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Annales de Pathologie May 2024
Topics: Humans; Biomarkers, Tumor; Carcinoma, Basal Cell; Cell Differentiation; Diagnosis, Differential; Myoepithelioma; Skin Neoplasms
PubMed: 38448266
DOI: 10.1016/j.annpat.2024.02.004 -
Annals of Diagnostic Pathology Jun 2024Primary pulmonary salivary gland-type tumours (PPSGT) are rare lung neoplasms arising from submucosal seromucinous glands in the central airway.
INTRODUCTION
Primary pulmonary salivary gland-type tumours (PPSGT) are rare lung neoplasms arising from submucosal seromucinous glands in the central airway.
METHODS AND RESULTS
We retrospectively analysed the clinicopathological features of 111 PPSGTs diagnosed at our institute between 2003 and 2021. The mean age at diagnosis was 43.8 years(range 6-78 years) and a male-to-female ratio of 2:1. On imaging, 92 % of cases had centrally located tumours and 37.3 % were early stage. The histopathological types included 70 cases (63 %) of mucoepidermoid carcinoma (MEC), 31 cases (27.7 %) of adenoid cystic carcinoma (ADCC), two cases of myoepithelial carcinoma, one case each of acinic cell carcinoma (ACC), clear cell carcinoma (CCC), epithelial myoepithelial carcinoma (EMC) and 5 others [including adenocarcinoma of minor salivary gland origin(n = 3), carcinoma with sebaceous differentiation(n = 1) and poorly differentiated carcinoma of salivary gland type(n = 1)]. The size of the tumours found in the resection specimens ranged from 1 cm to 13 cm, with an average size of 4.9 cm. High-risk attributes such as lymphovascular invasion (LVI), perineural invasion (PNI), pleural involvement, positive resection margins, and nodal metastasis were identified in 15.3 %, 15.3 %, 13.6 %,15.2 % and 6.7 % of cases, respectively. These attributes were found to be more frequent in ADCC than in MEC. Surgery was the main treatment modality [68/84 (80 %) cases]. ADCC cases had more recurrence and distant metastasis than MEC cases. The 3- year overall-survival (OS) and recurrence-free survival(RFS) were better in patients with age lesser than 60 years(p-value <0.0001), low pT stage (p-value 0.00038) and lower grade of MEC(p-value-0.0067).
CONCLUSION
It is crucial to have an acquaintance with the morphologic spectrum and immunophenotypic characteristics of PPSGT to recognize them in this unusual location. In tandem, it is crucial to differentiate them from conventional primary non-small cell lung carcinoma, as the management protocols and prognostic implications differ significantly.
Topics: Humans; Male; Middle Aged; Female; Retrospective Studies; Adult; Aged; Adolescent; Lung Neoplasms; Salivary Gland Neoplasms; Young Adult; Child; Carcinoma, Mucoepidermoid; Bronchial Neoplasms; Carcinoma, Adenoid Cystic
PubMed: 38447254
DOI: 10.1016/j.anndiagpath.2024.152283 -
Journal of Surgical Case Reports Feb 2024Adenomyoepithelioma represents a rare tumor of the breast characterized by biphasic proliferation of epithelial and myoepithelial cells. Owing to its nonspecific...
Adenomyoepithelioma represents a rare tumor of the breast characterized by biphasic proliferation of epithelial and myoepithelial cells. Owing to its nonspecific clinical presentation, the rarity, and the morphological pitfalls in differential diagnosis, the diagnosis may be extremely difficult especially on limited samples such as core needle biopsy; thus, the diagnosis is histological, which is confirmed by the specificities of the immunohistochemical analyses. Here we report a case of a 64-year-old female who presented a benign adenomyoepithelioma diagnosed on core needle biopsy, review the clinicopathological features of breast adenomyoepithelioma diagnosed on core needle biopsy, and discuss the useful clues to prompt accurate diagnosis.
PubMed: 38426182
DOI: 10.1093/jscr/rjae090 -
Head and Neck Pathology Feb 2024Pleomorphic adenoma is a well-known benign salivary gland neoplasm characterized by the presence of varying proportions of three different components, including... (Review)
Review
BACKGROUND
Pleomorphic adenoma is a well-known benign salivary gland neoplasm characterized by the presence of varying proportions of three different components, including bi-layered ducts, myoepithelial cells, and admixed within a chondromyxoid/fibrous stroma.
