Jonathan McGuane^1,2
1ACT Pathology, Canberra Health Services; ²School of Medicine and Psychology, Australian National University

Total intestinal aganglionosis is a rare condition which comprises less than 1% of Hirschsprung’s disease cases. We present the case of an early term female neonate who developed clinical signs of gastrointestinal obstruction shortly after birth, and failed to pass meconium. Recurrent invasive ventilatory support was also required due to poor respiratory effort during sleep periods, and a diagnosis of congenital central hypoventilation syndrome (CCHS) was made. Rectal suction biopsies performed on D8 of life showed no ganglion cells, and laparoscopic examination of the bowel on D17 demonstrated a grossly dilated jejunum with microileum/microcolon. Biopsies from the jejunum were aganglionate. Further biopsies taken on D26 up to and including the stomach confirmed aganglionate intestinal tract to the stomach. Given the patient’s co-existent CCHS, she was deemed an unsuitable candidate for an intestinal transplant, and was palliated, passing away on D35. Post-mortem examination confirmed the clinical impression of microileum and microcolon. Microscopically, there was hypoganglionosis of the oesophagus, with total aganglionosis of the stomach, small and large bowel. The combination of CCHS and intestinal aganglionosis is known as Haddad syndrome, an extremely rare clinical entity. In this case, genetic analysis demonstrated de novo expansion of the PHOX2B gene, supporting the diagnosis.

 Hana Kawatu¹, Maya Latimer^2,3, Mitali Fadia^1,3

¹Department of Anatomical Pathology, ACT Pathology, Canberra Health Services, Garran, ACT, Australia
²Department of Haematology, Canberra Health Services, Garran, ACT, Australia
³School of Medicine and Psychology, Australian National University, Canberra, ACT, Australia

We present a case of a 28-year-old female who delivered a live baby at 38 weeks gestation with a primary diagnosis of high-grade B cell lymphoma on placenta. The placenta was heavy and showed multifocal, pale lesions ranging from 2 mm to 5 mm across. On histology, the villi were diffusely filled by the discohesive population of monomorphic medium-sized lymphoid cells with minimal spill into the intervillous space. There was a significant amount of apoptosis with a starry-sky appearance. The neoplastic cells showed diffuse and strong positive staining for CD20, CD79a, PAX5, Bcl2 and cMyc, but negative for CD10. The FISH performed on the paraffin block showed t(8:14) (MYC/IGH) dual fusion. 

 

The baby was born with multifocal skin lesions, which showed similar morphology and immunophenotype like placenta. Short tandem repeat profiling showed chimerism of the cancer cells of maternal origin rather than foetal origin. 

 

Five months post-delivery, the asymptomatic mother was investigated, which revealed a PET AVID gastric lesion diagnosed as lymphoma. Following chemotherapy, the patient has been in remission for 5 years. 

 

This case demonstrates a unique primary involvement of lymphoma in the placenta with subsequent foetal transmission. The story begins with a placenta, where its findings save the mother’s life. 

Joanne Y. To ¹ & Ali Moghimi ^{1, 2}

¹ Department of Histopathology, The Children’s Hospital at Westmead, Sydney, NSW, Australia ² Faculty of Medicine and Health, The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, NSW, Australia

Background: The global shortage of perinatal and paediatric pathologists has resulted in a workforce crisis, emphasizing the need for strategies to support and expand these critical subspecialties. Training exposure and trainees' perceptions likely influence workforce numbers.

Methods: An online survey was distributed to Royal College of Pathologists of Australasia trainees in Anatomical, Forensic, and General Pathology to assess their perception and attitudes toward perinatal/paediatric pathology. The survey included 18 questions on trainees’ prior exposure and 51 statements exploring perceptions and barriers, with an option for comments.

Results: The survey received 100 responses (86 Australian, 14 international). One-fourth were first-year trainees. A total of 58 trainees had completed rotations in these subspecialties. Nearly 41% had considered them as career options. Almost one-third reported insufficient educational resources. The most cited barriers to pursuing these fields included lack of teaching resources, limited exposure, and a general anatomical pathology exam-focused curriculum.

Conclusion: This survey was the first study of its kind assessing trainee’s perceptions of perinatal/paediatric pathology. Many expressed positive views and interest, highlighting the need for targeted interventions to enhance exposure, teaching resources, and curriculum alignment. These measures are essential to mitigate the growing workforce crisis and ensure the future sustainability of these vital subspecialties.

Mehr Gupta¹, Benjamin Brennan², Amrit Dhanushkoti², Andrew Barker², Adriana E Huelmo², Carl Fayad², Nasser Otutaha², Francis Asence², Carol Wang^2,4, Craig Pennell^2,3,4, Victoria Yachmenikova¹

¹NSW Health Pathology, John Hunter Hospital, Newcastle, Australia; ²School of Medicine and Public Health, College of Health, Medicine and Wellbeing, The University of Newcastle, Newcastle, Australia; ³Department of Maternity and Gynaecology, John Hunter Hospital, Newcastle, Australia; ⁴Mothers and Babies Research Program, Hunter Medical Research Institute, Newcastle, Australia.

 

Background: Mid-trimester pregnancy loss occurs in 0.4-3% of pregnancies. It is poorly understood, with 51% classified as idiopathic. Future pregnancies may be complicated by recurrent mid-trimester loss or preterm birth, and the aetiology/phenotype of the index loss may be predictive of the outcome. This study aims to further characterise the phenotypes of mid-trimester losses and their relationship to future pregnancies by analysing their placental findings. 

Methods: A retrospective cohort study was performed to identify women with mid-trimester losses between 1 January 2013 and 31 December 2023 at John Hunter Hospital.  Mid-trimester was defined as between 14 weeks and 23 weeks and 6 days. Histological reports of each placenta were reviewed and results aggregated. 

Results: A total of 39,331 births were identified, of which 223 (0.59%) resulted in mid-trimester loss in 221 women. The recurrence rate of mid-trimester pregnancy loss was 5.6%, and the rate of subsequent preterm birth was 18.3%. Overall placental findings included acute chorioamnionitis, placental abruption, fetal vascular malperfusion (FVM), maternal vascular malperfusion (MVM), villitis and intervillositis. Placental findings of the index case in those with recurrent losses included chorioamnionitis and villitis. Placental findings of the index case in those with subsequent preterm birth included chorioamnionitis, abruption, FVM, MVM and villitis. 

RCPAQAP: 2024 Paediatric Diagnostic Program performance and discussion of the 6 perinatal cases

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