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Intraabdominal lymphatic malformations: Are they all PIK3CA positive? A novel genetic hypothesis
Verbal Presentation

Verbal Presentation

4:45 pm

01 May 2026

Meeting Room M3

RESEARCH PAPERS

Talk Description

Institution: Queensland Children’s Hospital - Queensland , Australia

Introduction: Intraabdominal lymphatic malformations/lymphangiomas are a relatively rare cause of gut volvulus and subsequent bowel obstruction in the paediatric population. These patients inevitably proceed to theatre for resection of the lesion commonly with bowel resection and anastomosis. A subsequent population of children will have intraabdominal lymphatic malformations identified either antenatally, incidentally, or to investigate symptomatology and have non-operative intervention including sclerotherapy, whereby we can obtain an aspirate of the lesion. In a retrospective case series over the past 4 years since our centre has pursued extended genetic testing for lymphatic malformations, we hypothesise that PIK3CA is the gene responsible for encoding these lesions, which to our knowledge will be a novel publication for the genetic basis of intraabdominal lymphatic malformations. This data will hopefully inform genetic targets for alternate (and non-invasive) treatment methods in the future. Methods: This is a case series of at least 16 patients whose histology or cell-free DNA from aspiration was either sent upfront for genetic testing or retrospectively sent for genetic testing and PIK3CA status. 15 patients returned a positive PIK3CA gene result, with one being negative (which reflects genetic testing results for cutaneous lymphatic malformations, widely accepted to be PIK3CA-associated lesions, due to the nature of cell-free DNA genetic testing allowing for more false negatives). Conclusion: We hypothesise that all intraabdominal lymphatic malformations are PIK3CA positive, in-keeping with the nature of overgrowth. This publication will, to our knowledge, represent the first genetic association in such lesions and this potential therapeutic target will therefore broaden treatment options to include non-invasive/medical options.
Speakers
Contributors
Authors

Dr Carly Perry - , Dr Eamon Clanchy - , Professor Roy Kimble - , Dr Chris Richmond -

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