METHOD
We report an interesting case of an adult male who presented with bleeding from an extensively degenerated parotid gland mass, concerning for a vascular neoplasm versus primary malignant tumor. Microscopically, majority of the viable tumor exhibited diffuse proliferation of spindle to epithelioid cells, with focal areas depicting cribriform glands, ducts, and scant chondromyxoid stroma.
RESULT
Next-generation sequencing (NGS) RNA-based fusion panel analysis identified a gene rearrangement involving the pleomorphic adenoma gene 1 (PLAG1), with a novel, cryptogenic fusion partner known as LINC01606; [LINC01606::PLAG1; inv(8;8)(8q12.1;8q12.1)].
CONCLUSION
To the best of our knowledge, this is the first documented case of a long non-coding RNA (lnc-RNA) serving as a rearrangement partner with the PLAG1 gene. We reviewed the molecular characteristics of this entity and explored the potential role of LINC01606::PLAG1 in the tumorigenesis of pleomorphic adenoma.
Topics: Adult; Male; Humans; Adenoma, Pleomorphic; DNA-Binding Proteins; Salivary Gland Neoplasms; Gene Rearrangement; RNA
PubMed: 38393488
DOI: 10.1007/s12105-024-01612-x -
Journal of Oral Biosciences Jun 2024Immunohistochemical methods were employed to investigate the morphological heterogeneity and localization of fibroblasts associated with the function of major salivary...
OBJECTIVES
Immunohistochemical methods were employed to investigate the morphological heterogeneity and localization of fibroblasts associated with the function of major salivary glands in rats.
METHODS
Histochemical and electron microscopic observations were made in rat parotid, submandibular, and sublingual glands and pancreas. Fibroblasts were immunostained using their specific marker, 47 kDa heat shock protein (Hsp47).
RESULTS
Hsp47-immunopositive fibroblasts within the intralobular connective tissue exhibited a notably smaller size compared with the interlobular connective tissue. They were loosely distributed throughout the connective tissue. However, fibroblasts with elongated long processes were explicitly identified at the intercalated ducts in parotid, sublingual, and submandibular glands. Fibroblastic bodies and processes were tightly approximated with the basement membrane of the duct. Electron microscopy confirmed these findings, revealing a thin layer consisting of collagen fibers was found between the fibroblasts and the basement membrane. Double staining of Hsp47 and α-smooth muscle actin (αSMA) in parotid glands indicating that Hsp47-positive fibroblasts enveloped both the duct and αSMA-positive myoepithelial cells. Additionally, They projected long and thin processes longitudinally at the straight portion or circularly at the bifurcated portion of the duct. The three-dimensional reconstruction showed a frame-like structure of fibroblasts surrounding the intercalated duct with longitudinal myoepithelial cells. However, such specific localization of fibroblasts was not detected in the exocrine pancreas lacking myoepithelium.
CONCLUSIONS
Small fibroblasts with long processes connecting or overwrapping each other and thin collagen layers surround the intercalated ducts in rat major salivary glands, presumably contributing to protecting the ducts from salivary flow and myoepithelial contraction.
Topics: Animals; Fibroblasts; Rats; Salivary Glands; Salivary Ducts; HSP47 Heat-Shock Proteins; Male; Submandibular Gland; Immunohistochemistry; Rats, Wistar; Parotid Gland; Sublingual Gland; Actins
PubMed: 38382878
DOI: 10.1016/j.job.2024.02.004 -
Gynecologic Oncology Jun 2024Adenoid cystic carcinoma (AdCC) of the Bartholin's gland (AdCC-BG) is a very rare gynecologic vulvar malignancy. AdCC-BGs are slow-growing but locally aggressive and are...
OBJECTIVE
Adenoid cystic carcinoma (AdCC) of the Bartholin's gland (AdCC-BG) is a very rare gynecologic vulvar malignancy. AdCC-BGs are slow-growing but locally aggressive and are associated with high recurrence rates. Here we sought to characterize the molecular underpinning of AdCC-BGs.
