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Tag Archives: AMP molecular case reports —

AMP case report: Isolated hepatic neuroendocrine tumor expressing albumin mRNA and arginase-1, December 2016

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.

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AMP case report: Detection of cnLOH as a sole abnormality in the diagnosis of myelodysplastic syndrome, November 2016

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.

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AMP case report: October 2016 test yourself answers

November 2016—In the October 2016 issue was a report, “Laser capture microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection,” written by members of the Association for Molecular Pathology. Here are answers (in bold) to the three “test yourself ” questions that followed that case report.

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AMP case report: Laser capture microdissection: Vanishing roles in tissue microdissection revalued in salvaging a melanoma with micrometastasis for BRAF V600E mutation detection, October 2016

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.

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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.

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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.

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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.

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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.

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