Epidermoid Metaplasia Research Articles

A case of esophageal squamous cell carcinoma with epidermization showing a unique morphology.

An 80-year-old woman with a history of endoscopic balloon dilation for esophageal stricture caused by accidental ingestion of caustic soda during infancy presented with dysphagia. Upper gastrointestinal endoscopy revealed a 10-cm-long, highly white, elevated lesion with a feathered appearance. This lesion was determined to be the cause of dysphagia and was completely resected via endoscopic submucosal dissection. Histopathological examination revealed a thick keratin layer on the surface of the stratified squamous epithelium, with a prominent granular layer underneath and some areas showing nuclear atypia. The lesion was diagnosed as a well-differentiated squamous cell carcinoma, pT1a-LPM, derived from epidermoid metaplasia. Cancer genome analysis revealed mutations in TP53 as well as amplification of MYC, FGFR1, chromosome 7, and chromosome 20q. This case suggests that epidermoid metaplasia caused by chronic irritation from an esophageal stricture may have been exacerbated by the dilation procedure.

S3270 Scoping the Uncommon: Esophageal Epidermoid Metaplasia as a Premalignant Phenomenon

S3270 Scoping the Uncommon: Esophageal Epidermoid Metaplasia as a Premalignant Phenomenon

352. A RARE CASE OF ESOPHAGEAL EPIDERMOID METAPLASIA: A POTENTIAL PRECURSOR TO ESOPHAGEAL MALIGNANCY

Abstract A 62-year-old woman with medical history of fibromyalgia and depression was referred to the gastroenterology consultation due to dysphagia for solids for the past 3 months. She had previously performed an upper endoscopy which revealed an esophageal lesion, interpreted as a papillomatous lesion. Upper endoscopy was repeated, showing a whitish, irregular, semi-elevated and hemi-circumferential lesion between 16 and 19cm from the incisors (Figure A and B). Biopsies were performed. Histology revealed a stratified squamous epithelium with mild inflammation, with spongiosis, hyperorthokeratosis and a prominent granular cell layer. This was consistent with esophageal epidermoid metaplasia (Figures C and D). No dysplasia or carcinoma was noted. Esophageal epidermoid metaplasia is a rare condition described only in case reports and small series. It is thought that may be sporadically associated with esophageal squamous cell carcinoma. Endoscopically, this entity might have different appearances such as white plaques, altered texture, keratotic patches, sloughing, granularity, nodularity, furrows, decreased vascularity, and lacy appearance. We report this case to raise awareness for this entity and its association with dysplasia and esophageal cancer. Therefore, in the case of esophageal epidermoid metaplasia lesions a close follow-up or endoscopic treatment may be warranted. Patient is currently on endoscopic surveillance every one year to screen for early dysplasia.

Clinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.

Esophageal squamous cell carcinoma (ESCC) remains the most common malignancy of the esophagus worldwide. Environmental and lifestyle exposures such as alcohol and tobacco have been well defined in the pathogenesis of ESCC, acting in concert with cell intrinsic epigenomic, genomic and transcriptomic changes. However, a variety of nonenvironmental etiologies including Fanconi anemia, lichen planus, chronic mucocutaneous candidiasis, esophageal epidermoid metaplasia, epidermolysis bullosa, tylosis, esophageal atresia, and achalasia receive minimal attention despite a high risk of ESCC in these diseases. The goal of this review was to promote clinical recognition and suggest a diagnostic framework for earlier detection of ESCC in patients with these rare diseases. In all the discussed conditions, a change in symptoms should trigger a prompt endoscopic evaluation, and endoscopic surveillance programs with advanced imaging techniques and chromoendoscopy should be considered. Moreover, we leverage the convergence of these diseases on ESCC to identify common mechanisms underlying malignant transformation including aberrant proliferation, mucosal barrier dysfunction, increased inflammation, and genome instability. In this study, we summarize the clinical presentation, pathologic findings, potential screening strategies, and common mechanisms of malignant transformation associated with these rare diseases that drive ESCC.

