Granular Cell Tumor Research Articles

Bladder Malignant Granular Cell Tumor with EP300 Gene Mutation: A Case Report and Literature Review

Background: Malignant granular cell tumor (GCT) is extremely rare. Malignant GCT with EP300 gene mutation in the bladder has not been reported in the literature. Case Presentation: We report a special case of 45-year-old female with malignant GCT of the bladder. Pathological examination showed that the mass was 11 × 11 × 4.5 cm in size, involved in the bladder’s posterior wall. Under the microscope, the tumor cells were arranged in the shape of a nest or cord to infiltrate the bladder’s wall. The tumor cells were pleomorphic, red-stained granular within the cytoplasm, with increased nuclear/cytoplasmic ratio, vacuolar nuclei, and obvious nucleoli. The tumor cells were showed obvious nuclear atypia, and the mitosis was more than 5/50HPF. Coagulative necrosis was widely showed within the tumor. Immunohistochemistry (IHC) showed that S-100, NSE, CD68, CR, α-AT, and TFE-3 were strongly positive, and the Ki-67 proliferation index was around 15%. The next-generation high throughput sequencing indicated that EP300 gene was missense mutated (c.457A > G) with 33% mutation abundance, and genes of DPYD (c.1627A > G), ERCC1 (c.354T > C), NQO1 (c.559C > T), TPMT (c.719A > G) and XRCC1 (c.1196A > G) were polymorphic mutated. The patient died after three months of the second surgical treatment. Conclusions: We report for the first time a primary bladder malignant GCM accompanied by mutations in special driving genes such as EP300. We also conducted a comprehensive literature review and an in-depth discussion.

Rare Unilateral Submucosal Lipoma of the Oral Cavity: A Case Report

Introduction: Lipoma is a common benign tumour of soft tissue. Although a common occurence in the trunk and proximal portions of extremities. Aims: To signifies the importance of diagnosis and that lipoma should be ruled out in case of any facial swelling in general dental practice. Case Report: Only few cases of lipoma or its variants have been reported in the oral cavity. accounting to about 1 to 5 % of all the neoplasms of the oral cavity. Other benign connective tissue lesions such as granular cell tumour, neurofibroma, traumatic fibroma and salivary gland lesions (mucocele and mixed tumour) might be included in differential diagnosis. Discussion: We here describe this rare occurence, its clinical and histological presentation and emphasize on the possibility of a differential diagnosis for swelling in oral cavity. Conclusion: In this study the importance of diagnosis and that lipoma should be ruled out in case of any facial swelling in general dental practice and that lipomas may show an increase in size, if left untreated.

Congenital mandibular granular cell tumor in a male neonate: A rare case report

Congenital epulis or granular cell tumors are rare neonatal oral tumors. We report the case scenario of a male neonate presenting with congenital epulis on day 2 of life on the mandibular alveolar ridge. It was successfully treated with surgical resection under general anesthesia. During our wide review of the literature, we could not find a single case reporting a mandibular granular cell tumor in a male neonate.

A Nasal Localization of Abrikossof Tumor Observed to Yaounde Reference Hospital

Background/Aim: Abrikossof’s tumor or granular cell tumor is a rare tumor. The cervicofacial localization is the most common. The aim of this report case was to show a rare case of nasal localization, to the 48-year old patient, treated in poor medical condition. Case presentation: The patient consults late with enormous nasal mass involving for five years. After biopsy and facial CT-scan, a surgical procedure was performed. The evolution was good and the final pathology confirms the diagnosis. The objective of this case report was to show the originality of the presentation and the difficulties for management in poor medical environment. Conclusion: Abrikossof’s tumor is a rare benign tumor but whose preferential development occurs at the expense of the ENT sphere. Large forms remain the preserve of poor environments. The diagnosis is pathological and the treatment is surgical.

Insulated-tip Knife Tunneling and C-shaped Incision for Esophageal Endoscopic Submucosal Dissection: An Initial Western Experience

Background & AimsEsophageal endoscopic submucosal dissection (ESD) can be challenging, and technique innovation is needed to make it easier to perform, especially in the West, where experience and procedure volumes are less. The loose esophageal submucosa allows easy entry of the entire ceramic tip of an insulated-tip (IT) knife, allowing the electrocautery blade to dissect the submucosa, while the tip protects the muscle layer. This technique is called IT-knife tunneling and has been described in Japan. We evaluated the safety and feasibility of IT-knife tunneling esophageal ESD in the West. MethodsA prospective, single-center observational study evaluating the outcomes of IT-knife tunneling esophageal ESD from April 2016-December 2019. Lesions with expected fibrosis were excluded. All ESDs were performed by a single expert. Primary aim was to determine safety and feasibility of the technique. Results42 patients underwent IT-knife tunneling esophageal ESD. 35 were Barrett's-related neoplasms, three squamous cell cancers, three granular cell tumors, and one submucosal cyst. Mean lesion size was 3.1cm, procedure time 69 min, and resection speed 9.7 mm2/min. No esophageal perforations. One case each with delayed bleeding and significant intraprocedural bleeding. En-bloc, R0, and curative resection rates were 97.6%, 88.1%, and 78.6%, respectively. 7/9 of the non-curative lesions were high-risk lesions in poor surgical candidates. 36 patients are under post-procedure surveillance. Mean follow-up time was 12.1 months with no local/metastatic recurrence. ConclusionIT-knife tunneling technique allowed for safe and feasible esophageal ESD of non-fibrotic lesions at our Western center. Further use of this technique in the West is warranted.