METHODS
AdCC-BGs (n = 6) were subjected to a combination of RNA-sequencing, targeted DNA-sequencing, reverse-transcription PCR, fluorescence in situ hybridization (FISH) and MYB immunohistochemistry (IHC). Clinicopathologic variables, somatic mutations, copy number alterations and chimeric transcripts were assessed.
RESULTS
All six AdCC-BGs were biphasic, composed of ductal and myoepithelial cells. Akin to salivary gland and breast AdCCs, three AdCC-BGs had the MYB::NFIB fusion gene with varying breakpoints, all of which were associated with MYB overexpression by IHC. Two AdCC-BGs were underpinned by MYBL1 fusion genes with different gene partners, including MYBL1::RAD51B and MYBL1::EWSR1 gene fusions, and showed MYB protein expression. Although the final AdCC-BG studied had MYB protein overexpression, no gene fusion was identified. AdCC-BGs harbored few additional somatic genetic alterations, and only few mutations in cancer-related genes were identified, including GNAQ, GNAS, KDM6A, AKT1 and BCL2, none of which were recurrent. Two AdCC-BGs, both with a MYB::NFIB fusion gene, developed metastatic disease.
CONCLUSIONS
AdCC-BGs constitute a convergent phenotype, whereby activation of MYB or MYBL1 can be driven by the MYB::NFIB fusion gene or MYBL1 rearrangements. Our observations further support the notion that AdCCs, irrespective of organ site, constitute a genotypic-phenotypic correlation. Assessment of MYB or MYBL1 rearrangements may be used as an ancillary marker for the diagnosis of AdCC-BGs.
Topics: Humans; Carcinoma, Adenoid Cystic; Female; Vulvar Neoplasms; Bartholin's Glands; Middle Aged; Oncogene Proteins, Fusion; Trans-Activators; Proto-Oncogene Proteins c-myb; Gene Rearrangement; Adult; Aged; Proto-Oncogene Proteins
PubMed: 38368814
DOI: 10.1016/j.ygyno.2024.02.015 -
Indian Journal of Pathology &... 2024Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among...
Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination. Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination.
Topics: Female; Humans; Phyllodes Tumor; Neoplasm Recurrence, Local; Fibrocystic Breast Disease; Epithelial Cells; Hyperplasia; Cell Transformation, Neoplastic; Breast Neoplasms; Myoepithelioma
PubMed: 38358228
DOI: 10.4103/ijpm.ijpm_925_22 -
World Journal of Gastroenterology Jan 2024Esophageal intramural pseudodiverticulosis (EIPD) is a disease of unknown pathogenesis characterized by usually systemic, cystic dilatation of the excretory ducts of... (Review)
Review
Esophageal intramural pseudodiverticulosis (EIPD) is a disease of unknown pathogenesis characterized by usually systemic, cystic dilatation of the excretory ducts of esophageal submucosal glands. In this article, I review the epidemiology, clinical manifestations, endoscopic findings, esophagographic findings, and histopathology of EIPD. I also discuss the etiology and possible pathogenesis of EIPD based on my experiences with this disease and a review of the literature. EIPD usually presents with dysphagia in middle-aged individuals. It is often complicated with secondary infections, most commonly candidiasis. On esophagography, EIPD is delineated as small, multiple, flask-shaped outward projections within the esophageal wall. In recent years, EIPD has been mainly diagnosed by endoscopic findings of multiple, localized, small mucosal depressions. The orifices of the "pseudodiverticula" periodically open and close, and excrete mucus onto the mucosal surface. On histopathological examination, the luminal surface of dilated ducts in EIPD is covered by multilayered, hyperplastic epithelial cells, but myoepithelial cells in the glandular acini are well preserved. Treatment of EIPD is usually symptomatic therapy, and prevention of the infectious complications is important. The etiology and pathogenesis of EIPD are largely unknown, but functional abnormalities of autonomic nerve fibers innervating the esophageal glands likely play an important role, since the structures of the glands are basically preserved in this disease.
Topics: Middle Aged; Humans; Diverticulum, Esophageal; Deglutition Disorders; Diverticulum; Mucous Membrane; Esophageal Stenosis
PubMed: 38312118
DOI: 10.3748/wjg.v30.i2.137 -
Cureus Jan 2024Sclerosing odontogenic carcinoma (SOC) is an exceedingly rare odontogenic carcinoma known for its locally aggressive yet indolent behavior. There have been no reports of...
