Gastroblastoma
| Gastroblastoma | |
|---|---|
| Specialty | Gastroenterology/oncology |
Gastroblastoma is a rare cancer that occurs in the stomach.[1][2] Only six cases have been reported to date (2017)[citation needed].
A single case of a similar lesion has been reported in the duodenum.[3] The term "duodenoblastoma" has been suggested for this lesion.
Signs and symptoms
[edit]These are non specific and include upper abdominal pain and fullness. Examination may reveal a mass.
The lesion may be investigated further by ultrasound, CT or MRI but diagnosis depends on endoscopic biopsy.[4]
This lesion appears to have an indolent course but metastases have been reported in one case to date.[5]
Genetics
[edit]In four cases described a mutation - a fusion between the MALAT1 and GLI1 genes - has been described.[6] This fusion causes over expression of the GLI1 protein and activation of the Sonic hedgehog pathway.
Disganosis
[edit]Histology
[edit]The tumour is biphasic and contains spindle and epithelial cells. The spindle cells form diffuse sheets. The epithelial cells occur in clusters which may form glandular structures.
Immunochemistry
[edit]The epithelial component is positive for keratin (keratin AE1/AE3, keratin 18, keratin 7) c-KIT and CD56.
The mesenchymal component is positive for CD10 and vimentin.
Electron microscopy
[edit]Desmosomes and microvilli are present.
Differential diagnosis
[edit]The histological differential diagnosis includes
Other rare stomach tumours
[edit]Several other rare tumours that may need to be considered in the differential diagnosis include
- Multiple minute gastrointestinal stromal tumor
- Interstitial cell of Cajal hyperplasia
- Nerve sheath tumors (schwannoma and perineurioma)
- Granular cell tumor
- Glomus tumor
- Plexiform angiomyxoid myofibroblastic tumor
- Primary clear cell sarcoma
History
[edit]This tumour was first described in 2009.[1] The authors described this lesion in two males and one female - ages 19, 27 and 30 years. Since its original description several further cases have been described.[7][8]
References
[edit]- ^ a b Miettinen M, Dow N, Lasota J, Sobin LH (2009) A distinctive novel epitheliomesenchymal biphasic tumor of the stomach in young adults ("gastroblastoma"): a series of 3 cases. Am J Surg Pathol 33(9):1370-1377
- ^ Wei J, Xu C, Tai Y (2016) Clinicopathologic features of gastroblastoma. Zhonghua Bing Li Xue Za Zhi 45(1):66-68
- ^ Poizat F, de Chaisemartin C, Bories E, Delpero JR, Xerri L, Flejou JF, Monges G (2012) A distinctive epitheliomesenchymal biphasic tumor in the duodenum: the first case of duodenoblastoma? Virchows Arch 461(4):379-383
- ^ Fernandes T, Silva R, Devesa V, Lopes JM, Carneiro F, Viamonte B (2014) AIRP best cases in radiologic-pathologic correlation: gastroblastoma: a rare biphasic gastric tumor. Radiographics 34(7):1929-1933
- ^ Wey EA, Britton AJ, Sferra JJ, Kasunic T, Pepe LR, Appelman HD (2012) Gastroblastoma in a 28-year-old man with nodal metastasis: proof of the malignant potential. Arch Pathol Lab Med 136(8):961-964
- ^ Graham RP, Nair AA, Davila JI, Jin L, Jen J, Sukov WR, Wu TT, Appelman HD, Torres-Mora J, Perry KD, Zhang L, Kloft-Mod Nelson SM, Knudson RA, Greipp PT, Folpe AL (2017) Gastroblastoma harbors a recurrent somatic MALAT1-GLI1 fusion gene. Mod Pathol doi: 10.1038/modpathol.2017.68
- ^ Shin DH, Lee JH, Kang HJ, Choi KU, Kim JY, Park DY, Lee CH, Sol MY, Park JH, Kim HY, Montgomery E (2010) Novel epitheliomesenchymal biphasic stomach tumour (gastroblastoma) in a 9-year-old: morphological, ultrastructural and immunohistochemical findings. J Clin Pathol 63(3):270-274
- ^ Wey EA, Britton AJ, Sferra JJ, Kasunic T, Pepe LR, Appelman HD (2012) Gastroblastoma in a 28-year-old man with nodal metastasis: proof of the malignant potential. Arch Pathol Lab Med 136(8):961-964