Sclerosing Polycystic “Adenosis” of Salivary Glands: A Neoplasm Characterized by PI3K Pathway Alterations More Correctly Named Sclerosing Polycystic Adenoma

Bishop, Justin A.; Gagan, Jeffrey; Baumhoer, Daniel; McLean-Holden, Anne C.; Oliai, Bahram R.; Couce, Marta; Thompson, Lester D.�R.

doi:10.1007/s12105-019-01088-0

Cited by 60 publications

(51 citation statements)

References 26 publications

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“…Five of six cases were subjected to targeted RNA sequencing for fusions, as previously described 16 . Briefly, whole‐slide tissue sections were cut at 10 μm, and Qiagen AllPrep kits (Qiagen, Germantown, MD, USA) were used for RNA isolation.…”

Section: Methodsmentioning

confidence: 99%

Oncocytic intraductal carcinoma of salivary glands: a distinct variant with TRIM33–RET fusions and BRAF V600E mutations

et al. 2021

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Aims Salivary gland intraductal carcinoma (IDC) is a complex ductal neoplasm surrounded by a layer of myoepithelial cells. Recent insights have shown that there are three different types: intercalated duct‐like, with frequent NCOA4–RET fusions; apocrine, with salivary duct carcinoma‐like mutations; and mixed intercalated duct‐like/apocrine, with RET fusions, including TRIM27–RET. In addition, an oncocytic IDC has been described, but it remains unclear whether it represents a fourth variant or simply oncocytic metaplasia of another IDC type. Our aim was to more completely characterize oncocytic IDC. Methods and results Six IDCs with oncocytic changes were retrieved from the authors’ archives, from three men and three women ranging in age from 45 to 75 years (mean, 63 years). Five arose in the parotid gland, with one in an accessory parotid gland. Four patients with follow‐up were free of disease after 1–23 months. Several immunostains (S100, mammaglobin, androgen receptor, and p63/p40) and molecular tools (RNA sequencing, RET fluorescence in‐situ hybridisation, BRAF V600E VE1 immunohistochemistry, and Sanger sequencing) were applied. Histologically, the tumours were variably cystic with solid intracystic nodules often difficult to recognise as intraductal. In all, tumour ducts were positive for S100 and mammaglobin, negative for androgen receptor, and completely surrounded by myoepithelial cells positive for p63/p40. Molecular analysis revealed TRIM33–RET in two of six cases, NCOA4–RET in one of six cases, and BRAF V600E in two of six cases. One case had no identifiable alterations. Conclusions Oncocytic IDC shares similarities with intercalated duct‐like IDC. Although additional verification is needed, the oncocytic variant appears to be sufficiently unique to be now regarded as the fourth distinct subtype of IDC. Because of its indolent nature, oncocytic IDC should be distinguished from histological mimics.

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Section: Methodsmentioning

confidence: 99%

Oncocytic intraductal carcinoma of salivary glands: a distinct variant with TRIM33–RET fusions and BRAF V600E mutations

et al. 2021

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“…To the best of our knowledge, it seems to be the first time that a Chinese SPA case arising from the submandibular gland is being reported. Seven cases occurring in the submandibular gland are summarized in Table 1 [ 1 , 2 , 7 , 8 ]. The patients’ age range was from 28 to 69 without apparent differences in gender.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, a study of the X-chromosome inactivation pattern by Skálová et al [ 15 ] demonstrated the clonality in six SPA cases, suggesting that SPA cells are clonal[ 15 ]. In addition, Bishop et al [ 8 ] investigated the genetic characteristics of four SPA cases through targeted next-generation sequencing. Genetic alterations in the phosphatidylinositol 3-kinase pathway, which is recurrently mutated in a variety of tumor types, were observed in all the four cases.…”

Section: Discussionmentioning

confidence: 99%

“…Genetic alterations in the phosphatidylinositol 3-kinase pathway, which is recurrently mutated in a variety of tumor types, were observed in all the four cases. Among the genetic mutations, phosphatase and tensin homolog (PTEN) mutations were seen most frequently, and PTEN protein expression lost in the ductal and acinar elements was confirmed by immunohistochemistry[ 8 ]. In summary, SPA might be a neoplasm and not just a reactive process.…”

Section: Discussionmentioning

confidence: 99%

“…Although the number of recurrent cases was insufficient for statistical analysis, the results suggested that recurrence appears to be due to inadequate surgical excision and the multifocality of SPA as opposed to true recurrence. Notably, among the seven SPA cases of the submandibular gland, two cases were lost during follow-up; of the remaining five cases, none had a recurrence, and even the presence of ductal dysplasia was described in two of the five cases[ 1 , 2 , 7 , 8 ]. Similar to that found in SPA of the submandibular gland, no recurrence has been reported in cases of SPA in the minor salivary glands[ 4 - 6 ].…”

Section: Discussionmentioning

confidence: 99%

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Sclerosing polycystic adenosis of the submandibular gland: Two case reports

Wang

et al. 2021

WJCC

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BACKGROUND Sclerosing polycystic adenosis (SPA) is a rare disease of salivary glands, similar to fibrocystic disease of the breast. It occurs over a wide age range and exhibits a slight female preference. Most SPA cases have occurred in the parotid gland. The exact nature of SPA is unclear, but its tumor nature has recently been proposed. Although SPA has a good prognosis after adequate surgery, atypical lesions might occur, ranging from mild dysplasia to carcinoma in situ in some cases. To the best of our knowledge, only five cases of SPA in the submandibular gland have been reported to date. Here, we present two new cases of SPA involving the submandibular gland. CASE SUMMARY A 50-year-old woman and a 52-year-old woman were referred to Tongji Hospital in Wuhan, China, with complaints of moderate pain, recurrent swelling, and a mass in the submandibular area. After admission, the two cases of the submandibular mass were examined physically. The boundary of the submandibular tumor was clear, and the range of motion was good. After preoperative examinations, surgery was performed on a selective basis. Postoperative histopathological examination revealed a well-defined mass with acinar structures, ducts, or cystic dilated glands of various sizes scattered in a large number of proliferative sclerosing stroma. There were flat and cuboidal cells, and eosinophils in the duct epithelium. There was also a eosinophilic substance in the lumen of dilated cysts. No atypical epithelial hyperplasia, invasive growth, or carcinoma in situ was found. Based on the above findings, the mass was diagnosed as SPA. Both patients have remained asymptomatic and no recurrence or distant metastasis had occurred by the 7-mo and 5-year follow-up, respectively. CONCLUSION SPA is a rare disease of the salivary gland. Even though it has a good prognosis after adequate surgery, atypical lesions may occur from mild dysplasia to carcinoma in situ . However, no recurrence, distant metastasis, or mortality has been reported for submandibular gland SPA. Clinicians and pathologists should be familiar with the characteristics of SPA in the submandibular gland to avoid misdiagnosis and overtreatment.

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