Benign Mesenchymal Tumors Research Articles

Desmoplastic Fibroblastoma (Collagenous Fibroma) of the Knee: A Case Report and Literature Review.

Desmoplastic fibroblastoma, also known as collagenous fibroma, is a rare benign mesenchymal neoplasm that primarily arises in the subcutaneous tissue of upper extremities and limb girdles. The knee is an uncommon location for desmoplastic fibroblastoma. Recent studies have demonstrated the presence of immunoreactivity for FOS like 1 (FOSL1) and rearrangements of FOSL1. A 70-year-old woman presented with a 1-year history of a palpable mass in the medial aspect of the right knee. Physical examination revealed a 4-cm, elastic hard, mobile, nontender mass. Magnetic resonance imaging (MRI) showed a well-defined mass with prominent low signal intensity on all pulse sequences. Contrast-enhanced MRI demonstrated mild internal enhancement with rim enhancement. After an open biopsy, the lesion was successfully treated by complete excision. Histologically, the tumor was composed of bland spindle or stellate-shaped cells embedded in an abundant collagenous stroma. Immunohistochemically, the tumor cells showed diffuse nuclear positivity for FOSL1. These findings were consistent with a diagnosis of desmoplastic fibroblastoma. The patient was asymptomatic and there was no evidence of local recurrence eight months after surgery. Desmoplastic fibroblastoma is a distinctive benign soft-tissue tumor with FOSL1 immunoreactivity and should be clearly distinguished from more biologically aggressive mesenchymal neoplasms.

Ultrasound-guided core-needle biopsy for extra-ocular orbital soft tissue tumours: a minimally invasive alternative to surgical biopsy

PurposeTo assess the feasibility, accuracy, and safety of ultrasound (US)-guided coaxial core-needle biopsy (CNB) for histomolecular diagnosis of extra-ocular orbital soft tissue tumours as a minimally invasive alternative to surgical biopsy. MethodsThis retrospective study was conducted at a single Comprehensive Cancer Center and included all consecutive patients referred to our center between 2015 and 2023 for the diagnosis and treatment of orbital soft tissue tumours. All patients underwent US-guided transconjunctival coaxial CNB using a semiautomatic 18-gauge biopsy gun. Pathological analysis included morphological analysis, immunostainings, and molecular biology techniques when required. ResultsA total of 26 patients were included consisting of 21 adults (median age: 64 years, range: 24-93 years), 1 adolescent (17 years), and 4 children (aged 4 weeks, 5 weeks, 26 months, and 6 years). Tumour largest diameters ranged from 11 to 57 mm (median 23 mm). The overall feasibility of CNB was 88% (23/26), and it was 100% (5/5) in children. The histological accuracy was 91% (21/23), and its safety was 96% (25/26). Molecular biology analyses were requested in 9 out of 23 cases and were successful in all instances. The final diagnoses included hematological malignancies (n = 8), carcinomas (n = 5), metastases (n = 4), sarcomas (n = 4), and benign mesenchymal tumours (n = 5). ConclusionsThis study supports the use of US-guided coaxial CNB for the pathological and molecular diagnosis of orbital soft tissue tumours in both children and adults. This technique shows promise as a minimally invasive alternative to open surgical biopsy.

Lipoma of the Parotid Gland Extending from the Superficial to the Deep Lobe: Case Report

Lipoma is a benign mesenchymal tumor composed largely of fat tissue. It is one of the most common of all neoplasms, but its occurrence in the parotid gland is extremely rare.

Tumor-induced phosphopenic osteomalacia: modern approaches to diagnostics and treatment

Phosphopenic osteomalacia (PPOM) is a rare variant of paraneoplastic syndrome caused by tumor synthesis of fibroblast growth factor 23 (FGF23). FGF23 secretion leads to a decrease in phosphate reabsorption and calcitriol levels, which leads to the development of severe hypophosphataemia and hypocalcaemia. FGF23 synthesis is predominantly associated with benign mesenchymal tumors, but has also been described in malignant neoplasms. The main clinical manifestations of PPOM are generalized myalgias and myopathy, ostealgia, pathological fractures, etc. The diagnosis of the disease requires a step-by-step investigation using somatostatin receptor-based imaging techniques, as these have the highest sensitivity for the detection of neoplasms causing osteomalacia. Surgical intervention is clearly the treatment of choice. Promising non-surgical methods include treatment with burosumab and somatostatin analogues.

