Granular Cell Tumor Research Articles

Abrikossoff’s skin tumor: Report of two cases

Abrikossoff’s tumor, also known as granular cell tumor, is a rare tumor first described on the tongue by Ivanovich Abrikossoff in 1926. It is mainly located in the head and neck regions with preferential mucosal involvement and may occur at any age and in both sexes, although with a female predominance. Herein, we report two cases: the case of a nodule under the left breast in a 47-year-old female with a history of breast cancer and of a subcutaneous lesion on the right thigh in a 46-year-old female. The diagnosis of granular cell tumor was reached by biopsy with immunohistochemical staining, then treatment was completed by a large surgical excision. Key words: Abrikossoff; Skin; Granular cell tumor

Granular Cell Tumor, When to Think About it? Clinical Case

We present the case of a female patient with a lesion on the dorsal of the tongue, of two years of evolution, whose histopathological diagnosis was granular cell tumor. We are recapitulating the epidemiological, clinical, histological, treatment and prognosis characteristics, for a better understanding of the pathology

A Case of Laryngeal Granular Cell Tumor

Granular cell tumors can occur at any body site. While in about a half of the cases, they arise in the head and neck region, occurrence in the larynx is rare. Based on their characteristic immunohistochemical staining patterns, granular cell tumors are thought to arise from Schwann cells. In all but a small percentage of cases, the tumors are benign. Multiple tumors in the body are seen in 10%-14% of cases. Herein, we report a case of granular cell tumor of the vocal cord.

A Case of Epiglottic Granular Cell Tumor

Granular cell tumor (GCT) is a benign tumor that can arise in any organ. Laryngeal GCT is rare. In most cases of laryngeal GCT, the tumor is reported to arise from a vocal cord. Epiglottic GCT is extremely rare, with only 1 case reported in the literature until date.

Granular cell tumors of the urethra

Granular cell tumors (GCTs) are a rare type of mesenchymal tumors that are histologically derived by Schwann cells and rise within soft tissues such as skin and mucosal surfaces. Differentiation between benign and malignant GCTs is often difficult and relies on their biological behavior and metastatic potential. While there are no standard guidelines for management, upfront surgical resection, whenever feasible, is key as a definitive measure. Systemic therapy is often limited by poor chemosensitivity of these tumors; however, accumulating knowledge of their underlying genomic landscape has opened some opportunities for targeted approaches, for example, the vascular endothelial growth factor tyrosine kinase inhibitor pazopanib, which is already in clinical use for the treatment of many types of advanced soft tissue sarcomas.

Abrikosoff’s Tumor: A Case Repor

A 68-year-old patient had, for about 7 months, in the right buttock, a nodule of about 2 cm in diameter, rosy colour, centrally ulcerated, of hard consistency, asymptomatic. Histological examination and immunohistochemical investigations deposed for the diagnosis of granular cell tumour (Abrikosoff tumour). Granular cell tumour is a neoplasm in most cases benign, characterised by voluminous cells with eosinophilic cytoplasm and grainy appearance, with the granules corresponding to lysosomes. It is currently considered a variant of schwannoma, although cases with different histogenesis have been described. This tumour, most frequently localised on the dorsal surface of the tongue, very rarely affects the skin

“Clarity with Granularity:” A Case Report of Malignant Granular Cell Tumor

Granular cell tumor (GCT) is an uncommon mostly benign neoplasm named after Abrikossoff. This mesenchymal neoplasm supposedly arises from the Schwann cells. Most commonly presents as asymptomatic swelling in the gastrointestinal tract and skin. Histologically in the dermis polyhedral cells with round vesicular nucleus with eosinophilic cytoplasm is seen. Here, we present a case of a malignant GCT in a 45-year-old male over the upper back which on biopsy revealed neuron-specific enolase-positive tumor cells and the patient was treated with S-plasty with wide excision, there was no recurrence till 1 year.

