Prenatal diagnosis of an infantile fibrosarcoma causing gastroesophageal obstruction requiring total gastrectomy
Infantile fibrosarcoma (IFS) is a rare neoplasm with variable presentations. We report a case of a prenatally-diagnosed tumor, ultimately identified to be an IFS, involving the distal esophagus, proximal stomach, diaphragm, and pancreas. The large tumor obstructed the gastroesophageal junction, lead...
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| Main Authors: | , , , |
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| Format: | Book |
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Elsevier,
2022-11-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Infantile fibrosarcoma (IFS) is a rare neoplasm with variable presentations. We report a case of a prenatally-diagnosed tumor, ultimately identified to be an IFS, involving the distal esophagus, proximal stomach, diaphragm, and pancreas. The large tumor obstructed the gastroesophageal junction, leading to polyhydramnios and a precipitous delivery. Postnatal biopsy revealed malignant spindle cells consistent with IFS, which expressed an EGFR internal tandem duplication involving exons 18-25 (EGFR-KDD). Neoadjuvant treatment with vincristine/actinomycin lead to a good anatomic response and subsequent gross total resection. To our knowledge, this is the first reported case of IFS involving the upper gastrointestinal tract containing this mutation. |
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| Item Description: | 2213-5766 10.1016/j.epsc.2022.102465 |