Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations

Primary small cell carcinoma of the urinary bladder is very rare. A 72-year-old was admitted to our hospital because of hematuria and dysuria. Cystoscopy revealed a bladder full of multiple, solid and papillary tumors. Biopsies from the deep and papillary tumors were taken. Histologically, tumor was...

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Autores principales: Eliyakin, Nuket, Postaci, Hakan, Baskin, Yasemin, Kozacioğlu, Zafer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703920/
https://www.ncbi.nlm.nih.gov/pubmed/26788274
http://dx.doi.org/10.4081/rt.2015.5982
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author Eliyakin, Nuket
Postaci, Hakan
Baskin, Yasemin
Kozacioğlu, Zafer
author_facet Eliyakin, Nuket
Postaci, Hakan
Baskin, Yasemin
Kozacioğlu, Zafer
author_sort Eliyakin, Nuket
collection PubMed
description Primary small cell carcinoma of the urinary bladder is very rare. A 72-year-old was admitted to our hospital because of hematuria and dysuria. Cystoscopy revealed a bladder full of multiple, solid and papillary tumors. Biopsies from the deep and papillary tumors were taken. Histologically, tumor was pure small cell carcinoma. Immunohistochemically, the tumor cells were positive for cytokeratin, chromo-granin, synaptophysin, neuron-specific enolase, CD56, CD117 and Ki67 (labeling 70%). The tumor cells were negative for CK7, CK20, CD3, CD20, LCA, CDX2, uroplakin, thyroid transcription factor 1, PSA and p63. Metastatic workup was performed an no primary or metastatic lung lesions were noted. Due to the clinical, radiologic and immunohistochemical findings, the patient was diagnosed as primary small cell carcinoma of bladder. A molecular genetic analysis for KIT (exons 9, 11, 13 and 17) and PDGFRA (exons 12 and 18) genes was performed, in paraffin micro dissection specimens, by the PCR-direct sequencing method. According to the sequencing analyses, two mutations were found at positions 558 (p.K558N) and 562 (p.E562D) in KIT gene exon 11 in our case. The another hand the same case presented two mutations in PDGFRA gene exon 14 at position 631 (p.P631A) and 638 (p.638Q_639AinsC). The disease process was fulminant and the patient was lost due to several complications prior to any chemotherapy.
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spelling pubmed-47039202016-01-19 Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations Eliyakin, Nuket Postaci, Hakan Baskin, Yasemin Kozacioğlu, Zafer Rare Tumors Case Report Primary small cell carcinoma of the urinary bladder is very rare. A 72-year-old was admitted to our hospital because of hematuria and dysuria. Cystoscopy revealed a bladder full of multiple, solid and papillary tumors. Biopsies from the deep and papillary tumors were taken. Histologically, tumor was pure small cell carcinoma. Immunohistochemically, the tumor cells were positive for cytokeratin, chromo-granin, synaptophysin, neuron-specific enolase, CD56, CD117 and Ki67 (labeling 70%). The tumor cells were negative for CK7, CK20, CD3, CD20, LCA, CDX2, uroplakin, thyroid transcription factor 1, PSA and p63. Metastatic workup was performed an no primary or metastatic lung lesions were noted. Due to the clinical, radiologic and immunohistochemical findings, the patient was diagnosed as primary small cell carcinoma of bladder. A molecular genetic analysis for KIT (exons 9, 11, 13 and 17) and PDGFRA (exons 12 and 18) genes was performed, in paraffin micro dissection specimens, by the PCR-direct sequencing method. According to the sequencing analyses, two mutations were found at positions 558 (p.K558N) and 562 (p.E562D) in KIT gene exon 11 in our case. The another hand the same case presented two mutations in PDGFRA gene exon 14 at position 631 (p.P631A) and 638 (p.638Q_639AinsC). The disease process was fulminant and the patient was lost due to several complications prior to any chemotherapy. PAGEPress Publications, Pavia, Italy 2015-12-29 /pmc/articles/PMC4703920/ /pubmed/26788274 http://dx.doi.org/10.4081/rt.2015.5982 Text en ©Copyright N. Eliyakin et al. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Eliyakin, Nuket
Postaci, Hakan
Baskin, Yasemin
Kozacioğlu, Zafer
Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title_full Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title_fullStr Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title_full_unstemmed Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title_short Small Cell Carcinoma of the Urinary Bladder: KIT and PDGFRA Gene Mutations
title_sort small cell carcinoma of the urinary bladder: kit and pdgfra gene mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703920/
https://www.ncbi.nlm.nih.gov/pubmed/26788274
http://dx.doi.org/10.4081/rt.2015.5982
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