eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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SCImago Journal & Country Rank
2/2020
vol. 71
 
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abstract:
Original paper

C-KIT mutation in thymic carcinomas

Neslihan Kaya Terzi
1
,
Ismail Yilmaz
1
,
Sebnem Batur
2
,
Gulcin Yegen
3
,
Cansu Yol
2
,
Evsen Apaydin Arikan
3
,
Aysim Buge Oz
2

1.
Department of Pathology, University of Health Sciences, Sultan Abdulhamid Han Training and Research Hospital, Istanbul, Turkey
2.
Department of Pathology, Cerrahpasa University, Cerrahpasa Medical Faculty, Istanbul, Turkey
3.
Gulcin Yegen, Department of Pathology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey
Pol J Pathol 2020; 71 (2): 120-126
Online publish date: 2020/07/21
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Thymic epithelial tumours are rare malignancies of the anterior superior mediastinum. Several studies have analysed the presence of c-KIT mutations in thymic carcinoma. Immunohistochemical c-KIT expression and mutations in exons 8, 9, 11, 13, 14, 17, and 18 of the KIT gene and in the promoter region of the TERT gene (chr5, 1,295,228C>T/A and 1,295,250C>T) were analysed by PCR based direct sequencing using representative formalin-fixed paraffin-embedded tumour samples of 18 thymic carcinomas. Of 18 patients, 4 test samples were excluded from the study due to inadequate DNA quality. Of 14 patients with thymic carcinomas, KIT and TERT mutation was not detected in any samples. C-KIT expression was associated with nearly a worse overall survival (median time 24.160-49.840, log-rank, p = 0.05). We showed that squamous cell carcinomas led to worse survival than other subtypes. As expected, TNM stage II was significantly correlated with better OS (p = 0.015). Thymic carcinoma is characterised by a KIT-positive and CD5-positive staining pattern. We report a worse overall survival for patients with c-kit expressing tumours. These data suggest a negative prognostic role for c-kit expression especially within the first 5 years.
keywords:

thymic cancer, KIT, immunohistochemical staining, mutation analysis, survival analysis

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