Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.

INTRODUCTION: Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis. Addi- tionally, a subset of GCTs demonstrates a high rate of recurrence, underscoring the need for better prog- nostic markers. Therefore, it is crucial to identify molecular markers associated with aggressive behavior in GCTs. Molecular analysis may be particularly beneficial in cases exhibiting cytological atypia to in- form clinical outcome prognostication and guide therapeutic strategies. OBSERVATION: In this case report, a 45-year-old female with multiple gastrointestinal GCTs is pre- sented. The patient did not have any genetic syndromes commonly associated with GCT, such as neu- rofibromatosis type 1, Noonan syndrome or LEOPARD syndrome. The tumors not only demonstrated nuclear atypia, but also harbored a unique FLT3 Y842C somatic alteration identified by next-genera- tion sequencing. The patient remains asymptomatic and under endoscopic surveillance two years after diagnosis and complete resection of the neoplasms. CONCLUSION: We presented an exceedingly rare case of multifocal atypical GCT in an adult without any previously known genetic syndrome. A tumoral FLT3 Y842C point mutation not previously reported in GCT was discovered. Although the precise significance of this finding is uncertain, FLT3 Y842C has been cataloged as likely pathogenic in ClinVar. This report underscores the potential predictive utility of next-generation sequencing in the characterization and management of rare neoplasms.

Granular cell tumour of the breast.

Granular cell tumours (GCT) of the breast have similar clinical and radiological features to breast carcinomas. We present a case of a female patient with a tender, palpable lump, and associated skin changes. Imaging of the lesion was suspicious of malignancy. Initial histological examination showed uniform sheets of polygonal cells with abundant granular cytoplasm, and follow-up immunohistochemistry showed strongly positive staining of tumour cells with S100 and CD68, confirming the diagnosis of GCT. Wide local excision with complete resection margins was performed as a curative treatment for this lesion. This case report highlights the importance of considering GCTs in the differential diagnoses of breast lesions suspicious of malignancy and emphasises the necessity of accurate diagnosis of GCT for proper treatment.

From prenatal diagnosis to surgical treatment: two case reports of congenital granular cell epulis.

Herein, we detail a multidisciplinary approach and sequential treatment for two infants with congenital granular cell epulis (CGCE). Ultrasonic examinations at 34 weeks of gestation revealed prominent oral masses in both fetuses. To devise a carefully considered treatment strategy, a comprehensive multidisciplinary consultation including oral and maxillofacial surgeons, pediatricians, obstetricians, and anesthesiologists was convened. Following cesarean sections, the lesions were successfully removed, measuring approximately 30 × 15 mm and 30 × 20 mm in size, respectively. Immunohistochemical analysis showed that vimentin was positive, S-100 protein was negative, and NSE protein and CD68 protein were negative. These findings underscore the importance of prenatal diagnosis of congenital granular cell epulis for the effective management of these rare benign conditions.

Cytological diagnosis of cutaneous granular cell tumor: Rare tumor with rare presentation.

ABSTRACT: Granular cell tumors (GCTs) are uncommon soft tissue tumors, which are difficult to diagnose merely by clinical examination. Fine-needle aspiration cytology (FNAC), being an effective first-line investigation, plays a significant role in the preoperative diagnosis of GCT. However, the tumor can mimic certain other lesions; hence, a cytopathologist needs to be aware of its characteristic morphology. We report here a case of GCT, presented as a subcutaneous nodule in the first finger web. A differential diagnosis of lipoma/neurofibroma was made clinically. FNAC was done and showed characteristic features of granular cell tumor along with intranuclear inclusions and subsequently, it was confirmed on histopathology.

Simultaneous granular cell tumor and seminoma in the descended testis of a cryptorchid rabbit.

Testicular tumors are rarely reported in rabbits. In this case study, a 4-year-old Holland lop rabbit, previously diagnosed with unilateral cryptorchidism, was presented because of enlargement of the descended testis. The rabbit was clinically normal. Following unilateral orchiectomy and scrotal ablation, histopathological analysis revealed 2 distinct types of testicular tumor in the descended testis: a granular cell tumor and a seminoma. To the best of the author's knowledge, this is the first documented report of simultaneous testicular tumors in the testis of a rabbit with unilateral cryptorchidism.