A209 ESOPHAGEAL EPIDERMOID METAPLASIA: ADVOCATING FOR A PRIMARY ENDOSCOPIC SUBMUCOSAL DISSECTION APPROACH

Abstract Background Esophageal epidermoid metaplasia (EM), or leukoplakia, is a rare finding on endoscopy; typically seen incidentally as a white plaque and histologically characterized by orthokeratosis. The link between EM and squamous neoplasia has been identified. There is no consensus on the management of EM. Aims To present a case of circumferential esophageal EM managed with endoscopic submucosal dissection (ESD). Methods Case report and review of the literature Results A 56-year-old female with a known history of EM was referred for consideration of ESD due to dysplastic progression confirmed on histopathology. Previous attempts at eradication included argon plasma coagulation and staged band mucosectomy. Fully circumferential ESD was performed over a 100mm segment in the mid esophagus using the double tunnel technique. Histopathology revealed multifocal low-grade squamous intraepithelial neoplasia within epidermoid metaplasia with negative margins. Conclusions Esophageal epidermoid metaplasia may increase the risk of squamous cell carcinoma. There are no consensus recommendations regarding its management with previous described strategies including surveillance and eradication with radiofrequency ablation and band mucosectomy. ESD for epidermoid metaplasia has not been described; however, given the overall efficacy, efficiency, safety and now widespread availability of this technique a primary ESD approach should be considered. Funding Agencies None

S2042 Successful Eradication of Esophageal Epidermoid Metaplasia by Radiofrequency Ablation

S2042 Successful Eradication of Esophageal Epidermoid Metaplasia by Radiofrequency Ablation

Esophageal Epidermoid Metaplasia: Clinical Characteristics and Risk of Esophageal Squamous Neoplasia.

Esophageal epidermoid metaplasia (EEM) is a rare disease. Patients with EEM diagnosed between 2014 and 2020 were reviewed. Forty EEM cases were identified. EEM occurred in 9 (23%) patients before, concordant, or after esophageal squamous cell carcinoma (ESCC). EEM was associated with previous esophageal lichen planus in 5 patients, Barrett's esophagus 7, and esophageal adenocarcinoma 1. EEM was focal in 28 (70%) or diffuse in 12 (30%) and not detected in 45% on recent previous endoscopy. EEM is a premalignant underrecognized condition associated with multiple conditions. Close follow-up or endoscopic treatment may be warranted because of its ESCC association.

Some Morphology Frontiers of Dysplasia in the Tubular Gastrointestinal Tract: The Rodger C. Haggitt Memorial Lecture.

This review, based on the content of the 2020 US Gastrointestinal Pathology Society's Rodger Haggitt Lecture, concerns an array of tubular gastrointestinal tract dysplastic or possible "predysplastic lesions" with an almost purely morphologic focus based on our collaborative efforts over the past few years. These processes include esophageal epidermoid metaplasia, Barrett esophagus-associated dysplasia, polypoid gastric dysplastic lesions, small intestinal dysplasia, and the ability of metastases to mimic it, the controversial "serrated epithelial change" encountered in the setting of long-standing ulcerative and Crohn colitis, and recently described anal columnar human papilloma virus-associated neoplasms.

S1895 A Case of Esophageal Epidermoid Metaplasia in a Patient With Recurrent Esophageal Strictures

S1895 A Case of Esophageal Epidermoid Metaplasia in a Patient With Recurrent Esophageal Strictures

S1912 Cobblestone Esophagus With a Well Known Chaperone: A Case of Epidermoid Metaplasia Associated With Squamous Cell Carcinoma

S1912 Cobblestone Esophagus With a Well Known Chaperone: A Case of Epidermoid Metaplasia Associated With Squamous Cell Carcinoma

Glandular and Cystic Bladder Cystitis: Case Report and Review of the Literature

Glandular-cystic bladder cystitis is a rare, benign non-tumor condition, preferentially located on the area of the bladder trigone and can simulate a malignant tumor. It is a benign reactive metaplasia of the bladder submucosa, characterized by hyperplasia of the islets of Von Brunn and cystic. It is classified among reactive epithelial anomalies of the urothelium, such as islet hyperplasia of Von Brünn, cystitis, glandular cystitis, nephrogenic metaplasia and epidermoid metaplasia. It presents a clinical diagnostic challenge having the expression of a simple recurrent cystitis and misleading the radiological diagnosis evoking a malignant tumor of the bladder. Its certainty diagnosis is histological. We report the case of a 38-year-old young man who consulted for recurrent cystitis. The CT scan showed a vegetative tissue structure of the middle and left medial vesical floor, sawtooth 3 cm long axis suspecting a tumor of the bladder. The patient underwent transurethral resection of the bladder lesion. The histological and immunohistochemical examination concluded with glandular and cystic cystitis (minor form). In the light of this observation, we will discuss the diagnostic difficulties, the pathophysiological mechanisms, the radiological aspects, the anatomopathological, therapeutic features and the prognosis of this rare condition. The literature regarding this entity has been reviewed and the differential diagnosis was discussed.

