AMP Case Reports in CAP Today


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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