Keratocystoma of the parotid gland is rare and requires an integrated multidisciplinary approach: Report of a case and a literature review

Aresta, Alex; Girolami, Ilaria; Paolino, Gaetano; Molteni, Gabriele; Sacchetto, Luca; Marchioni, Daniele; El-Dalati, G.; Sina, Sokol; Brunelli, Matteo; Manfrin, Erminia; Eccher, Albino

doi:10.1002/dc.24161

Cited by 3 publications

(7 citation statements)

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“…In our case, we study the lesion with cytological, histological and imaging examinations. Our case presented the same features of the previously reported cases1–7 10; in fact, our patient had no metastatic process or other malignant transformation either nerve damage. The squamous keratocystoma cell is benign, without sign of necrosis or other malignant features.…”

Section: Discussionsupporting

confidence: 88%

“…This tumour is usually painless, indeed, the current literature reported only one case5 of painful keratocystoma. In literature, FNAC was reported only in four cases: in three cases, the cytological examination found epithelial cells without nuclear atypia2 6 7 as in our patient, in one case a mucoepidermoid carcinoma was hypothesised 1. The histological examination, on the other hand, was comparable in all cases: cystic lesions filled with keratin material, lined with benign squamous epithelium, without granular cells.…”

Section: Discussionsupporting

confidence: 56%

“…Keratocystoma is a rare benign tumour of the salivary glands with very few cases in the world reported in scientific literature 1–8. Initially described by Seifert et al 3 9 as an unusual mass called choristoma, it was later studied by Nagao et al 1 calling it keratocystoma.…”

Section: Introductionmentioning

confidence: 99%

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Cystic lesion in parotid region: an unexpected diagnosis

et al. 2022

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Benign tumours of salivary glands represent 2%–3% of all tumours and parotid gland is most often affected. Keratocystoma is a rare benign tumour with multilocular cystic lesions filled with keratin materials. Histologically, it is characterised by solid epithelium islands containing keratinised lamellae with multicystic spaces. We report a case of a woman in her mid-70s with painless mass in her left parotid gland which increased in size over 1 year. Ultrasound scan revealed a 38×20 mm diameter hypoanechoic mass. Neck CT with contrast medium and fine needle aspiration were performed with diagnostic hypothesis of Warthin tumour. So, extracapsular parotid dissection with no facial nerve damage was performed. Histological examination revealed a keratocystoma. The patient had a 16-month follow-up without signs of relapse or malignancy. Despite its rarity, keratocystoma must be considered among the possible differential diagnostic hypotheses when we find parotid masses, to ensure the best treatment to the patient.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 56%

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Cystic lesion in parotid region: an unexpected diagnosis

et al. 2022

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“…Although the concept of keratocystoma has been in existence for over 20 years, it remains very rare, with only 12 reported cases. [1][2][3][4][5][6][7][8][9][10] This could be because it truly is a remarkably uncommon tumor, but it could also be underdiagnosed. After all, given the scarcity of reports, the clinical and pathologic features of keratocystoma were not well characterized.…”

Section: Discussionmentioning

confidence: 99%

“…Since the term keratocystoma was introduced, only a handful of additional cases have been published, either as 1 or 2 case reports. [3][4][5][6][7][8][9][10] Despite the rarity of this tumor, it was included as a benign neoplasm in the most recent World Health Organization Classification of Head and Neck Tumors. 11 Nevertheless, this tumor remains poorly understood.…”

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confidence: 99%

Keratocystoma

Bishop,

Nakaguro,

Urano

et al. 2023

American Journal of Surgical Pathology

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Keratocystoma is a rare salivary gland lesion that has been reported primarily in children and young adults. Because of a scarcity of reported cases, very little is known about it, including its molecular underpinnings, biological potential, and histologic spectrum. Purported to be a benign neoplasm, keratocystoma bears a striking histologic resemblance to benign lesions like metaplastic Warthin tumor on one end of the spectrum and squamous cell carcinoma on the other end. This overlap can cause diagnostic confusion, and it raises questions about the boundaries and definition of keratocystoma as an entity. This study seeks to utilize molecular tools to evaluate the pathogenesis of keratocystoma as well as its relationship with its histologic mimics. On the basis of targeted RNA sequencing (RNA-seq) results on a sentinel case, RUNX2 break-apart fluorescence in situ hybridization (FISH) was successfully performed on 4 cases diagnosed as keratocystoma, as well as 13 cases originally diagnosed as tumors that morphologically resemble keratocystoma: 6 primary squamous cell carcinomas, 3 metaplastic/dysplastic Warthin tumors, 2 atypical squamous cysts, 1 proliferating trichilemmal tumor, and 1 cystadenoma. RNA-seq and/or reverse transcriptase-PCR were attempted on all FISH-positive cases. Seven cases were positive for RUNX2 rearrangement, including 3 of 4 tumors originally called keratocystoma, 2 of 2 called atypical squamous cyst, 1 of 1 called proliferating trichilemmal tumor, and 1 of 6 called squamous cell carcinoma. RNA-seq and/or reverse transcriptase-PCR identified IRF2BP2::RUNX2 in 6 of 7 cases; for the remaining case, the partner remains unknown. The cases positive for RUNX2 rearrangement arose in the parotid glands of 4 females and 3 males, ranging from 8 to 63 years old (mean, 25.4 years; median, 15 years). The RUNX2-rearranged cases had a consistent histologic appearance: variably sized cysts lined by keratinizing squamous epithelium, plus scattered irregular squamous nests, with essentially no cellular atypia or mitotic activity. The background was fibrotic, often with patchy chronic inflammation and/or giant cell reaction. One case originally called squamous cell carcinoma was virtually identical to the other cases, except for a single focus of small nerve invasion. The FISH-negative case that was originally called keratocystoma had focal cuboidal and mucinous epithelium, which was not found in any FISH-positive cases. The tumors with RUNX2 rearrangement were all treated with surgery only, and for the 5 patients with follow-up, there were no recurrences or metastases (1 to 120 months), even for the case with perineural invasion. Our findings solidify that keratocystoma is a cystic neoplastic entity, one which appears to consistently harbor RUNX2 rearrangements, particularly IRF2BP2::RUNX2. Having a diagnostic genetic marker now allows for a complete understanding of this rare tumor. They arise in the parotid gland and affect a wide age range. Keratocystoma has a consistent morphologic appearance, which includes large squamous-lined cysts that mimic benign processes like metaplastic Warthin tumor and also small, irregular nests that mimic squamous cell carcinoma. Indeed, RUNX2 analysis has considerable promise for resolving these differential diagnoses. Given that one RUNX2-rearranged tumor had focal perineural invasion, it is unclear whether that finding is within the spectrum of keratocystoma or whether it could represent malignant transformation. Most important, all RUNX2-rearranged cases behaved in a benign manner.

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2022

Shear's Cysts of the Oral and Maxillofacial Regions

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Keratocystoma of the parotid gland is rare and requires an integrated multidisciplinary approach: Report of a case and a literature review

Cited by 3 publications

References 11 publications

Cystic lesion in parotid region: an unexpected diagnosis

Cystic lesion in parotid region: an unexpected diagnosis

Keratocystoma

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