Abrikossof’s Tumor: Report of a Case

The granular cell tumor of the breast is a rare tumor and a usually benign disease that appears clinically and radiologically like a malign tumor. We report a case of GCT in a woman of 41 years, who present a clinically and radiologically suspect later. The anatomopathological examination showed the benign tumor proliferation and a large tumorectomy was realized. The immunostaining with PS100 and NSE protein confirm the nature of the tumor.

Granular cell ameloblastoma: A rare and unique variant

Ameloblastoma is a slow-growing and locally invasive epithelial odontogenic tumor of the jaw that runs a benign course in most cases. Granular cell ameloblastoma is a rare subtype of ameloblastoma, showing the granular transformation of its cytoplasm. It is considered as an aggressive variant of ameloblastoma. Herein, we report the case of a 34-year-old male patient who presented with a swelling in the left cheek for a 1-year duration with a recent rapid increase in size. Examination showed a 4 × 3 cm growth involving the left buccal mucosa and retromolar area. Imaging studies showed expansile lytic lesion mandible. Biopsy revealed neoplasm with odontogenic epithelial islands showing peripheral palisading of tall columnar cells with reversal of polarity and the center of the islands showing stellate reticulum-like cells which were markedly replaced by granular cells. Granular cells can appear in various odontogenic and non- odontogenic tumors. When there is extensive granular cell change in ameloblastoma, it should be differentiated from other oral lesions with granular cells including granular cell odontogenic tumor, granular cell tumor, and congenital epulis.Herein we report the case of a 34-year-old male patient presented with swelling left cheek of one-year duration with recent rapid increase in size. Examination showed a 4x3 cm growth involving left buccal mucosa and retromolar area. Imaging studies showed expansile lytic lesion mandible. Biopsy revealed neoplasm with odontogenic epithelial islands showing peripheral palisading of tall columnar cells with reversal of polarity and the center of the islands showing stellate reticulum like cells which were markedly replaced by granular cells. Granular cells can appear in various odontogenic and nonodontogenic tumors. When there is extensive granular cell change in ameloblastoma it should be differentiated from other oral lesions with granular cells including granular cell odontogenic tumour, granular cell tumour and congenital epulis.

Intramuscular granular cell tumor in the sternocleidomastoid muscle: A case report and literature review.

Granular cell tumor (GCT) is a rare soft-tissue neoplasm that originates from Schwann cells. Most cases occur in the subcutaneous or submucosal regions, and intramuscular GCT is even more uncommon. Herein, we describe an atypical GCT growing in the sternocleidomastoid muscle. A 41-year-old Chinese man was admitted to our hospital for a right neck mass. In magnetic resonance images, the mass showed higher signal intensity than the adjacent normal muscle on T2-weighted images and intermediate signal intensity on T1-weighted images. Slightly enhanced and higher signal intensity was observed in the peripheral rim on contrast-enhanced fat-sat T1-weighted images, and the "stripe sign" was evident. The tumor was completely resected, and pathological examination indicated an atypical GCT. The patient tolerated the procedure well. This is a rare case report of an intramuscular GCT from diagnosis to treatment. Magnetic resonance imaging might help diagnose such tumors, and we review different magnetic resonance imaging characteristics of intramuscular GCTs at other sites.

Clinical and pathological analysis of congenital granular cell tumor.

This study aims to explore the clinical and pathological characteristics of congenital granular cell tumors and provide some references for clinical diagnosis, differential diagnosis, and treatment. Nine ca-ses of congenital granular cell tumors who visited the Children's Hospital of Zhejiang University School of Medicine from February 2008 to March 2022 were retrospectively analyzed. Herein, its clinical characteristics, pathological characteristics, treatment, and prognosis were summarized and analyzed. We found that nine patients were all female, aged 1‑38 days when they saw the doctor. Three of them were attached in maxillary and the other six were attached in mandible. Meanwhile, six tumors were found during the mother's pregnancy at 28-39 weeks and three tumors were found at the baby's birth. One case was excised surgically under local anesthesia, and the other cases were excised surgically under general anesthesia. After 1 month to 12 years of follow-up, patients have no recurrence, however, two cases emerged new teeth from the tumor resection site. Histopathology of all excised lesions was congenital granular cell lesion. Congenital granular cell tumor is a benign tumor and the prognosis is good. Therefore, surgical resection of the tumor can be done without extensive resection, and it generally does not relapse. Thus, ultrasonography during pregnancy is an important method for the early detection of congenital granular cell epulis.