1756 Evolution of Esophageal Lichen Planus to Esophageal Leukoplakia

INTRODUCTION: To describe a case of esophageal lichen planus which appeared to evolve to leukoplakia (aka epidermoid metaplasia). CASE DESCRIPTION/METHODS: A 70 yo female with a prior history of lichen planus, presented from another institution for ongoing care related to proximal esophageal stricturing. The patient had well-documented lichen planus involving the oral and vaginal mucosae and axillary areas. Dysphagia had been ongoing for greater than a decade and prior endoscopic exams revealed the proximal esophagus to be of small caliber with proximal esophageal strictures/rings. Biopsies had shown nonspecific change. On some occasions an ultrathin gastroscope was required to traverse the proximal esophagus. The patient underwent numerous sessions of Savary dilation and given oral lichen planus, it was assumed that this process was also responsible for the proximal esophageal pathology. She was treated with periodic esophageal dilation and topical budesonide. Recently after the above therapy, dysphagia had resolved, and the patient was ingesting a normal diet. The esophagus was found to be of more normal caliber endoscopically (strictures were no longer evident) and prominent whitish proximal esophageal plaques were now noted (Figure 1). Proximal esophageal biopsies now revealed hyperorthokeratosis with hypergranulosis, but no inflammatory process or Civatte bodies (apoptotic keratinocytes). As such, recent endoscopic and pathologic findings were thought to be most consistent with esophageal leukoplakia/epidermoid metaplasia. Topical budesonide was continued for her oral lichen planus, but it was now recommended that it be administered in a "swish and spit" manner. Given the association of esophageal leukoplakia with squamous dysplasia and squamous cell carcinoma, the patient was placed in an endoscopic surveillance program. She has recently remained asymptomatic from the esophageal perspective. DISCUSSION: Lichen planus and leukoplakia (epidermoid metaplasia) involving the esophagus are distinct clinical, endoscopic and pathologic processes- both of which appear to have a female predominance, and potential association with squamous cell carcinoma. The esophageal disease in patient under discussion appeared to evolve from one of these processes to the other, raising the specter of an association between these disorders.

1838 Esophageal Leukoplakia

INTRODUCTION: Epidermal metaplasia is a histological correlate to a white patch on the surface of a mucous membrane that cannot be rubbed off, known as leukoplakia. It is a common finding in oral mucosa, however rare in esophageal mucosa. Etiology of this condition in the esophagus is unclear, thought to be associated with esophageal tobacco and alcohol exposure or possibly an unusual response to chronic acid reflux. In contrast to oral leukoplakia there is a female predominance. Although generally asymptomatic, symptom presentation can include dysphagia. Endoscopic features include slightly elevated whitish surface, which can be translucent or cobblestone-like in appearance. The natural history is unknown though there is concern for an increased risk of squamous cell cancer. Due to paucity of published studies about this condition, we aim to report a case treated with endoscopic submucosal dissection (ESD). CASE DESCRIPTION/METHODS: A 64-year-old Caucasian man with a history of tobacco use and stable weight, presented to Gastroenterology clinic due to an 11-month history of solid food esophageal dysphagia. Physical examination was unremarkable. Upper endoscopy demonstrated white plaques at the gastroesophageal junction (Figure 1A and B). Biopsies obtained from this abnormality showed esophageal epidermoid metaplasia consistent with leukoplakia and mild patchy active chronic inflammation. GMS stain for fungal organisms was negative. An ESD procedure was planned, due to lesion size to ensure complete removal. Chromoscopy with methylene blue was used to mark the borders of the lesion and ESD was accomplished without adverse events (Figure 1C). Histologic examination confirmed hyperplastic squamous esophageal mucosa with marked hyperkeratosis without dysplasia and negative margins. During 2 year follow up, patient reported complete resolution of his dysphagia. DISCUSSION: The management strategy for esophageal leukoplakia is not well defined though reports suggest that endoscopic resection and surveillance are warranted. Here we represent a case where symptoms resolved and the lesion was completely removed by ESD.

White esophageal lesions in a patient with scleroderma: epidermoid metaplasia.

White esophageal lesions in a patient with scleroderma: epidermoid metaplasia.

Esophageal Leukoplakia.

