Sensory and Motor Median Nerve Neuropathy Due to a Deep Giant Hand Lipoma: A Case Report.

Lipomas are the most common soft-tissue tumors in the human body, but their location in the hand is rare. Symptomatic hand lipomas, due to nerve compression, are even rarer. We present a case of median nerve neuropathy as a result of a giant palm lipoma, located on the thenar and hypothenar areas of the hand. The patient had typical symptoms of carpal tunnel syndrome, along with compromised thumb motion. Intraoperatively, the recurrent motor branch of the median nerve was sitting on the lipoma under a great tension. This particular location of the motor branch of the median nerve in relation to the lipoma makes this case unique. The tumor was excised protecting the neurovascular structures, and a few weeks later the patient regained full thumb motion, grip strength, and resolution of dysesthesia.

Mandibular Myxoid Liposarcoma: a Case Study.

Liposarcomas are described as soft tissue sarcomas derived from adipose tissue. The finding of this tumor in the mandibular region is exceedingly rare. As of now, it has been described mainly in case reports and small series. A multidisciplinary approach is required to offer optimal treatment and may involve surgery, radiation and systemic therapies. Surgical repair of these defects represents a major challenge in oral and maxillofacial reconstructive surgery. We present the case of a 54-year-old man referred to our center with a progressively increasing mass in the anterior portion of the mandible. Biopsy revealed a well-differentiated myxoid liposarcoma. Resection of the tumor was performed with an additional primary reconstruction.

A Rare Case of a Giant Intramuscular Lipoma of the Upper Extremity in a Pediatric Patient.

Although lipomas are the most common benign soft tissue tumors, the non-infiltrating intramuscular subtype is relatively uncommon. As these masses typically present between the ages of 40 and 70, few cases have been reported in the pediatric population. We present a case of a giant intramuscular lipoma of the biceps brachii in an adolescent. He presented with a slow-growing, tender mass and had no neurovascular compromise of the limb. MRI was utilized to visualize the mass, and a muscle-sparing excisional biopsy was performed. Histologic evaluation confirmed a diagnosis of a benign lipoma. The patient went on to heal without a functional deficit. Large, growing soft tissue masses warrant work-up to rule out malignancy. Advanced imaging and excisional biopsy are necessary to confirm the diagnosis of a benign giant intramuscular lipoma, which is especially rare within the pediatric population. We discuss the prevalence and treatment of intramuscular lipomas, including a literature review of reports in the pediatric population.

Clinicopathological Profile and Survival Outcomes in Patients with Localised Extremity Synovial Sarcomas.

AIMS: Synovial sarcoma is a rare but aggressive variant of soft-tissue sarcoma. Literature is sparse and reported mostly from the West. We analysed the clinical profiles and prognostic factors of extremity synovial sarcoma patients in order to study their clinical journey. MATERIALS AND METHODS: This was a retrospective analysis. All patients with extremity synovial sarcoma treated between 1992 and 2020 were included. Patients with metastases at presentation were excluded. A descriptive analysis of demographic and clinicopathological features of patients undergoing limb salvage surgery (LSS) or amputation was carried out. Overall survival and disease-free survival were calculated for the entire cohort as well as for the LSS and amputation groups. Factors prognostic for survival were identified. RESULTS: In total, 157 patients had localised extremity synovial sarcoma. Predominantly, young adults (median 31 years) and males (61%) were affected. Over 70% of patients presented after recurrence or unplanned surgeries. Sixty-seven per cent of tumours were >5 cm, 69% were deep and 23% involved bone. The limb salvage rate was 64%. In the LSS group, adjuvant radiotherapy and chemotherapy were given to 72% and 68% of patients, respectively. In the amputation group, 72% of patients received adjuvant chemotherapy. In a median follow-up of 59 months, 39.4% of patients had recurrences, the majority (61.2%) were systemic. Five-year overall survival and disease-free survival were 53.4% and 49.8%, respectively. Overall survival was 63.9% and 29.7% in the LSS and amputation groups, respectively. On multivariate analysis, tumour size, depth, omission of radiotherapy and bone invasion were found to be the adverse prognostic factors. CONCLUSION: This is one of the largest studies on extremity synovial sarcoma. Mostly males and young adults were affected. The limb salvage rate was 64%, despite most being referred after unplanned surgery. Almost 70% of patients received radiotherapy and chemotherapy. Overall survival was inferior in the amputation group. Tumour size >5 cm, depth and bone invasion were negative, whereas adjuvant radiotherapy was a positive prognostic factor for survival. Chemotherapy had no impact on survival.