A Rare Case of Granular Cell Tumor of the Urethra Provoking Urinary Retention

A 44-year-old woman was referred to urologist for urinary retention due to a urethral mass. Magnetic resonance imaging (MRI) showed a round mass that surrounded the urethra completely. The regional lymph nodes were normal and no other lesions were identified. Biopsy was performed revealing a tumor that was composed of large polygonal cells with eosinophilic and periodic acid-Schiff (PAS) - positive granular cytoplasm, indistinct cell margins and small round central nuclei. Immunohistochemical staining for S100 protein, vimentin, calretinin and inhibin Α was positive, indicating a granular cell tumor. Excision of the tumor including the urethra and an umbilical catheterized stoma using Mitrofanoff principle was performed.

Rebel Without a Cough: A Granular Cell Tumor in the Pulmonary Tree

Rebel Without a Cough: A Granular Cell Tumor in the Pulmonary Tree

Recurrent metastatic malignant granular cell tumor of the back presenting with axillary mass: A rare case report and review of the literature

Recurrent metastatic malignant granular cell tumor of the back presenting with axillary mass: A rare case report and review of the literature

Benign Granular Cell Tumor in The Subcutaneous Tissue of The Lumbosacral Region: A Case Report

Benign Granular Cell Tumor in The Subcutaneous Tissue of The Lumbosacral Region: A Case Report

転移性乳癌との鑑別に苦慮した, 腋窩部の皮下組織に発生した顆粒細胞腫の 1 例

転移性乳癌との鑑別に苦慮した, 腋窩部の皮下組織に発生した顆粒細胞腫の 1 例

A Case of a Pulmonary Granular Cell Tumor Detected by Pulmonary Resection of a Small Pulmonary Nodule with Obstructive Pneumonia

A Case of a Pulmonary Granular Cell Tumor Detected by Pulmonary Resection of a Small Pulmonary Nodule with Obstructive Pneumonia

Granular cell tumor of submandibular region —a case report and literature review

Granular cell tumor of submandibular region —a case report and literature review

Retrospective analysis of the outcomes of endoscopic submucosal dissection for the diagnosis and treatment of subepithelial lesions in a center with high expertise.

BackgroundUse of endoscopic submucosal dissection (ESD) for the diagnosis and treatment of subepithelial lesions (SELs) is limited in the West, and the best approach for these lesions is still debated. In this study we describe our experience regarding the usefulness, safety and outcomes of ESD for SELs.MethodWe performed a retrospective analysis of ESD in the diagnosis and treatment of SELs between November 2010 and February 2021.ResultsA total of 634 ESDs were reviewed. Fifty-five (9%) were performed in SELs, 6 in the esophagus, 34 in the stomach, and 15 in the rectum. ESD was technically successful in 53 lesions (96%). Most of them (82%) had previous endoscopic ultrasound evaluation, but only 20% had a histological diagnosis previous to the ESD. Neuroendocrine tumors, gastrointestinal stromal tumors, and granular cell tumors accounted for 38% of the procedures, with a 100% rate of en bloc resection and 65% of R0 resection; the main criterion for non-curative resection was a deep positive margin, and none of the patients treated with complementary surgery had lesions on the gastrointestinal wall. Most of the procedures (62%) were performed in lesions with very low malignant potential, providing the definitive diagnosis of SELs where the previous diagnostic workup was inconclusive. We had a total of 2 delayed bleedings and 1 perforation, all treated endoscopically.ConclusionOur real-life experience showed that ESD can be an effective and safe diagnostic tool for undetermined SELs, as well as an effective treatment for neoplastic SELs with malignant potential.

Granular cell tumor presenting as subcutaneous nodule mimicking local recurrent breast cancer: A diagnosis by fine needle aspiration cytology

Granular cell tumor presenting as subcutaneous nodule mimicking local recurrent breast cancer: A diagnosis by fine needle aspiration cytology

Extrahepatic Obstructive Jaundice due to Granular Cell Tumour

Extrahepatic Obstructive Jaundice due to Granular Cell Tumour

Atypical cytological presentation of granular cell tumour: Tumour-associated fibrosis may affect fine-needle aspiration cytology accuracy.