ЭКСТРАНАЗОФАРИНГЕАЛЬНАЯ АНГИОФИБРОМА. ДВА КЛИНИЧЕСКИХ СЛУЧАЯ

Juvenile angiofibroma is a rare benign mesenchymal tumor, morphologically representing a vascular proliferation in a cellular, densely collagenized stroma, usually occurring in the nasopharynx, more often in adolescent boys. Recently, an increasing number of articles have been publishedon the so-called extranasopharyngeal angiofibroma (ENA), which can occur in both boys and girls. This article describes the clinical course of ENA and presents two clinical cases of extranasopharyngeal angiofibroma.

Diagnostic and therapeutic strategies for an evolving large jugal lipoma: a comprehensive case study

Lipoma, the most common benign mesenchymal neoplasm in soft tissues, is characterized by the localized growth of fat cells. In the oral cavity, lipomas typically present as well-defined, slow-growing, solitary submucosal nodules that are painless. They are generally easily diagnosed clinically, although there is a possibility of confusion with other neoplasms in the oral cavity In the cervicofacial area, lipomas account for 13% to 20% of cases, with the posterior cervical region being the most frequently involved. A 45-year-old male patient with an unremarkable medical history presented with a slowly evolving left jugal swelling that had been persistent for eight years. CT scan performed without any sign of infiltration. Surgical excision was done and histopathological exam has confirmed a lipoma. Infiltrative lipomas require particular attention, and it is advisable to remove them with a margin of healthy tissue to prevent recurrence. This strategy aims to ensure complete removal of the tumor and reduce the risk of its return. Keywords: Lipoma, Case report, Benign, Unesthetic, Sub-Saharan Africa.

Acral Fibrochondromyxoid Tumor: A Clinicopathologic and Molecular Genetic Study of 37 Cases

Acral fibrochondromyxoid tumor (AFCMT) is a recently described likely benign mesenchymal neoplasm arising in the distal extremities with distinctive histologic features and a recurrent THBS1::ADGRF5 fusion. We studied an additional 37 cases of AFCMT and expanded on the so-far reported clinicopathologic and molecular findings. Tumors occurred in 21 females and 16 males, ranging in age from 17 to 78 years (median age: 47), and solely involved the hands (24/37, 65%) or feet (13/37, 35%). Histologic examination revealed well-delineated uni- or multinodular tumors with prominent vasculature-rich septa and bland, chondrocyte-like tumor cells set within abundant chondromyxoid stroma. Immunohistochemical studies showed that tumor cells were positive for CD34 (25/27; 93%) and ERG (27/27; 100%), whereas negative for S100 protein (0/31). Molecular analysis revealed evidence of a THBS1::ADGRF5 fusion in 17 of 19 (89%) successfully tested tumors. Clinical follow-up was available in 8 cases (median: 97 months), with multiple local recurrences in 1 case at 276, 312, and 360 months. We conclude that AFCMT is a distinct entity with reproducible morphologic, immunohistochemical, and molecular genetic features that should be differentiated from other similar appearing acral mesenchymal neoplasms.

Cellular angiofibroma of the female pelvic cavity: a case report

BackgroundCellular angiofibroma is a rare benign mesenchymal tumor that mostly occurs in the genital area. Its occurrence outside this region, particularly in the pelvis, is extremely rare. To our knowledge, this study reports the first case of cellular angiofibroma occurring in the pelvic cavity, except for one case reported in the retroperitoneum.Case presentationA 25-year-old female patient with chronic, intermittent, dull pain in the lower abdomen that lasted for several months was referred to our clinic. Imaging studies revealed a tumor in the pelvic cavity anterior to the bladder. The radiographic characteristics of this tumor indicated a hypervascular nature, suggesting the possibility of a pheochromocytoma or a neuroendocrine tumor. The patient underwent surgical excision of the lesion. To date, no recurrence has been observed four months after excision.ConclusionsCellular angiofibroma, although rare in the pelvic cavity, should be considered in the differential diagnosis of hypervascular pelvic space-occupying lesions. Immunohistochemical staining can help confirm the diagnosis of this condition. Treatment is generally straightforward, involving local excision of the tumor followed by postoperative monitoring.