Unresectable infantile myofibroma discovered in utero.

The authors present a case of a proliferative nodule located beneath an infant's lower lip that was initially discovered on prenatal ultrasound and fetal magnetic resonance imaging (MRI). Biopsy revealed a smooth muscle actin-positive spindled cell proliferation with hemangiopericytoma-like vessels consistent with infantile myofibromatosis (IM). Since the location prevented surgical management, the clinicians opted to observe the lesion. Ultimately, the lesion fully regressed on its own confirming conservative management is an option for isolated IM.

Tumor metastásico en tejido blando a nivel del sacro secundario a carcinoma de células claras de riñón. Reporte de caso / Metastatic tumor in soft tissue at the level of the sacrum secondary toclear cell carcinoma of the kidney. A case report

Introducción. El cáncer de riñón es la undécima neoplasia maligna más común en los Estados Unidos Mexicanos. El carcinoma de células claras de riñón (CCR) es considerado la estirpe más frecuente y representa el 2-3 % de todos los cánceres a nivel mundial. En el contexto de la enfermedad metastásica, por lo general se identifica un tumor renal primario y las metástasis se localizan en pulmón, hueso, hígado, cerebro y, raramente, en tejidos blandos. Los pacientes con metástasis a tejidos blandos no tienen síntomas en las etapas iniciales y generalmente se identifican sólo cuando las lesiones aumentan de tamaño o durante el estudio de la pieza de resección quirúrgica. Caso clínico. Se presenta el caso de una paciente en la séptima década de la vida, con una metástasis en tejidos blandos de la región sacra, de 10 años de evolución posterior a una nefrectomía secundario a CCR. Resultados. Hallazgos clínicos e imagenológicos de un tumor bien delimitado. Se realizó resección quirúrgica de la lesión, bajo anestesia regional, con extirpación completa. Conclusión. Se recomienda que los pacientes con un sitio metastásico resecable y solitario sean llevados a resección quirúrgica con márgenes libres, como fue el caso de nuestra paciente, por su fácil acceso y ser una lesión única. En el CCR, además de su tratamiento quirúrgico inicial, es indispensable una estrecha vigilancia con examen físico e imágenes transversales, para detectar la presencia de metástasis y con ello evitar tratamientos tardíos.

Introduction. Kidney cancer is the eleventh most common malignancy in the United States of Mexico. Carcinoma renal cell (CRC) is considered the most frequent type and represents 2-3% of all cancers worldwide. In the setting of metastatic disease, a primary renal tumor is usually identified, and metastases are located in the lung, bone, liver, brain, and rarely in soft tissue. Patients with soft tissue metastases do not have symptoms in the initial stages and are generally found only when the lesions increase in size or during the study of the surgical resection piece. Clinical case. In this case, we report a female patient in the seventh decade of life with a soft tissue metastasis located in the sacral region, 10 years after a nephrectomy secondary to CRC. Results. Clinical and radiological findings of a well-defined tumor. Surgical resection of the lesion is performed under regional anesthesia with complete excision. Conclusions. It is recommended that patients with a resectable and solitary metastatic site be candidates for surgical resection with free margins, as was the case with our patient due to its easy access and single lesion. In CRC, in addition to its initial surgical treatment, close surveillance with physical examination and cross-sectional images is essential to monitor the presence of metastases and thus avoid late treatments.

When biopsy goes wrong: a case series of misdiagnoses and complications from biopsies of masses of unknown origin potentially originating from a peripheral nerve.