Molecular Characterization of Multifocal Granular Cell Tumors.

Granular cell tumors (GrCT) were recently found to be driven by inactivating mutations in vacuolar H + -ATPase (V-ATPase) genes, most frequently ATP6AP1 and ATP6AP2 . Multifocal presentation is present in ~10% of cases; however, the relationship between multifocal tumors in a given patient has not been elucidated. We hypothesized that benign-appearing multifocal GrCT are molecularly distinct whereas paired primary and metastatic malignant GrCT share identical mutations. To test this, we conducted targeted next-generation sequencing of the V-ATPase genes in multifocal GrCT and whole exome and Sanger sequencing in paired primary and metastatic malignant GrCT. Thirteen patients with≥2 GrCT were identified (total of 43 tumors). Forty-two tumors were successfully sequenced. Tumors showed somatic mutations in 3 of the 10 targeted genes in 32 of 42 samples (76%). Twenty tumors showed mutations in ATP6AP1 (48%), 10 tumors had mutations in ATP6AP2 (24%), and 2 tumors showed mutations in ATP6V0A4 (5%). Predicted loss-of-function mutations were found in ATP6AP1 in 17 tumors (40%), in ATP6AP2 in 10 tumors (24%), and in ATP6V0A4 in 1 tumor (2%). In 8 patients, mutually exclusive mutations were detected in at least 2 tumors per patient. Two patients were identified with malignant GrCT with material available from both primary and metastatic sites. Identical frameshift insertions were found in ATP6AP1 in 1 case and the second case showed identical nonsense mutations in ATP6AP1 . In conclusion, multifocal GrCT within an individual patient are molecularly distinct, while paired primary and metastatic GrCT share identical mutations.

Combination conventional endoscopy and endoscopic ultrasound can differentiate between esophageal granular cell tumors and leiomyomas.

Esophageal leiomyomas and granular cell tumors (GCTs) are the 2 most common subepithelial tumors found in the esophagus. We attempted to differentiate the 2 tumors using endoscopic findings and endoscopic ultrasound (EUS) features. Between December 2008 and June 2021, a total of 38 esophageal GCTs and 11 esophageal leiomyomas originating from the muscularis mucosa were selected. Clinical characteristics and endoscopic features were retrospectively reviewed. Although esophageal GCTs are mainly located in the lower third of the esophagus (81.6%), esophageal leiomyomas are mainly located in the upper third of the esophagus (45.5%). Broad-based (84.2%, P = .002) and whitish-to-yellowish color changes (97.4%, P < .001) are significant endoscopic features of esophageal GCTs. The echogenicity of esophageal leiomyoma was similar to that of proper muscle echogenicity. However, the echogenicity of esophageal GCTs was hyperechoic compared to that of the proper muscle layer (90.0% vs 9.1%, respectively, P < .001). EUS revealed a clearer hyperechoic epithelial lining in the esophageal leiomyoma than in esophageal GCTs (100% vs 26.7%, respectively, P < .001). The 5 endoscopic factors (location of the lower third, broad base, whitish-to-yellowish color, hyper-echogenic, and unclear demarcated hyperechoic epithelial line) were counted to differentiate esophageal GCTs from esophageal leiomyomas. Tumors with 3 or more endoscopic factors were all esophageal GCTs. The characteristic endoscopic and EUS features of esophageal GCTs were broad-based, whitish-to-yellowish colored subepithelial tumors located in the lower third of the esophagus and hyperechoic tumor with an unclear demarcated hyperechoic epithelial line. A combination of these features can predict esophageal GCTs before endoscopic resection.