CASE REPORT A 64-year-old white man with a history of tobacco use and stable weight presented to the gastroenterology clinic due to an 11-month history of solid-food esophageal dysphagia. On physical examination, patient was alert and in no acute distress. His vital signs were within normal limits. His head and neck examination revealed normal oropharyngeal mucosa. No thyromegaly, lymphadenopathy, or masses in his neck were noted on palpation. Abdominal examination presented normal bowel sounds, without distension or tenderness. Upper endoscopy demonstrated white plaques at the gastroesophageal junction (Figure 1).Figure 1.: Upper endoscopy showing white plaques at the gastroesophageal junction.Biopsies obtained from this abnormality showed esophageal epidermoid metaplasia consistent with leukoplakia and mild patchy active chronic inflammation. Gomori methenamine–silver nitrate stain for fungal organisms was negative. Given the potential for malignant transformation of leukoplakia, endoscopic resection was suggested for the patient. An endoscopic submucosal dissection was planned, due to the lesion size to ensure compete removal. Chromoscopy with methylene blue was used to mark the borders of the lesion, and endoscopic submucosal dissection was accomplished without adverse events (Figure 2). Histologic examination confirmed hyperplastic squamous esophageal mucosa with marked hyperkeratosis without dysplasia and negative margins. During the 2-year follow-up, the patient reported complete resolution of his dysphagia. An upper endoscopy was ordered for surveillance.Figure 2.: Chromoscopy with methylene blue was used to mark the borders of the lesion.Epidermal metaplasia is a histological correlate to a white patch on the surface of a mucous membrane that cannot be rubbed off, known as leukoplakia.1 It is a common finding in oral mucosa, but rare in esophageal mucosa.1,2 The etiology of this condition in the esophagus is unclear and thought to be associated with esophageal tobacco and alcohol exposure or possibly an unusual response to chronic acid reflux.1,3,4 Although generally asymptomatic, symptom presentation can include dysphagia.3 Endoscopic features include slightly elevated whitish surface, which can be translucent or cobblestone-like in appearance.2,4 The natural history is unknown. As adjacent dysplasia and possible squamous cell carcinoma of the esophagus has been reported, and it is suggested that there is a potential for malignant transformation and therefore strict surveillance or endoscopic resection or ablation is warranted.1,5 DISCLOSURES Author contributions: PV Hernandez drafted the manuscript. D. Snyder, A. Kahn, KK Wang, DA Katzka, JL Horsley-Silva revised the manuscript. JL Horsley-Silva is the article guarantor. Financial disclosure: None. Previous presentation: This case report was presented as a poster at the 2019 ACG Annual Meeting; October 25-30, 2019; San Antonio, TX. Informed consent was obtained for this case report.

Esophagitis in patients without gastroesophageal reflux disease or eosinophilic esophagitis

A multitude of inflammatory diseases other than gastroesophageal reflux disease (GERD) and eosinophilic esophagitis can affect the esophagus. Despite the deceptively simple organization of squamous mucosa and its limited number of inflammatory responses, a wide array of histologic patterns can be seen in inflammatory disorders involving the esophagus. Each such histologic pattern is associated with a limited number of underlying conditions, and the clinician can use this information to narrow the differential diagnosis. The purpose of this review is to review and discuss the pathologic diagnosis of esophagitis caused by conditions other than GERD or eosinophilic esophagitis, with an emphasis on recent developments in the field.Recent studies suggest that lymphocytic esophagitis may be a histologic manifestation of esophageal motility disorders. Immunophenotypic features of infiltrating lymphocytes may be helpful in this scenario. immunoglobulin G4-related disease has been implicated as a cause of esophageal inflammation with ulceration, strictures, and mass-forming fibrosis, whereas epidermoid metaplasia has been linked molecularly to the squamous cell neoplasia pathway.Improved knowledge and appreciation of the pathology of esophageal inflammation are needed to better understand the pathogenesis of various types of esophagitis, and to inform new approaches to the therapy and management of inflammatory esophageal diseases.

Primary Squamous Cell Carcinoma of the Breast is a Rare and Special Entity. A Case Report from Arab Region with Aggressive Behavior and follow up 25 Months

Background: Primary squamous cell carcinoma of the breast (PSCCB) is a very rare malignancy of the breast. Pure squamous cell carcinoma of the breast can originate from skin adnexa, the nipple or the epithelium of deep-seated epidermoid cyst or squamous metaplasia on chronic inflammation background. Case Report: Our case is a 49-year-old female patient who presented with a highly suspicious lump in her left breast. Bilateral mammography and core biopsy were carried out. The core biopsy was revealed atypical cells and review inconclusive. Incisional biopsy was done and revealed squamous cell carcinoma of the breast (SCCB). Her metastatic work up at presentation was unremarkable. Left-side modified radical mastectomy was carried out. TNM staging was Stage IIa pT2N0M0 GIII, Estrogen receptors (ER) and Progesterone receptors were negative and HER2/Neu was negative as well (Triple negative). Pt had adjuvant chemotherapy and radiotherapy. Eight months later, she developed multiple brain metastasis as solitary site of metastasis, then after four months she developed hepatic and pulmonary deposits. Pt survived only 25 months since disease diagnosis. We report this case with relatively younger age to confirm that primary squamous cell carcinoma of the breast has special aggressive entity and this conjugant with few series. The treatment of primary SqCC of the breast does not differ from other common histological types of breast cancer so far. Conclusions: The prognosis of this disease is highly uncertain and the treatment options are unclear and controversial. There is inadequate literature and treatment guidelines. To our knowledge it is the first case to be reported from arab region with aggressive behavior and short survival period.

