Pathways Case Studies: September 2019

23-year-old male with an isolated soft tissue mass on the back measuring 1.5 cm.
The mass is centered in the dermis and extending into the underlying adipose tissue. It is well circumscribed, red dermal-based nodule.

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	Vishnu Serla, M.B.B.S. Resident, Anatomic Pathology Mayo Clinic @vishnuserla
	Jorge Torres-Mora, M.D. Consultant, Anatomic Pathology Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

A 39-year-old woman presents with a 6 cm recurrent polypoid mass situated in the left pharyngeal wall (piriform sinus), initially resected five years ago.

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	Toshi Ghosh, M.D. Fellow, Surgical Pathology Mayo Clinic @ToshiGhoshMD
	Karen Fritchie, M.D. Consultant, Anatomic Pathology Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science @KarenFitchieMD

A 59-year-old kidney transplant patient presented after 1 week of low-grade fevers and non-productive cough. A CT scan of the lungs showed multiple mass-like lesions scattered bilaterally throughout, concerning for post-transplant lymphoproliferative disease or an infectious process. She underwent a bronchoalveolar lavage (BAL) with biopsy of a left upper lobe mass. Images of the Gram stain and modified acid-fast stain are shown in the figures below.

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	Sarah Jung, Ph.D. Fellow, Clinical Microbiology Mayo Clinic @JungASarah
	Nancy Wengenack, Ph.D. Consultant, Clinical Microbiology Mayo Clinic Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science
	Courtney Klapperich, MLS(ASCP) Education Specialist Instructor in Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

A 68-year-old male with history of chronic lymphocytic leukemia presented with subnephrotic range proteinuria (protein/creatinine ratio of 2.5), hemoglobin (13.1 g/dl) and ESR of 50 mm/hour. Core needle biopsy was performed to assess his proteinuria. Representative images of the biopsy are shown. Immunohistochemistry staining was performed and showed positive CD 20, CD 5, and CD 23.

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	Mazen Osman, M.B., B.Ch. Resident, Anatomic and Clinical Pathology Mayo Clinic
	Joseph Grande, M.D., Ph.D. Consultant, Anatomic Pathology Mayo Clinic Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

A 33-year-old female presents to her care team with liver cirrhosis (stage IV) and worsening liver failure. She is well known to her medical team and has a long history of blistering skin lesions in direct light. She received a liver transplant for her condition. The photomicrographs provided are of this patient’s explanted liver.

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	Elise Venable, M.B.B.S. Resident, Anatomic and Clinical Pathology Mayo Clinic @VenableMBBS
	Tsung-Teh Wu, M.D., Ph.D. Consultant, Anatomic Pathology Mayo Clinic Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

A 5 year old male patient with a complex phenotype was seen in clinic. He presented with developmental delay, feeding difficulty, cerebellar malformation, coagulation problems, hypothyroidism, retinitis pigmentosa, and bilateral hearing loss. Though not overweight, he also had abnormal distribution of body fat with fat pads in the lower back along with inverted nipples. Testing for congenital disorders of glycosylation (Figure1) showed results consistent with CDG Type I.

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	Adam Guenzel, Ph.D. Resident, Laboratory Genetics and Genomics Mayo Clinic
	Silvia Tortorelli, M.D., Ph.D. Consultant, Laboratory Genetics and Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science