FNA as a Powerful Modality to Detect Granular Cell Tumor in Male Breast: A Report and Review of Literature

Abstract Introduction/Objective Granular cell tumor (GCT) is a benign mesenchymal tumor of Schwannian origin. Granular cell tumor is an uncommon tumor of the breast with a prevalence of 1:1000 to 6.7:1000 of all breast tumors. Most cases are diagnosed on surgical resection. When reported that are most commonly in middle-aged premenopausal women. Diagnosis of GCT on fine needle aspiration (FNA) in male patients is, however, extremely rare. We present here an unusual case of GCT of the breast in a male patient clinically mimicking malignancy. Methods/Case Report A 34-year-old male patient presented with a palpable lump in the left breast. An imaging study showed a 0.6 cm hypoechoic mass with microlobulated borders and no internal vascularity suspicious for breast carcinoma (BIRAD-4). Fine needle aspiration (FNA) of the mass was performed. Rapid onsite specimen evaluation was performed and additional passes were performed to collect sample for cell block to perform ancillary studies. FNA revealed clusters of polygonal cells with abundant eosinophilic granular cytoplasm and poorly defined borders. Those cells had round to ovoid nuclei with vesicular chromatin pattern and prominent nucleoli. A differential diagnosis of GCT, apocrine metaplasia, and lesions rich in histiocytes such as granulomatous inflammation, fat necrosis and duct ectasia were considered. Immunohistochemical staining with S100 and CD68 was performed which stained granular cytoplasm in tumor cells of GCT. A review of literature from the past 5 years shows 23 cases of GCT of the breast are reported in the literature and of these only 3 (13%) are reported in males. These tumors ranged from 20-68 years with tumor size ranging from 5- 28 mm. Only 1(4%) cases were preoperatively diagnosed using FNA. No cases of GCT were preoperatively diagnosed on FNA samples from the breast. Results (if a Case Study enter NA) N/A. Conclusion We show here that a powerful relatively noninvasive and rapid modality like FNA can be effectively utilized to detect very rare benign tumor like GCT in the male breast where imaging studies suspect breast cancer.

S-100 Negative Granular Cell Tumor of Oral Cavity with Aggressive Clinical Behavior

Abstract Introduction/Objective Granular cell tumors (GCTs) are neoplasms with neuroectodermal (Schwann cell) differentiation that is typically benign and cured by surgical excision. These tumors characteristically display strong expression of S-100 protein. Similar tumors without expression of S-100 protein are called “S-100 negative granular cell tumors.” The few reported cases of S-100 negative GCT in the oral cavity describe indolent clinical behavior. We report a case of a 49-year-old male with recurrent S-100 negative GCT in the oral cavity. Methods/Case Report The patient presented initially with a mass in the hard palate, which was resected and diagnosed as an S-100 negative GCT. One year later, the patient developed severe epistaxis and anemia (hemoglobin 7.2 g/dL). A large tumor of the hard palate was the source of bleeding. It was resected and diagnosed as recurrent S-100 negative GCT. Histologically, this tumor consists of small nests of epithelioid to spindled cells with moderately abundant granular eosinophilic cytoplasm, round central nuclei with vesicular chromatin and distinct eosinophilic nucleoli, and significant mitotic activity. The cells are immunoreactive for SOX10 and negative for S-100, melan-A, keratin AE1/AE3, p40, synaptophysin, smooth muscle actin, desmin, and myogenin. Results (if a Case Study enter NA) N/A Conclusion S-100 negative GCTs are rare, and only a few case reports describe their involvement in the oral cavity. We report this case because of its rarity and aggressive clinical behavior. Recognition of this entity and its potential for locally aggressive growth is important. Management of this tumor by complete excision seems advisable.