Tumeur à cellules granulaires et séminome simultanés dans le testicule descendu d'un lapin cryptorchideLes tumeurs testiculaires sont rarement rapportées chez le lapin. Dans cette étude de cas, un lapin Holland Lop de 4 ans, précédemment diagnostiqué avec une cryptorchidie unilatérale, a été présenté en raison d'une hypertrophie du testicule descendu. Le lapin était cliniquement normal. Après orchidectomie unilatérale et ablation scrotale, l'analyse histopathologique a révélé 2 types distincts de tumeur testiculaire dans le testicule descendu : une tumeur à cellules granuleuses et un séminome. À la connaissance de l'auteur, il s'agit du premier rapport documenté de tumeurs testiculaires simultanées dans le testicule d'un lapin atteint de cryptorchidie unilatérale.(Traduit par Dr Serge Messier).

Tumoración en dorso de mano: a propósito de un caso / Tumor on the back of the hand: about a case

Spinocellular carcinoma is a tumor lesion that frequently occurs in photo-exposed areas, presenting characteristics such as keratinization, scaly areas and even ulcerations. Its potential for metastasis makes early identification and diagnosis essential in order to carry out correct treatment of said lesion. In the spectrum of spinocelullar carcinomas is Keratoacanthoma, which has been in debate about its origin and its benignity. We present the clinical evolution, treatment, results, and bibliographic review of a keratoacanthoma.

El carcinoma espinocelular es una lesión tumoral que se da frecuentemente en zonas foto-expuestas, presentando características tales como queratinización, zonas descamativas e incluso ulceraciones. Su potencial de metástasis hace imprescindible la identificación y diagnóstico precoz para poder realizar un correcto tratamiento de dicha lesión. Dentro de su espectro se encuentra el Queratoacantoma, el cual ha estado en debate sobre su origen y su benignidad. Nosotros presentamos la evolución clínica, tratamiento, resultados y revisión bibliográfica de un queratoacantoma.

Unique Case of Rare Non-Neural Granular Cell Tumor of the Rectus Abdominis Muscle.

Background and Objectives: Our report contributes a unique case of a non-neural GCT occurring in an unusual location, with its development during pregnancy adding to its rarity. Materials and Methods: Granular cell tumors (GCTs), also known as Abrikossoff's tumors, are rare neoplasms of Schwann cell origin with predominantly benign behavior. We present a case of a 29-year-old female with a non-neural variant of a GCT discovered incidentally during a cesarean section, situated on the posterior surface of the rectus abdominis muscle. Results: Histologically, the tumor exhibited features consistent with a benign non-neural GCT, confirmed through an immunohistochemical analysis. Despite the atypical presentation and challenging surgical removal due to prior scarring, the patient experienced no postoperative complications and showed no signs of recurrence during follow-up. Conclusions: This case highlights the importance of considering GCTs in differential diagnoses, particularly in unusual anatomical locations, and underscores the favorable prognosis associated with timely surgical intervention.

Primary Intraosseous Granular Cell Tumor of the Sphenoid and Central Skull Base in a Pediatric Patient.

BACKGROUND: Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl. CASE REPORT: A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base. The disease has remained stable after 36-month follow up. DISCUSSION: GCT primarily involving the osseous sphenoid/skull base has not been previously reported in a child. Although mostly benign, some are aggressive, with malignant transformation in 1-2%. Surgery is the mainstay of treatment, but in the skull base this may be limited by adjacent critical structures. Decision-making is guided by anatomic extent, histology, and clinical behavior.

Granular Cell Tumors of the Larynx: A Systematic Review.