Targeted next-generation sequencing supports epidermoid metaplasia of the esophagus as a precursor to esophageal squamous neoplasia

Esophageal epidermoid metaplasia is a rare condition that involves the proximal-to-middle third of the esophagus. It is sharply demarcated and defined histologically by epithelial hyperplasia, a prominent granular cell layer, and superficial hyperorthokeratosis. In addition, preliminary studies have suggested an association between esophageal epidermoid metaplasia and esophageal squamous neoplasia (squamous dysplasia and esophageal squamous cell carcinoma). To further characterize esophageal epidermoid metaplasia and better define its relationship to squamous neoplasia of the esophagus, we performed targeted next-generation sequencing on uninvolved esophageal squamous mucosa and matching esophageal epidermoid metaplasia specimens from 18 patients. Further, we evaluated both synchronous and metachronous high-grade squamous dysplasia/esophageal squamous cell carcinoma by next-generation sequencing from 5 of the 18 (28%) patients, and compared these findings to corresponding esophageal epidermoid metaplasia specimens. Targeted next-generation sequencing revealed 12 of 18 (67%) esophageal epidermoid metaplasia specimens' harbored alterations in genes often associated with esophageal squamous cell carcinoma. The most frequently mutated genes consisted of TP53 (n=10), PIK3CA (n=2), EGFR (n=2), MYCN (n=1), HRAS (n=1), and the TERT promoter (n=1). Sequencing of synchronous and metachronous high-grade squamous dysplasia/esophageal squamous cell carcinoma identified shared genetic alterations with corresponding esophageal epidermoid metaplasia specimens that suggests a clonal relationship between these entities. In addition, the presence of a TP53 mutation in esophageal epidermoid metaplasia specimens correlated with concurrent or progression to high-grade squamous dysplasia/esophageal squamous cell carcinoma. No genetic alterations were detected in uninvolved esophageal squamous mucosa. On the basis of these findings, we conclude esophageal epidermoid metaplasia is a precursor to in situ and invasive esophageal squamous neoplasia. Further, the detection of TP53 mutations in esophageal epidermoid metaplasia specimens may serve as an early detection biomarker for high-grade squamous dysplasia/esophageal squamous cell carcinoma.

Prevalence of oesophageal epidermoid metaplasia in 1048 consecutive patients and 58 patients with squamous neoplasms.

Oesophageal epidermoid metaplasia is defined by a dense granular layer with overlying hyperorthokeratosis, resembling the epidermis of skin. A possible association between epidermoid metaplasia, squamous dysplasia and squamous cell carcinoma has been proposed. The aim of this study was to compare the prevalence of epidermoid metaplasia in patients with oesophageal squamous neoplasms with that in a control cohort. Medical records and slides from 1048 consecutive oesophageal biopsies and resections for any indication and 58 patients with oesophageal squamous neoplasms were reviewed. Two cases (0.19%) of epidermoid metaplasia were identified in the 1048-patient control group. The prevalence of epidermoid metaplasia was significantly higher (P < 0.05) in the 58 patients with oesophageal squamous neoplasms, two of whom (3.5%) had concurrent epidermoid metaplasia (odds ratio 18.1, 95% confidence interval 2.5-131). One case was associated with a verrucous carcinoma and the other with a well-differentiated, superficial (pT1), exophytic squamous cell carcinoma. No patients had epidermoid metaplasia in a biopsy prior to the diagnosis of squamous neoplasia. The increased prevalence of epidermoid metaplasia observed in patients with squamous neoplasms provides some additional support for the proposed association. The hypothesis that epidermoid metaplasia is a precursor to squamous neoplasms remains unproven.

Pathogenesis of Plantar Epidermal Cyst: Three-Dimensional Reconstruction Analysis.

Pathogenesis of Plantar Epidermal Cyst: Three-Dimensional Reconstruction Analysis.