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Abstract Background While anaemia following liver transplant is common, anaemia in the context of BK viraemia is not a commonly recognised phenomenon. Case presentation We present the case of 59-year old gentleman with severe anaemia in the context of BK viraemia and nephropathy following ABO incompatible liver transplant. Severity of anaemia appeared to correlate with high titres of BK virus in the serum. Bone marrow biopsy revealed hypocellular marrow with normal cytogenetics. Anaemia improved with treatment with cidofovir, intravenous immunoglobulin, reduction in immunosuppression and erythropoietin stimulating agent. Conclusion To our knowledge, this is the first case of anaemia post liver transplant contributed to by BK viraemia.

Background: Somatic pathogenic variants (PVs) in homologous recombination DNA repair (HR)-related genes found in high-grade serous ovarian carcinomas (HGSC) are not well-characterised in older patients (≥70 years). This may reflect low testing rates in older patients. Methods: Data from 1210 HGSC patients in AACR Project GENIE and 324 patients in an independent dataset INOVATe were analysed. Cases where somatic variants could be distinguished from germline variants were included, and analysis was restricted to those with a somatic TP53 variant, to ensure cases were HGSC. Results: Of 1210 patients in GENIE, 27% (n = 325) were aged ≥70 years at testing. Patients with somatic-only PVs in BRCA2 were older compared with BRCA1 (median 71 vs 60 years, p = 0.002). Median age for 21 patients with somatic-only PVs in 11 other HR-related genes ranged from 40 to 67 years. In older patients, 7% (n = 22) had somatic BRCA1/2 PVs, and 1% (n = 2) had PVs other HR-related genes; this rate was not significantly different to younger patients (

Abstract Background Acute and chronic kidney diseases are important comorbidities in People Living With HIV (PLWH). Biopsy is often pursued in this cohort with ongoing renal impairment without a clear aetiology, in order to establish the diagnosis and to guide management. Despite the importance of renal disease in PLWH, there is a paucity of biopsy data—especially in the Australian setting. Consequently, who and when to biopsy is mainly based on clinical experience. The aims of this study were to describe biopsy-proven renal disease in PLWH at our institution and to assess for correlation between any demographic or laboratory characteristics with histological diagnosis. Methods A retrospective review of all PLWH who underwent renal biopsy between January 2010 and December 2020 at Royal Prince Alfred Hospital, Sydney, Australia was performed. All PLWH over 18 years, who were not transplant recipients were included. Demographic, laboratory and biopsy data was extracted from the electronic medical records. Basic descriptive statistics were performed, and correlation was assessed using chi square and Kendall’s coefficient of rank test. Results 19 renal biopsies were included in the study. The majority of PLWH were Australian born (53%), male (84%) and had a mean age of 48 years (SD 13). Comorbid hypertension and diabetes were present in 74% and 21% of people respectively. The mean serum creatinine was 132 µmol/L (SD 55) and the mean estimated glomerular filtration rate (eGFR) was 61 ml/min/1.73m2 (SD 24). The most common histological diagnosis was tubulointerstial nephritis in 5 people (24%). Hypertensive glomerulosclerosis and IgA nephropathy were present in 4 (19%) and 3 (14%) people respectively. There were no cases of HIV-associated nephropathy. There was no significant correlation between any cohort characteristics and diagnoses. Conclusions This study represents the first description of biopsy-proven kidney disease in the HIV-infected population of Australia. Our results support the use of renal biopsy in PLWH with ongoing renal impairment for accurate diagnosis and to guide further management. Although a small sample size, our study is larger than other published international biopsy studies.

Abstract Endometrial carcinoma is the most common gynaecological cancer in developed countries. Most cases are low-volume/low-grade tumour at presentation; however, high-grade subtypes may present with locally advanced disease with higher propensity for spread outside of the pelvis. MRI has a role in local staging of the tumour and helping the clinicians in treatment decision making. This pictorial essay gives examples of endometrial carcinoma at different stages with histological correlation. It also explores the potential limitations and pitfalls of imaging in this context.

Endometrial endometrioid type cancer is a common gynaecological cancer for which the standard surgical management includes hysterectomy and bilateral salpingo-oophorectomy. The value of oophorectomy is to remove occult ovarian disease. It is estimated that 5 % of low grade endometrioid adenocarcinoma will have concurrent ovarian involvement (3 % synchronous tumours, 2 % ovarian metastases), of which only 1 % will be microscopic. Ovarian preservation at the time of surgery can be considered, especially in early-stage disease or premenopausal women. We describe a case of metastatic ovarian disease following surgical management of grade 1 endometrial endometrioid adenocarcinoma confined to the endometrium (FIGO stage 1a), in a postmenopausal woman who declined primary oophorectomy. This case was without genetic predisposition and recurred 12 months after initial surgical treatment. This case is incongruent with what has previously been understood for FIGO stage 1a endometrial endometrioid adenocarcinoma and highlights that even disease seemingly confined to the endometrium can metastasise microscopically to the ovaries.

