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Primary small cell carcinoma of the mediastinum: a case report with immunohistochemical and molecular genetic analyses of KIT and PDGFRA genes

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Abstract

The author reports herein an extremely rare case of primary small cell carcinoma of the mediastinum with an emphasis on KIT and PDGFRA genes. A 66-year-old man was found to have a mediastinal tumor on a routine chest X-ray examination, and was admitted to our hospital. Imaging modalities revealed a 5 × 4 cm tumor in the middle mediastinum near the bronchial carina. No other tumors were detected in the body including the lungs. Video-assisted thoracoscopy confirmed the mediastinal tumor, and a large incisional biopsy was performed. The tumor was histologically small cell carcinoma. An immunohistochemical study revealed positive reactions for cytokeratins (AE1/3, polyclonal), synaptophysin, neuron-specific enolase, CD56, KIT, and PDGFRA, and negative reactions for chromogranin, CEA, CD45, CD20, and CD3. Ki-67 labeling showed a value of 80%. A molecular genetic analysis using PCR-direct sequencing identified no mutations of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) genes. The patient received radiation and chemotherapy, and the tumor was fully resolved. The patient has remained free of recurrence for 6 years after the first presentation. The present case is the first reported case of primary small cell carcinoma of the mediastinum with an examination of KIT and PDGFRA expressions and KIT and PDFGRA gene mutations.

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References

  1. Hirota S, Isozaki K. Pathology of gastrointestinal stromal tumor. Pathol Int. 2006;56:1–9. doi:10.1111/j.1440-1827.2006.02036.x.

    Article  PubMed  CAS  Google Scholar 

  2. Losota J, Miettinen M. KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diang Pathol. 2006;23:91–101. doi:10.1053/j.semdp.2006.08.006.

    Article  Google Scholar 

  3. Miettinen M, Lasota J. Gastrointestinal stromal tumor: review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med. 2006;130:1466–78.

    PubMed  CAS  Google Scholar 

  4. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumor. Science. 1998;279:577–80. doi:10.1126/science.279.5350.577.

    Article  PubMed  CAS  Google Scholar 

  5. Hirota S, Ohashi A, Nishida T, Isozaki K, Kinoshita K, Shinomura Y, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumor. Gastroenterology. 2003;125:660–7. doi:10.1016/S0016-5085(03)01046-1.

    Article  PubMed  CAS  Google Scholar 

  6. Miettinen M, Lasota J. KIT (CD117): a review on expression in normal and neoplastic tissue, and mutations and their clinicopathologic correlation. Appl Immunohistochem Mol Morphol. 2005;13:205–20. doi:10.1097/01.pai.0000173054.83414.22.

    Article  PubMed  CAS  Google Scholar 

  7. Takanami I, Imamura T, Yamamoto Y, Yamamoto T, Kodaira S. Long survival in small-cell (neuroendocrine) carcinoma of the mediastinum. Scand J Thorac Cardiovasc Surg. 1966;30:179–80.

    Google Scholar 

  8. Yang CC, Lee HS, Chen CC, Cheng CJ, Lin SH. Syndrome of inappropriate antidiuretic secretion in a patient with cryptcoccal meningoencepharltis a hidden mediastinal small cell carcinoma. Am J Med Sci. 2006;331:288–91. doi:10.1097/00000441-200605000-00012.

    Article  PubMed  Google Scholar 

  9. LaPoint RJ, Bourne PA, Wang HL, Xu H. Coexpression of c-kit and bcl-2 in small cell carcinoma and large cell neuroendocrine carcinoma of the lung. Appl Immunohistochem Mol Morphol. 2007;15:401–6.

    Article  PubMed  CAS  Google Scholar 

  10. Lopes-Martin A, Ballenstin C, Garcia-Carbonero R, Castano A, Lopez-Rios F, Lopes-Encuentra A, et al. Prognostic value of KIT expression in small cell lung carcinoma. Lung Cancer. 2007;56:405–13. doi:10.1016/j.lungcan.2007.01.029.

