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Antitumor activity of sorafenib and imatinib in a patient with thymic carcinoma harboring c-KIT exon 13 missense mutation K642E.

Catania C, Conforti F, Spitaleri G, Barberis M, Preda L, Noberasco C, Lazzari C, Toffalorio F, de Marinis F, Manzotti M, De Pas TM - Onco Targets Ther (2014)

Bottom Line: This aberration is rare and has never been described previously in patients with thymic cancers.It has been found in a small number of cases of gastrointestinal stromal tumor and also in several cases of acral and mucosal melanomas.In contrast, in our case, the mutation was associated with primary resistance to full doses of imatinib but, at the same time, it was not a cause of resistance to sorafenib.

View Article: PubMed Central - PubMed

Affiliation: Division of Thoracic Oncology, European Institute of Oncology, Milan, Italy.

ABSTRACT
We report the case of a man with an advanced nonkeratinizing squamous cell thymic carcinoma harboring c-KIT exon 13 missense mutation K642E. This aberration is rare and has never been described previously in patients with thymic cancers. It has been found in a small number of cases of gastrointestinal stromal tumor and also in several cases of acral and mucosal melanomas. Some of the patients with gastrointestinal stromal tumor or melanoma harboring this rare mutation have had a tumor response when treated with imatinib. In contrast, in our case, the mutation was associated with primary resistance to full doses of imatinib but, at the same time, it was not a cause of resistance to sorafenib.

No MeSH data available.


Related in: MedlinePlus

Histological and radiological diagnosis.Notes: (A) Histology, liver biopsy. (B) Primary tumor.
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f1-ott-7-697: Histological and radiological diagnosis.Notes: (A) Histology, liver biopsy. (B) Primary tumor.

Mentions: A 58-year-old man without relevant comorbidities was diagnosed in July 2009 with a thymic carcinoma and multiple synchronous hepatic metastases by total body computed tomography (CT) and total body fluorodeoxyglucose positron emission tomography. The histological diagnosis was made from a liver biopsy, which showed proliferation of epithelial spindle cells arranged in bundles. The nuclei were cigar-shaped with granular chromatin. There was no necrosis and the mitotic rate was two mitoses per ten high-power fields. The cells showed immunostaining for cytokeratins AE1–AE3 and cytokeratins 5/6, transformation-related protein 63, and tyrosine-protein kinase Kit, but not for thyroid transcription factor, Wilms tumor 1, cluster of differentiation 1a, terminal deoxynucleotidyltransferase-positive cells, CD5, chromogranin A, or synaptophysin. A diagnosis was made of poorly differentiated nonkeratinizing squamous cell carcinoma with a prevalent low-grade spindle cell pattern consistent with metastatic thymic carcinoma (Figure 1A and B).


Antitumor activity of sorafenib and imatinib in a patient with thymic carcinoma harboring c-KIT exon 13 missense mutation K642E.

Catania C, Conforti F, Spitaleri G, Barberis M, Preda L, Noberasco C, Lazzari C, Toffalorio F, de Marinis F, Manzotti M, De Pas TM - Onco Targets Ther (2014)

Histological and radiological diagnosis.Notes: (A) Histology, liver biopsy. (B) Primary tumor.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4020909&req=5

f1-ott-7-697: Histological and radiological diagnosis.Notes: (A) Histology, liver biopsy. (B) Primary tumor.
Mentions: A 58-year-old man without relevant comorbidities was diagnosed in July 2009 with a thymic carcinoma and multiple synchronous hepatic metastases by total body computed tomography (CT) and total body fluorodeoxyglucose positron emission tomography. The histological diagnosis was made from a liver biopsy, which showed proliferation of epithelial spindle cells arranged in bundles. The nuclei were cigar-shaped with granular chromatin. There was no necrosis and the mitotic rate was two mitoses per ten high-power fields. The cells showed immunostaining for cytokeratins AE1–AE3 and cytokeratins 5/6, transformation-related protein 63, and tyrosine-protein kinase Kit, but not for thyroid transcription factor, Wilms tumor 1, cluster of differentiation 1a, terminal deoxynucleotidyltransferase-positive cells, CD5, chromogranin A, or synaptophysin. A diagnosis was made of poorly differentiated nonkeratinizing squamous cell carcinoma with a prevalent low-grade spindle cell pattern consistent with metastatic thymic carcinoma (Figure 1A and B).

Bottom Line: This aberration is rare and has never been described previously in patients with thymic cancers.It has been found in a small number of cases of gastrointestinal stromal tumor and also in several cases of acral and mucosal melanomas.In contrast, in our case, the mutation was associated with primary resistance to full doses of imatinib but, at the same time, it was not a cause of resistance to sorafenib.

View Article: PubMed Central - PubMed

Affiliation: Division of Thoracic Oncology, European Institute of Oncology, Milan, Italy.

ABSTRACT
We report the case of a man with an advanced nonkeratinizing squamous cell thymic carcinoma harboring c-KIT exon 13 missense mutation K642E. This aberration is rare and has never been described previously in patients with thymic cancers. It has been found in a small number of cases of gastrointestinal stromal tumor and also in several cases of acral and mucosal melanomas. Some of the patients with gastrointestinal stromal tumor or melanoma harboring this rare mutation have had a tumor response when treated with imatinib. In contrast, in our case, the mutation was associated with primary resistance to full doses of imatinib but, at the same time, it was not a cause of resistance to sorafenib.

No MeSH data available.


Related in: MedlinePlus