OBJECTIVE: Granular cell tumor of the larynx is an uncommon, typically benign lesion that may be confused for a malignant neoplasm based on histopathology. This review examines cases of granular cell tumor of the larynx in adults to highlight key distinctions in diagnosis/management and demonstrate how misclassification may lead to unnecessary escalations in therapy. DATA SOURCES AND METHODS: A systematic search of PubMed, Ovid, and EBSCO Search Hosts was completed in December 2021. The search yielded 501 articles with 87 full-text articles included in the review. Primary search terms included granular cell, tumor, larynx, and adult. Primary endpoints were patient presentation, primary management, pathological features, and disease course. RESULTS: A systematic review of 87 articles identified 200 patients with granular cell tumors (GCTs) of the larynx. Of the 200 patients, 50.3% were males and 49.7% were females. Of these, 54.0% were reported as white patients, and 46.0% were reported as black patients. The most common presenting symptoms were dysphonia (85.9%) and stridor/dyspnea (14.1%). On examination, the lesions were most commonly polypoid/nodular and firm. Pseudoepitheliomatous hyperplasia (PEH) was identified in 33.5% of cases, and 2% of cases were malignant. GCTs were misdiagnosed as other malignant lesions in 11% of cases. In benign cases, 13.5% of patients underwent additional surgeries beyond simple excision/laryngofissure, including laryngectomy and neck dissection. Less than 2% of lesions reoccurred. CONCLUSION: Granular cell tumors of the larynx are typically benign lesions that may be misdiagnosed with unnecessary escalation of treatment. However, most lesions resolve via primary surgical excision. Laryngoscope, 134:1523-1530, 2024.

Pediatric granular cell tumor of the larynx: A case report and literature review.

An 8-year-old child was admitted to our ENT department for a year because of a hoarse voice. An endoscopic examination displayed that a cystic, solid lesion can be seen in the right subglottis. The lesion was removed using a CO2 laser under general anesthesia. Postoperative histopathology confirmed granular cell tumor (GCT), S-100(+), vimentin (+), and SOX-10(+). GCT, also known as the Abrikossoff tumor, is a rare benign tumor that rarely occurs in the larynx, particularly in children. This case report emphasizes that considerable attention should be given to the differential diagnosis of the laryngeal granulosa cell tumor. Given the recurrence risk of GCT, long-term postoperative follow-up is necessary.

Congenital Epulis: A Rare Head And Neck Tumor in the Newborn.

Congenital epulis is a rare tumor; when voluminous and ulcerated, appearance can generate concern. Nevertheless, it is a benign lesion that is easily treated with surgery. This is a retrospective study, with the presentation of 2 cases treated by the same team from 2016 to 2020 and a bibliographic review (PubMed and Elsiever). This surgical team is based in Buenos Aires, working in the private medical system. Congenital epulis is an infrequent, benign tumor affecting females predominantly, appearing at birth on the alveolar median ridge of the maxilla. Its pathogenesis is uncertain. Voluminous tumors interfere with feeding, but respiratory interference is exceptional. Histologically, this tumor is similar to the granular cell tumor but has different clinical characteristics and Periodic Acid Schiff stain. Prenatal diagnosis with ecographic or magnetic resonance imaging is ideal; if undiagnosed prenatally, clinical diagnosis is done based on typical features. Surgical excision is the treatment of choice.

Clinicopathological and immunohistochemical analysis of maxillofacial granular cell tumor.

OBJECTIVES: To analyze the clinicopathological features of maxillofacial granular cell tumors (GCT) with the aid of immunohistochemical staining. METHODS: Seven cases of maxillofacial GCT were retrospectively collated, and the microscopic morphology of maxillofacial GCT was analyzed. The expression of S-100, neuron-specific enolase (NSE), SOX-10, CD68, actin, desmin, and Ki-67 in GCT was detected by immunohistochemical staining. The cases were observed in the follow-ups after clinical treatment. RESULTS: All seven GCT tumors lacked envelopes and were poorly defined. Microscopically, the sizes of the tumor cells were large and appeared with inconspicuous cell membranes, forming a syncytium-like appearance. The cytoplasm was filled with characteristic eosinophilic granules. The immunohistochemical results showed that six cases were NSE-positive, five cases were S-100-positive, seven cases were CD68-positive, five cases were SOX-10-positive, one case was actin-positive, and seven cases were desmin-negative. The Ki-67 index did not exceed 5% in all cases. In the follow-up sessions, none of the six cases presented a recurrence. CONCLUSIONS: Maxillofacial GCT has a characteristic histological structure. Immunohistochemical S-100, CD68, and other indicators can assist in diagnosis, and the prognosis is good after clinical resection.