The cytological features of granular cell tumour (GCT) are generally quite typical but, in some cases, the fine needle aspiration cytology (FNAC) diagnosis of GCT may be difficult or impossible because of unusual sites of onset or equivocal cytological features. In this report, two GCTs with atypical FNAC features are described in order to investigate the causes and provide possible diagnostic tips. From a series of nine histologically proven GCTs, two inconclusive FNAC cases were retrieved. Smears were poorly cellular showing isolated naked nuclei, anisonucleosis, granular chromatin and occasional small nucleoli. The background was finely granular in one case. Histological controls of these cases revealed marked fibrosis. Tumour-associated fibrosis in GCT is variable and does not seem to influence clinical behaviour but it influences the harvest and the integrity of granular cells collected by FNAC. When GCT smears are poorly cellular, attention should be paid to the granular background and to the few granular cells, if any, as they might be the only features to suggest a GCT.

Recent developments in gastroesophageal mesenchymal tumours.

The pathologist's approach to gastroesophageal mesenchymal tumours has changed dramatically during the last 25years. In particular, gastrointestinal stromal tumour (GIST) has evolved from a wastebasket mesenchymal tumour category to a precisely defined entity with an increasingly detailed genetic subclassification. This subclassification has brought gastrointestinal mesenchymal neoplasia into the realm of precision medicine, with specific treatments optimised for particular genetic subtypes. Molecular genetic data have also greatly improved our understanding of oesophageal mesenchymal tumours, including the discovery that so-called 'giant fibrovascular polyps' in fact represent a clinically distinctive presentation of well-differentiated liposarcoma. Here, we will focus on gastroesophageal mesenchymal tumours for which there have been recent developments in classification, molecular genetics or tumour biology: granular cell tumour, 'giant fibrovascular polyp'/well-differentiated liposarcoma, plexiform fibromyxoma, gastroblastoma and, of course, GIST.

Immunoexpression of BDNF, TrkB, and p75NTR receptors in peripheral neural lesions of the head and neck.

Brain-derived neurotrophic factor (BDNF) and neurotrophin receptors have been recognized as fundamental regulators of normal brain development, homeostasis, and plasticity. They have also been studied in the behavior of central nervous system tumors. Here, we studied the pattern of BDNF, TrkB and p75NTR immunoexpression in peripheral benign and malignant neural lesions in head and neck. This cross-sectional analytical study included 79 cases of head and neck neural lesions. Nineteen cases of traumatic neuromas (TN), 20 cases of granular cell tumors (GCT), 16 cases of neurofibromas (NF), 20 cases of schwannomas (SC), and 4 malignant peripheral nerve sheath tumor (MPNST) were submitted to immunohistochemistry with BDNF, TrkB, and p75NTR antibodies. A semi-quantitative analysis was performed. The analysis of BDNF demonstrated a high percentage of positive cells in TN, GCT and SC with a decrease in cases of NF and MPNST. TrkB presented a lower significant immunoexpression in GCT in relation to the TN, NF, SC, and MPNST (P<.0001); and TN showed less percentage of positive cell compared to SC (P=.0017). Regarding p75NTR, the percentage of positive cell was significantly reduced in MPNST compared GCT (P=.009), NF (P=.0138) and SC (P=.0069). Also, a decrease in TN compared to GCT (P=.007) was observed. Our results showed the immunoreactivity of BDNF, TrkB, and p75NTR in head and neck peripheral neural lesions. Reduction of BDNF and p75NTR in MPNST might suggest down-regulation during the acquisition of malignant phenotype.

Whole-exome sequencing reveals novel vacuolar ATPase genes' variants and variants in genes involved in lysosomal biology and autophagosomal formation in oral granular cell tumors.

Granular cell tumors (GCTs) are rare neuroectodermal soft tissue neoplasms that mainly affect the skin of the upper limbs and trunks and the oral cavity. GCTs are derived from Schwann cells and, ultrastructurally, their intracytoplasmic granules are considered autophagosomes or autophagolysosomes and are consistent with myelin accumulation. In this study, a convenience set of 22 formalin-fixed, paraffin-embedded samples of oral GCTs, all but one sample located at the tongue, was screened for mutations by whole-exome (WES) or targeted sequencing. WES revealed two novel variants in genes of the vacuolar ATPase (V-ATPase) complex: ATP6AP1 frameshift c.746_749del, leading to p.P249Hfs*4, and ATP6V1A non-synonymous c.G868A, leading to p.D290N. Each of these mutations occurred in one case. With regard to the samples that were wild type for these V-ATPase variants, at least two samples presented variants in genes that are part of endosomal/lysosomal/autophagosomal networks including ABCA8, ABCC6, AGAP3, ATG9A, CTSB, DNAJC13, GALC, NPC1, SLC15A3, SLC31A2, and TMEM104. Although the mechanisms involved in oral GCT initiation and progression remain unclear, our results suggest that oral GCTs have V-ATPase variants similarly to GCTs from other tissues/organs, and additionally show variants in lysosomes/endosomes/autophagosomal genes.

Granular cell tumor of nasal cavity: An uncommon occurrence with review of literature

Granular cell tumors (GCTs) are uncommon benign lesions which usually occur in head and neck region, with tongue being the most common site. Lesions involving nasal and paranasal areas are extremely rare. We report a case of GCT arising from left nasal cavity in a 15 year old female who presented with unilateral epistaxis since 4-5 months.