Granular Cell Tumor Research Articles

Granular Cell Tumors

GCTs (Granular Cell Tumors) are rare, uncommon STTs (Soft Tissue tumors) that may develop at any location in the human body. Though the initial one was identified first as a non-capsulated granular cell myoblastoma of the tongue, they are now identified immunohistochemically as principally of neural Schwann cell origin (S-100 marker positive). Still more rarely, non-neural GCTs are also described that are probably of mesenchymal origin (as evidenced by S-100 marker negativity and vimentin positivity). Though they are more common in females and black people in the third to sixth decades of life, no sex, no race, and no age group are immune to this disease. They are mostly benign and very rarely malignant. Exact history taking, physical examination and laboratory investigations, including histopathological, histochemical, and immunohistochemical examinations, are essential to arrive at a concrete diagnosis, as many other tumors (e.g., malignant melanoma, small cell lung cancer, etc.) in the body resemble GCTs both histologically (granularity) and by biological behavior (benign, malignancy, recurrency at primary and metastatic sites). Benign variants have clinical features depending on location and are universally cured by wide surgical excision. The malignant variant carries a worse prognosis. These rare GCTs are to be kept in mind always in the differential diagnosis of soft tissue swellings anywhere in the body. Their biological and pathological features, differential diagnosis, and therapeutic implications are discussed here, briefly reviewing the available literature.KYAMC Journal Vol. 14, No. 02, July 2023: 96-101.

Pediatric Laryngeal Granular Cell Tumor: Case Report and Literature Review.

Granular cell tumors (GCTs) are rare benign tumors that can occur in any part of the body. They are most commonly found in the head and neck region, especially the tongue. Laryngeal GCTs are rare, accounting for only 3% to 10% of all GCTs. This case report describes a 4-year-old boy with a laryngeal GCT. The patient presented with a history of hoarseness for 2 years. Stroboscopy revealed a large mass occupying the entire length of the left vocal cord. The mass was successfully removed by microlaryngeal surgery with laser ablation. The patient's symptoms resolved after surgery, and he had an uneventful recovery. This case highlights the importance of considering GCTs in the differential diagnosis of patients with hoarseness. Early diagnosis and treatment can lead to excellent outcomes.

Imaging findings of granular cell tumours of the head and neck

To review the imaging characteristics of granular cell tumours in the head and neck and assess their associations with pathological findings. Eleven patients (10 [91%] women, mean age 43 years) with histopathologically confirmed granular cell tumours were included in this study. Preoperative imaging studies were performed, including computed tomography (CT), magnetic resonance imaging (MRI), or ultrasound. The location of the tumours, their imaging features, and histopathological findings were analysed. Among the 11 granular cell tumours, four (36%), three (27%), and two (18%) tumours were found in the submucosal layer, subcutaneous layer, and intramuscular area, respectively. On CT, all tumours exhibited homogeneous iso-attenuating enhancement compared with adjacent muscle, and nine out of the 11 tumours (81%) demonstrated well-defined margins. On T2-weighted imaging (T2WI), four out of five tumours (80%) demonstrated iso-signal intensity compared with adjacent muscles, and four tumours (80%) exhibited homogeneous signal intensity. The apparent diffusion coefficient (ADC) values ranged from 0.68-0.81×10-3 mm2/s. Histopathological examination revealed densely packed tumour cells with variable amounts of fibrous stroma. Granular cell tumours were characterised by well-defined and iso-signals on T2WI and low mean ADC values, and were predominantly located in the submucosal, subcutaneous, or intramuscular areas in middle-aged women. The characteristic locations, demographic characteristics, and imaging findings can help to differentiate granular cell tumours from other soft-tissue tumours in the head and neck.

Granular cell tumor of soft tissues: MR findings

Granular cell tumors (GrCT) are histologically unique neoplasms that often manifest as painless solitary nodules located in the dermis or submucosal tissue. In this article we analyze the radiologic features of this type of tumor in five patients by magnetic resonance imaging (MRI), analyzing morphologic and signal characteristics. MR imaging findings were similar to other publications and we demonstrate low ADC values in our series.

