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June 2020 — Clinical Microbiology & Infectious Disease

A 77 year old man presented with 6-8 weeks of right sided neck pain associated with a rapidly enlarging mass, fatigue, and night sweats. A fine needle aspiration of the 7.1 cm hypermetabolic mass showed acute and chronic inflammation. The diagnostic findings on histopathologic examination of an excisional biopsy are shown in the pictures below (Figure 1: H&E and Figure 2: GMS) and were consistent with findings on tissue culture and serologic studies. The patient reported frequent trips to Arizona.

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Photo of Rebecca Marrero Rolon, M.D., Fellow, Clinical Microbiology, Mayo Clinic Rebecca Marrero Rolon, M.D.
Fellow, Clinical Microbiology
Mayo Clinic
Photo of Bobbi Pritt, M.D.   Bobbi Pritt, M.D.
Division Chair, Clinical Microbiology
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
@ParasiteGal

June 2020 — Clinical Microbiology

A 52 year old female with congenital asplenia presented to the emergency department with altered mental status, difficulty communicating, and neck pain. This had been preceeded by three days of right ear fullness and malaise. A lumber puncture was performed, significant for an opening pressure of >50 cm H2O, 20,565 nucleated cells/µl with neutrophil predominance, glucose 1250 mg/dL. Gram stain of the cerebrospinal fluidis shown (Figure).

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Photo of Kyle Rodino, Ph.D. Kyle Rodino, Ph.D.
Fellow, Clinical Microbiology
Mayo Clinic
@KGRodinoPhD

June 2020 — Molecular Pathology

A previously healthy 15 month-old female presented to ED with persistent non-bloody non-bilious vomiting, fever, and edema. Her serum creatinine was elevated (2.62 mg/dL). CBC showed markedly low hemoglobin (6.1 g/dL), decreased platelet counts (71x109/L). Peripheral blood smear examination revealed marked schistocytosis, consistant with a thrombotic microangiopathy. Normal ADAMTS13 enzyme activity and negative PCR testing for Shiga-toxin supported a diagnosis of atypical hemolytic uremic syndrome (aHUS). Subsequent genetic testing identified a pathogenic variant in CFH (complement factor-H), and a variant of uncertain significance in CHFR5.

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Photo of Abdulrahman Saadalla, M.B., B.Ch. Abdulrahman Saadalla, M.B., B.Ch.
Associate, Clinical Pathology
Mayo Clinic
Photo of Ann Moyer, M.D., Ph.D. Ann Moyer, M.D., Ph.D.
Associate, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

June 2020 — Laboratory Genetics and Genomics

Methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) was used for select family members of the pedigree shown here to test for the presence of large deletions, duplications and/or methylation defects in the imprinting control regions IC1 (H19) and IC2 (LIT1) on chromosome 11p15. The proband (IV-6) is a 21 month old female referred for genetic testing due to short stature along with growth and developmental delay.

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Photo of Laura Thompson, Ph.D. Laura Thompson, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Linda Hasadsri, M.D., Ph.D. Linda Hasadsri, 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

June 2020 — Neuropathology

A 25-month-old female presented with eye deviation and ataxia and was found to have a large mass filling the fourth ventricle. The tumor was resected, and histopathological analysis showed a solid and papillary pattern of growth with poor differentiation, high mitotic activity, and areas of necrosis (Figure 1). The tumor also showed diffuse CAM5.2 immunostain, focal synaptophysin positivity, lacked expression of glial markers GFAP and Olig2, and showed loss of INI-1 and largely of H3 K27me3 expression. Overall, the tumor resembled a choroid plexus carcinoma. Tumor purity was morphologically estimated as 70%. Molecular and cytogenetic analyses were performed at the Mayo Clinic Genomics Laboratory. Neuro-oncology NGS testing showed a SMARCB1 mutation involving a canonical splice site in 84% of all sequencing reads (c.986+2T>G) (Figure 2). Chromosomal microarray identified losses along chromosomes 11 (including genes NUP98, IGF2, H19, and CDKN1C), 22 (including genes SMARCB1, MN1, NF2, EWSR1, and CHEK2), and X (Figure 3).

Image 1A.
Image 1B.
Image 1C.
Histological features of the tumor. Images 1A-1C) The tumor presents a solid and papillary pattern of growth. It is composed of cells with high NC ratio, poorly differentiated either in sheets or lining the cores of the papillae, and high mitotic activity with areas of necrosis.
Image 2A. Molecular analysis of SMARCB1. The position of the mutation is shown in between blue lines, as well as the nucleotide substitution (G).
Image 2B. Molecular analysis of SMARCB1. Effect of the mutation on transcript splicing, notice how the canonical 5’ splicing sequence is disrupted in the mutated sequence compared to the reference (blue squares).
Image 3.

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Photo of Cinthya Jeanette Zepeda Mendoza, Ph.D. Cinthya Jeanette Zepeda Mendoza, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Kandelaria (Ande) Rumilla, M.D. Kandelaria (Ande) Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
Photo of Caterina Giannini, M.D., Ph.D. Caterina Giannini, M.D., Ph.D.
Consultant, Anatomic Pathology
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
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This post was developed by our Education and Technical Publications Team.