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Articles tagged with: AMP molecular case reports –

A new case of severe hemophilia and Moyamoya (SHAM) syndrome

August 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Columbia University Medical Center. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

July 2016—Diamond Blackfan anemia is a rare, inherited bone marrow failure syndrome manifesting as marked red cell aplasia and variable congenital anomalies. We report here a case of Diamond Blackfan anemia, which underscores the role of an integrated diagnostic workflow including hematopathologic evaluation and next-generation sequencing for establishing the diagnosis and potential management of rare, inherited bone marrow failure syndromes.

SS18-SSX2 fusion transcript in the diagnosis of a poorly differentiated synovial sarcoma

June 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. The following report comes from Penn State Milton S. Hershey Medical Center and Penn State College of Medicine. If you would like to submit a case report, please send an email to the AMP at amp@amp.org. For more information about the AMP and all previously published case reports, visit www.amp.org.

Metastatic cancer of unknown primary: diagnostic challenges

May 2016—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, and treatment. Case report No. 11, which begins here, comes from Cooper Medical School at Rowan University and Cooper University Hospital, Camden, NJ.

Multiplex PCR test for detection of enteropathogens in an infant

December 2015—Clostridium difficile is an anaerobic spore-forming, Gram-positive bacteria transmitted by the fecal-oral route. The virulence of Clostridium difficile is primarily conferred from two toxins, A and B. Disruption of the normal gut flora, typically from intake of antimicrobials, allows Clostridium difficile to proliferate, causing a broad spectrum of clinical symptoms from asymptomatic colonization to colitis, a spectrum of diarrhea severity, and a protracted course of disease.

Value of targeted NGS in a diagnostically challenging case of CMML

The 2008 World Health Organization diagnostic criteria for chronic myelomonocytic leukemia (CMML) integrate peripheral blood and bone marrow findings, including morphologic and chromosomal abnormalities. Notably, there is no single pathognomonic finding specific to CMML, and it is important to exclude secondary causes of monocytosis.

Coexisting germline mutations in APC and BRCA2 in a patient with colon cancer

June 2015—Tumor suppressor genes direct the production of proteins that regulate cell division. Mutations in these genes result in uncontrolled cell growth and may contribute to the development of a cancer. Adenomatous polyposis coli (APC) and breast cancer 2 (BRCA2) are two such genes.

Colorectal carcinoma with germline MLH1 promoter hypermethylation

April 2015—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is case No. 7.

Molecular techniques in a case of concurrent BCR-ABL1–positive CML and CMML

November 2014—CAP TODAY and the Association for Molecular Pathology have teamed up to bring molecular case reports to CAP TODAY readers. Here, this month, is case No. 6. (See the February, August, and September 2013 and the May and June 2014 issues for the first five.) AMP members write the reports using clinical cases from their own practices that show molecular testing’s important role in diagnosis, prognosis, treatment, and more. Case report No. 6 comes from UT-MD Anderson Cancer Center in Houston.

Using molecular techniques to confirm donor-derived post-transplant lymphoproliferative disorder

June 2014—Post-transplantation lymphoprolif-erative disorders (PTLD) encompass a spectrum of neoplasms, ranging from benign hyperplasia to non-Hodgkin lymphoma and Hodgkin lymphoma. Epstein-Barr virus is postulated to play a key role in the pathogenesis of PTLD in patients who were previously EBV negative. This is a case report of a 52-year-old female, status post unrelated bone marrow transplant for myelofibrosis, who developed primary central nervous system diffuse large B-cell lymphoma, post-transplantation.

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