A 40-year-old man presented with headaches, nausea, and visual complaints. A large enhancing lesion in the right: Biomedical Science Case study UO, UK

• Case Study 1

A 40-year-old man presented with headaches, nausea, and visual complaints. A large enhancing lesion in the right frontal lobe was identified by magnetic resonance imaging (MRI) and the patient underwent debulking surgery. Histopathology and molecular genetic analysis of IDH1 and co-deletion of chromosomes 1p and 19 q status of the resected tissue revealed features consistent with the diagnosis of oligodendroglioma. The patient was treated with a combination therapy of radiation and chemotherapy for a period of 4-5 weeks.

• Case Study 2

A female patient was diagnosed with non-Hodgkins lymphoma at six years of age and at age 13 presented with rectal bleeding.  A colectomy was performed after a mass was identified by a colonoscopy. Her consanguineous parents (2nd-degree cousins) reported colorectal cancer in a paternal uncle, and he was diagnosed at the age of 43 years with synchronous adenocarcinomas in the sigmoid and descending colon.

Microsatellite Instability (MSI) analysis and immunohistochemical (IHC) analysis of MMR proteins show high MSI and loss of hMHS6 in non-malignant and malignant cells of the colonic mucosa. Sequence analysis of hMSH6 in the index patient displayed a homozygous single nucleotide deletion in exon 4 (c.691delG) leading to a frameshift and premature termination (p.Val231TyrfsX15).

• Case Study 3

A 30-year-old woman attended for routine cervical screening. Her sample was reported as mild squamous cell dyskaryosis. HPV testing was performed on the sample. As a result of the outcome of the HPV test, the woman was referred to colposcopy for further investigation. A large loop excision of the transformation zone was performed due to a suspicious area being identified on the cervix. The tissue was sent to histology for processing and reporting.

•  Case Study 4

A 4-year-old child was referred to a Consultant Nephrologist and following testing, the diagnosis was returned as inconclusive. It was thought possible that the child might be suffering either from Autosomal Dominant Polycystic Kidney Disease (ADPKD) or Autosomal Recessive Polycystic Kidney Disease (ARPKD), both of which are ciliopathies.