Case Studies

Chimeric antigen receptor T cells (CAR T cells) represent an exciting new area of cellular therapy. Manufacturing autologous CAR T cells involves virally transducing a[...]

A 19 year old female with a complex phenotype suggestive of a mitochondrial disorder had mitochondrial DNA sequencing performed three times at an outside institution,[...]

This is a surgical pathology case of a 70-year-old woman with multiple bilateral relatively stable lung nodules and history of metastatic leiomyosarcoma of Mullerian origin[...]

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for December include the following sub-specialties: Biochemical Genetics, Bone and Soft Tissue, Dermatopathology, and Genitourinary.

A 12 week old boy presented with a 6 cm heterogeneous solid mass with cystic change, involving the mid/lower pole of the right kidney. Grossly,[...]

A 29 year old female presents with large, painless right abdominal wall mass. The mass was excised, and microscopic evaluation demonstrated an infiltrative spindle cell[...]

A 7-year old boy presented with growing skin lesion on the back. Chady Meroueh, M.D.Fellow, Clinical Informatics Mayo Clinic Thomas Flotte, M.D.Consultant, Anatomic PathologyMayo ClinicProfessor[...]

64 year old female with an outside diagnosis of porphyria cutanea tarda (PCT), with a new onset of abdominal pain. She had a complex constellation[...]

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for November include the following sub-specialties: Cytogenetics, Genetics, Gynecological, and Molecular Genetics.

1-day-old female born with omphalocel, macroglossia, and enlarged kidneys. Julie Li, B.Med., Ph.D.Fellow, Molecular Genetic PathologyMayo Clinic Matthew Ferber, Ph.D.Consultant, Laboratory Genetics and GenomicsMayo ClinicAssociate[...]

A 30-year-old woman suffers a miscarriage, and the product of conception is sent for cytogenetic testing to rule out cytogenetic abnormalities. A chromosomal microarray performed[...]

A 60-year-old woman presented for evaluation of hirsutism. She was found to have an elevated total testosterone level of 331 ng/dL(reference range 8-60 ng/dL) and[...]

α-globin gene analysis testing was performed on a 30-year-old man with unknown clinical history. Gene dosage was assessed using multiplex ligation-dependent probe amplification (MLPA). Multiplex[...]