BSPED2021 Poster Presentations Gonadal, DSD and Reproduction (6 abstracts)
Neuroblastoma with concurrent X chromosome monosomy, a coincidence or an association?
Elizabeth S. Baranowski 1,2 , Eleanor Harding 1 , Susanne A. Gatz 1,3 , Liam McCarthy 1 , Harish Chandran 1 , Caroline Godber 1 , Louise Denvir 4 , Jenny Turnbull 4 , Jan Idkowiak 1,2 , Tabitha Randell 4 & Zainaba Mohamed 1
1Birmingham Children’s Hospital, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom; 2Institute of Metabolism and Systems Research, University of Birmingham College of Medical and Dental Sciences, Birmingham, United Kingdom; 3Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom; 4Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom
Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Previous literature suggests that X-chromosome monosomy confers an increased risk of solid tumour formation and could be associated with neural crest derived tumours.
Case Descriptions: Case 1 presented at 10 days of age with genital ambiguity. There was penoscrotal hypospadias and bilateral undescended testes with left gonad palpable in the groin (EMS score 4). Early ultrasound suggested no internal Mullerian structures, hCG test showed a good testosterone response and Karyotype (5/30) 45XO/46,XY (25/30). He was assigned male sex of rearing. He later presented with an incarcerated inguinal hernia at 6 months of age. At hernia repair, internal Mullerian structures were noted and left gonad had ovarian appearance. MRI for further DSD assessment revealed a left supra-renal mass which was histologically identified as a localised differentiating neuroblastoma and staging stratified as intermediate risk. The neuroblastoma was incompletely excised by laparoscopic excision biopsy, and he commenced treatment with chemotherapy. Case 2 presented at 3 years. An abdominal ultrasound carried out for spasmodic abdominal pain with associated autonomic symptoms showed an adrenal/paraspinal mass. Undifferentiated neuroblastoma was histologically confirmed, staging stratified as intermediate/high risk. She received treatment with chemotherapy, surgery, radiotherapy and immunotherapy. She was noted to have short stature on initial presentation with height SDS -2.76. Her expected target height is between 25th- 50th percentile. Workup for the neuroblastoma revealed a horseshoe kidney and a small PDA. Cytogenetic analysis later confirmed a diagnosis of TS (45,XO).
Discussion: Our cases add to support previous literature highlighting a possible link between X-chromosome monosomy and neuroblastoma. Clinicians should have a high index of suspicion to aid early identification and treatment outcome. Further research is required to better quantify this association.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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