THIS MONTH’S ISSUE

Read, save, and print articles from the current issue

ARTICLES

Chronological index
2013–2016

PRODUCT GUIDES

Compare all instruments
and software systems

DEPARTMENTS

Chronological index
2013–2016

MARKETPLACE

New pathology lab products and industry news

Home » Archive by Tags

Articles tagged with: AMP molecular case reports –

Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1

December 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 the University of Pittsburgh Medical Center.

Detection of cnLOH as a sole abnormality in the diagnosis of myelodysplastic syndrome

November 2016—Copy neutral loss of heterozygosity (cnLOH) is an acquired abnormality found in patients with cancer and hematologic disorders and can be detected by molecular techniques such as PCR-based analyses and hybridization-based chromosome genomic array testing (CGAT). We report a case in which cnLOH was the sole abnormality detected by CGAT in a patient with myelodysplastic syndrome. This case illuminates the importance of utilizing CGAT results, namely cnLOH findings, as one of the primary diagnostic indicators in order to expedite initial therapies.

Laser capture microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection

October 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 the University of Florida College of Medicine, Jacksonville.

ALK-negative anaplastic large T-cell lymphoma with a complex karyotype and DUSP22 gene rearrangement

September 2016—ALK-negative anaplastic large T-cell lymphoma with a complex karyotype and DUSP22 gene rearrangement: A 55-year-old male with no significant past medical history presented to an outside institution with a one-month history of a right-sided neck mass. A CT of the neck revealed cervical lymphadenopathy.

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.

X