Comments and illustrations of the European Federation of Societies for Ultrasound in Medicine contrast-enhanced ultrasound guidelines: Multiparametric imaging and EUS-guided sampling in rare pancreatic tumors. Benign mesenchymal pancreatic tumors.

The focus of the review is on primary benign mesenchymal pancreatic tumors and their imaging appearance. These tumors are extremely rare. Usually, they are not diagnosed until postoperative histology is available, and so even benign tumors have undergone extensive pancreatic resection. The very limited data on abdominal and EUS findings including contrast-enhanced techniques of these pancreatic lesions are summarized here. Case reports will be presented for some of these rare tumors with application of modern ultrasound and endosonographic techniques.

Genetic Heterogeneity in Cellular Angiofibromas.

Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma. Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing. The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSB::PLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHG::PLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2. This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.

Inflammatory fibroid polyps of small and large intestine: Report of two cases

Inflammatory fibroid polyps (IFPs) are uncommon benign solitary mesenchymal neoplasms which may develop anywhere in the gastrointestinal tract. These submucosal lesions can occur in individuals of any age but are more frequently observed in the 6th or 7th decade of life. Although rarely associated with adenoma or adenocarcinoma, IFPs are typically managed through local excision. The clinical presentation varies depending on the anatomical location of the polyp. Gross examination typically reveals localized submucosal sessile polypoidal masses. Microscopically, IFPs are characterized by inflammatory cell infiltrate, spindle shaped cells and prominent capillaries. These benign lesions have unknown pathogenesis. Below mentioned are two case report of inflammatory fibroid polyps which lead to intussusception.

Comments and illustrations of the European Federation of Societies for Ultrasound in Medicine contrast-enhanced ultrasonography guidelines: multiparametric imaging and EUS-guided sampling in rare pancreatic tumors. Mesenchymal pancreatic tumors of intermediate biological behaviour.

The focus of the review is on mesenchymal pancreatic tumors with intermediate biological behavior and their imaging appearance. Similar to benign and malignant mesenchymal pancreatic tumors, these tumors are extremely rare. The diagnosis is often confirmed only by postoperative histology. The very limited data on abdominal ultrasound and EUS findings including contrast-enhanced techniques of these pancreatic lesions are summarized here.

Pedunculated Angiomyofibroblastoma of Labia Minora: A Case Report and Review of the Literature

Background: Angiomyofibroblastoma was first described by Fletcher et al. in the year 1992. It is a distinctive benign tumor that most often occurs in the superficial area of the vulva and is rarely reported in men in the inguinoscrotal region. Case Presentation: A 23-year-old female presented with a painless pedunculated labial mass which was initially pea-sized and reached 7 cm in maximum dimension over four months. The case was diagnosed on morphology, IHC and the patient was treated surgically. The interesting feature of the case was the rarity of its incidence at labia minora and pedunculated form and its resemblance to other benign and more aggressive tumours. To the best of our knowledge, the extensive English literature search revealed only seven cases of pedunculated angiomyofibroblastoma at labia majora in middleaged female and one case of labia minora in a young female. Conclusion: The lesion must be differentiated from another benign mesenchymal tumor of vulva which requires extensive surgical management.

Myofibroma with Atypical Features can Mimic Low-Grade Myofibroblastic Sarcoma: Two Paediatric Cases.

