Benign Soft Tissue Tumors Research Articles

Localized tenosynovial giant cell tumor : Results from the Histopathological Arthritis Register of the German Society for Orthopedic Rheumatology

The tenosynovial giant cell tumor (pigmented villonodular synovitis) is aproliferative, mainly benign soft tissue tumor of the tendon sheaths, bursae and joints arising from the synovia. It can be divided into circumscribed localized and destructive diffuse types. Approximately 1% of all joint diseases are due to this entity. The tumor is considered as ararity. Mostly case studies exist. For this study the focus was set on the localized type (L-TSRZT), which accounts for 90% of the diagnoses of this tumor. Given its rarity, data are limited. Therefore, the research aim was to provide data on prevalence, primary location and sensitivity of clinical versus histopathological diagnosis in aGerman sample. Based on the Histopathological Arthritis Register of the German Society for Orthopedic Rheumatology, the data of the L‑TSRZT were retrospectively analyzed (time frame 1 January 2018-28 December 2020). This database contained N = 7595 cases of arthropathy. Atotal of n = 45patients with the diagnosis L‑TSRZT were identified. The prevalence of the tumor was 0.6%, 95% CI [0.4%, 0.8%], or 5.9cases per 1000. The primary location involved the finger (48.9%). In 14of 45cases the diagnosis was correctly determined from the clinical side, corresponding to asensitivity of 31.1%, 95% CI [18.2%, 46.7%]. For the first time, this paper was able to provide data on alarge sample for Germany. Notably, the low sensitivity of the clinical diagnosis confirms the importance of histopathology for diagnosing L‑TSRZT.

AKURASI DIAGNOSTIK NILAI ADC MRI DALAM MEMPREDIKSI TUMOR JARINGAN LUNAK JINAK DAN GANAS BERDASARKAN HASIL PEMERIKSAAN HISTOPATOLOGI

ABSTRACT
 DWI with ADC mapping adds value to conventional MRI imaging by offering assessment of cellularity functionality with the potential to help differentiate between benign and malignant lesions. The aim of this study is to assess the accuracy of the ADC value MRI in predicting soft tissue tumors benign and malignant. This study was carried out by the Radiology Installation of Wahidin Sudirohusodo Hospital from February 2020 to August 2022 with a sample of 36 people and an age range of 9-74 years. The statistical method used was to calculate the value of sensitivity, specificity, Positive Predictive Value and Negative Predictive Value to assess accuracy as well as ROC and Mann Whitney tests. The results show that it consists of 36 samples with soft tissue tumors (malignant: 25 samples and benign : 11 samples). The mean value of ADC for malignant soft tissue tumors is 0.998 ± 0.526 x 10-3mm2/s and benign is 1.705 ± 0.665 x 10-3mm2/s. With a Cut Off value to distinguish malignant and benign soft tissue tumors of 1,265 x 10-3 mm2/s, with a sensitivity of 81.8%, specificity of 80%, Positive Predictive Value 64.3%, Negative Predictive Value 90.9%, Accuracy 80.5% and AUC 0.81. The accuracy of the ADC MRI value is 80.5%, indicating that the ADC value can be used as an additional modality to help predict benign and malignant soft tissue tumors.
 
 Keywords: Soft tissue tumor, MRI, DWI, ADC, Histopathology

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.

Lipoma Arborescens Might Be an Unusual Cause of Knee Pain in Adolescents: A Case Report

Lipoma arborescens (LA) is a rare benign soft tissue tumor characterised by a hyperproliferation of villi and fat cells in the joint synovium. It is most frequently localized in the knee as reported here. This is a case report of a 16-year-old adolescent, affected by type I diabetes mellitus, who reported left knee pain and functional limitation to medical attention. She performed a physical examination, MRI and biopsy using an arthroscopic approach, leading to the LA diagnosis and classification. The LA has been thus treated with an arthroscopic synovectomy, which is the treatment of choice for LA, characterized by a low recurrence rate.

Mast Cell and VEGF Profile in Canine Soft Tissue Tumors

Canine soft tissue sarcomas are a complex group that is difficult to treat with high invasion and metastasis characteristics. These tumors are divided into a wide variety of subtypes, but due to their general mesenchymal characteristics and morphological similarities, they are under a single group called soft tissue tumors together with benign ones. Tumor microenvironment including mast cells promotes tumor angiogenesis, proliferation, invasion, and metastasis, as well as mediating the mechanism of therapeutic resistance. In this study, the presence and relationships of mast cells with VEGF in benign and malignant soft tissue tumors were evaluated. As a result, mast cells showed a significant increase in malignant tumors compared to benign ones. In the VEGF analyzes performed for interpreting of angiogenesis, the immunostaining scores were also higher in malignant tumors. To the authors' knowledge, there is no previous study investigating mast cells and angiogenesis in canine soft tissue tumors. This study revealed that mast cell and VEGF scores are higher in malignant tumors compared to benign ones and can be considered as a prognostic marker. However, any correlation between mast cells and VEGF immune expressions could not be detected.

