AMP Case Reports in CAP Today

AMP Seeking Case Reports for Potential Publication 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!

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Male or female? Integrated molecular and cytogenetic testing resolves discordant prenatal results Ting Wen, MD, PhD;
Daniel Reich, PhD;
Jian Zhao, PhD;
Denise I. Quigley, PhD;
Rong Mao, MD;
Katie Rudd, PhD
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Use of molecular techniques to solve a challenging case of primary cutaneous marginal zone lymphoma

Maciej Kabat, MD; Anja Jones, MD; Xiangyang Li, MS; Tatyana Feldman, MD
Xiao Yang, MD; Jennifer Zepf, DO; Kar Chow, MD; Pritish Bhattacharyya, MD

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Acute myeloid leukemia with hyperdiploidy Zeeshan Ansar, MBBS;
Hareem Alam, MBBS;
Muhammad Shariq, MBBS;
Hasan Hayat, MBBS; Asghar Nasir, PhD
 Tariq Moatter, PhD
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Potential von Hippel-Lindau syndrome in
a patient with negative germline testing
Patricia V. Hernandez, MD;
Andrea Stacy, MS, CGC;
Kevin M. Bowling, PhD;
Meagan Corliss, MS, CGC;
Yang Cao, PhD
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Identification of multiple germline cancer predisposing gene variants in a single patient during tumor sequencing analysis

Narek Israelyan, MD, MS; Dylane Wineland, MS, LCGC; Salvatore F. Priore, MD, PhD; Jacquelyn J. Roth, PhD

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Lung micropapillary adenocarcinomas revisited: A tale of antithesis with yearslong accumulative genetic alterations

Ejas Palathingal Bava, MD; Zhiqiang B. Wang, MD, PhD

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Small intragenic structural variants in SATB2-associated syndrome

Zita Hubler, MD, PhD; Catherine Gooch, MD;
Erin Hediger, CGC; Yang Cao, PhD

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A germline GATA2 c.121C>G (p.P41A) variant in a patient with an unusual acute promyelocytic leukemia Julia An, MD;
Debra Saxe, PhD;
Jaime Vengoechea, MD;
Shiyong Li, MD, PhD
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ETV6/FLT3 fusion gene detected in a patient with T-cell lymphoblastic lymphoma

Khadija Belhassan, MD; Abdulrahman Saadalla, MB, Bch; Nicole L. Hoppman, PhD; Yi-Shan Lee, MD, PhD; Camille N. Abboud, MD; Matt Webley, CG(ASCP); Sarah Koon, CG(ASCP); Julie Neidich, MD; Yang Cao, PhD

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A case of a rare myeloid neoplasm presenting with features mimicking primary myelofibrosis

Neha Gupta, MD; Selina Luger, MD; Dale M. Frank, MD; Jacquelyn J. Roth, PhD; Salvatore F. Priore, MD, PhD

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Rhinoscleroma in Southern California— diagnosis made by multidisciplinary investigation

Edwin Kamau, PhD; Tara Narasumhalu, MD; Omai Garner, PhD; Abie H. Mendelsohn, MD; Jeffrey D. Goldstein, MD; Shangxin Yang, PhD

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Identification of encephalomyocarditis virus using metagenomic NGS in a patient with acute febrile illness

Gabriel Yan, MBBS; Chun Kiat Lee, MSc; 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, MD; Faith Young, MD; Kristin Mattie, MS; Kathryn Zarnawski, MGC; Tina Bocker Edmonston, MD

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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, MD, PhD; Mathew W. Moore, PhD; Philip D. Cotter, PhD

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MYC amplification identified in an EML4-ALK-positive lung adenocarcinoma with primary resistance to targeted therapy

Guang Yang, MD, PhD; Michelle Dolan, MD; Haixia Qin, MD, PhD; Manish R. Patel, DO; Sophia Yohe, MD; Andrew C. Nelson, MD, PhD

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Adult B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like

Audra Kerwin, MD; Devon Chabot-Richards, MD; Laura Toth, DO, MPH

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A CLL/SLL case with distinctive molecular and cytogenetic changes during different stages of disease progression

Jing Xu, MD, PhD; Guanglu Shi, PhD; Ozlem Kulak, MD, PhD; Weina Chen, MD, PhD; Prasad Koduru, PhD; Jeffrey Gagan, MD, PhD

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18-month-old female with poorly differentiated cerebellar tumor harboring BCOR internal tandem duplication

Laurel M. Bowen, MD; Eugenio Taboada, MD; Linda D. Cooley, MD, MBA; Alan S. Gamis, MD, MPH; Midhat S. Farooqi, MD, PhD