Myofibroma is a rare benign mesenchymal tumor that frequently affects the pediatric population with a predilection for the head and neck region. About 10% of myofibroma cases, presenting atypical features, can be misinterpreted as low-grade myofibroblastic sarcoma (LGMS), with therapeutic and prognostic impact. Here, we report two pediatric cases of benign myofibroblastic tumors, one of them showing typical characteristics of myofibroma, the other was an atypical myofibroma, which initially mimicked low-grade myofibroblastic sarcoma. Atypical myofibromas, despite its distinctive characteristics, follow a benign course, similar with typical myofibroma. It is necessary to distinguish atypical myofibroma from low-grade myofibroblastic sarcoma and avoid unnecessary invasive therapy.

Differential diagnosis of primary mesenchymal neoplasms of the breast.

While the majority of breast neoplasms originate from epithelial cells, a rare part of them originate from mesenchymal breast tissue. This study aims to present the histomorphological and clinicoradiological features of our series of primary mesenchymal breast tumors and to discuss the features of these tumors in light of the literature. Cases diagnosed as primary mesenchymal breast tumor in breast resection materials evaluated in our center between 2010 and 2023 were included. Of the 26 tumors included, 57.7% were diagnosed as benign and 42.3% as malignant mesenchymal tumor. Cases diagnosed as benign mesenchymal tumor were hemangioma, lipoma, extra-abdominal fibromatosis, leiomyoma, angiofibroma, lipomatosis, benign fibrous histiocytoma and granular cell tumor. Histopathological study results were compatible with angiosarcoma in 5 (45.4%), undifferentiated sarcoma in 3 (27.3%), myxofibrosarcoma in 2 (18.2%) cases and rhabdomyosarcoma in 1 (9.1%) case. Primary breast sarcomas are rarely seen compared to benign mesenchymal tumors and constitute less than 0.1% of all malignant breast tumors. When histomorphological findings suggestive of a mesenchymal tumor are observed in breast specimens, sufficient sampling should be performed to exclude a possible phyllodes tumor, and clinicoradiological findings should be examined to exclude the possibility of a metastasis.

Laryngeal chondromas: Current knowledge and future directions.

Cartilaginous tumors of the larynx are rare, representing less than 1% of all laryngeal tumors. Chondromas are benign mesenchymal tumors characterized by a slow-paced growth, primarily originated in the cricoid cartilage, followed by the thyroid, arytenoid, and epiglottic cartilages. This scoping review aims to understand the extent of evidence on the epidemiology, clinical characteristics, morbidity, and recurrence of the laryngeal chondroma (LC). MEDLINE (Ovid), Embase (Elsevier), Web of Science (Clarivate), Cochrane Central Register of Controlled Trials and Systematic Reviews, Lilacs, Scopus, and Google Scholar databases. The scoping review was conducted from 1816 to 2023, for observational studies describing LC. Titles and abstracts were screened for relevance, followed by an evaluation of the full text for eligibility. The data were collected from the qualifying articles, and a narrative summary of the outcomes was prepared. One hundred and nineteen studies met the inclusion criteria. Ninety-four case reports, 22 case series, and 3 cohorts. Two hundred and four participants with a diagnosis of LC were described. Male:female ratio was 2.8:1. The most common localization was the cricoid (113; 47.08%), followed by the thyroid (45; 18.75%), and the arytenoid cartilage (27; 11.25%). Dyspnea (78.85%) and hoarseness (74.28%) were the most reported symptoms. The recurrence rate was 11.25%, and complications were uncommon following the resection. This scoping review found a low-frequency rate over all the cartilaginous laryngeal tumors. Most patients were treated with resection, with a low rate of malignancy conversion. This population has low attributable mortality, morbidity, and recurrence according to the current literature.