Clinical outcomes of esophageal granular cell tumors with different endoscopic resection methods.

Esophageal granular cell tumors (GCTs), the second most common subepithelial tumors (SETs) of the esophagus, are potentially malignant with no definite management guidelines available. We retrospectively enrolled 35 patients with endoscopically resected esophageal GCTs between December 2008 and October 2021 and evaluated the clinical outcomes from the various methods performed. Several modified endoscopic mucosal resections (EMRs) were performed for treating esophageal GCTs. Clinical and endoscopic outcomes were evaluated. Mean age of patients was 55.8 ± 8.2, with majority being men (57.1%). Mean tumor size was 7.2 ± 2.6 mm, most (80.0%) were asymptomatic and present in the distal third of the esophagus (77.1%). Endoscopic characteristics predominantly included broad-based (85.7%) and whitish-to-yellowish color changes (97.1%). Endoscopic ultrasound (EUS) of 82.9% of the tumors revealed homogeneous hypoechoic SETs originating from the submucosa. The five endoscopic treatment methods used were: ligation-assisted (77.1%), conventional (8.7%), cap-assisted (5.7%), and underwater (5.7%) EMRs and ESD (2.9%). Mean procedure time was 6.6 ± 2.1 min, and no procedure-associated complications were noted. The en-bloc and complete histologic resection rates were 100% and 94.3%, respectively. No recurrences were noted during follow-up, and no significant differences in the clinical outcomes of the different methods of endoscopic resection were found. Based on tumor characteristics and therapeutic outcomes, modified EMR methods can be effective and safe. However, there were no significant differences in the clinical outcomes of the different methods of endoscopic resection.

Granular cell tumour of the breast: A case report.

INTRODUCTION: Breast granular cell tumour (GCT) is a rare but usually benign lesion. PRESENTATION OF CASE: We report a case of a woman with breast GCT. CONCLUSION: Clinically and radiologically, GCT may mimic breast carcinoma. A conclusive diagnosis is made after a histopathological examination of the lesion. The treatment of choice is surgery.

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.

[Pulmonary granular cell tumors: a clinicopathological analysis of five cases].

Objective: To investigate the clinicopathological features of pulmonary granular cell tumors (pGCTs) and to improve the diagnostic accuracy of the tumor. Methods: A total of 5 pGCTs were diagnosed from February 2016 to January 2022 at Shanghai Pulmonary Hospital, Tongji University School of Medicine and Fudan University Shanghai Cancer Center, China. Immunohistochemical staining, and analysis of the clinicopathological characteristics were performed. Results: The average age of the pGCTs patients was 46 years (ranging from 24 to 54 years), with 3 females and 2 males. One case occurred in the bronchus with multiple nodules in the lung, 2 cases occurred in the bronchial opening, and 2 cases were solitary nodules in the lung. The maximum diameter of the tumors ranged from 12 to 15 mm (mean size 14 mm). Microscopically, the tumor showed infiltrative growth and consisted of round, oval or polygonal cells. Abundant eosinophilic cytoplasm was noted, and the nucleoli were prominent. None of the 5 cases showed any mitosis or necrosis. Immunohistochemical and histochemical study showed positive staining for S-100 (5/5), SOX10 (5/5), Vimentin (5/5), TFE3 (4/5), PAS (3/5), and amylase-digested-PAS (3/5), while 4 cases were negative for CD68. TFE3 FISH analyses on 2 cases showed that no signal abnormality was detected in these 2 cases. The average proliferation index of Ki-67 was 2.2% (range 0-5%). There was no recurrence in 4 cases of pGCTs with a follow-up time ranging from 2 months to 60 months. Conclusions: pGCTs are very rare tumors, most likely originating from Schwann cells. Immunohistochemical staining is the conventional diagnostic tool for pGCTs diagnosis. Recognition of this entity is essential for pathologists to avoid misdiagnosis and unnecessary treatments.