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June 2018 — Hematopathology

A 49-year-old male with prior history of severe progressive peripheral neuropathies in his extremities was diagnosed at an outside institution with chronic inflammatory demyelinating polyneuropathy. Treatments with steroids, intravenous immunoglobulins, immunosuppressants, and plasma exchange had been ineffective. The patient also underwent trial autologous bone marrow transplantation, but his neuropathies continued to worsen. In addition to splenomegaly, he developed several endocrinopathies. An alternative diagnosis of POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monocloncal plasmaproliferative disorder, and skin changes) was considered. The patient presented to Mayo Clinic for further management. Subsequent investigations supported the POEMS diagnosis.

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Abdulrahman Saadalla, M.B., B.Ch.
Resident, Clinical Pathology
Mayo Clinic
Phuong Nguyen, M.D
Consultant, Hematopathology
Mayo Clinic
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

June 2018 — Molecular Diagnostics 1

A 33-year-old man presented with a history of infertility. A blood sample was submitted to the laboratory for molecular analysis of Y chromosome microdeletions. Analysis of Y chromosome markers by polymerase chain reaction (PCR) (Fig. 1) produced the results seen in Fig. 2 for the AZFa, AZFb, and AZFc regions. Subsequent chromosome analysis was performed, and a representative karyogram is shown in Fig. 3.

Figure 1. Overview of Y chromosome markers assessed in the microdeletion test. Pool 1 is composed of markers SY254, SY86 and SY127 (green boxes). Pool 2 is composed of markers SY84, SY134 and SY255 (blue boxes).
Figure 2.A) PCR reaction with Pool 1 markers. B.) PCR reaction with Pool 2 markers. Corresponding AZF regions are pointed out by arrows. Hemoglobin subunit gamma 2 (HGB2) was used as the housekeeping control gene. Analyzed samples in this run include 10 individuals, marked P1-P10. The case referred to in this discussion corresponds to P6*. Normal control corresponds to the sample of a normal fertile man. Positive control corresponds to a DNA sample of a normal female. Negative control corresponds to a no-template reaction. Ladder used is pGem® from Promega.

 

Figure 2B
Figure 3. Representative karyogram of P6*. ISCN nomenclature is omitted from this picture to allow trainees to practice identification of chromosome rearrangements. See the answers section to find out the identified chromosome abnormalities. A zoomed-in picture of the Y chromosome is shown to facilitate structure analysis.

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Cinthya Zepeda Mendoza, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Kandelaria Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

June 2018 — Gastrointestinal

A 13-year-old previously healthy female presented to her pediatrician with progressive dizziness, pallor, exercise intolerance, fatigue, and pica. Nine months later, she was diagnosed with microcytic anemia. As part of the workup, she underwent a stool hemoccult test, which was positive, necessitating an esophagogastroduodenoscopy (EGD) and colonoscopy to explore the etiology of the anemia. EGD and colonoscopy were grossly unremarkable. Gastric, small-bowel, and colon biopsies revealed slightly increased eosinophils in the gastric mucosa. Fourteen months later, repeat EGD demonstrated nodularity in the gastric body. A photomicrograph of the gastric body is shown.

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  Benjamin Van Treeck, M.D.
Resident, Anatomic and Clinical Pathology
Mayo Clinic
  Michael Torbenson, M.D.
Consultant, Anatomic Pathology
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

June 2018 — Molecular Diagnostics 2

A 32-year-old female presented to OB/GYN at 18 weeks gestation. Mutliple ultrasound anomalies were detected, including postaxial polydactyly, choroid plexus cysts, and omphalocele. Non-invasive prenatal screening (NIPS) via cell-free DNA sequencing was ordered to screen for the presence of common trisomies (13, 18, 21). NIPS revealed a borderline positive result for chromosome 18 (segmentation plot shown below). A prenatal chromosomal microarray was ordered to confirm the screening result, and the results for chromosome 18 are shown:

1. Segmentation plot of chromosome 18. The purple dashed line indicates copy number in a normal sample, the green dashed line is the average copy state for the entire chromosome in this sample, and the red line represents the copy state for binned regions along the chromosome (with the black dots representing individual bins).
2. Chromosomal Microarray plot showing chromosome 18: Copy number segment call in blue, Weighted Log2 Ratio of individual probes, and Smooth Signal indicating copy state along the chromosome.

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Ross Rowsey, Ph.D.
Fellow, Clinical Molecular Genetics
Mayo Clinic
Hutton Kearney, Ph.D
Consultant, Laboratory Medicine and Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
Erika Fetterman

Erika Fetterman

Erika Fetterman, Editorial Assistant at Mayo Medical Laboratories, supports internal and client-facing communications.