ABMGG Molecular Genetic Pathology case studies
ABMGG Molecular Genetic Pathology · Put your knowledge to work in context.
The ABMGG Molecular Genetic Pathology (MGP) subspecialty certification is a credential for physicians who have completed relevant residency training and an accredited MGP fellowship and who want to demonstrate competence in laboratory-based molecular diagnostics. It is aimed at pathologists and clinical geneticists who direct or interpret molecular testing rather than at research scientists. The ABMGG Molecular Genetic Pathology case studies are 5 cases and about 2,596 words.
1Tumor-Only Sequencing With a Suspicious Variant Allele Fraction
A 58-year-old woman with metastatic lung adenocarcinoma undergoes targeted DNA sequencing of a 60-gene panel on formalin-fixed paraffin-embedded tumor. Estimated tumor content by pathology review is 45%.
637 words, about 3 min2Incidental Finding in a Prenatal Microarray With a Balanced Parental Karyotype
A 34-year-old G2P1 woman undergoes amniocentesis at 20 weeks for ultrasound findings of mild ventriculomegaly and a single umbilical artery. Chromosomal microarray on amniocytes reports a 620-kb deletion at 15q11.2 (BP1-BP2 region, including TUBGCP5, CYFIP1, NIPA1, NIPA2).
558 words, about 3 min3A 'Negative' CFTR Result in a Child With Classic Symptoms
A 3-year-old boy has recurrent respiratory infections, steatorrhea, and failure to thrive; sweat chloride is 92 mmol/L on two occasions. A 50-variant CFTR genotyping panel returns negative (no variants detected).
479 words, about 2 min4A Somatic Variant at the Edge of Detection in a Myeloid Neoplasm
A 67-year-old man with pancytopenia and 4% blasts in the marrow undergoes a 40-gene myeloid next-generation sequencing panel on bone marrow. The report identifies a JAK2 V617F at 1.8% VAF (alternate reads 9 of 512; limit of detection 2% VAF at ≥500x) and a DNMT3A R882H at 31% VAF.
467 words, about 2 min5Pharmacogenomic Result in a Patient Facing Clopidogrel After Stenting
A 61-year-old man undergoes drug-eluting stent placement after an acute coronary syndrome. His cardiologist orders CYP2C19 genotyping before starting clopidogrel.
455 words, about 2 min