Sebaceous Carcinoma Arising From Heterotopic Salivary Gland Tissue in a Patient With Muir–Torre Syndrome

Syder, Nicole; Rabi, Sina; Hu, Jenny

doi:10.1097/dss.0000000000003259

Cited by 2 publications

(2 citation statements)

References 5 publications

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“…Large tumor cells showed sebaceous differentiation, with cellular pleomorphism, high mitotic activity and necrosis. P63, EMA, MLH1, MSH2 CK5/6, CEA, S100, CD10, Vimentin, melan A, CD45 2016 Marnouche 31 1 case Malignant proliferation composed of cells organized in nests and bays, with moderate to marked cytonuclear atypia, and a mixture of well-differentiated sebocytes and atypical basaloid cells N/A N/A 2018 Soares 6 10 cases Cells with foamy cytoplasm and presence of holocrine secretion P63, AE1AE3, CK5, CK7, CK14, EMA, adipophilin, MLH1, MSH2 AR, Factor XIIIa, S100, vimentin, perforin, SMA, calponin, CEA, ER, PR, PAS 2020 Holzgreve 12 1 case N/A N/A N/A 2021 Syder 32 1 case Heterotopic salivary gland tissue embedded within the subcutaneous tissue P63, CK5/6, AR, SOX-10, P16, PAX8, BerEP4 2022 Pratt 10 1 case Nests of basaloid cells at the periphery and areas of distinct sebaceous differentiation, separated by bands of extensive hyalinization.No necrosis, lymphovascular or perineural invasion EMA, CD15, lactoferrin, GCDFP-2, AR N/A 2022 Our case 1 case The malignant cells is characterized by pleomorphic nuclei with prominent nucleoli and foamy cytoplasm. Moderate numbers of mitoses were present.…”

Section: Discussionmentioning

confidence: 99%

Sebaceous Carcinoma of the Submandibular Gland a Case Report and Review of the Literature

Wang¹,

Luo²,

Shi³

et al. 2023

CMAR

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Objective Sebaceous carcinoma (SC) of the submandibular gland is extremely rare. Owing to the low morbidity and nonspecific clinical manifestations, diagnosis is commonly delayed, which increases metastasis and mortality. To date, there have been five reported cases of SC of the submandibular gland. Here, we present a new case and review the relevant literature. Methods and Results A 36-year-old woman presented with an enlarged left submandibular gland. Clinical features included a non-tender solitary nodular mass with normal overlying skin. There were no special findings on computed tomography or ultrasound examination except for a swollen mass in the left submandibular gland. The patient underwent surgical resection. Pathological examination confirmed the diagnosis of SC with nerve infiltration. Immunohistochemical examination of this case showed positive staining for P63, P40, CK7, CK8/18, MLH1, MSH2, MSH6, and PMS2. The specimen was negative for androgen receptor, CEA, S-100, CK5/6, SOX-10, SOX-11, SMA, and GCDFP-15. The KI-67 labeling index was determined to be 15%. PAS and anti-epithelial membrane antigen were positive in partial area. The patient is still undergoing follow-up, and no metastasis or recurrence has been observed for 2 months. Conclusion This case highlighted the fact that despite its rarity, SC should be considered as a differential diagnosis for masses located in the head and face. Early and accurate diagnosis, followed by wide surgical excision, has a favorable prognosis. Therefore, clinicians should be familiar with the clinical and pathological features of this disease.

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Section: Discussionmentioning

confidence: 99%

Sebaceous Carcinoma of the Submandibular Gland a Case Report and Review of the Literature

Wang¹,

Luo²,

Shi³

et al. 2023

CMAR

View full text Add to dashboard Cite

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“…A more recent breakthrough in this area are vaccines for immunoprevention of DNA mismatch repair deficient cancers, which show promising results in initial phases (25). There are approximatively 200 other cases reported in the literature describing this syndrome, thus emphasizing the particularity of this case (26)(27)(28)(29)(30)(31). Without strong evidence for specific treatment or prophylaxis options for these patients, active screening and managing tumours in the early stages seems the best available approach.…”

Section: Discussionmentioning

confidence: 99%

Muir-Torre Syndrome: a Long Way to Diagnosis

Turcas¹,

Fetică²,

Nagy³

2023

JMRO

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"Muir-Torre syndrome, a subtype of Lynch syndrome, is a rare genetic disorder. We present the case of a female patient with a long family and personal history who was diagnosed with numerous benign and malignant tumours of various histology, including some with sebaceous features, beginning at the age of 41. The majority were cutaneous tumours, treated with complete resection, but they frequently recurred. Visceral cancers included endocervical adenocarcinoma, vulvar squamous-cell carcinoma and urothelial carcinoma, treated surgically, followed by systemic oncological treatments and external beam radiotherapy. Following a 20-year evolution, extensive genetic blood testing revealed a pathogenic variant in the MSH2 gene, c.1861C>T (p.Arg621*), in heterozygous state. In light of this unusual clinical presentation and molecular profile, the patient was finally diagnosed with Muir-Torre syndrome. The prognosis was poor, with an inoperable recurrence of the urothelial carcinoma and extensive lymph node dissemination of a vulvar squamous cell carcinoma."

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Sebaceous Carcinoma Arising From Heterotopic Salivary Gland Tissue in a Patient With Muir–Torre Syndrome

Cited by 2 publications

References 5 publications

Sebaceous Carcinoma of the Submandibular Gland a Case Report and Review of the Literature

Sebaceous Carcinoma of the Submandibular Gland a Case Report and Review of the Literature

Muir-Torre Syndrome: a Long Way to Diagnosis

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