Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma: A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile

Stella Blandamura; Lara Alessandrini; Roberta Bertorelle; Francesca Simonato; Vincenza Guzzardo; Elisa Valentini; Imerio Angriman; Ambrogio Fassina

doi:10.1016/j.prp.2014.01.019

Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma: A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile

Stella Blandamura, Lara Alessandrini, Roberta Bertorelle, Francesca Simonato, Vincenza Guzzardo, Elisa Valentini, Imerio Angriman, Ambrogio Fassina

Istituto Oncologico Veneto

Research output: Contribution to journal › Article › peer-review

Abstract

GISTs originating multifocally at different GI sites, in patients lacking familial syndromes, could be interpreted as recurrent/metastatic disease. MiR-221/222 have recently been identified as regulators of KIT expression in GISTs. We report the first case of synchronous GISTs in the stomach and duodenum concomitant with an ampullary adenocarcinoma. Different CD117 expression patterns could be related to different KIT mutational status in the two lesions: gastric GIST showed a dot-like pattern and lacked KIT mutations; duodenal GIST had a strong membranous expression pattern, likely due to KIT exon 9 duplication, which is associated with lower response to imatinib. MiR-221/222 were downregulated in GISTs as compared with normal tissue (p

Original language	English
Pages (from-to)	392-396
Number of pages	5
Journal	Pathology Research and Practice
Volume	210
Issue number	6
DOIs	https://doi.org/10.1016/j.prp.2014.01.019
Publication status	Published - 2014

Keywords

Adenocarcinoma
GISTs
MiR-221/222
Mutation
Polyclonality

ASJC Scopus subject areas

Pathology and Forensic Medicine
Cell Biology
Medicine(all)

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10.1016/j.prp.2014.01.019

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Blandamura, S., Alessandrini, L., Bertorelle, R., Simonato, F., Guzzardo, V., Valentini, E., Angriman, I., & Fassina, A. (2014). Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma: A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile. Pathology Research and Practice, 210(6), 392-396. https://doi.org/10.1016/j.prp.2014.01.019

Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma : A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile. / Blandamura, Stella; Alessandrini, Lara; Bertorelle, Roberta et al.

In: Pathology Research and Practice, Vol. 210, No. 6, 2014, p. 392-396.

Research output: Contribution to journal › Article › peer-review

Blandamura, S, Alessandrini, L, Bertorelle, R, Simonato, F, Guzzardo, V, Valentini, E, Angriman, I & Fassina, A 2014, 'Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma: A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile', Pathology Research and Practice, vol. 210, no. 6, pp. 392-396. https://doi.org/10.1016/j.prp.2014.01.019

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abstract = "GISTs originating multifocally at different GI sites, in patients lacking familial syndromes, could be interpreted as recurrent/metastatic disease. MiR-221/222 have recently been identified as regulators of KIT expression in GISTs. We report the first case of synchronous GISTs in the stomach and duodenum concomitant with an ampullary adenocarcinoma. Different CD117 expression patterns could be related to different KIT mutational status in the two lesions: gastric GIST showed a dot-like pattern and lacked KIT mutations; duodenal GIST had a strong membranous expression pattern, likely due to KIT exon 9 duplication, which is associated with lower response to imatinib. MiR-221/222 were downregulated in GISTs as compared with normal tissue (p",

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AU - Simonato, Francesca

AU - Guzzardo, Vincenza

AU - Valentini, Elisa

AU - Angriman, Imerio

AU - Fassina, Ambrogio

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KW - MiR-221/222

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KW - Polyclonality

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Multiple sporadic gastrointestinal stromal tumors concomitant with ampullary adenocarcinoma: A case report with KIT and PDGFRA mutational analysis and miR-221/222 expression profile

Abstract

Keywords

ASJC Scopus subject areas

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