Neutrophil-, Monocyte- and Platelet-to-Lymphocyte Ratios, and Absolute Lymphocyte Count for Diagnosis of Malignant Soft-tissue Tumors.

Soft-tissue tumors are difficult to differentiate as benign or malignant. Immune markers, such as the neutrophil-lymphocyte ratio (NLR), monocyte-lymphocyte ratio (MLR), platelet-lymphocyte ratio (PLR), and absolute lymphocyte count (ALC) in serum, have been reported to be useful in the diagnosis and predicting prognosis of several malignancies. We investigated the diagnostic value of these immune markers in differentiating soft-tissue tumors. A total of 692 patients who underwent biopsy or surgery of soft-tissue tumors were included and divided into benign tumor, low-grade malignancy, or high-grade malignancy groups. Immune markers were calculated from the preoperative blood tests and compared between the groups. A receiver operating curve (ROC) analysis was conducted between the benign disease group and a combination of the groups with malignancy to determine which immune marker had the most diagnostic value. NLR and MLR were significantly different between the three groups with benign disease having the lowest value and high-grade malignancies the highest. Benign disease was also associated with lower PLR and higher ALC. There was no difference between the low- and high-grade malignancies in PLR and ALC. From the ROC analysis, NLR had the highest area under the curve (AUC) value of 0.773 out of the four markers. When limited to small tumors (≤30 mm), NLR had the highest AUC value of 0.729. The NLR showed the highest diagnostic value, although the diagnostic ability was not adequately high to differentiate benign and malignant soft-tissue tumors alone. NLR may serve as diagnostic support in combination with clinical history, physical findings, and tumor-imaging results.

GRANULAR CELL TUMOR IN AN UNUSUAL LOCATION AFFECTING A PEDIATRIC PATIENT: CASE REPORT

Granular cell tumor (GCT) is a rare benign soft-tissue neoplasm of Schwann-cell origin. It most often affects the tongue, followed by floor of the mouth and buccal mucosa, mainly in adult women. A 13-year-old male patient was referred for evaluation of a lesion on the upper lip. Intraoral examination showed a painless sessile nodule, normal color, measuring 1.0 × 0.5 cm, with several months of evolution. Diagnostic hypotheses included neurofibroma, pleomorphic adenoma, and canalicular adenoma. An excisional biopsy was performed, and histopathologic analysis revealed a well-defined proliferation of eosinophilic granular cells, with no typical pseudo-epitheliomatous hyperplasia, and perineural involvement. Immunohistochemistry showed positivity for vimentin, S100, CD56, and CD68. The diagnosis was GCT. After one year of follow-up, the patient showed no signs of recurrence or alterations. GCT is extremely rare, affecting the upper lip in pediatric patients; therefore, it should be considered in the differential diagnosis of lip nodular lesions. Granular cell tumor (GCT) is a rare benign soft-tissue neoplasm of Schwann-cell origin. It most often affects the tongue, followed by floor of the mouth and buccal mucosa, mainly in adult women. A 13-year-old male patient was referred for evaluation of a lesion on the upper lip. Intraoral examination showed a painless sessile nodule, normal color, measuring 1.0 × 0.5 cm, with several months of evolution. Diagnostic hypotheses included neurofibroma, pleomorphic adenoma, and canalicular adenoma. An excisional biopsy was performed, and histopathologic analysis revealed a well-defined proliferation of eosinophilic granular cells, with no typical pseudo-epitheliomatous hyperplasia, and perineural involvement. Immunohistochemistry showed positivity for vimentin, S100, CD56, and CD68. The diagnosis was GCT. After one year of follow-up, the patient showed no signs of recurrence or alterations. GCT is extremely rare, affecting the upper lip in pediatric patients; therefore, it should be considered in the differential diagnosis of lip nodular lesions.

Lipoblastoma-Like Tumor and Fibrosarcoma-Like Lipomatous Neoplasm Represent the Same Entity: A Clinicopathologic and Molecular Genetic Study of 23 Cases Occurring in Both Men and Women at Diverse Locations

Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of “fibrosarcoma-like lipomatous neoplasm” (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which “LLT” seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.