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A vanishing twin as an explanation for discordant fetal sex results with NIPS and ultrasound

Lisa M. Blazejewski, MS; Neng Chen, PhD; Ke Zhang, PhD; Franklin Quan, PhD

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Role of lymphoma sequencing panel in diagnosis of pediatric-type follicular lymphoma

Guang Yang, MD, PhD; Gabriel C. Caponetti, MD; Jacquelyn J. Roth, PhD; Kojo S. Elenitoba-Johnson, MD; Megan S. Lim, MD, PhD

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TET2TET—reconciling conflicting genomic reports

Loren Joseph, MD; Derek Jones, MD

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Culture-negative endocarditis due to Tropheryma whipplei

Catherine M. Stefaniuk, DO; Daniel D. Rhoads, MD; Michael R. Jacobs, MB BCh, PhD

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Burkitt-like lymphoma with 11q aberration

Jing Xu, MD, PhD; Abdullah Alsuwaidan, MD; Mingyi Chen, MD, PhD

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Unexpected diagnosis of indolent systemic mastocytosis through evaluation of next generation sequencing data

Karen A. Moser, MD; Tracy I. George, MD; Kristin H. Karner, MD

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CCND1/IGH fusion amplification in a case of plasma cell myeloma

Matthew R. Avenarius, PhD; Lynne V. Abruzzo, MD, PhD

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NGS as the Tiebreaker in Tumors with Similar Morphology and Equivocal Immunophenotype

Kiavash Garakani MS, Patrick Devine MD, PhD, Roberto Ruiz-Cordero MD

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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, PhD; Ilka Warshawsky, MD, PhD; Sam Dougaparsad, PhD; Catherine Melver, MD; Carrie Costin, MD

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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, MD, PhD; David S. Viswanatha, MD; Rong He, MD

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Identification of a single exon deletion using NGS in a patient with Perlman syndrome

Jinhua Wu, PhD; Jeffrey Schubert, PhD; Xiaonan Zhao, PhD; Elizabeth Fanning, MS; Zhiqian Fa, MS; Lisa Sutton, MD; Marilyn M. Li, MD

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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, PhD, MMEd; Kok Siong Poon, MSc; Soo Yong Tan, MBBS, DMJ, DPhil; Gopal Lingam, MBBS, MS; Benedict Yan, MBBS

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Next Generation Sequencing of a Rare Metastatic Bladder Adenocarcinoma

Erica Vormittag-Nocito, MD; Tibor Valyi-Nagy, MD, PhD; Gayatry Mohapatra, PhD

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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, DO
Ann Marie Blenc, MD
Anne Prada, MB(ASCP)
Bobby L. Boyanton Jr., MD

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Response to second-line osimertinib in primary EGFR p.T790M mutation

Sewanti Limaye, MBBS, MD, MS; Madhavi Pusalkar, PhD; Foram Kothari, MBBS; Meenal
Hastak, MBBS, MD; Varsha Vadera, MBBS, MD; Rajesh Mistry, MBBS, MS; Jaya Vyas, PhD

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Acute promyelocytic leukemia with
cryptic t(15;17) identified by RT-PCR

Brittany Coffman, MD
Brian Menkhaus, MD
Devon Chabot-Richards, MD

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FDA-approved DNA blood test for colorectal
cancer prompts patient to undergo colonoscopy

Nicholas Potter, PhD;
Faisal Bhinder, MD;
Jeffrey Cossman, MD

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Diagnostic pitfalls of testing rare molecular aberrations in lung adenocarcinomas

Salvatore F. Priore, MD, PhD; Jason N. Rosenbaum, MD; Jacquelyn J. Roth, PhD

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Identification by NGS of a diagnostic and theranostic mutation in a high-grade sarcoma of the humerus

Roberto Ruiz-Cordero, MD; Jeanne M. Meis, MD; Russell R. Broaddus, MD, PhD

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Discordant IHC/PCR test results for mismatch repair status in colorectal adenocarcinoma 

Jenna McCracken, MD, PhD; Jadee Neff, MD, PhD

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Detection of concurrent hematologic malignancies in solid tumor NGS testing may cause false positive results 

Jordan Baum, MD; Rebecca Marrero, MD; Alain Borczuk, MD; Hanna Rennert, PhD

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NGS in the diagnosis of RASopathies in histologically uniformative skin biopsy samples 

Shiva Khoobyari, MD, 
Eric Q. Konnick, MD, 

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Detection of rare deletion mutation in the alpha-globin gene locus establishes a diagnosis of Hb H disease

