Philippos Apolinario Costa

PALB2 c.3106G>C (p.Val1036Leu) in a familial cancer setting suggesting potential pathogenicity

The case is a woman in her 60s with a heterozygous germline variant in PALB2 (c.3106G>C, p.Val1036Leu) who developed ovarian cancer. Tumour somatic analysis revealed a 24.7% loss of heterozygosity, commonly associated with homologous recombination deficiency. No other pathogenic DNA damage repair gene mutations were identified, although ATR amplification was observed. The proband has four siblings, all of whom tested positive for the PALB2 c.3106G>C variant. Both of her brothers were diagnosed with prostate cancer. One of her sisters was diagnosed with breast cancer at age 62, while the other sister has no cancer history. The patient’s two children have not been tested and have no reported history of cancer. Her father had prostate cancer at age 67 and died due to melanoma at age 75. No history of cancer was found on her mother’s side. Segregation analysis of the PALB2 c.3106G>C variant with multiple cancer diagnoses suggests a pathogenic role.

High-grade B-cell lymphoma with MYC and BCL6 rearrangements presenting as a cervical mass

Lymphoid malignancies represent 0. 008% of all cervical tumours. While uncommon, lymphoid malignancies of the gynaecological tract require careful diagnosis and classification to ensure appropriate treatment. We present a case of a 54-year-old woman with HIV who presented with urinary and faecal incontinence for 2 weeks, associated with the feeling of a mass in her vagina. A smooth flesh-coloured pelvic mass was seen on physical examination, and a transvaginal biopsy revealed infiltration of atypical lymphoid cells with fluorescence in situ hybridisation positive for MYC and BCL6, and negative for IGH/BCL2. Bone marrow and cerebral spinal fluid analysis also showed involvement by atypical lymphocytes. She was diagnosed with stage IV high-grade B-cells lymphoma (HGBLs) with MYC and BCL6 rearrangements. She was given R-CODOX-M plus IVAC with no evidence of disease at 4-month follow-up. To our knowledge, this is the first literature report of a HGBL with MYC and BCL6 rearrangement presenting as a cervical mass.