Presentation of Myopericytoma in the Lower Leg: A Case Report with a Brief Review of the Literature

Myopericitoma is a rare benign tumor of soft tissue that emerges from perivascular smooth tissue. Myopericitoma primarily derives from soft tissue and skin of the inferior extremities and is rarely found in internal organs. Considering the rare encounter with this neoplasia, it is often misdiagnosed as lipoma or atheroma. Our patient presents with a lump in the lateral region of the Achilles tendon on the right side. On inspection, a small, painful lump of approximately 5 mm×5 mm is noticed without cutaneous changes. In histopathologic examination, branched blood vessels are detected with a characteristic “hemangiopericytoma look-alike” appearance surrounded by prolonged myoid cells.

Ensemble learning-based radiomics with multi-sequence magnetic resonance imaging for benign and malignant soft tissue tumor differentiation.

Many previous studies focused on differentiating between benign and malignant soft tissue tumors using radiomics model based on various magnetic resonance imaging (MRI) sequences, but it is still unclear how to set up the input radiomic features from multiple MRI sequences. Here, we evaluated two types of radiomics models generated using different feature incorporation strategies. In order to differentiate between benign and malignant soft tissue tumors (STTs), we compared the diagnostic performance of an ensemble of random forest (R) models with single-sequence MRI inputs to R models with pooled multi-sequence MRI inputs. One-hundred twenty-five STT patients with preoperative MRI were retrospectively included and consisted of training (n = 100) and test (n = 25) sets. MRI included T1-weighted (T1-WI), T2-weighted (T2-WI), contrast-enhanced (CE)-T1-WI, diffusion-weighted images (DWIs, b = 800 sec/mm2) and apparent diffusion coefficient (ADC) maps. After tumor segmentation on each sequence, 100 original radiomic features were extracted from each sequence image and divided into three-feature sets: T features from T1- and T2-WI, CE features from CE-T1-WI, and D features from DWI and ADC maps. Four radiomics models were built using Lasso and R with four combinations of three-feature sets as inputs: T features (R-T), T+CE features (R-C), T+D features (R-D), and T+CE+D features (R-A) (Type-1 model). An ensemble model was built by soft voting of five, single-sequence-based R models (Type-2 model). AUC, sensitivity, specificity, and accuracy of each model was calculated with five-fold cross validation. In Type-1 model, AUC, sensitivity, specificity, and accuracy were 0.752, 71.8%, 61.1%, and 67.2% in R-T; 0.756, 76.1%, 70.4%, and 73.6% in R-C; 0.750, 77.5%, 63.0%, and 71.2% in R-D; and 0.749, 74.6%, 61.1%, and 68.8% R-A models, respectively. AUC, sensitivity, specificity, and accuracy of Type-2 model were 0.774, 76.1%, 68.5%, and 72.8%. In conclusion, an ensemble method is beneficial to incorporate features from multi-sequence MRI and showed diagnostic robustness for differentiating malignant STTs.

Morphological variations of two cases of maxillary myofibromas

The aim of this case report is to depict the varied spectrum of clinical presentation of two cases of solitary myofibromas, one of which was intra-osseous whilst the other presented as a soft tissue lesion. This highlights the spectrum of the clinical presentation of the same pathology. In the most recent World Health Organisation (WHO) 2022 classification of soft tissue tumours, myofibroma is included under the category of myopericytomas. Myopericytoma is a distinctive perivascular myoid neoplasm that forms a morphological spectrum with myofibroma. Molecular evidence has revealed PDGFRB (platelet-derived growth factor receptor beta) mutations in myopericytoma and myofibroma as well as SRF-RELA gene fusions in both lesions confirming a common pathogenesis for both.1 Myofibromas are benign soft tissue neoplasms derived from myofibroblastic cells.2 The term myofibroma refers to a solitary lesion. Myofibromatosis refers to cases in which multiple lesions are present which may affect either one or multiple anatomical locations. Myofibromatosis is almost exclusively seen in young children under the age of 2-years. Myofibromas exhibit a wide age range of clinical presentation and may be present at birth or arise within the first two years of age, but may also present in adults with a significant male predominance. Solitary myofibromas have a predilection to occur in the oral cavity, skin or subcutis of the head, neck and trunk.

A Rare Case of Peri-Anal Leiomyoma

Leiomyoma is a benign soft tissue tumor of mesenchymal origin that derives from smooth muscle fibers [1, 2]. In the digestive tract, the anorectal location is uncommon and is usually diagnosed late due to intraluminal growth in over 50% of the cases [2]. We present the case of a 55-year-old woman who presented with a peri anal mass found more than 3 years ago. The 5cmx4cmx3cm mass was located in the left side of the anus, MRI revealed a clear demarcation between the mass and the external anal sphincter. Surgery was performed with a para-anal incision. The external anal sphincter was largely intact. A complete extracapsular dissection was performed.

