NKX3.1 Expression and Molecular Characterization of Secretory Myoepithelial Carcinoma (SMCA): Advancing the Case for a Salivary Mucous Acinar Phenotype

Patel, Simmi; Wald, Abigail I.; Bastaki, Jassem M.; Chiosea, Simon I.; Singhi, Aatur D.; Seethala, Raja R.

doi:10.1007/s12105-023-01524-2

Cited by 4 publications

(2 citation statements)

References 35 publications

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“…NKX3.1 is an androgen-regulated tumor suppressor gene, that has been used as specific of prostatic origin; however, some breast carcinomas are also positive for this factor, 13,14 and some †The technique is not described in this article, but the authors cite this work as using a 50-gene panel in their subsequent work. salivary-type glands [15][16][17] ; we show that it is rarely expressed by PH tumor cells. CK14 is a high-molecular-weight basal cytokeratin shown to be useful in distinguishing breast papillary lesions, because it is generally positive in benign, but not in atypical or malignant lesions.…”

Section: Discussionmentioning

confidence: 99%

Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas

Karpathiou,

Sim,

Picot

et al. 2023

The American Journal of Dermatopathology

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Background: Papillary hidradenomas (PHs) of the anogenital region are uncommon tumors whose immunohistochemical and molecular profile have been infrequently studied. Material and methods: We studied 15 PHs by next-generation sequencing and 10 immunohistochemical markers (PAX8, GATA3, HER2, MSH6, PMS2, estrogen, progesterone and androgen receptors, CK14, and NKX3.1). Results: All cases expressed GATA3, whereas none expressed PAX8, and rare tumor cells were NKX3.1-positive. Almost all cases expressed estrogen receptors (ER), progesteron receptors (PR), and androgen receptors (AR). CK14 was expressed by myoepithelial cells, whereas only rarely by the epithelial tumor cells. HER2 showed no significant expression. Immunohistochemical expression for the mismatch repair proteins showed persistence in all cases. Molecular analysis often showed PIK3CA mutations, as well as KRAS, SMO, and MAP2K1 mutations. Conclusion: Anogenital PHs frequently harbor PIK3CA mutations and show a PAX8-, GATA3/ER/PR/AR + immunohistochemical profile.

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Section: Discussionmentioning

confidence: 99%

Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas

Karpathiou,

Sim,

Picot

et al. 2023

The American Journal of Dermatopathology

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“…Additionally, hyalinising clear cell carcinoma (HCCC) subtype demonstrate similar genetic signatures (50,51). In conjunction, another genetic analysis in secretory myoepithelial carcinomas (SMCA) -a very rare, signet ringlike mucinous carcinoma with a myoepithelial componentrevealed very specific and unique PTEN mutation and splicing variant (c.655C>T p. Q219*, and c.1026+1G>A p. K342, respectively) (52). Similarly, a unique PTEN frameshift deletion (p. G36Dfs*18) has been detected in salivary gland intraductal papillary mucinous neoplasm (SG IPMN), a rare variant of SGC (53).…”

Section: Pten Alterations In Sgcsmentioning

confidence: 95%

PTEN Deregulation Mechanisms in Salivary Gland Carcinomas

PAPANIKOLAOU,

CHRYSOVERGIS,

ADAMOPOULOU

et al. 2024

CDP

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Among the tumour suppressor genes that affect critically cell functions and homeostasis, phosphatase and tensin homolog deleted in chromosome 10 (PTEN- gene locus: 10q21) regulates the PI3K/Akt/mTOR signalling pathway. PTEN is deleted, mutated or epigenetically hyper-methylated in a variety of human solid malignancies. Salivary gland carcinomas (SGCs) belong to the head and neck carcinomas (HNCs) super category of solid malignancies. Histo-pathologically, they demonstrate a significant diversity due to a variety of distinct and mixed subtypes. Genetically, they are characterized by a broad spectrum of gene and chromosomal imbalances. Referring specifically to suppressor genes, PTEN deregulation plays a critical role in signaling transduction in the corresponding SGC pre- and malignant epithelia modifying the response rates to potential targeted therapeutic strategies. In the current review, we explored the role of PTEN deregulation mechanisms that are involved in the onset and progression of SGCs.

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Mucin-rich salivary gland tumors

Bishop

2024

Seminars in Diagnostic Pathology

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NKX3.1 Expression and Molecular Characterization of Secretory Myoepithelial Carcinoma (SMCA): Advancing the Case for a Salivary Mucous Acinar Phenotype

Cited by 4 publications

References 35 publications

Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas

Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas

PTEN Deregulation Mechanisms in Salivary Gland Carcinomas

Mucin-rich salivary gland tumors

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