Wood dust–related mutational profile of TP53 in intestinal-type sinonasal adenocarcinoma

Pérez-Escuredo, Jhudit; Martínez, Jorge García; Vivanco, Blanca; Marcos, César; Suárez, Carlos; Llorente, José Luís; Hermsen, Mario

doi:10.1016/j.humpath.2012.01.016

Cited by 49 publications

(51 citation statements)

References 27 publications

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“…ITAC is a rare neoplasm representing 8%–25% of all malignant sinonasal tumors and it is strongly associated with hard wood dust exposure [5,6]. They morphologically and phenotypically combine both usual types and subtypes of colorectal cancer.…”

Section: Resultsmentioning

confidence: 99%

EGFR Expression and KRAS and BRAF Mutational Status in Intestinal-Type Sinonasal Adenocarcinoma

Szablewski

Solassol

Poizat

et al. 2013

IJMS

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Accumulation of molecular alterations, including EGFR overexpression and mutations in KRAS and BRAF, contribute to colorectal carcinogenesis. Since intestinal-type adenocarcinoma (ITAC) of the nasal cavity and paranasal sinus has morphologic and phenotypic features that are usually indistinguishable from colorectal cancer (CRC), it is likely that both tumor types share equivalent genetic alterations. Data from a series of 43 patients treated surgically for ITAC in Montpellier, France between November 1998 and December 2012 were collected. Tumors were characterized for mutations in KRAS and BRAF as well as EGFR overexpression. Kaplan-Meier survival curves were constructed using overall survival as the primary end points. Patient survival was analyzed using the hazards ratio. Twenty seven tumors (63%) showed EGFR positivity and 30% exhibited a high expression level (+2/+3). KRAS mutations were detected in 43% of cases. BRAF mutations were identified in 3.6% of specimens. Patients with age superior to 60 years, metastatic status, and KRAS mutations had significant overall survival values (p = 0.026, p = 0.001 and p = 0.03, respectively). Our results indicate that KRAS mutations and EGFR expression are frequent in ITAC and that KRAS mutations predict good patient prognosis in ITAC. Finally, EGFR directed molecular treatments could be investigated in a subset of patients affected by ITAC.

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Section: Resultsmentioning

confidence: 99%

EGFR Expression and KRAS and BRAF Mutational Status in Intestinal-Type Sinonasal Adenocarcinoma

Szablewski

Solassol

Poizat

et al. 2013

IJMS

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“…The correlation of wood dust particle exposure with intestinaltype sinonasal adenocarcinoma (ITAC) has been welldocumented [6]. Interestingly, analysis of ITAC mutations has identified TP53 mutations in approximately 40 % of ITAC [11]. Of these, the mutation in the TP53 suppressor gene demonstrated a characteristic-though neither specific nor exclusive-G?A transition in codons 248, 176 or 175.…”

Section: Discussionmentioning

confidence: 99%

Primary Lingual Colonic-Type Adenocarcinoma: A Rare and Emerging Distinct Entity!

Smith

Old

Iwenofu

2016

Head and Neck Pathol

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Primary colonic-type adenocarcinoma involving the tongue (CTAT) is exquisitely rare, with only four cases having been reported in the literature. We report the case of a 53-year-old woman with an anterior (oral) tongue mass. A review of literature was performed. Histomorphologic features were evaluated with standard hematoxylin and eosin stained sections. Ancillary testing was performed. The mass consisted of invasive adenocarcinoma associated with ''dirty necrosis'', akin to the phenotype seen in colorectal adenocarcinoma. By immunohistochemistry, the tumor cells were positive for AE1/3, CDX2, CK20, SATB2 and beta-catenin. This was initially felt to represent a metastatic colorectal adenocarcinoma but subsequent PET/ CT and colonoscopy examination were negative for colorectal mass, excluding the possibility of a metastasis and confirming a diagnosis of CTAT. We raise awareness of the existence of this entity and recommend that metastatic disease be excluded before rendering a diagnosis of CTAT.

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“…Positive and negative control samples (cell line spin downs) for EGFR were provided by the the manufacturer. A HPV-positive cervix carcinoma sample was used as a positive control for p16, and a TP53 mutated sinonasal intestinal-type adenocarcinoma sample for p531213. Immunohistochemistry was performed using an automatic staining workstation (Dako Autostainer, Dako Cytomation, Glostrup, Denmark) with the Envision system and diaminobenzidine chromogen as substrate.…”

Section: Methodsmentioning

confidence: 99%

“…TP53 mutations in exons 5–9, KRAS in exon 2 (codons 12 and 13) and BRAF exon 15 (V600E) were analyzed by direct sequencing using the ABI PRISM 3100 and 3730 Genetic Analyzer, (Applied Biosystems, Foster City CA, USA) as described previously1314 using the following primers:…”

Section: Methodsmentioning

confidence: 99%

Establishment and genetic characterization of six unique tumor cell lines as preclinical models for sinonasal squamous cell carcinoma

García‐Inclán

López-Hernández

Alonso-Guervós

et al. 2014

Sci Rep

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Sinonasal squamous cell carcinomas (SCC) are rare tumors, etiologically related to occupational exposure to wood and leather dust. In spite of surgical and radiotherapeutic advances, the 5 year survival is still 30–50%. Therefore, alternative treatment options are needed. We report the establishment and characterization of six unique human sinonasal SCC cell lines, named SCCNC1, 2, 4, 5, 6 and 7. In vitro growth and invasion characteristics were evaluated and genetic profiles were compared to those of the original primary tumors. The population doubling times ranged from 21 to 34 hours. Cell lines SCCNC2 and 7 were highly invasive in matrigel. Five cell lines carried a high number of copy number alterations, including amplifications and homozygous deletions, while one showed only three abnormalities. Sequence analysis revealed three cell lines with TP53 mutation and none with KRAS or BRAF. Overexpression of p53 was observed in five, and of EGFR in four cell lines. None of the cell lines showed strong immunopositivity of p16 or presence of human papilloma virus. In conclusion, we have created six new cell lines that are clinically and genetically representative of sinonasal SCC and that will be a useful tool for the preclinical testing of new therapeutic agents.

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Wood dust–related mutational profile of TP53 in intestinal-type sinonasal adenocarcinoma

Cited by 49 publications

References 27 publications

EGFR Expression and KRAS and BRAF Mutational Status in Intestinal-Type Sinonasal Adenocarcinoma

EGFR Expression and KRAS and BRAF Mutational Status in Intestinal-Type Sinonasal Adenocarcinoma

Primary Lingual Colonic-Type Adenocarcinoma: A Rare and Emerging Distinct Entity!

Establishment and genetic characterization of six unique tumor cell lines as preclinical models for sinonasal squamous cell carcinoma

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