OBJECTIVE: Biopsies of peripheral nerve tumors (PNTs) are often used to plan an efficient treatment strategy. However, performing a biopsy is controversial when the mass is likely to be a benign PNT (BPNT). The aim of this study was to evaluate the side effects of biopsies in patients with potential PNTs. METHODS: A retrospective and cross-sectional study was conducted on 24 patients who underwent biopsy of a mass of unknown origin potentially originating from a peripheral nerve (MUOPON), performed in nonspecialty services, and who were later referred to the authors' service for resection of their lesion between January 2005 and December 2022. The patients were evaluated for pain score, presence of a motor or sensory deficit, biopsy diagnosis, and definitive histopathological postsurgical diagnosis. RESULTS: The location of the tumor was supraclavicular in 7 (29.2%) patients, in the axillary region in 3 (12.5%), in the upper limb in 7 (29.2%), and in the lower limb in 7 (29.2%). Twenty-one (87.5%) patients were evaluated by MRI before biopsy, and 3 (12.5%) underwent ultrasound. One patient did not have an examination before the procedure. Based on the biopsy findings, 12 (50%) analyses had an inconclusive histopathological result. The preexisting pain worsened, as measured 1 week after biopsy, in all patients and had remained unchanged at the first evaluation by the authors (median 3 months, range 2-4 months). In 1 case, the open biopsy had to be interrupted because the patient experienced excruciating pain. Four (16.7%) patients developed motor deficits. Subsequent surgery was hampered by scar formation and intratumoral hemorrhage in 5 (20.8%) patients. The initial diagnosis obtained by biopsy differed from the final histopathological diagnosis in all patients, of whom 21 (87.5%) had BPNTs, 2 (8.3%) malignant peripheral nerve sheath tumors, and 1 (4.2%) an ancient schwannoma. CONCLUSIONS: Biopsies of PNTs are controversial and may result in misdiagnosis, neuropathic pain, or neurological deficit due to axonal damage, and they may also hinder microsurgical resection when if performed when not indicated. Indications for biopsy of an MUOPON must be carefully considered, especially if BPNT is a possible diagnosis.

MRI features of benign peripheral nerve sheath tumors: how do sporadic and syndromic tumors differ?

OBJECTIVES: To compare MRI features of sporadic and neurofibromatosis syndrome-related localized schwannomas and neurofibromas. METHODS: In this retrospective study, our pathology database was searched for "neurofibroma" or "schwannoma" from 2014 to 2019. Exclusion criteria were lack of available MRI and intradural or plexiform tumors. Qualitative and quantitative anatomic (location, size, relationship to nerve, signal, muscle denervation) and functional (arterial enhancement, apparent diffusion-weighted coefficient) MRI features of sporadic and syndrome-related tumors were compared. Statistical significance was assumed for p < 0.05. RESULTS: A total of 80 patients with 64 schwannomas (sporadic: 42 (65.6%) v. syndrome-related: 22 (34.4%)) and 19 neurofibromas (sporadic: 7 (36.8%) v. syndrome-related: 12 (41.7%)) were included. Only signal heterogeneity (T2W p=0.001, post-contrast p=0.03) and a diffused-weighted imaging target sign (p=0.04) were more frequent with schwannomas than neurofibromas. Sporadic schwannomas were similar in size to syndrome-related schwannomas (2.9±1.2cm vs. 3.7±3.2 cm, p = 0.6), but with greater heterogeneity (T2W p = 0.02, post-contrast p = 0.01). Sporadic neurofibromas were larger (4.6±1.5cm vs. 3.4±2.4 cm, p = 0.03) than syndrome-related neurofibromas, also with greater heterogeneity (T2W p=0.03, post-contrast p=0.04). Additional tumors along an affected nerve were only observed with syndrome-related tumors). There was no difference in apparent diffusion coefficient values or presence of early perfusion between sporadic and syndrome-related tumors (p > 0.05). CONCLUSIONS: Although syndrome-related and sporadic schwannomas and neurofibromas overlap in their anatomic, diffusion and perfusion features, signal heterogeneity and presence of multiple lesions along a nerve are differentiating characteristics of syndrome-related tumors.

Rare myxoid pleomorphic liposarcoma: a case report and literature review.

We report a case of a middle-aged woman with a rapidly growing abdominal mass that was diagnosed as myxoid pleomorphic liposarcoma, a recently recognised, rare and aggressive subtype of liposarcoma. The tumour exhibits a combination of histological features from both myxoid liposarcoma and pleomorphic liposarcoma. Genetic analysis revealed mutations in TP53 and RB1, along with widespread loss of heterozygosity. However, no DDIT3 gene translocation or MDM2/CDK4 gene amplification was detected. These genetic characteristics can be used to distinguish this type of liposarcoma from others. Two unusual gene fusion/rearrangements, CREB5::TERT fusion and ETV1::LFNG rearrangement, were identified. The patient underwent complete removal of the tumour without the use of radiotherapy or chemotherapy. No recurrence was observed during the follow-up period of 18 months.

Pitfalls in soft tissue cytopathology.

Fine needle aspiration biopsy (FNAB) is a diagnostic modality for the evaluation of suspicious soft tissue masses. Despite its reasonable sensitivity, specificity and positive predictive value in differentiating benign from malignant neoplasms, the exact subtyping of the primary soft tissue tumours can be challenging. Certain tumours constitute "pitfalls" and add to the diagnostic challenge. This review provides a detailed account of the diagnostic challenges in soft tissue cytopathology, including pitfalls and, more importantly, the ways to overcome these challenges by integrating clinical details, key cytomorphological features and judicious application of ancillary techniques.