Lipomas of the oral cavity

INTRODUCTION. Lipomas are benign mesenchymal tumors consisting of mature adipocytes. They are classified according to their histological picture, localization in the oral cavity and the type of tissues involved in the pathological process.The OBJECTIVE was to present the clinical case and literature review.MATERIALS AND METHODS. We conducted the search in the PubMed database for the last 86 years (1937–2023) with keywords «oral lipoma» or «tongue lipoma».RESULTS. We reviewed 60 articles with 77 identified lipomas. The most publications were represented by the USA (n=10, 16.39%) and India (n=10, 16.39%). We found out that the average age was 51.38 years (51.38±15.57); and most of them occurred over 50 years old. Lipomas are mainly localized on the mucous membrane of the cheek (n=24, 31.17%), then on the tongue (n=17, 22.8%) and in other places. The most common histological picture was spindle cell lipomas (n=13, 27.66%), followed by fibrolipomas (n=8, 17.02%) and other types.CONCLUSIONS. Lipomas are relatively rare neoplasms of the oral cavity. chronic traumatization of the oral mucosa is the predisposing factor for lipoma development. Preventive examinations every six months is recommended, if a patient has dental constructions. Any formation removed from the oral cavity is subjected to histological verification.

Giant fibroepithelial breast polyp

Introduction: Fibroepithelial polyps are common benign skin lesionsrarely noted in the female nipple. In this location, they have the potentialto ulcerate and cause bloody discharge.Case history: A 55-year-old female patient presented to a breast clinicwith a left nipple lesion present since childhood. The patient self-reportedthat the lesion had increased in size. Clinical examination revealed a 9 ×7 cm lesion with a soft and pliable stem extending from the left nipple.Mammography from 2017 revealed this previously measured 6 × 6 cm.An excision biopsy under general anaesthetic preserving the nippleanatomy was undertaken on 18/8/23. There were no immediate or subsequentcomplications. The final histology demonstrated the excised specimenweighed 131 g and measured 90 × 70 × 60 mm with an 8 mm base.The specimen was processed and microscopically found to be a giantfibroepithelial polyp (FEP). The central core of the lesion was formed byexcessive collagen deposition. Normal dermal structures including bloodvessels were still present with no glandular component and there was noevidence of atypia or malignancy.Discussion: FEPs are benign dermal mesenchymal tumours also knownas acrochordons. They are noted most commonly on the neck, axilla,perineum, and thighs but have also been found in the vagina, vulva, orcervix and present in < 2% of cases in the nipple area.FEPs rarely grow larger than 5 cm, with larger lesions rarely reportedin medical literature worldwide. It is possible to excise these lesions andpreserve the nipple anatomy with careful surgical planning.

Laparoscopic Enucleation of an Extravesical Bladder Leiomyoma: A Case Report

BackgroundThe management of leiomyomas, the most common benign mesenchymal tumours, remains highly debated. This case report presents the first laparoscopic enucleation of an extravesical bladder leiomyoma in Indonesia.Case presentationA 48-year-old man presented with a lower abdominal mass. An abdominopelvic computed tomography scan showed a solid tumour mass in the right anterolateral wall of the bladder. To excise the mass, it was planned for the patient to undergo laparoscopic enucleation. The mass was removed intact, and a frozen section was taken to determine the malignancy profile. Histopathological examinations, followed by immunohistochemical examinations, confirmed the diagnosis of leiomyoma.ConclusionsLaparoscopic enucleation is a promising option for managing bladder masses. It is a minimally invasive procedure with optimal results for preserving bladder function. Prior to the surgery, imaging studies and cystoscopy examination are mandatory.

A Novel Case of Cervical Lipoma Arising From Surgical Incision.

Lipoma is a benign mesenchymal tumor primarily found in subcutaneous fat. Post-traumatic lipoma (PTL) sporadically associates with blunt of penetrating trauma, but the exact mechanism remains not fully understood. This article unveils a rare case of a 32-year-old male presenting with a cervical lipoma at a previous surgical incision, an unprecedented occurrence. The patient incidentally detected the mass and underwent complete excision, with pathology confirming the diagnosis. The etiology of PTL remains speculative, with proposed mechanisms postulating inflammatory chemokines inducing preadipocyte differentiation and acute trauma causing septal rupture, allowing lipoma formation. Notably, the prior use of blade in our patient's surgical procedure aligns with this hypothesis. The varied nature of trauma encompasses acute, blunt, and penetrating injuries. This case represents the second instance attributed to penetrating trauma and the first occurrence at a surgical incision site.