Clear Cell Odontogenic Carcinomas Show EWSR1 Rearrangements

Bilodeau, Elizabeth A.; Weinreb, Ilan; Antonescu, Cristina R.; Zhang, Lei; Đačić, Sanja; Müller, Susan; Barker, Bruce F.; Seethala, Raja R.

doi:10.1097/pas.0b013e31828a6727

Cited by 166 publications

(38 citation statements)

References 9 publications

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“…PTCH1 mutations are reported in odontogenic keratocysts with or without association to nevoid basal cell carcinoma syndrome (Qu et al, 2015;Wright, Odell, Speight, & Takata, 2014). In malignant tumors, BRAFV600E has been observed in ameloblastic carcinoma and clear cell odontogenic carcinoma (Diniz et al, 2015), as well as the fusion gene EWSR1-ATF1 has been reported in clear cell odontogenic carcinoma (Bilodeau et al, 2013). In this study, we used immunohistochemistry to localize BRAFV600E in the AOT tissues but no case was positive confirming that this mutation is not present in AOT (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

et al. 2018

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Objective This study aimed to assess the frequency of KRAS mutation and its association with the presence of the MAPK/ERK signaling pathway proteins in adenomatoid odontogenic tumors. Study Design Paraffin‐embedded tissue samples from nine cases of adenomatoid odontogenic tumor were used. Genomic DNA was extracted from each sample; in one case, genetic mutations in 50 cancer‐associated genes were examined by next‐generation sequencing. Hotspot mutations in the RAS family were analyzed by Luminex assay using the remaining eight cases. Subsequently, immunohistochemistry for KRAS, CRAF, BRAF, EGFR, ERK, MEK, and BRAFV600E was performed. Results A KRAS G12D missense mutation was detected in the DNA sequence of the tumor cells, but it was not detected in the stromal tissue. KRAS G12V and KRAS G12R mutations were detected in two and four cases, respectively. For immunohistochemistry, all the cases were EGFR, KRAS, BRAF, CRAF positive, one case was ERK negative,and one case was MEK and ERK negative, all the other remaining cases were MEK and ERK positive. Conclusion KRAS mutation at codon 12 and the presence of MAPK/ERK pathway proteins were detected suggesting their association with tumorigenesis of adenomatoid odontogenic tumors.

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Section: Discussionmentioning

confidence: 99%

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

et al. 2018

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“…29, 30, 31, 32, 33 EWSR1 gene rearrangement also can be seen in extraskeletal myxoid chondrosarcoma, clear cell sarcoma, hyalinizing clear cell carcinoma, clear cell odontogenic carcinoma, desmoplastic small round cell tumor, and myxoid liposarcoma. 34, 35, 36, 37, 38, 39 Thus, corroborating morphologic, immunophenotypic, and genetic features is required for a definitive ES diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Primary Ewing Family of Tumors of the Jaw Has a Better Prognosis Compared to Tumors of Extragnathic Sites

Owosho

Rosenberg

et al. 2016

Journal of Oral and Maxillofacial Surgery

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Purpose Primary Ewing sarcoma of the jaw is rare. The aim of this study was to describe new cases of primary Ewing sarcoma of the jaw and investigate reported prognostic factors of Ewing sarcoma in this series and treatment outcome. Materials and Methods Six patients with primary Ewing sarcoma of the jaw were treated at the Memorial Sloan Kettering Cancer Center (MSKCC) from 1992 through 2013. Clinical data, pathology reports, treatment prescribed, treatment regimens, outcome, and follow-up information were reviewed. Results Five of 6 patients were female and 5 cases were in the mandible. No patient presented with metastatic disease at diagnosis. All cases were positive for CD99, and 3 patients with genetic confirmation were positive for EWS-FLI1 fusion or EWSR1 gene rearrangement. All patients received induction multiagent chemotherapy and surgical resection and 2 patients received adjuvant radiotherapy. Total (grade IV) or nearly total (grade III) tumor necrosis in 3 of 5 patients (60%) assessed for histologic response to chemotherapy indicated intense sensitivity. All patients were alive and free of disease, with no history of local recurrence, at a median follow-up period of 6.5 years. Conclusion Patients with primary Ewing sarcoma of the jaw have a good prognosis and metastasis is an uncommon occurrence at initial presentation.

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“…Available clinical and demographic parameters were obtained. Cases not included for review in this study were: 6 cases of ''carcinomas ex Schneiderian papillomas (reported from our institution previously)'' [20], and 2 ''clear cell/sinonasal renal cell like adenocarcinoma (one also reported previously by us)'' [21].…”

Section: Case Selectionmentioning

confidence: 99%

A Subset of Sinonasal Non-Intestinal Type Adenocarcinomas are Truly Seromucinous Adenocarcinomas: A Morphologic and Immunophenotypic Assessment and Description of a Novel Pitfall

Purgina

Bastaki

Duvvuri

et al. 2015

Head and Neck Pathol

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While sinonasal intestinal type adenocarcinoma (ITAC) is defined by an intestinal phenotype, non-intestinal type adenocarcinoma (non-ITAC) is traditionally viewed as a diagnosis of exclusion, despite previous implication of a seromucinous phenotype and similarity to sinonasal seromucinous hamartomas (SSH). We performed a comparison of clinicopathologic and immunophenotypic features of ITAC, non-ITAC and SSH using traditional discriminatory markers and new markers of seromucinous differentiation. Twenty-three non-ITAC, 17 ITAC, and 5 SSH were retrieved (1987-2014). As expected, ITAC occurred predominantly in the nasal cavity in elderly patients (mean age 65 years) with a striking male predilection (15:2). Regardless of grade/subtype, all ITAC were invariably CK20 and CDX2 positive, and many (11/15) showed some CK7 positivity. Non-ITAC occurred in younger individuals (mean age 51 years) with a slight female predilection (male to female ratio: 10:13) and showed diverse morphologic patterns and grades, some with morphologic similarity to SSH. SSH occurred in younger individuals (mean age 33 years). Non-ITAC and SSH were invariably CK7 positive and CK20 negative, however, 4/22 non-ITAC and 2/5 SSH showed squamoid morular metaplasia that aberrantly expressed CDX2 and co-expressed nuclear β-catenin. Markers of seromucinous differentiation (S100, DOG1, and SOX10) were essentially absent in ITAC, but present to varying degrees in the majority of non-ITAC and all SSH. Thus, the term 'seromucinous adenocarcinoma' is the more appropriate designation for non-ITAC. Squamoid morules in non-ITAC and SSH may be an immunophenotypic pitfall given the aberrant CDX2 expression.

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Clear Cell Odontogenic Carcinomas Show EWSR1 Rearrangements

Cited by 166 publications

References 9 publications

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

Primary Ewing Family of Tumors of the Jaw Has a Better Prognosis Compared to Tumors of Extragnathic Sites

A Subset of Sinonasal Non-Intestinal Type Adenocarcinomas are Truly Seromucinous Adenocarcinomas: A Morphologic and Immunophenotypic Assessment and Description of a Novel Pitfall

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