Rare malignant tumors of the ovary during pregnancy: a clinical case report

This article describes a clinical case of a malignant ovarian neoplasm, which was first detected during an urgent visit of a pregnant woman with signs of fetal distress in the third trimester of pregnancy. The relevance of this problem lies in the possibility of early diagnosis of adnexal tumors during routine ultrasound screenings, the lack of definitive recommendations for the management of such patients and the limited range of treatment methods during pregnancy. The aim of the study is to demonstrate a clinical case of pregnancy with late-detected ovarian malignancy. A 39-year-old pregnant woman at 35 weeks and 4 days' gestation consulted the antenatal clinic of a city maternity hospital with complaints of a decrease in the number and change in the nature of fetal movements over the past 24 hours. After assessment of the fetal condition (cardiotocography, ultrasound), the woman was hospitalized with a diagnosis: Pregnancy III, 35 weeks and 4 days. Fetal distress in the antenatal period. Fetal growth restriction, stage I. Gestational hypertension without significant proteinuria. Multicompartmental cyst of the right ovary. An urgent cesarean section was performed. Clinical diagnosis: рremature delivery by cesarean section. Medical care for the mother with fetal growth restriction of the first degree, fetal distress in the antenatal period. Cyst of the right ovary. Right-sided adnexectomy. Omental resection. Gestational hypertension. On the 5th day, the patient was discharged in a satisfactory condition with a recommendation for further examination in an oncology hospital. Pathological examination of the right ovary: morphological picture, taking into account the results of immunohistochemical examination, in favor of undifferentiated carcinoma; on repeated viewing - granular cell tumor of the ovary of adult type. The patient was routinely hospitalized at the city oncology center for surgical treatment and further examination. Clinical diagnosis: Bl ovarii gr I, adult-type granulosa cell tumor, T1Nx Mx. Condition after surgical treatment: lower midline laparotomy. Pangisterectomy, omentectomy. Sampling of the retroperitoneal lymph nodes on the right. Sanitation and drainage of the abdominal cavity. Clinical group II. The results of this article are of great practical importance for obstetricians-gynecologists, general surgeons and ultrasound diagnosticians in the differential diagnosis of indirect signs of malignant tumors during pregnancy, in the need to examine all pelvic organs during routine ultrasound screening of pregnant women and in establishing cause and effect relationships in the diagnosis of obstetric complications.

A report of an unusual case of cartilaginous choristoma of the tongue and review

AbstractBackgroundChoristomas consist of the proliferation of normal cells or tissue in an abnormal location. Oral choristomas are considered very rare.AimsThe present study aims to report a case of dorsal tongue surface cartilaginous choristoma, with emphasis on its clinical and histopathological features.Case ReportA 72‐year‐old woman attended a dental office with a chief complaint of a persistent tongue lesion. The patient reported that the lesion grew slowly for about 3 months, with no trauma history in the region. An intraoral examination revealed a nodular lesion on the dorsal tongue surface, normal mucosa coloration, firm consistency and sessile implantation, measuring approximately 1.5 cm in diameter. Based on the clinical examination, a diagnosis hypothesis of a granular cell tumour was considered, and an excisional biopsy was performed for confirmation. Given the microscopic findings, the histopathological diagnosis confirmed a cartilaginous choristoma. The patient has been under follow‐up for 12 months, with no signs of relapse.ConclusionThis case highlights the importance of clinical and histopathological findings for the correct diagnosis and treatment of oral choristoma.

Approach to small biopsies in the larynx.

Small biopsies in the larynx can make a definitive diagnosis challenging due to the sampling or tangential sectioning. The differential diagnosis can be divided into mucosal lesions (squamous papillomas, intraepithelial dysplasia, and invasive squamous cell carcinoma) or submucosal lesions (vocal cord polyps/nodules, amyloidosis, granular cell tumor, rhabdomyoma, neuroendocrine neoplasms, salivary gland tumors, and cartilaginous tumors). Diagnostic criteria (both morphologic and immunohistochemical) are reviewed to arrive at a diagnosis even on small biopsy.

42081 Pediatric granular cell tumors: A case series with emphasis on the dermal non-neural variant

42081 Pediatric granular cell tumors: A case series with emphasis on the dermal non-neural variant

Granular Cell Tumor: An Unusual Cause of Common Peroneal Neuropathy

Granular cell tumors, also known as Abrikossoff’s tumors, are rare soft-tissue tumors, and their occurrence in the peripheral nerves has been very rarely reported. We present the case of a 35-year-old woman with common peroneal neuropathy due to a granular cell tumor, who complained of foot dragging. Common peroneal neuropathy was confirmed by electrophysiology. The tumor mass was observed using ultrasonography and magnetic resonance imaging. The tumor was surgically excised, the tumor cells stained positive for S-100, and eosinophilic granular cytoplasm was observed using microscopy. To the best of our knowledge, this is the first report of a granular cell tumor involving the common peroneal nerve.

