Pediatric gastrointestinal epithelial tumors
2024-09-16 Paola Dal Cin, PhD , Rita Alaggio, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.IRCCS Ospedale Bambino Gesú, Roma (Italy)
Keywords
pediatric gastrointestinal tumors,pediatric digestive tumorsClassification
Definition
Gastroblastoma is an extremely rare stomach tumor that primarily presents in adolescent and early adulthood, with a biphasic cell morphology of epithelioid and spindle cells. 1 Little we know about genetic markers. Appendiceal neuroendocrine neoplasms (aNEN) rare neoplasms in the pediatric population, mainly diagnosed after appendectomy and do not behave aggressively. 2
| Pediatric gastrointestinal epithelial tumors | Genetic marker(s) |
|---|---|
| Gastroblastoma | Genetic informations have been so far reported in only three 19-year old adolescents: MALAT1::GLI1 fusion, 1 ACTB::GLI1 fusion, 3 and without either GLI1 or EWSR1 rearrangements by FISH analysis. 4 |
| Appendiceal neuroendocrine tumors (aNET) | They are very rare, typically incidental and occuring mainly adolescents, with a female predominance in the tip of the appendix. They have have an excellent prognosis, and appendectomy alone is an adequate treatment in children irrespective of size, position, lymph node, or mesenteric involvement. 5 No specific genetic markers so far reported. |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 28731043 | 2017 | Gastroblastoma harbors a recurrent somatic MALAT1-GLI1 fusion gene. | Graham RP et al |
| 2 | 34664383 | 2022 | Paediatric appendiceal neuroendocrine tumours: a review of 33 cases from a single center. | Yalçın B et al |
| 3 | 38260988 | 2024 | Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male. | Shabbir J et al |
| 4 | 37658451 | 2023 | Gastroblastoma without GLI1 and EWSR1 gene breaks. | Gong C et al |
| 5 | 38136101 | 2023 | Incidence and Management of Appendiceal Neuroendocrine Tumors in Pediatric Population: A Bicentric Experience with 6285 Appendectomies. | Pogorelić Z et al |
Citation
Paola Dal Cin, PhD ; Rita Alaggio, MD
Pediatric gastrointestinal epithelial tumors
Atlas Genet Cytogenet Oncol Haematol. 2024-09-16
Online version: http://atlasgeneticsoncology.org/solid-tumor/209264/pediatric-gastrointestinal-epithelial-tumors