Abstract Background Strongyloidiasis is caused by the helminth Strongyloides stercoralis and is well-recognised amongst transplant recipients. Serious complications, including Strongyloides hyperinfection which is a syndrome of accelerated autoinfection, or disseminated disease, can occur post-transplantation, resulting in significant morbidity and mortality. Here we present the first published case we are aware of, describing post-transplant Strongyloides hyperinfection in an HIV-positive kidney transplant patient. We discuss the diagnostic challenges and the role of pre-transplant screening. Case presentation A 58-year-old African-American male, originally from the Caribbean, received a deceased donor kidney transplant for presumed focal segmental glomerulosclerosis. He was known to be HIV-positive, with a stable CD4 count, and an undetectable viral load. Five months post-transplant, he developed gastrointestinal symptoms and weight loss. He had a normal eosinophil count (0.1–0.2 × 109/L), negative serum cytomegalovirus DNA, and negative blood and stool cultures. His Strongyloides serology remained negative throughout. A diagnosis of Strongyloides hyperinfection was made by the histological examination of his duodenum and lung, which identified the parasites. He completed his course of treatment with Ivermectin but exhibited profound deconditioning and required a period of total parenteral nutrition. He was subsequently discharged after a prolonged hospital admission of 54 days. Conclusions This case highlights the challenges in diagnosing Strongyloides infection and the need to maintain a high index of clinical suspicion. Non-invasive techniques for the diagnosis of Strongyloides may be insufficient. Routine pre-transplant serological strongyloidiasis screening is now performed at our centre.

Abstract Background Basal-like breast cancer (BLBC) is a poorly characterised, heterogeneous disease. Patients are diagnosed with aggressive, high-grade tumours and often relapse with chemotherapy resistance. Detailed understanding of the molecular underpinnings of this disease is essential to the development of personalised therapeutic strategies. Inhibitor of differentiation 4 (ID4) is a helix-loop-helix transcriptional regulator required for mammary gland development. ID4 is overexpressed in a subset of BLBC patients, associating with a stem-like poor prognosis phenotype, and is necessary for the growth of cell line models of BLBC through unknown mechanisms. Methods Here, we have defined unique molecular insights into the function of ID4 in BLBC and the related disease high-grade serous ovarian cancer (HGSOC), by combining RIME proteomic analysis, ChIP-seq mapping of genomic binding sites and RNA-seq. Results These studies reveal novel interactions with DNA damage response proteins, in particular, mediator of DNA damage checkpoint protein 1 (MDC1). Through MDC1, ID4 interacts with other DNA repair proteins (γH2AX and BRCA1) at fragile chromatin sites. ID4 does not affect transcription at these sites, instead binding to chromatin following DNA damage. Analysis of clinical samples demonstrates that ID4 is amplified and overexpressed at a higher frequency in BRCA1-mutant BLBC compared with sporadic BLBC, providing genetic evidence for an interaction between ID4 and DNA damage repair deficiency. Conclusions These data link the interactions of ID4 with MDC1 to DNA damage repair in the aetiology of BLBC and HGSOC.

Endometriosis in adolescents is often underrecognized and is a contributing factor to significant delays in its diagnosis and management. Extraovarian endometrioma is uncommon, especially in the adolescent age range. We report on a rare case of a large extraovarian endometrioma involving the terminal ileum in an adolescent who presented with abdominal pain and a pelvic mass and its subsequent surgical management. It emphasizes the importance of having a broad differential diagnosis and considers endometriosis in any adolescent with pelvic pain and mass, especially in an atypical context. Increased awareness, education, and research on endometriosis in this young population are essential in order to overcome existing challenges in the early diagnosis and optimal management of this chronic gynaecological condition and avoid morbidity associated with advanced disease.

Background: Absolute Uterine Factor infertility (AUFI) can be congenital such as Mayer-Rokitansky Küster syndrome (MRKH), or acquired resulting from conditions rendering the uterus non-functional or hysterectomy. Prior to the year 2014, women with AUFI had limited opportunities to have a child with the options being either surrogacy or adoption. In 2014 the first successful uterus transplant (UT) was achieved in Sweden. RPA was the first site in Australia to receive ethical approval for a UT trial. Objectives: To determine if UT is an effective, safe, and operationally viable option for women with AUFI in order to achieve live birth. Methodology: Potential donor/recipient pairs will undertake a comprehensive screening process to assess suitability. The process will then involve: 1.Creation of embryos via IVF; 2.Donor Hysterectomy and Recipient Transplant; 3.Recovery with immunosuppression; 4.Embryo transfer; 5.Pregnancy care and delivery; 6.Post-delivery, potential second pregnancy, and explant with follow-up. Conclusion: UT is a novel and promising procedure for women with AUFI to achieve parenthood. The process involves a comprehensive workup to assess suitability. A multidisciplinary team within a tertiary centre is essential for establishing a successful UT program. Due to the infancy of UT all centres need to be diligent in reporting clinical outcomes to establish the feasibility of UT as a future treatment option for AUFI.

