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Gastrointestinal stromal tumours of the oesophagus: a clinicopathological and molecular analysis of 27 cases
Author(s) -
Kang Guhyun,
Kang Yuna,
Kim KyungHee,
Ha Sang Yun,
Kim Jung Yeon,
Shim Young Mog,
Heinrich Michael C,
Kim KyoungMee,
Corless Christopher L
Publication year - 2017
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.13292
Subject(s) - pdgfra , exon , cd117 , metastasis , gist , cd34 , pathology , pathological , esophagus , gastrointestinal tract , biology , medicine , stromal cell , gastroenterology , cancer , genetics , gene , stem cell
Aims Gastrointestinal stromal tumours ( GIST s) may arise anywhere in the gastrointestinal tract, but are rare in the oesophagus. We describe the clinical, pathological and molecular characteristics of 27 primary oesophageal GIST s, the largest series to date. Methods and results DNA was extracted and exons 9, 11, 13 and 17 of KIT , exons 12, 14 and 18 of PDGFR A and exon 15 of BRAF were amplified and sequenced. Oesophageal GIST s occurred in 14 men and 13 women aged between 22 and 80 years (mean: 56 years). All 27 cases were immunohistochemically positive for KIT , and 92 and 47% co‐expressed CD 34 or smooth muscle actin, respectively. Fifteen (71% of analysed cases) harboured KIT exon 11 mutations and one case each had a mutation in KIT exon 13 (K642E) or BRAF exon 15 (V600E). Long‐term follow‐up data (median, 96.5 months) were obtained for 20 cases; two patients had metastases at presentation and seven had developed local recurrence and/or metastasis after surgery. A large tumour size (≥ 10 cm), high mitotic rate (> 5/5 mm 2 ), presence of a deletion mutation in KIT exon 11 involving codons 557–558 and a positive microscopic margin were associated with recurrence and metastasis. The KIT mutations identified in oesophageal GIST s are similar to those observed in gastric GIST s. Conclusions Complete surgical resection with clear margins is recommended, if technically feasible, and genotyping can help to improve diagnosis and further patient management in oesophageal GIST .