Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a de nite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the de nite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.
Background
Primary pancreatic squamous cell carcinoma (SCC) is a rare type of pancreatic cancer, with an incidence of 5% of all pancreatic cancers. This condition is associated with a poor prognosis, and no optimal treatment has been established (Zhang et al. in Medicine (Baltim). 97:e12253, 2018).
Case presentation
A 56-year-old man presented to our hospital with upper gastrointestinal bleeding and new-onset diabetes mellitus. He had no other medical comorbidities, episodes of pancreatitis and symptoms secondary to pancreatic insufficiency. A computed tomography (CT) scan showed a 94 × 72 × 83 mm necrotic pancreatic body mass with gastric invasion and multiple liver metastases. Gastroscopy revealed deep ulcerations at the posterior wall of the stomach with an active slow ooze. Endoscopic ultrasound was performed with EUS guided biopsy, which confirmed poorly differentiated squamous carcinoma of the pancreas. The patient underwent palliative radiotherapy for recurrent upper gastrointestinal bleeding followed by palliative chemotherapy with gemcitabine and nab-paclitaxel. He was referred to dietitians and diabetes educators for the management of pancreatic exocrine and endocrine insufficiency before being referred to community palliative care upon discharge.
Conclusions
This is the first reported Australian case of pancreatic SCC presenting with upper gastrointestinal bleeding and new-onset diabetes mellitus. Patients with unresectable disease require a multidisciplinary approach to manage complications and improve symptom control. However, there are no standard treatment guidelines and future research is needed in this regard.
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