Sclerosing odontogenic carcinoma (SOC) is an exceedingly rare odontogenic carcinoma known for its locally aggressive yet indolent behavior. There have been no reports of metastasis to distant organs, except a single case involving lymph node metastasis. This report details the case of a 49-year-old female who presented with a well-demarcated radiolucent lesion in the mandible, accompanied by root resorption and tooth displacement. Microscopically, the lesion exhibited a distinctive composition, with two distinct components: cords of epithelium embedded within an abundant collagenous stroma and solid nests of clear polygonal cells surrounded by hyalinized stroma. Notably, the tumor exhibited direct invasion into the submental muscles, accompanied by perineural and vascular invasion, as well as cortical bone loss. Additionally, the clear cells contained diastase-sensitive periodic acid-Schiff-positive granules. Immunohistochemically, the tumor cells displayed positivity for cytokeratin 19 and p63 while testing negative for myoepithelial markers. The Ki-67 index was measured at 23%. Importantly, neither nor rearrangements were detected through fluorescence in situ hybridization (FISH) analysis. Over several years, this patient experienced three instances of local recurrence; notably, four years after the initial surgery, fludeoxyglucose F18-positron emission tomography (18FDG-PET)/CT scans confirmed the presence of pulmonary metastasis. This case presents an unusual histological variation of SOC, marked by vascular invasion, and is notably the first documented case of a fatal outcome in this context.
PubMed: 38298294
DOI: 10.7759/cureus.51429 -
Breast Cancer Research : BCR Jan 2024Human epidermal growth factor receptor 2 (HER2)-positive breast cancer accounts for about 20% of all breast cancer cases and is correlated with a high relapse rate and...
BACKGROUND
Human epidermal growth factor receptor 2 (HER2)-positive breast cancer accounts for about 20% of all breast cancer cases and is correlated with a high relapse rate and poor prognosis. ADAMTS18 is proposed as an important functional tumor suppressor gene involved in multiple malignancies, including breast cancer. It functions as an extracellular matrix (ECM) modifier. However, it remains unclear whether ADAMTS18 affects mammary tumorigenesis and malignant progression through its essential ECM regulatory function.
METHODS
To elucidate the role of ADAMTS18 in HER2-positive mammary tumorigenesis and metastasis in vivo, we compared the incidence of mammary tumor and metastasis between Adamts18-knockout (MMTV)-Her2/ErbB2/Neu transgenic mice (i.e., Her2/Adamts18) and Adamts18-wildtype (MMTV)-Her2/ErbB2/Neu transgenic mice (i.e., Her2/Adamts18). The underlying mechanisms by which ADAMTS18 regulates HER2-positive tumorigenesis and metastasis were investigated by pathology, cell culture, Western blot and immunochemistry.
RESULTS
Adamts18 mRNA is mainly expressed in myoepithelial cells of the mammary duct. ADAMTS18 deficiency leads to a significantly increased incidence of mammary tumors and metastasis, as well as mammary hyperplasia in mice, over 30 months of observation. The proliferation, migration and invasion capacities of primary Her2/Adamts18 mammary tumor cells are significantly higher than those of primary Her2/Adamts18 mammary tumor cells in vitro. At 30 months of age, the expression levels of laminin (LNα5), fibronectin (FN) and type I collagen (ColI) in the mammary glands of Her2/Adamts18 mice are significantly increased, and the activities of integrin-mediated PI3K/AKT, ERK and JNK signaling pathways are enhanced.
CONCLUSIONS
ADAMTS18 deficiency leads to alterations in mammary ECM components (e.g., LNα5, FN, ColI), which are associated with a higher risk of HER2-positive mammary tumorigenesis and metastasis.
Topics: Mice; Humans; Animals; Female; Breast Neoplasms; Phosphatidylinositol 3-Kinases; Neoplasm Recurrence, Local; Cell Transformation, Neoplastic; Receptor, ErbB-2; Mice, Transgenic; Carcinogenesis; Mammary Neoplasms, Animal; Extracellular Matrix; ADAMTS Proteins
PubMed: 38287441
DOI: 10.1186/s13058-024-01771-3