A case of cutaneous malignant glomus tumor.

Glomus tumors are well-known but relatively rare vascular neoplasms, with their malignant counterparts still being rarer. There are very few reports of cutaneous malignant glomus tumors, and the current limited evidence suggests that they follow a more indolent course than deep-seated malignant glomus tumors. Herein, we are reporting a case of cutaneous malignant glomus tumor. A 94-year-old male presented with a right-sided ulcerated scalp lesion, which, on biopsy, showed a diffusely infiltrative epithelioid malignancy with considerable pleomorphism and a notable perivascular growth pattern. The tumor cells were positive for smooth muscle actin (SMA) and h-caldesmon, and negative for cytokeratin MNF116, CK5, p40, S100, SOX10, HMB45, Melan-A, ERG, CD31, CD45, CD3, CD20, ALK, desmin, CD68, CD34, and HHV8. A diagnosis of cutaneous malignant glomus tumor was made, and the patient underwent a wider excision. Cutaneous malignant glomus tumors are extremely rare and should be considered when examining unusual cutaneous mesenchymal tumors.

Kinase expression in angiomatoid fibrous histiocytoma: panTRK is commonly expressed in the absence of NTRK rearrangement.

Angiomatoid fibrous histiocytoma (AFH) is a soft tissue tumour of intermediate (rarely metastasising) malignant potential, which harbours EWSR1/FUS gene fusions. These tumours can express anaplastic lymphoma kinase (ALK) in the absence of gene rearrangement or copy number alteration and can also coexpresses Pan-TRK immunohistochemistry (IHC). All EWSR1/FUS-rearranged AFH were retrieved from the files of three institutions and Pan-TRK (EPR17341), ALK and BRAF V600E IHC were performed. Fourteen AFH cases were identified, which included three cases of intracranial mesenchymal tumours with FET-CREB fusions. PanTRK and ALK positive immunostaining was identified in 9 (64.2%) and 12 (85.7%) cases, respectively. No NTRK or ALK translocations or increased copy number/amplification were identified in all eight cases which had fluorescence in situ hybridisation and/or next generation sequencing for NTRK1-3 and ALK available for assessment. None of the cases expressed BRAF-V600E.Although our study is limited, our report is the first to document PanTRK expression in AFH in the absence of identifiable NTRK1-3 gene alterations.

Gene of the month: DDIT3.

DNA damage-inducible transcript 3 (DDIT3) gene, mapped to the human chromosome 12q13.3, encodes a protein that belongs to the CCAAT/enhancer-binding protein family of transcription factors. DDIT3 is involved in the proliferative control that responds to endoplasmic reticulum stress in normal conditions, dimerising other transcription factors with basic leucine zipper (bZIP) structural motifs. DDIT3 plays a significant role during cell differentiation, especially adipogenesis, arresting the maturation of adipoblasts. In disease, FUS/EWSR1::DDIT3 fusion is the pathogenic event that drives the development of myxoid liposarcoma. The amplification of DDIT3 in other adipocytic neoplasms mediates the presence of adipoblast-like elements. Another fusion, GLI1::DDIT3, has rarely been documented in other tumours. This paper reviews the structure and function of DDIT3, its role in disease-particularly cancer-and its use and pitfalls in diagnostic testing, including immunohistochemistry as a tissue-based marker.

Malignant Chest Wall Tumors: Complex Defects and Their Management-A Review of 181 Cases.

BACKGROUND: Chest wall tumors are a heterogeneous group of tumors that are managed by surgeons from diverse specialties. Due to their rarity, there is no consensus on their diagnosis and management. MATERIALS: This retrospective, descriptive analysis includes patients with malignant chest wall tumors undergoing chest wall resection. Tumors were classified as primary, secondary, and metastatic tumors. The analysis includes clinicopathological characteristics, resection-reconstruction profile, and relapse patterns. RESULTS: A total of 181 patients underwent chest wall resection between 1999 and 2020. In primary tumors (69%), the majority were soft tissue tumors (59%). In secondary tumors, the majority were from the breast (45%) and lung (42%). Twenty-five percent of patients received neoadjuvant chemotherapy, and 98% of patients underwent R0 resection. Soft tissue, skeletal + soft tissue, and extended resections were performed in 45%, 70%, and 28% of patients, respectively. The majority of patients (60%) underwent rib resections, and a median of 3.5 ribs were resected. The mean defect size was 24 cm2. Soft tissue reconstruction was performed in 40% of patients, mostly with latissimus dorsi flaps. Rigid reconstruction was performed in 57% of patients, and 18% underwent mesh-bone cement sandwich technique reconstruction. Adjuvant radiotherapy and chemotherapy were given to 29% and 39% of patients, respectively. CONCLUSIONS: This is one of the largest single-institutional experiences on malignant chest wall tumors. The results highlight varied tumor spectra and multimodality approaches for optimal functional and survival outcomes. In limited resource setting, surgery, including reconstructive expertise, is very crucial.