Granular cell tumor: A rare presentation as intraconal orbital space occupying lesion

Granular cell tumor (GCT) is a rare benign soft tissue tumor. They have been reported in several regions of the body but mostly in the skin and subcutaneous tissue of head and neck. It may involve the orbit, periocular skin, lacrimal sac, optic nerve, ciliary body, conjunctiva and caruncle. Here we present a rare case of intraconal GCT in a 45 year old woman who presented with unilateral proptosis. She presented with forward protrusion of right eye for the past 3 months,MRI orbit revealed a well defined T1/T2/FLAIR hypointense lesion in the inferolateral aspect of intraconal compartment of right orbit. Transconjunctival excision of the lesion was done. Histopathological Examination (HPE) and immunohistochemistry confirmed the diagnosis of Granular cell Tumor.

Utility of sequencing for ATP6AP1 and ATP6AP2 to distinguish between atypical granular cell tumor with junctional component and melanoma.

Granular cell tumor (GCT) is a S100+ neoplasm with atypical and malignant variants. Similar to melanocytic neoplasms, the tumors make nests and can have junctional components raising a differential diagnosis of melanoma. Nevi and melanomas may also have granular cell cytoplasm. MelanA is useful in distinguishing melanocytic from granular cell lineage, but increasingly MelanA/SOX10 negative melanomas have been recognized by correlation with molecular methods. We encountered several cases with morphologic overlap between melanoma and atypical GCT necessitating additional molecular workup. We sequenced two cases and searched our archive for similar cases of GCT with overlapping features of melanocytic lineage. In our two index cases, we excluded melanoma driver mutations and identified frameshift or premature stop codons in ATP6AP1/2 pathognomonic of granular cell lineage. Data retrieved from Cosmic identified 24 melanomas with missense single nucleotide variants (SNVs) in ATP6AP1 but no frameshift or premature stop codons. Twenty-one melanomas had missense SNVs in ATP6AP2. One melanoma had a premature stop codon in ATP6AP2, but this lesion also had a melanoma-associated driver mutation NRASQ61K. We found 1 of 23 additional cases of GCT in our archives with a junctional component and no additional cases with maturation. Atypical and malignant GCT can have histopathologic overlap with melanoma. Frameshift and premature stop codons in ATP6AP1/2 are specific for granular cell lineage, and capable of excluding melanoma, in the absence of known melanoma-associated driver mutations.

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.

To analyze the clinicopathological features of maxillofacial granular cell tumors (GCT) with the aid of immunohistochemical staining. 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. 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. 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.

PRAME immunohistochemistry in soft tissue tumors and mimics: a study of 350 cases highlighting its imperfect specificity but potentially useful diagnostic applications.

Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used in pathology for the assessment of melanocytic neoplasms; however, knowledge of its expression patterns in soft tissue tumors is limited. PRAME immunohistochemistry (clone QR005) was assessed on whole tissue sections of 350 soft-tissue tumors and mimics (> 50 histotypes). PRAME immunoreactivity was evaluated as follows: 0 "negative" (0% positive cells); 1+ (1-25% positive cells); 2+ (26-50% positive cells); 3+ (51-75% positive cells), and 4+ "diffuse" (> 75% positive cells). PRAME was expressed in 111 lesions (0 benign, 6 intermediate malignancy, and 105 malignant), including fibrosarcomatous dermatofibrosarcoma protuberans (2/4, 0 diffuse), NTRK-rearranged spindle cell neoplasm (2/4, 0 diffuse), atypical fibroxanthoma (1/7, 0 diffuse), Kaposi sarcoma (1/5, 0 diffuse), myxoid liposarcoma (11/11, 9 diffuse), synovial sarcoma (11/11, 6 diffuse), intimal sarcoma (7/7, 5 diffuse), biphenotypic sinonasal sarcoma (3/3, 1 diffuse), angiosarcoma (10/15, 6 diffuse), malignant peripheral nerve sheath tumor (9/12, 4 diffuse), pleomorphic rhabdomyosarcoma (2/3, 2 diffuse), alveolar rhabdomyosarcoma (2/6, 0 diffuse), embryonal rhabdomyosarcoma (7/7, 4 diffuse), undifferentiated pleomorphic sarcoma (2/12, 1 diffuse), leiomyosarcoma (2/15, 1 diffuse), clear cell sarcoma of soft tissue (1/10, 0 diffuse), low-grade fibromyxoid sarcoma (1/5, 0 diffuse), Ewing sarcoma (2/10, 1 diffuse), CIC-rearranged sarcoma (8/8, 4 diffuse), BCOR-sarcoma (2/5, 1 diffuse), melanoma (20/20, 14 diffuse), and thoracic SMARCA4-deficient undifferentiated tumor (5/5, all diffuse). All tested cases of spindle cell lipoma, dedifferentiated/pleomorphic liposarcoma, dermatofibrosarcoma protuberans, solitary fibrous tumor, inflammatory myofibroblastic tumor, myxoinflammatory fibroblastic sarcoma, nodular fasciitis, myxofibrosarcoma, epithelioid hemangioendothelioma, atypical vascular lesion, hemangioma, lymphangioma, vascular malformation, papillary endothelial hyperplasia, GIST, gastrointestinal clear-cell sarcoma, malignant melanotic nerve sheath tumor, neurofibroma, schwannoma, granular cell tumor, alveolar soft part sarcoma, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, myoepithelioma, ossifying fibromyxoid tumor, angiomatoid fibrous histiocytoma, PEComa, dermatofibroma, pleomorphic dermal sarcoma, and chordoma were negative. PRAME shows imperfect specificity in soft-tissue pathology but may serve as a diagnostic adjunct in selected differential diagnoses that show contrasting expression patterns.