    Article  Google Scholar 

  11. Micke P, Basral M, Faldum A, Bittinger F, Ronnstrand L, Blaukat A, et al. Characterization of c-kit expression in small cell lung carcinoma: prognostic and therapeutic implications. Clin Cancer Res. 2003;9:188–94.

    PubMed  CAS  Google Scholar 

  12. Camps C, Sirera R, Bremnes RM, Garde J, Safont MJ, Blasco A, et al. Analysis of c-kit expression in small cell lung carcinoma: prevalence and prognostic implications. Lung Cancer. 2006;52:343–7. doi:10.1016/j.lungcan.2006.02.003.

    Article  PubMed  Google Scholar 

  13. Rossi G, Cavazza A, Marchioni A, Miggaldi M, Bavierli M, Fracciolongo N, et al. KIT expression in small cell carcinoma of the lung: effects of chemotherapy. Mod Pathol. 2003;16:1041–7. doi:10.1097/01.MP.0000089780.30006.DE.

    Article  PubMed  Google Scholar 

  14. Naeem M, Dahiya M, Clark JI, Creech SD, Alkin S. Analysis of c-kit protein expression in small-cell lung carcinoma and its implications for prognosis. Hum Pathol. 2002;33:1182–7. doi:10.1053/hupa.2002.129199.

    Article  PubMed  CAS  Google Scholar 

  15. Mojica WD, Saxena R, Starostik P, Cheney RT. CD117+ small cell lung cancer lacks the asp 816 val point mutation in exon 17. Histopathology. 2005;47:517–22. doi:10.1111/j.1365-2559.2005.02259.x.

    Article  PubMed  CAS  Google Scholar 

  16. Boldrini L, Ursino S, Gisfredi S, Faviana P, Donati V, Camcci T, et al. Expression and mutational status of c-kit in small-cell lung cancer: prognostic relevance. Clin Cancer Res. 2004;15:4101–8. doi:10.1158/1078-0432.CCR-03-0664.

    Article  Google Scholar 

  17. Burger H, Den Bakker MA, Stoter G, Verweij J, Nooter K. Lack of c-kit exon 11 activating mutations in c-kit/CD117-positive SCLC tumor specimens. Eur J Cancer. 2003;39:793–9. doi:10.1016/S0959-8049(03)00026-1.

    Article  PubMed  CAS  Google Scholar 

  18. Sihto H, Sarlomo-Rikara M, Tynnienen O, Tanner M, Andersson LC, Franssila K, et al. KIT and platelet-derived growth factor receptor alpha tyrosine kinase gene mutations and KIT amplifications in human solid tumors. J Clin Oncol. 2005;23:49–57. doi:10.1200/JCO.2005.02.093.

    Article  PubMed  CAS  Google Scholar 

  19. Terada T, Kawaguchi M, Furukawa K, Sekido Y, Osamura Y. Minute mixed ductal-endocrine carcinoma of the pancreas with predominant intraductal growth. Pathol Int. 2002;52:740–6. doi:10.1046/j.1440-1827.2002.01416.x.

    Article  PubMed  Google Scholar 

  20. Terada T, Kawaguchi M. Primary clear cell adenocarcinoma of the peritoneum. Tohoku J Exp Med. 2005;271:271–5. doi:10.1620/tjem.206.271.

    Article  Google Scholar 

  21. Terada T. Gastrointestinal stromal tumor of the uterus: a case report with genetic analyses of c-kit and PDGFRA genes. Int J Gynecol Oncol. (in press).

  22. Terada T. Primary extragastrointestinal stromal tumors of the transverse mesocolon without c-kit mutations but with PDGFRA mutations. Med Oncol. (in press).

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Authors and Affiliations

  1. Department of Pathology, Shizuoka City Shimizu Hospital, Miyakami 1231, Shimizu-Ku, Shizuoka, 424-8636, Japan

    Tadashi Terada

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  1. Tadashi Terada
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Terada, T. Primary small cell carcinoma of the mediastinum: a case report with immunohistochemical and molecular genetic analyses of KIT and PDGFRA genes. Med Oncol 26, 247–250 (2009). https://doi.org/10.1007/s12032-008-9116-5

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  • DOI: https://doi.org/10.1007/s12032-008-9116-5

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