Revealing RB1 loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours.

AIMS: PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours. METHODS: Two new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing. RESULTS: Both cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry. CONCLUSIONS: We identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.

Retroperitoneal spindle cell tumor: a case report.

Spindle cell tumors exhibit a relatively low occurrence rate and can manifest in various locations within the human body, including soft tissues and bones. The process of making a diagnosis is supported by conducting pathological and immunohistochemical tests. A 50-year-old female patient visited the hospital with abdominal pain that lasted about a week. Magnetic resonance imaging of the pelvis showed that this mass was independent and was not a lymph node mass, but a retroperitoneal sarcoma type mass. As part of the treatment, the mass was surgically excised, and a supracervical hysterectomy was carried out. The tumor was wrapped in a grayish-white capsule and showed a lobulating pattern. Retroperitoneal spindle cell tumors, particularly those occurring in abdominal soft tissues, are infrequently observed. Histopathological diagnosis is done in stages, and when cases are ambiguous, immunohistochemistry can provide valuable guidance in the right direction.

Evaluation of Bone and Soft Tissue Tumors of the Shoulder Girdle.

INTRODUCTION: The shoulder girdle comprises the scapula, clavicle, proximal humerus, and the soft tissues surrounding these structures. Bone and soft tissue tumors are notably more prevalent in the lower extremity than in the upper extremity. However, the shoulder ranks as the third most common site for primary tumors, following the hip-pelvis and knee. MATERIALS AND METHODS: This study conducted a retrospective examination of patients who presented with pain and swelling in the shoulder and its vicinity. The evaluation was carried out using a multidisciplinary approach by the Bone and Soft Tissue Tumors Council. RESULTS: The study included 224 patients diagnosed with a tumoral lesion in the shoulder girdle between 2004 and 2021. Among these patients, 22 were assessed to have lesions other than tumors, while 105 (51.98%) had benign lesions, and 97 had malignant lesions. The most prevalent benign lesions were cystic bone lesions (30) and soft tissue lipomas (10). The primary form of malignant lesion was metastatic tumors (49). CONCLUSION: Pathologies in the shoulder girdle may manifest through pain, palpable swelling, pathological fractures, or may be incidentally detected via radiological imaging. Notably, pain, hypercalcemia, and pathological fractures are significant indicators, especially in cases of bone metastases, which often follow a highly fatal course when involving long bones. The musculoskeletal system is the third most common site for metastasis, following the lungs and liver. Hence, particular attention should be directed toward metastatic concerns in the shoulder and its surrounding area.

Unexpected Clinical Outcome for Myxoinflammatory Fibroblastic Sarcoma, When Should They Be Considered High Grade?

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare tumor of soft tissue. It typically presents as a low-grade sarcoma with myxoid stroma, has a predilection for distal extremities, and displays a high propensity for local recurrence, but low metastatic potential. The risk factors associated with high-risk lesions metastasizing are poorly defined. In cases where the tumor metastasizes, therapeutic options are few, and death is rare. Our case discusses an aggressive MIFS that progressed from a painless lesion on a patient's calf, to her death from a malignant pleural effusion within 21 months. The 58-year-old woman presented with a mass on her left calf. It was excised and was originally thought to be a benign process. It re-grew quickly after the initial resection, and she underwent re-excision of the mass. The pathologic examination was consistent with an MIFS. Despite negative margins on her second resection and an attempt at local control with radiotherapy, it metastasized to her lungs within less than 2 years. This resulted in a malignant pleural effusion that caused her death. An MIFS is typically benign but can metastasize in atypical cases. Even if the disease is metastatic, it is unlikely to be the cause of death. Treatment of metastatic MIFS is poorly defined, but there are suggested therapies beyond surgical resection and radiotherapy. Successful treatment of an MIFS should include a high index of suspicion in extremity lesions, screening for metastasis, and possible targeted therapies based on tumor genomics.