Intestinal‐type sinonasal adenocarcinomas: The road to molecular diagnosis and personalized treatment

Primary lingual intestinal-type adenocarcinomas are extremely rare with only a few cases described. A case with immunohistochemical expression of Androgen Receptor (AR) which was treated solely by chemo-radiotherapy is reported herein. A 54-year-old male was referred with symptoms of fullness in his tongue. Clinical examination showed an asymmetry of the tongue with a hard mass palpable within the middle of the tongue. Biopsy showed intestinal-type adenocarcinoma. The tumour showed positive staining with cytokeratin 7, cytokeratin 20, CDX2, AR, b-catenin and was mismatch repair proteins (MMR) proficient. The molecular analysis did not show mutations in the KRAS, NRAS, BRAF and PIK3CA genes. The patient was treated with radiochemotherapy and is in remission 3.5 years after the diagnosis. This is the first case of intestinal-type tongue adenocarcinoma which showed AR expression and was treated solely with radical chemoradiotherapy.

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“…Other genes which might be invoved are E-cadherin, TP53, DCC, DPC4, SMAD2, SMAD4, p14, p16, MOS and MYCC, LGALS4 and CLU [24].…”

Section: Discussionmentioning

confidence: 99%

Primary Intestinal-Type Adenocarcinoma of Tongue: A Case Report with Immunohistochemical and Molecular Profiles and Review of the Literature

Rahimi

Akaev

Repanos

et al. 2016

Head and Neck Pathol

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“…The latter was proposed in a single case report of adenocarcinoma located in a foregut duplication cyst but only the case reported by Smith et al has described a cystic component in oral tongue ITAC. The theory of malignant transformation of the salivary gland was extrapolated from evidence of ITAC of the sinonasal tract identified alongside respiratory epithelium transitioning to intestinal type …”

Section: Discussionmentioning

confidence: 99%

Primary intestinal‐type adenocarcinoma of the oral tongue: Case report and review of histologic origin and oncologic management

et al. 2018

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“…They are usually diagnosed with locally advanced disease, thus presenting a poor prognosis with high rates of relapse even after radical surgery and radiotherapy, with 5‐year survival rates of 25%–45%. Given the rarity of the disease, only one trial has studied, in the neoadjuvant setting, the role of systemic chemotherapy in SNS‐ITAC; therefore, data are lacking for its role in the recurrent or metastatic setting . SNS‐ITAC resembles primary CRC, accounts for half of SNS adenocarcinomas, and is considered a professional disease.…”

Section: Molecular Tumor Boardmentioning

confidence: 99%

Nasoethmoidal Intestinal-Type Adenocarcinoma Treated with Cetuximab: Role of Liquid Biopsy and BEAMing in Predicting Response to Anti-Epidermal Growth Factor Receptor Therapy

et al. 2019

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Sinonasal intestinal‐type adenocarcinomas (SNS‐ITAC) are very rare tumors that resemble colorectal cancer in many of their pathological and molecular characteristics. Indeed, in most published series, 10%–14% of SNS‐ITAC harbor mutations in KRAS. There is no standard systemic treatment in recurrent or metastatic SNS‐ITAC, and there is no evidence of the use of any targeted agent in this entity. We present the case of a recurrent nasoethmoidal ITAC informed as RAS and BRAF wild‐type by standard real‐time polymerase chain reaction methods and treated with first‐line cetuximab and irinotecan without response. Circulating tumor cells coupled to highly sensitive DNA analyses unveiled a mutation in KRAS exon 2 codon 12. Subsequent studies in the primary tumor using BEAMing detected a mutation in the same codon, confirming the KRAS mutated status of the tumor, and possibly explaining the absence of treatment response. This case exemplifies how liquid biopsy can aid in the correct and real‐time molecular characterization of tumors even in a rare nonmetastatic cancer of the head and neck. Key Points Sinonasal intestinal type adenocarcinomas (SNS‐ITAC) are rare tumors that commonly develop after a prolonged exposure to organic dusts (wood, leather, etc.), and that resemble colorectal cancer in some of their morphological and molecular characteristics. KRAS mutations have been described in 10%–14% in most series. However, its predictive value for guiding treatment decisions with targeted therapies (i.e., anti‐epidermal growth factor receptor [EGFR] therapy) has not been defined. The first case of an SNS‐ITAC treated with anti‐EGFR therapy (cetuximab) is reported. Analysis of DNA from circulating tumor cells (CTCs) unveiled a mutation in KRAS not detected by standard methods in the primary tumor. However, RAS analysis using BEAMing detected a mutation in the primary tumor in the same codon of KRAS originally detected in CTCs, altogether possibly explaining the lack of treatment response. Liquid biopsy may allow for an accurate molecular diagnosis in rare, organ‐confined tumors where few therapeutic options exist. Highly sensitive molecular diagnostics may aid in better characterizing rare entities harboring potentially druggable targets.

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Intestinal‐type sinonasal adenocarcinomas: The road to molecular diagnosis and personalized treatment

Abstract: More translational research is needed to identify druggable targets that may lead to a personalized treatment plan in order to improve long-term outcome in patients with locally advanced and/or metastasized ITAC. © 2016 Wiley Periodicals, Inc. Head Neck 38: First-1570, 2016.

Cited by 34 publications

References 52 publications

Primary Intestinal-Type Adenocarcinoma of Tongue: A Case Report with Immunohistochemical and Molecular Profiles and Review of the Literature

Primary Intestinal-Type Adenocarcinoma of Tongue: A Case Report with Immunohistochemical and Molecular Profiles and Review of the Literature

Primary intestinal‐type adenocarcinoma of the oral tongue: Case report and review of histologic origin and oncologic management

Nasoethmoidal Intestinal-Type Adenocarcinoma Treated with Cetuximab: Role of Liquid Biopsy and BEAMing in Predicting Response to Anti-Epidermal Growth Factor Receptor Therapy

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