Health-Related Quality of Life of Bone and Soft-Tissue Tumor Patients around the Time of Diagnosis.

Bone and soft-tissue tumor patients experience long-lasting physical and psychological challenges. It is unknown to what extent Health-Related Quality of Life (HRQoL) is already affected during the diagnostic process. This study assesses the HRQoL of bone and soft-tissue tumor patients around time of diagnosis and explores which patient or tumor characteristics are associated with a reduced HRQoL. All patients with a suspected benign/malignant bone tumor (BT), benign soft-tissue tumor (STT), or malignant soft-tissue sarcoma (STS) visiting the Leiden University Medical Center between 2016 and 2020 were invited to complete the Patient-Reported Outcomes Measurement Information System (PROMIS) 29-item profile questionnaire. Mean scores of all included patients and per diagnosis group were compared to mean scores of the general population using one-sample t-tests. Overall, patients (n = 637) reported statistically significantly worse HRQoL-scores on anxiety (51.3 ± 9.6), pain (55.3 ± 10.1), physical functioning (46.0 ± 9.7), and social functioning (48.1 ± 10.8) with the difference in pain and physical functioning being clinically relevant (based on a 3-point difference on t-metric). HRQoL-scores differed between diagnosis subgroups, i.e., patients with malignant tumors had higher anxiety levels and experienced more pain, where patients with bone tumors had worse physical functioning. The HRQoL of patients with suspected bone and soft-tissue tumors is already affected during the diagnostic process.

Spindle Cell Lipoma and Pleomorphic Lipoma: An Update and Review.

Spindle cell lipoma (SCL) is a benign adipocytic tumor that primarily occurs in the subcutis of the posterior neck, upper back, and shoulder, particularly of middle-aged males. SCL and pleomorphic lipoma (PL) represent a morphological spectrum of one disease process. The lesion typically presents as a relatively small (<5 cm), mobile, slow-growing, painless mass. Magnetic resonance imaging reveals the lesion to be a well-defined subcutaneous mass with a mixture of adipose and non-adipose components. Intense enhancement of the non-adipose component is seen after contrast administration. Histologically, SCL is composed of variable distributions of mature adipocytes, bland spindle cells and ropey collagen bundles and PL also contains pleomorphic and multinucleated floret-like giant cells. By immunohistochemistry, the spindle and pleomorphic/floret-like giant cells of SCL/PL are diffusely positive for CD34 and show loss of nuclear RB transcriptional corepressor 1 (RB1) expression. Recent cytogenetic and molecular genetic studies have shown heterozygous deletions of 13q14, including the RB1 gene. SCL/PL can be successfully treated with simple excision, with a very low recurrence rate. Knowledge of these peculiar tumors is important because it can mimic a variety of benign and malignant soft-tissue tumors. This review provides an updated overview of the clinical, radiological, histopathological, cytogenetic, and molecular genetic features of SCL/PL.

Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.

Soft tissue sarcomas (STS) may arise as a consequence of germline variants in cancer predisposition genes (CPGs). We believe that elucidating germline sarcoma predisposition is critical for understanding disease biology and therapeutic requirements. Participation in surveillance programs may allow for early tumor detection, early initiation of therapy and, ultimately, better outcomes. Among children, adolescents, and adults diagnosed with soft-tissue sarcomas and examined as part of published germline sequencing studies, pathogenic/likely pathogenic (P/LP) variants in CPGs were reported in 7-33% of patients. P/LP germline variants were detected most frequently in TP53, NF1 and BRCA1/2. In this review, we describe reported associations between soft tissue sarcomas and germline variants in CPGs, with mentioning of locally aggressive and benign soft tissue tumors that have important associations with cancer predisposition syndromes. We also discuss recommendations for diagnostic germline genetic testing. Testing for sarcoma-predisposing germline variants should be considered as part of the routine clinical workup and care of any child, adolescent, or adult diagnosed with STS and take into account consequences for the whole family.

