Salivary duct carcinoma: A case report of oncocytic variant with possible treatment implications and review of literature

Sekhri, Radhika; Ortanca, Ibrahim; Boals, Christopher; Agarwal, Shweta

doi:10.1016/j.prp.2019.152549

Cited by 16 publications

(6 citation statements)

References 30 publications

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“…Somatic PIK3CA mutations have been associated with various phenotypes of overgrowth disorders which combine skeletal, vascular and epidermal overgrowth mosaic and segmental disorders referred to as PIK3CA-Related Overgrowth Spectrum (PROS) [28]. The PIK3CA H1047L variant observed herein is identified in patients with breast cancer [29][30][31], in an example of salivary duct carcinoma [32], in infiltrating lipomatosis [33] of the nerve with or without overgrowth [34], and in lymphatic endothelial cells from lymphatic malformations as seen in Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal syndrome (CLOVES), a form of PROS [35].…”

Section: Discussionmentioning

confidence: 85%

Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion

Koutlas

Oetting

Burns

et al. 2021

Head and Neck Pathol

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Composite hemangioendothelioma (CHE) is considered a borderline malignant vascular tumor defined by an admixture of distinct vascular neoplastic components. A 21-year-old female is presented herein with a 1 cm painless mandibular vestibular mass of less than a year duration. The infiltrating tumor was characterized by dilated vascular channels lined by endothelial cells with bland ovoid or round nuclei exhibiting, occasionally, hobnail/matchstick-like arrangement. Intravascular cell proliferations with hyaline globular deposits were also present. Additionally, lobular spindle and epithelioid cell aggregates, as well as slit-like spaces exhibiting a retiform or angiosarcomatous morphology were observed. Intracytoplasmic signet-ring or lipoblast-like vacuolization was also noted. Mitotic activity was exceptionally rare. Vascular spaces and the stroma featured lymphocytes and plasma cells. Neoplastic cells were positive for CD31, CD34, D2-40 and ERG, negative for CAMTA1 and synaptophysin, while type IV collagen highlighted the plasmalemma of most vessels and hyaline globules. Fluorescence in situ hybridization revealed gene rearrangements in both YAP1 and MAML2 genes, in keeping with a YAP1-MAML2 fusion. Whole exome sequencing (WES) identified three missense mutations FLT1 [p.R1016G], PIK3CA [p.H1047L], and C11orf42 [p.A304P] and a mitochondrial frameshift insertion MT-ND4 [c.1107_1108insC; p.P370fs]. These WES results suggest that FLT1 and/or PIK3CA variants may contribute to tumor growth/transformation while the MT-ND4 variant may relate to proliferation, angiogenesis and/or inhibition of apoptosis.

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Section: Discussionmentioning

confidence: 85%

Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion

Koutlas

Oetting

Burns

et al. 2021

Head and Neck Pathol

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“…In addition, Fishbein et al 5 described a case of a mucin-rich variant of LSDC, a rare type of LSDC, characterised by clusters of neoplastic cells floating in a mucin lake resembling colloid carcinoma, and this is the only case reported to date. The above morphologies are similar to those of SDCs arising in the head and neck 11. Given organ specificity, tumour cells of LSDCs often involve the bronchial epithelium and submucosal salivary glands, similar to lobular cancerisation of breast carcinoma.…”

Section: Discussionmentioning

confidence: 61%

Primary salivary duct carcinoma of the lung: clinicopathological features, diagnosis and practical challenges

Hou

Huang

et al. 2023

J Clin Pathol

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AimsTo investigate the clinicopathological features, molecular characteristics and diagnostic criteria of primary salivary duct carcinoma of the lung (LSDC).MethodsWe analysed the clinicopathological and molecular features of five cases of LSDC retrieved from the archives of Shanghai Pulmonary Hospital from 2020 to 2022, and reviewed the relevant literature.ResultsAll patients were men, with an average age of 66 years (age range: 49–79 years), and all lesions were central masses with a mean maximum diameter of 42.6 mm (range: 16–70 mm). Morphologically, LSDC comprised of intraductal and invasive components. Both the intraductal and invasive components of LSDC can exhibit papillary, micropapillary, cribriform, tubule structures and solid proliferation. The intraductal component can exhibit Roman bridge structures, which were usually accompanied by central comedo-like necrosis. Immunohistochemically, LSDCs consistently expressed cytokeratin (CK)7 (5 of 5) and showed variable positivity of androgen receptor (AR) (5 of 5) focally or diffusely; additionally, the tumour cells expressed human epidermal growth factor receptor 2 (HER2) (3+, n=3; 2+, n=2), GATA-binding protein 3 (3 of 5), and gross cystic disease fluid protein-15 (1 of 5), and all of which were negative for thyroid transcription factor-1, napsin A, p40, CK5/6 and p63. The residual basal/myoepithelial cells surrounding the in situ carcinoma expressed p40, CK5/6 and p63. TP53 mutation and HER2 gene amplification (3 of 5) were the most frequent genetic alterations in LSDC. All patients who underwent surgical lobectomies were alive without recurrence or metastasis.ConclusionsLSDC is a highly rare malignant tumour. The distinctive architecture of in situ carcinoma and tumour cells expressing AR can provide diagnostic indications for LSDC.

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“…An oncocytic variant of SDC having >50% components shows oncocytic changes characterized by enlarged cells with abundant eosinophilic granular cytoplasm and a centrally placed nucleus (Figure 6B). Sarcomatoid, invasive micropapillary, and rhabdoid SDC have a poorer prognosis than conventional SDC [33][34][35]. IHC shows a strong and diffuse expression of the androgen receptor (AR) is a characteristic feature of SDC (Figure 6C).…”

Section: Salivary Duct Carcinomamentioning

confidence: 99%

“…IHC shows a strong and diffuse expression of the androgen receptor (AR) is a characteristic feature of SDC (Figure 6C ). Positive staining for GATA3 (Figure 6D ) or GCDFP can also aid in the diagnosis [ 35 , 36 ]. Recent studies have shown that over 90% of SDC cases express AR.…”

Section: Reviewmentioning

confidence: 99%

Oncocytic Lesions of Salivary Glands: Morphological, Immunohistochemical, and Molecular Findings

Parmar,

Kalaria,

Patel

2024

Cureus

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The fifth edition of the World Health Organization (WHO) classification introduces new diagnostic methods based on genetic alterations, providing insight into the molecular basis of lesions. As a result, the classification system has evolved, new entities have been introduced, and existing entities have been reclassified. Oncocytic lesions of salivary glands are a group of neoplastic conditions characterized by the presence of oncocytic cells. These lesions present a diagnostic challenge due to their overlapping histological features. Therefore, a comprehensive evaluation, including morphological, immunohistochemical, and molecular analysis, is crucial for accurate diagnosis and appropriate management. Accurate classification of salivary gland pathologies is essential for selecting the appropriate treatment methods and predicting outcomes. The introduction of new therapeutic approaches, such as targeted therapies for malignant salivary gland tumors, has improved patient outcomes. However, to effectively implement these therapies in clinical practice, a clear classification of lesions is necessary.

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Salivary duct carcinoma: A case report of oncocytic variant with possible treatment implications and review of literature

Cited by 16 publications

References 30 publications

Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion

Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion

Primary salivary duct carcinoma of the lung: clinicopathological features, diagnosis and practical challenges

Oncocytic Lesions of Salivary Glands: Morphological, Immunohistochemical, and Molecular Findings

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