AMP Case Reports in CAP Today


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

Shiva Khoobyari, MD, 
Eric Q. Konnick, MD, 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
A 48-year-old woman with endometrial cancer
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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