Preseptal upper eyelid lipoma: a case report

Lipomas are benign soft-tissue tumors that typically progress gradually. In this case report, we describe a 77-year-old woman who presented with a mass on the left upper eyelid. An ophthalmologic examination was normal, and ultrasonography revealed a 1-cm ill-defined mass in the subcutaneous fat layer of the left upper eyelid. The tumor was completely excised surgically, and a histopathological examination showed mature fibro-adipose tissue consistent with a lipoma. The patient had an excellent postoperative prognosis. Even though eyelid lipomas are extremely rare, it is important to carefully examine the integrity of the orbital muscle, orbital septum, and levator aponeurosis. Lipoma should be distinguished from herniated orbital fat or the lacrimal glands in the differential diagnosis of an upper eyelid mass.

Angioleiomyoma of parotid gland: a rare case report

Angioleiomyoma or vascular leiomyoma first described by Virchow is a very uncommon benign soft tissue tumor. Angioleiomyoma has been defined as frequently painful, benign subcutaneous or deep dermal tumor composed of mature smooth muscle bundles which are surrounded and interlaced by vascular channels. Only 8.5% cases arise in the head and neck. A 39 years old male presented with swelling right side face and upper neck past five years. The swelling was non tender, immobile and non-compressible. There was lateral pharyngeal wall bulge which was pushing the tonsil medially. The patient underwent total conservative parotidectomy and histopathology (HPE) came out to be angioleiomyoma. Angioleiomyoma is difficult to diagnose correctly from clinical manifestations and imaging alone, and a biopsy is mandatory to make the diagnosis.

Fusion genes aiding the diagnosis of soft tissue tumours of the oral cavity: from bench to bedside.

Soft tissue tumours (STT) are a heterogeneous group of benign, malignant, and intermediate/borderline mesenchymal tumours. In the oral and maxillofacial region, less than 3% of all lesions correspond to benign STT and <1% are sarcomas. Overlapping microscopic features may lead to quite challenging diagnostic processes. Translocations and fusion genes are frequent, and type-specific genetic alterations are detected in these tumours. The detection of such alterations by classic cytogenetic, FISH, RT-PCR or NGS can help to define the diagnosis. This narrative review aims to review fusion genes reported for STT that affect the oral cavity and their use in diagnostic molecular pathology. Basic concepts regarding mechanisms of fusion genes formation are presented to clarify this information for surgical pathologists. The chromosomal rearrangements and fusion genes of adipocytic, fibroblastic and myofibroblastic, vascular, pericytic, smooth muscle, skeletal muscle, chondro-osseous, and uncertain origin STT are summarised. The advance in molecular pathology techniques has led not only to a better understanding of the molecular pathogenesis of STT, but also to the development of helpful diagnostic tools. Therefore, it is important for the oral and head and neck pathologists to familiarise with the signature rearrangements and fusion genes for each tumour.

A Deep Learning–Based System Trained for Gastrointestinal Stromal Tumor Screening Can Identify Multiple Types of Soft Tissue Tumors

The accuracy and timeliness of the pathologic diagnosis of soft tissue tumors (STTs) critically affect treatment decision and patient prognosis. Thus, it is crucial to make a preliminary judgement on whether the tumor is benign or malignant with hematoxylin-and-eosin-stained images. Here, we present a deep learning-based system, STT-BOX, with only hematoxylin-and-eosin images for malignant STT identification from benign STTs with histopathologic similarity. STT-BOX assumed gastrointestinal stromal tumor as a baseline for malignant STT evaluation, and distinguished gastrointestinal stromal tumor from leiomyoma and schwannoma with 100% area under the curve in patients from three hospitals, which achieved higher accuracy than the interpretation of experienced pathologists. Particularly, this system performed well on six common types of malignant STTs from The Cancer Genome Atlas data set, accurately highlighting the malignant mass lesion. Moreover, without any fine-tuning, STT-BOX was capable of distinguishing ovarian malignant sex-cord stromal tumors. Our study includes mesenchymal tumors that originated from the digestive system, bone and soft tissues, and reproductive system, where the high accuracy of migration verification may reveal the morphologic similarity of the nine types of malignant tumors. Further evaluation in a pan-STT setting would be potential and prospective, obviating the overuse of immunohistochemistry and molecular tests, and providing a practical basis for clinical treatment selection in a timely manner.

Giant cell tumor of tendon sheath in the pediatric population – review

Giant cell tumor of tendon sheath is a rare and benign soft-tissue tumor, which is even less common in the pediatric population. It may be connected with chromosomal translocations, often the 1p11-13. Symptoms include pain, swelling, palpable mass or limited range of motion. Magnetic resonance is the diagnostic method of choice. Histopathological image obtained from biopsy should be also evaluated. The gold standard of treatment is total surgical resection of the tumor, as incomplete excision may result in recurrence. Physicians should also consider the future function of the affected joint or limb. Our aim was to review the available literature about GCTTS in the pediatric population.