An update on cutaneous granular cell tumours for dermatologists and dermatopathologists

Granular cell tumours are rare soft tissue neoplasms, which occur at a wide variety of sites and commonly involve the skin. Distinction between benign and malignant granular cell tumours is important because benign tumours can be fully cured by complete excision, whereas malignant tumours commonly recur and cause fatal metastatic disease. Communication between the dermatologist and pathologist is also important, as pathology may provide false reassurance by evaluating a benign-appearing part of a clinically malignant tumour. The following review summarizes the current literature on the epidemiology, clinical presentation, pathology, radiology, treatment and prognosis of cutaneous granular cell tumours, with a focus on improving diagnosis and management for dermatologists and dermatopathologists.

Underwater endoscopic mucosal resection of upper gastrointestinal subepithelial tumors: A case series pilot study (with video).

Introduction:Underwater endoscopic mucosal resection (UW-EMR) has been recently introduced as an effective technique for rectal third layer subepithelial tumors. Therefore, we aimed to assess the safety, efficacy, and procedure time of UW-EMR for upper gastrointestinal subepithelial tumors (SETs) originating from the deep mucosal and/or submucosal layers.Methods:Between August 2018 to July 2022, a total of 17 SETs (7 duodenal SETs, 6 gastric SETs, and 4 esophageal SETs) were included in this study. On endoscopic ultrasound examinations, the tumors were found to be embedded in the submucosa without muscularis propria invasion. All SETs were resected successfully using UW-EMR. The characteristics of the tumors and their R0 resection rate, adverse event rate, and recurrence rate were evaluated retrospectively.Results:The mean tumor size was 0.9 cm (range, 0.3-1.5 cm). En bloc resection and complete resection rates were 100%, respectively. The patients showed no complications such as perforation or bleeding. Histologic assessments of the resected tumors revealed 9 neuroendocrine tumors (7 on the duodenum, 2 on the stomach), 2 gastric cystica profunda, 1 gastric follicular lymphoma, 1 gastric fibromyxoma, 3 esophageal granular cell tumors, and 1 esophageal adenoid cystic carcinoma. The mean procedural time was 3.2 min (range, 1.3-8.7 minutes). The overall en bloc and complete resection rates were 100%, respectively. No recurrence was observed during the follow-up period.Conclusion:UW-EMR is a safe and effective treatment for upper gastrointestinal SETs embedded in the submucosal layer. Further studies are needed to compare other endoscopic resection techniques.

Inhibin Alpha Expression in Human Tumors: A Tissue Microarray Study on 12,212 Tumors.

As a result of its expression in corresponding normal cell types, inhibin alpha (INHA) is used as an immunohistochemical marker for adrenocortical neoplasms and testicular or ovarian sex cord stromal tumors. However, other tumors can also express INHA. To comprehensively determine INHA expression in cancer, a tissue microarray containing 15,012 samples from 134 different tumor types and subtypes was analyzed by immunohistochemistry. INHA positivity was found in 72 of 134 tumor categories, including 26 categories with ≥1 strongly positive case. A moderate to strong INHA positivity was found in 100% of 37 granulosa cell tumors of the ovary, 100% of 43 other sex cord stromal tumors of the ovary/testis, 100% of 31 granular cell tumors, 78.5% of 28 adenomas, 44% of 25 carcinomas of the adrenal cortex, and 46.7% of 15 pancreatic acinar cell carcinomas. At least a weak INHA positivity was seen in <33% of cases of 46 additional tumor entities. In summary, these data support the use of INHA antibodies for detecting sex cord stromal tumors, granular cell tumors, and adrenocortical neoplasms. Since INHA can also be found in other tumor entities, INHA immunohistochemistry should only be considered as a part of any panel for the distinction of tumor entities.