Background: Absolute Uterine Factor infertility (AUFI) can be congenital such as Mayer-Rokitansky Küster syndrome (MRKH), or acquired resulting from conditions rendering the uterus non-functional or following a hysterectomy. In 2014 the first successful uterus transplant (UT) was achieved in Sweden. This sparked widespread interest, and many countries have established UT trials. In 2019 Royal Prince Alfred hospital was the first site in Australia to receive ethical approval for a UT protocol. As part of this trial research outcomes will be collected. Aim: • To determine if UT is an effective, safe, and operationally viable option for women with AUFI in order to achieve live birth. • To collect research outcomes which will contribute to an international bio-bank for future research opportunities. Method: Approved donor/recipient pairs will be invited to participate in the research components of the trial. This will involve completing various questionnaires to assess clinical outcomes before and after the procedure, as well as providing additional blood and cervical tissue samples which will be stored for future research projects. Conclusion: UT is a relatively new procedure, with significant scope for basic research opportunities. Due to the infancy of UT it is pivotal that all centers are diligent in collecting research outcomes and contributing to an international data registry to aid in proving the necessity of UT as a clinical treatment for woman with AUFI.

Glomus tumor is an uncommon, benign, soft-tissue lesion in which the cells recapitulate the structure of the normal modified smooth muscle cells of the glomus body. Glomus tumors usually occur in tissues that normally contain glomus bodies; only rarely can they develop in sites where glomus bodies are normally sparse or absent. There are three subtypes of glomus tumor, with glomangiomyoma being the rarest. No more than 10 cases of glomus tumor in female genitalia have previously been reported, involving the vulva, vaginal area, periurethral area and clitoris. A clitoral glomangiomyoma is extremely rare. This is a case report of a glomangiomyoma in the clitoral area. Published reports of glomus tumor in the female external genitalia are reviewed.

We report a unique case of a 60-year-old woman developing endometrial cancer in a uterine deposit 18 years after she had undergone laparoscopic subtotal hysterectomy with morcellation for benign pathology. She had used unopposed estrogen as menopausal hormone therapy. She presented with a pelvic mass that was causing pressure symptoms. On imaging, the mass had an enhancing vascular nodular component and appeared to abut normal ovaries and the residual cervix. She proceeded to laparotomy, where a 12 cm pelvic mass was found morbidly adherent to the bladder anteriorly and to the cervical stump. The pelvic mass was excised, and trachelectomy and bilateral salpingo-oophorectomy were performed. Adjacent to this mass was a separate, 5 cm adnexal mass, which was also excised. Histopathology of the smaller pelvic mass was consistent with endometrial adenocarcinoma grade 1, arising in complex endometrial hyperplasia with atypia surrounded by myometrium consistent with a uterine implant. This case highlights the need for consideration and discussion of possible risks of subtotal hysterectomy and morcellation of the uterus for benign disease. Furthermore, given the results in this patient, the use of unopposed estrogen in such patients is discouraged due to possible effects on any residual endometrium still present. Keywords: Endometrial cancer, Morcellation, Menopausal hormone therapy, Case report

Endometrial polyps are overgrowths of endometrial glands that typically protrude into the uterine cavity. Endometrial polyps are benign in nature and affect both reproductive age and postmenopausal women. Although endometrial polyps are relatively common and may be accompanied by abnormally heavy bleeding at menstruation. In asymptomatic women, endometrial polyps may regress spontaneously, in symptomatic women endometrial polyps can be treated safely and efficiently with hysteroscopic excision.

Objective: Endometrial polyps are localised growths of endometrial tissue containing glands, stroma and blood vessels, covered with epithelium. The reported prevalence of endometrial polyps is dependent upon the population being studied and the uterine imaging technique utilised. The light microscopy literature provides very little information regarding their microvasculature and lymphatic systems; however, a plethora of ultrasound data demonstrating single central arteries in most medium- or large-sized endometrial polyps are well documented. Methods: Archived formalin-fixed paraffin-embedded blocks of endometrial curettings were retrieved from files for women with confirmed endometrial polyps ( n = 20) and women with normal endometrium (control endometrium; n = 32). Immunohistochemistry was performed with the antibodies CD31 (blood vessels) and D2-40 (lymphatics). Blood vessels and lymphatics were quantified in endometrial polyps and adjacent, distant and control endometrium. Results: CD31 and D2-40 staining was present in all specimens, although there were no significant differences in blood vessel ( F (3,70) = 2.36, p = 0.079) and lymphatic ( F (3,70) = 0.16, p = 0.920) densities between endometrial polyps as well as adjacent, distant and control endometrium. There were also no significant differences in women with endometrial polyp-associated bleeding and those with no bleeding. In relation to infertility, there were no significant differences found in blood and lymphatic densities between women with endometrial polyps who were infertile and those with endometrial polyps who were fertile. Conclusion: Small blood vessel wall and perivascular structures rather than the distribution of vessels may be associated with abnormal bleeding.