From the Guidelines
Gastroblastoma typically presents with nonspecific gastrointestinal symptoms including abdominal pain, nausea, vomiting, weight loss, and occasionally gastrointestinal bleeding, similar to GISTs which present with upper gastrointestinal bleeding and anaemia, whilst larger tumours may present with abdominal pain/discomfort and a palpable mass 1. The clinical presentations of gastroblastoma are not well-defined in the provided evidence, but based on the information available on GISTs, it can be inferred that gastroblastoma may present with similar symptoms.
- The symptoms of GISTs include upper gastrointestinal bleeding and anaemia, whilst larger tumours may present with abdominal pain/discomfort and a palpable mass 1.
- Small bowel GISTs may remain silent for a long period before presenting with an acute event such as haemorrhage or rupture 1.
- Symptomatic rectal GISTs may present with pain, obstruction and bleeding; oesophageal and gastro-oesophageal junction GISTs with dysphagia 1.
- Some patients may have non-specific systemic symptoms e.g. weight loss, night sweats and fever 1.
- Lack of awareness of the presenting features may lead to delayed diagnosis of GIST in some patients 1. It is essential to note that gastroblastoma is a rare biphasic tumor that most commonly affects children and young adults, and its symptoms may develop gradually over weeks to months, leading to delayed diagnosis 2.
- Patients may experience early satiety or a palpable abdominal mass depending on the tumor size and location, which is most frequently in the stomach but can occur elsewhere in the gastrointestinal tract.
- Laboratory findings are usually nonspecific but may include anemia if bleeding has occurred.
- Diagnosis requires histopathological examination showing the characteristic biphasic pattern of epithelial and mesenchymal components, often confirmed by immunohistochemistry and molecular testing for MALAT1-GLI1 gene fusion. Due to its rarity, gastroblastoma is frequently misdiagnosed initially, highlighting the importance of thorough evaluation of persistent gastrointestinal symptoms in young patients. Therefore, a thorough evaluation of persistent gastrointestinal symptoms in young patients is crucial for early diagnosis and treatment of gastroblastoma, and clinicians should be aware of the potential for delayed diagnosis due to non-specific symptoms and lack of awareness of the presenting features 1, 2.
From the Research
Clinical Presentations of Gastroblastoma
The clinical presentations of gastroblastoma are varied and non-specific, making diagnosis challenging. Some common symptoms include:
- Upper abdominal pain, as reported in a 5-year-old girl with gastroblastoma 3
- Melena, which was the chief complaint of a 51-year-old female patient with gastroblastoma 4 and also presented in a 5-year-old girl with gastroblastoma 3
- Epigastric pain, as experienced by a 29-year-old female patient with gastroblastoma 5
- Poor general condition, observed in a 29-year-old female patient with gastroblastoma 5
- Asymptomatic cases, such as a 58-year-old man who was diagnosed with gastroblastoma during a gastroscope 6
Diagnostic Findings
Diagnostic findings for gastroblastoma may include:
- Imaging results, such as abdominal contrast-enhanced CT showing gastric antral nodules 4 or abdominal ultrasonography and enhanced computed tomography confirming a mass 3
- Endoscopic examination, which may show a protuberant submucosal mass on the greater curvature of the gastric body 3 or a polypoid mass in the stomach near the gastric cardia 5
- Histopathological examination, which is essential for the diagnosis of gastroblastoma and typically reveals a biphasic cell morphology of epithelioid and spindle cells 4, 3, 5, 6, 7
Tumor Characteristics
Gastroblastoma tends to:
- Occur in the gastric antrum, as reported in several cases 4, 3, 7
- Have a low malignant potential and a low rate of recurrence and metastasis, although some cases may develop loco-regional recurrence 3, 5
- Pursue a favorable clinical outcome, with most patients alive and disease-free after surgical treatment 4, 3, 6, 7