Role of endoscopic ultrasound and endoscopic resection in the diagnosis and treatment of esophageal granular cell tumors

Background and Aim Diagnosis and complete resection of esophageal granular cell tumors (GCTs) is an area of concern. However, articles on endoscopic ultrasound (EUS) and endoscopic resection of esophageal granular cell tumors are few. To evaluate the role of endoscopic ultrasound and endoscopic resection in the diagnosis and treatment of esophageal granular cell tumors. Methods A retrospective analysis of 15 patients with esophageal granular cell tumors who underwent endoscopic ultrasound examination and endoscopic resection in our hospital was conducted. The clinical data, endoscopic ultrasound images, endoscopic treatment, pathological characteristics, postoperative complications and follow-up status of all patients were evaluated. Ten board-certified endoscopists independently evaluated the white light endoscopic images of the 15 patients (Test 1) and the endoscopic ultrasound images together with white light endoscopic images of the same patient set (Test 2). Result Female patients accounted for 53.4% of the participants. The average age at the time of diagnosis was 49.13 ± 9.31 years old. Ten lesions (66.67%) showed hypoechoic signal, four lesions (26.67%) showed hyperechoic signal and one lesion showed medium signal. The diagnostic accuracy was significantly higher with Test 2(65.3% vs. 92.0%, p < .001). Complete endoscopic resection was performed in all the patients. No complications occurred in any of the patients. No esophageal stenosis, recurrence, or metastases was found in all patients during the follow-up period. Conclusion The endoscopic ultrasound images of esophageal granular cell tumors have certain characteristics that help diagnose esophageal granular cell tumors. Endoscopic resection of esophageal granular cell tumors is an effective, safe and feasible treatment method.

S2400 Granular Cell Tumor: A Rare Disease of Esophagus

Introduction: Granular cell tumors (GCTs) are rare, often benign tumors of neurogenic origin. GCTs are usually found incidentally but can present with dysphagia in symptomatic patients. They are diagnosed via biopsy and histology following an esophagogastroduodenoscopy( EGD). We present a case of a 46-year-old female who presented with dysphagia, GERD, and weight loss diagnosed with esophageal granular cell tumor following an EGD. Case Description/Methods: A 46 years old female with a past medical history of H. pylori gastritis presents with complaints of dysphagia for 3 months and GERD associated with weight loss. EGD reviewed a single 4 mm nodule found in the lower third of the esophagus with the appearance of a lipoma (Figure). Biopsy of esophagus nodule resulted in esophageal squamous epithelium with focal granular cell tumor; Immunohistochemistry tumor cells are positive for S100, CD56, CD68, negative for calretinin and AE1/3 supporting rare esophageal granular cell tumor. EUS demonstrated a 4.7 mm x 2.6 mm intramural (subepithelial) lesion appeared to originate from within the superficial mucosa (Layer 1), Patient underwent repeat EGD with en-bloc cap and band-assisted endoscopic mucosal resection (EMR) followed by 3 hemoclips placed for hemostasis. The patient was discharged home on a proton pump inhibitor. The patient reports clinical improvement on follow-up after 4 weeks. Discussion: GCTs are thought to originate from Schwann cells; the prevalence of GCTs is challenging to determine as there have been roughly 300 documented cases of GCTs discussed in the literature. Conversely, patients with larger diameter lesions typically present with indolent dysphagia and other less common symptoms such as gastro-esophageal reflux disease, dyspepsia, chest pain, cough, or nausea. GCTs on EGD appear sessile, yellow-white in color, and firm, with a negative pillow sign. After performing EGD, an endoscopic ultrasound (EUS) is diagnostically utilized to ascertain tumor invasion and provide a biopsy through fine needle aspiration (FNA). Histopathological diagnosis, including immunohistological staining, is essential for confirmation of GCT. Immunohistological staining is positive for S-100, PAS (Periodic Acid Schiff), neuron-specific enolase, nestin, and vimentin. Patients whose neoplasms are less than 1 cm in diameter are treated conservatively with endoscopic follow-up, with tumors greater than 1 cm in diameter, or having clinical symptoms that need endoscopic or surgical resection.Figure 1.: A: EUS showing 4.7 mm x 2.6 mm hypoechoic intramural (subepithelial) lesion was found in the lower third of the esophagus. It appeared to originate from within the superficial mucosa (Layer 1). A tissue diagnosis was obtained prior to this exam. B: EGD significant for sessile, yellow white in color, and firm mass followed by EMR. C: Histopathology with H&E showing clusters of polygonal cells with granular eosinophilic cytoplasm (top) and S100 stain (below).