Low-grade non-intestinal-type sinonasal adenocarcinoma: a histologically distinctive but molecularly heterogeneous entity

Rooper, Lisa M.; Thompson, Lester D.�R.; Gagan, Jeffrey; Hwang, Jacqueline Siok Gek; London, Nyall R.; Mikula, Michael W.; Stevens, Todd M.; Bishop, Justin A.

doi:10.1038/s41379-022-01068-w

Cited by 16 publications

(3 citation statements)

References 42 publications

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“…In addition to the analogous morphology and genetic background, these tumors also show a similar immunohistochemical profile. The low-grade tumors are positive for both S-100 and SOX10 or at least one of these markers in the case reported by Rooper et al [ 16 ]. Cytokeratin 7 was positive in all cases.…”

Section: Discussionmentioning

confidence: 76%

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High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology

Klubíčková,

Mosaieby,

Ptáková

et al. 2023

Virchows Arch

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We report 2 cases of high-grade sinonasal adenocarcinoma with a distinct morphological and immunohistochemical phenotype. Albeit histologically different from secretory carcinoma of the salivary glands, both tumors presented here share an ETV6::NTRK3 fusion. The highly cellular tumors were composed of solid and dense cribriform nests, often with comedo-like necroses in the center, and minor areas with papillary, microcystic, and trabecular formations without secretions, mostly located at the periphery of the lesion. The cells displayed high-grade features, with enlarged, crowded, and often vesicular nuclei with conspicuous nucleoli and brisk mitotic activity. The tumor cells were immunonegative for mammaglobin while showing immunopositivity for p40/p63, S100, SOX10, and GATA3, as well as for cytokeratins 7, 18, and 19. For the first time, we describe 2 cases of primary high-grade non-intestinal type adenocarcinomas of the nasal cavity, distinct from secretory carcinoma by morphology and immunoprofile, harboring the ETV6::NTRK3 fusion.

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Section: Discussionmentioning

confidence: 76%

“…GATA3 was negative in 2/3 analyzed cases. The markers p40/p63 were tested in only one low-grade case and were negative [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology

Klubíčková,

Mosaieby,

Ptáková

et al. 2023

Virchows Arch

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“…Moreover, other sinonasal tumors, including squamous cell carcinoma, intestinal-type adenocarcinoma, and non-intestinal-type adenocarcinoma, harbor substantial molecular variability despite well-defined histologic features. 35,[42][43][44][45] Regardless of their heterogenous genetic underpinnings, all TCS in this series fell within a discrete histologic spectrum with the diagnostic neuroepithelial, epithelial, and mesenchymal components.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Molecular Profiling of Sinonasal Teratocarcinosarcoma Highlights Recurrent SMARCA4 Inactivation and CTNNB1 Mutations

Rooper

Agaimy

Gagan

et al. 2022

American Journal of Surgical Pathology

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Sinonasal teratocarcinosarcoma (TCS) is a rare tumor defined by intermixed neuroepithelial, mesenchymal, and epithelial elements. While its etiology was historically ambiguous, we recently reported frequent SMARCA4 loss by immunohistochemistry, suggesting that TCS might be related to SMARCA4-deficient sinonasal carcinomas. However, other molecular alterations including CTNNB1 mutation have been reported in TCS, and its full genetic underpinnings are unclear. Here, we performed the first comprehensive molecular analysis of sinonasal TCS to better understand its pathogenesis and classification. We collected 30 TCS including 22 cases from our initial study. Immunohistochemical loss of SMARCA4 was seen in 22 cases (73%), with total loss in 18 cases (60%). β-catenin showed nuclear localization in 14 cases (64%) of the subset tested. We selected 17 TCS for next-generation sequencing with enrichment for partial or intact SMARCA4 immunoexpression. We identified inactivating SMARCA4 mutations in 11 cases (65%) and activating CTNNB1 mutations in 6 cases (35%), including 5 cases with both. Of 5 cases that lacked SMARCA4 or CTNNB1 mutation, 2 harbored other SWI/SNF complex and Wnt pathway alterations, including 1 with SMARCB1 inactivation and 1 with concomitant APC and ARID1A mutations, and 3 had other findings, including DICER1 hotspot mutation. These findings confirm that SMARCA4 inactivation is the dominant genetic event in sinonasal TCS with frequent simultaneous CTNNB1 mutations. They further underscore a possible relationship between TCS and sinonasal carcinomas with neuroendocrine/neuroectodermal differentiation. However, while SMARCA4 and β-catenin immunohistochemistry may help confirm a challenging diagnosis, TCS should not be regarded as a molecularly defined entity.

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Non-intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses: an analysis of clinical characteristics and prognosis

Zhou,

Zhao,

Feng

et al. 2024

Eur Arch Otorhinolaryngol

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Low-grade non-intestinal-type sinonasal adenocarcinoma: a histologically distinctive but molecularly heterogeneous entity

Cited by 16 publications

References 42 publications

High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology

High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology

Comprehensive Molecular Profiling of Sinonasal Teratocarcinosarcoma Highlights Recurrent SMARCA4 Inactivation and CTNNB1 Mutations

Non-intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses: an analysis of clinical characteristics and prognosis

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