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.

Epidemiology, Genetics and Pathophysiology of Pituitary Tumors

Pituitary tumors or tumors of the sella turcica include pituitary neuroendocrine tumors, Rathke's cleft cysts, craniopharyngiomas, tuberculum sellae, planum sphenoidale meningiomas, germ cell tumors, and hypophysitis. In addition, some rare tumors, such as pituicytomas, granular cell tumors, spindle cell oncocytomas, and chordomas or chondrosarcomas, arise from the parasellar regions. The treatment strategy is completely different for each lesion; therefore, accurate diagnosis is essential.

Gene fusions in superficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts.

Cutaneous mesenchymal neoplasms are diagnostically challenging because of their overlapping morphology, and, often, the limited tissue in skin biopsy specimens. Molecular and cytogenetic techniques have identified characteristic gene fusions in many of these tumor types, findings that have expanded our understanding of disease pathogenesis and motivated development of useful ancillary diagnostic tools. Here, we provide an update of new findings in tumor types that can occur in the skin and superficial subcutis, including dermatofibrosarcoma protuberans, benign fibrous histiocytoma, epithelioid fibrous histiocytoma, angiomatoid fibrous histiocytoma, glomus tumor, myopericytoma/myofibroma, non-neural granular cell tumor, CIC-rearranged sarcoma, hybrid schwannoma/perineurioma, and clear cell sarcoma. We also discuss recently described and emerging tumor types that can occur in superficial locations and that harbor gene fusions, including nested glomoid neoplasm with GLI1 alterations, clear cell tumor with melanocytic differentiation and ACTIN::MITF translocation, melanocytic tumor with CRTC1::TRIM11 fusion, EWSR1::SMAD3-rearranged fibroblastic tumor, PLAG1-rearranged fibroblastic tumor, and superficial ALK-rearranged myxoid spindle cell neoplasm. When possible, we discuss how fusion events mediate the pathogenesis of these tumor types, and we also discuss the related diagnostic and therapeutic implications of these events.

Endoscopic full-thickness resection of a residual scar in ascending colon to assess post-EMR complete removal of an Abrikossoff tumor

Endoscopic full-thickness resection of a residual scar in ascending colon to assess post-EMR complete removal of an Abrikossoff tumor

Abrikossoff’s tumor in a 23-year-old womanunsuccessfully treated with cryosurgery

<b>Introduction:</b> Abrikossoff’s tumor (AT), also known as granular cell tumor or granular cell myoblastoma, is a rare and usually benign neoplasm. It can occur anywhere in the body, but the tongue is the most often reported location.</br></br> <b>Aim:</b> To describe a diagnostically difficult case of Abrikossoff’s tumor.</br></br> <b>Case report:</b> A 23-year-old woman presented primarily to the dermatology clinic due to hidradenitis suppurativa (HS) lesions located in the right groin. During the medical interview, she additionally reported a “tongue scar” that had been present for the past 3 years. The patient was overweight and had 5-year smoking history (5 pack-years). The physical examination revealed a well-circumscribed, painless mucosal nodule of fibrous texture on the right border of the tongue. The nodule on the tongue had been ineffectively treated with cryosurgery. A biopsy was taken from the lesion. The patient was later referred to the otolaryngology unit, where a radical excision and diagnostic imaging were performed.</br></br> <b>Discussion:</b> The histological results from the biopsy were significant for AT, with positive immunohistochemical staining for S-100. While surgical excision remains the best therapeutic approach for AT, cryosurgery seems to be ineffective. It is difficult to distinguish between the benign and malignant forms of AT based solely on a histopathological picture. Therefore, patients with AT should have further diagnostics performed to exclude the potential of a malignant tumor.</br></br> <b>Conclusion:</b> Clinicians should be aware of AT when examining patients with nodular, painless, and well-demarcated mucosal lesions on the tongue. Surgical excision is the best treatment option for AT.

Granular cell tumor: rare presentation in pediatric age

Granular cell tumor: rare presentation in pediatric age