large T-cell lymphoma with a complex karyotype and DUSP22 gene rearrangement Kristle Haberichter, D.O.
Domnita Crisan, M.D., Ph.D.
Mark A. Micale, Ph.D.		 Self-Test Answers
A new case of severe hemophilia and Moyamoya (SHAM) syndrome Colleen G. Bilancia, Ph.D.
Hemant Varma, M.D.
Vimla Aggarwal, MBBS		 Take the Self-Test
A rare case of Diamond Blackfan anemia: Identifying the causative mutation using NGS Mythily Ganapathi, Ph.D.
Matthew Thomsen, MPH
Sarah Vossoughi, M.D.
Murty Vundavalli, Ph.D.
Govind Bhagat, MBBS
Mahesh Mansukhani, M.D.
Vimla S. Aggarwal, MBBS		 Take the Self-Test
SSI8-SSX2 fusion transcript in the diagnosis of a poorly differentiated synovial sarcoma Erik R. Washburn, M.D.
Elizabeth E. Frauenhoffer, M.D.
Rina Kansal, M.D.		 Take the Self-Test
Metastatic cancer of unknown primary: diagnostic challenges Erica Schramm
William Kocher, M.D.
Tina Bocker Edmonston, M.D.		 Take the Self-Test

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.		 Take the Self-Test
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.		 Take the Self-Test
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.		 Take the Self-Test
Colorectal carcinoma with germline MLH1 promoter hypermethylation Daniel Bustamante, M.D.
Devon Chabot-Richards, M.D.		 Take the Self-Test
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.		 Take the Self-Test
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.		 Take the Self-Test

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.		 Take the Self-Test
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.		 Take the Self-Test
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.		 Take the Self-Test
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.		 Take the Self-Test

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.

Back to Top

Corporate Partners