AMP Case Reports in CAP Today

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.

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	Self-Test Answers
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	Self-Test Answers
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	Self-Test Answers
TET2TET—reconciling conflicting genomic reports	Loren Joseph, MD; Derek Jones, MD	Self-Test Answers
Culture-negative endocarditis due to Tropheryma whipplei	Catherine M. Stefaniuk, DO; Daniel D. Rhoads, MD; Michael R. Jacobs, MB BCh, PhD	Self-Test Answers
Burkitt-like lymphoma with 11q aberration	Jing Xu, MD, PhD; Abdullah Alsuwaidan, MD; Mingyi Chen, MD, PhD	Self-Test Answers
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	Self-Test Answers
CCND1/IGH fusion amplification in a case of plasma cell myeloma	Matthew R. Avenarius, PhD; Lynne V. Abruzzo, MD, PhD	Self-Test Answers
NGS as the Tiebreaker in Tumors with Similar Morphology and Equivocal Immunophenotype	Kiavash Garakani MS, Patrick Devine MD, PhD, Roberto Ruiz-Cordero MD	Self-Test Answers
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	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, MD, PhD; David S. Viswanatha, MD; Rong He, MD	Self-Test Answers
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	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, PhD, MMEd; Kok Siong Poon, MSc; Soo Yong Tan, MBBS, DMJ, DPhil; Gopal Lingam, MBBS, MS; Benedict Yan, MBBS	Self-Test Answers
Next Generation Sequencing of a Rare Metastatic Bladder Adenocarcinoma	Erica Vormittag-Nocito, MD; Tibor Valyi-Nagy, MD, PhD; Gayatry Mohapatra, PhD	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, DO Ann Marie Blenc, MD Anne Prada, MB(ASCP) Bobby L. Boyanton Jr., MD	Self-Test Answers
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	Self-Test Answers
Acute promyelocytic leukemia with cryptic t(15;17) identified by RT-PCR	Brittany Coffman, MD Brian Menkhaus, MD Devon Chabot-Richards, MD	Self-Test Answers
FDA-approved DNA blood test for colorectal cancer prompts patient to undergo colonoscopy	Nicholas Potter, PhD; Faisal Bhinder, MD; Jeffrey Cossman, MD	Self-Test Answers
Diagnostic pitfalls of testing rare molecular aberrations in lung adenocarcinomas	Salvatore F. Priore, MD, PhD; Jason N. Rosenbaum, MD; Jacquelyn J. Roth, PhD	Self-Test Answers
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	Self-Test Answers
Discordant IHC/PCR test results for mismatch repair status in colorectal adenocarcinoma	Jenna McCracken, MD, PhD; Jadee Neff, MD, PhD	Self-Test Answers
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	Self-Test Answers
NGS in the diagnosis of RASopathies in histologically uniformative skin biopsy samples	Shiva Khoobyari, MD, Eric Q. Konnick, MD,	Self-Test Answers
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	Self-Test Answers
Follicular lymphoma of gallbladder	Thomas Shi, MD; Mohammad Alomari, MD; Ping Yang, PhD; Bekim Sadikovic, PhD; Nikhil Sangle, MD; Christopher J. Howlett, MD, PhD	Self-Test Answers
*Primary pulmonary adenocarcinoma with an unusual molecular profile of the EGFR* gene at initial presentation**	Hasan Khatib, MD; Franklin Moore, MD, PhD	Self-Test Answers
NGS panel aids in diagnosis of rare collision tumor	Jonas Heymann, MD Antonia Sepulveda, MD, PhD	Self-Test Answers
An unusual BRAF mutation in a patient with melanoma	Thomas McDonald, MD, MSc Frank Kuo, MD, PhD	Self-Test Answers
Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1	Michael A. Nalesnik, MD Aatur D. Singhi, MD, PhD	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, MD Cecilia Yeung, MD Min Fang, MD, PhD	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, MD Zhiqiang Wang, MD, PhD	Self-Test Answers
*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	Self-Test Answers
A new case of severe hemophilia and Moyamoya (SHAM) syndrome	Colleen G. Bilancia, PhD Hemant Varma, MD Vimla Aggarwal, MBBS	Take the Self-Test
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	Take the Self-Test
SSI8-SSX2 fusion transcript in the diagnosis of a poorly differentiated synovial sarcoma	Erik R. Washburn, MD Elizabeth E. Frauenhoffer, MD Rina Kansal, MD	Take the Self-Test
Metastatic cancer of unknown primary: diagnostic challenges	Erica Schramm William Kocher, MD Tina Bocker Edmonston, MD	Take the Self-Test
Multiplex PCR test for detection of enteropathogens in an infant	Donald Lazas, MD Leslie C. Ber, MD Elena Grigorenko, PhD Don Stalons, PhD	Take the Self-Test
Value of targeted NGS in a diagnostically challenging case of CMML	Matthew Geller, DO Elie Traer, MD, PhD Jennifer Dunlap, MD	Take the Self-Test
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	Take the Self-Test
Colorectal carcinoma with germline MLH1 promoter hypermethylation	Daniel Bustamante, MD Devon Chabot-Richards, MD	Take the Self-Test
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	Take the Self-Test
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	Take the Self-Test
Molecular assays in HIV-1 Dx and therapeutic monitoring	Elizabeth M. Azzato, MD, PhD, MPH Paul H. Edelstein, MD Christopher D. Watt, MD, PhD	Take the Self-Test
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	Take the Self-Test
Importance of screening for Lynch syndrome in patients with EC	Erik G. Jenson, MD Gregory J. Tsongalis, PhD Laura J. Tafe, MD	Take the Self-Test
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	Take the Self-Test

AMP Case Reports in CAP Today

Frameshift and in-frame CALR exon 9 genetic alterations detected in a post-ET myelofibrosis patient before and after stem cell transplantation

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

**Use of MYD88 sequencing to confirm diagnosis of PIOL in a case with limited sample availability**

Next Generation Sequencing of a Rare Metastatic Bladder Adenocarcinoma

Coexisting somatic JAK2 V617F pathogenic variant and likely germline calreticulin exon 9 nonpathogenic variant in a patient with newly diagnosed ET

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

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

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

Diagnostic pitfalls of testing rare molecular aberrations in lung adenocarcinomas

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

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

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

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

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

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