Neng Chen, PhD, DABMGG
Cathi ­Rubin Franklin, MS, LCGC, DABMGG
Franklin Quan, PhD, DABMGG

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Follicular lymphoma of gallbladder Thomas Shi, MD; Mohammad Alomari, MD;
Ping Yang, PhD; Bekim Sadikovic, PhD;
Nikhil Sangle, MD;
Christopher J. Howlett, MD, PhD
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Primary pulmonary adenocarcinoma with an unusual molecular profile of the EGFR gene at initial presentation

Hasan Khatib, MD; Franklin Moore, MD, PhD

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NGS panel aids in diagnosis of rare collision tumor Jonas Heymann, MD
Antonia Sepulveda, MD, PhD
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An unusual BRAF mutation in a patient with melanoma Thomas McDonald, MD, MSc
Frank Kuo, MD, PhD
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Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1 Michael A. Nalesnik, MD
Aatur D. Singhi, MD, PhD
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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, MD
Cecilia Yeung, MD
Min Fang, MD, PhD
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Laser Capture Microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection Rohit Sharma, MD
Zhiqiang Wang, MD, PhD
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ALK-negative anaplastic large T-cell lymphoma with a complex karyotype and DUSP22 gene rearrangement Kristle Haberichter, DO
Domnita Crisan, MD, PhD
Mark A. Micale, PhD
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A new case of severe hemophilia and Moyamoya (SHAM) syndrome Colleen G. Bilancia, PhD
Hemant Varma, MD
Vimla Aggarwal, MBBS
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A rare case of Diamond Blackfan anemia: Identifying the causative mutation using NGS Mythily Ganapathi, PhD
Matthew Thomsen, MPH
Sarah Vossoughi, MD
Murty Vundavalli, PhD
Govind Bhagat, MBBS
Mahesh Mansukhani, MD
Vimla S. Aggarwal, MBBS
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SSI8-SSX2 fusion transcript in the diagnosis of a poorly differentiated synovial sarcoma Erik R. Washburn, MD
Elizabeth E. Frauenhoffer, MD
Rina Kansal, MD
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Metastatic cancer of unknown primary: diagnostic challenges Erica Schramm
William Kocher, MD
Tina Bocker Edmonston, MD
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Multiplex PCR test for detection of enteropathogens in an infant Donald Lazas, MD
Leslie C. Ber, MD
Elena Grigorenko, PhD
Don Stalons, PhD
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Value of targeted NGS in a diagnostically challenging case of CMML Matthew Geller, DO
Elie Traer, MD, PhD
Jennifer Dunlap, MD
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Coexisting germline mutations in APC and BRCA2 in a patient with colon cancer Tsetan Dolkar, MD
Jennifer Zikria, MD
Stuart Bussell, MD
Shannon Morrill-Cornelius, MS, CGC
Rina Siddiqui, MD
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Colorectal carcinoma with germline MLH1 promoter hypermethylation Daniel Bustamante, MD
Devon Chabot-Richards, MD
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Molecular techniques in a case of concurrent BCR-ABL1-positive chronic CML and CMML Shalini Verma, MD
Alessandra Ferrajoli, MD
Sa Wang, MD
Lynne V. Abruzzo, MD, PhD
Rachel L. Sargent, MD
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Application of molecular techniques to confirm donor-derived post-transplant lymphoproliferative disorder Gordana L. Katava, DO
Michele Donato, MD
Tao Hong, PhD
Ciaran Mannion, MD
Pritish K. Bhattacharyya, MD
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Molecular assays in HIV-1 Dx and therapeutic monitoring Elizabeth M. Azzato, MD, PhD, MPH
Paul H. Edelstein, MD
Christopher D. Watt, MD, PhD
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NaCGH as a diagnostic aid in a childhood Spitzoid melanoma Richard Danialan, DO
Arun Gopinath, MD
Michael Murphy, MD
Christine Rader, MD
Andrew Ricci Jr., MD
Jonathan Earle, MD
Zendee Elaba, MD
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Importance of screening for Lynch syndrome in patients with EC
Erik G. Jenson, MD
Gregory J. Tsongalis, PhD
Laura J. Tafe, MD
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Multilocus sequencing for rapid identification of molds Desiree Marshall, MD
Dhruba J. SenGupta, PhD
Daniel R. Hoogestraat, MB(ASCP)
Karen Stephens, PhD
Brad T. Cookson, MD, PhD
Cecilia C.S. Yeung, MD

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