Deep Soft Tissue Mass Research Articles

TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases.

TRAF7 somatic mutations are rare and have been reported in meningiomas, intraneural perineuriomas, and mesotheliomas. Triggered by an index case of an unclassified low-grade mesenchymal tumor with TRAF7 mutation as the only genetic alteration, we searched our files and identified 2 additional cases with similar features. The tumors arose in 2 females and 1 male, aged 63 to 75 years old (median: 67y). They were infiltrative deep soft tissue masses involving the shoulder, chest wall, and thigh, measuring 7.0 to 9.1cm in greatest dimensions. One tumor was locally aggressive, and 2 were associated with lung and bone metastases. The tumors displayed alternating fibrous and myxoid stroma with mild to moderate cellularity and consisted of uniform spindle cells with open chromatin, inconspicuous nucleoli and scant cytoplasm. Significant mitotic activity or necrosis were not present. However, the metastatic tumor of 1 case showed an epithelioid morphology and brisk mitotic activity. Immunohistochemically, the tumors showed nonspecific and focal smooth muscle actin or CD34 expression. By DNA sequencing, all 3 cases harbored TRAF7 missense mutations involving the C-terminal WD40 domains as the only somatic mutations, showed nonrecurrent focal copy number alterations, and were negative for gene fusions by targeted RNA sequencing. On methylation profiling, the tumors clustered with the undifferentiated sarcoma and myxofibrosarcoma methylation classes and were distinct from morphologic mimics. On follow-up (5 to 36mo), 2 patients died of disease following aggressive chemotherapeutic regimens. We describe a novel TRAF7- mutated mesenchymal tumor characterized by aggressive clinical behavior despite the histologic appearance of a low-grade fibromyxoid spindle cell tumor.

Deep soft tissue masses as a manifestation of type 2 diabetes

Deep soft tissue masses as a manifestation of type 2 diabetes

Tumors and pseudotumors of the soft tissues: Imaging semiology and strategy.

The aims of this educational review are to learn the semiological basis of soft-tissue lesions and, with the help of diagnostic algorithms, to apply the current recommendations for the management of soft-tissue tumors. Pseudotumors must first be identified and excluded. Among primary tumors, the search for macroscopic fat content on MRI is decisive; since it restricts the diagnostic range to adipocytic tumors. Key imaging features of non-adipocytic tumors are highlighted. When a deep soft-tissue mass is found, therapeutic abstention or simple monitoring is only appropriate when there is diagnostic certainty: This is only the case for typical pseudotumors, typical benign tumors, and fat tumors without atypical criteria. In all other cases, histological evidence is required. If there is any suspicion of soft-tissue sarcoma or any undetermined lesion, the patient should be referred to a sarcoma referral center before biopsy.

Soft tissue masses: distribution of entities and rate of malignancy in small lesions

BackgroundSmall soft tissue masses are often falsely assumed to be benign and resected with failure to achieve tumor-free margins. Therefore, this study retrospectively investigated the distribution of histopathologic diagnosis to be encountered in small soft tissue tumors (≤ 5 cm) in a large series of a tertiary referral center.MethodsPatients with a soft tissue mass (STM) with a maximum diameter of 5 cm presenting at our institution over a period of 10 years, who had undergone preoperative Magnetic resonance imaging and consequent biopsy or/and surgical resection, were included in this study. A final histopathological diagnosis was available in all cases. The maximum tumor diameter was determined on MR images by one radiologist. Moreover, tumor localization (head/neck, trunk, upper extremity, lower extremity, hand, foot) and depth (superficial / deep to fascia) were assessed.ResultsIn total, histopathologic results and MR images of 1753 patients were reviewed. Eight hundred seventy patients (49.63%) showed a STM ≤ 5 cm and were therefore included in this study (46.79 +/− 18.08 years, 464 women). Mean maximum diameter of the assessed STMs was 2.88 cm. Of 870 analyzed lesions ≤ 5 cm, 170 (19.54%) were classified as superficial and 700 (80.46%) as deep. The malignancy rate of all lesions ≤ 5 cm was at 22.41% (superficial: 23.53% / deep: 22.14%). The malignancy rate dropped to 16.49% (20.79% / 15.32%) when assessing lesions ≤ 3 cm (p = 0.007) and to 15.0% (18.18% / 13.79%) when assessing lesions ≤ 2 cm (p = 0.006).Overall, lipoma was the most common benign lesion of superficial STMs (29.41%) and tenosynovial giant cell tumor was the most common benign lesion of deep STMs (23.29%). Undifferentiated pleomorphic sarcoma was the most common malignant diagnosis among both, superficial (5.29%) and deep (3.57%) STMs.ConclusionsThe rate of malignancy decreased significantly with tumor size in both, superficial and deep STMs. The distribution of entities was different between superficial and deep STMs, yet there was no significant difference found in the malignancy rate.

The safety of primary surgical excision of small deep indeterminate musculoskeletal soft tissue masses.

To determine the suitability of primary excision of small indeterminate deep soft tissue masses presenting to a tertiary musculoskeletal oncology service. Review of all patients referred to a specialist musculoskeletal oncology service over a 20-month period with a deep indeterminate soft tissue mass by non-contrast MRI criteria that was recommended for primary surgical excision due to relatively small size (<30 mm). Data collected included age, gender, site and maximal size of the lesion, and final histological diagnosis for excised lesions. 85 patients were included, mean lesion size being 12 mm (range 5-29 mm). Primary surgical resection had been undertaken in 69 cases (81.2%) by the conclusion of data collection, 36 males and 33 females with mean age of 45.6 years (range 11-80 years). Of these, 11 cases (15.9%) were non-neoplastic, 53 (76.8%) were benign, 1 (1.4%) was intermediate grade, while 4 (5.8%) were malignant including 3 synovial sarcomas. Two of these were treated with re-excision of the tumour bed showing no residual disease, with no evidence of local recurrence at a mean of 10.7 months post-excision. Primary surgical excision of small deep soft tissue masses that are indeterminate by non-contrast MRI criteria is considered a safe procedure when undertaken in a specialist musculoskeletal oncology service, with only 4 of 69 cases (5.8%) being malignant. Small indeterminate deep soft tissue masses can safely be treated with primary excision in the setting of a specialist musculoskeletal oncology service.

Accuracy of ultrasound in the characterisation of deep soft tissue masses: a prospective study.

To investigate the accuracy of ultrasound in characterising the type of mass and likelihood of malignancy in deep soft tissue masses. Five hundred seventy-nine deep soft tissue masses were prospectively studied by ultrasound. Masses (n = 137) with prior MRI or CT were not included. Following ultrasound examination, the likely nature of the mass as well as the confidence of the reporting radiologist ('fully confident' versus 'not fully confident') about the ultrasound diagnosis was recorded. Clinical and ultrasound diagnoses were compared with the histological diagnosis which was available in 134 (23%) of the 579 masses. Compared with histology, clinical and ultrasound accuracy for characterising the type of mass were 47% and 88% respectively when all differential diagnoses were considered. The radiologist was fully confident regarding the type of 436 (75%) of 579 masses and, in this setting, for those cases that could be compared with histology, diagnostic accuracy was 96%. For the remaining masses, where the radiologist was not fully confident, accuracy compared with histology was 58% for the first differential diagnosis and 80% for all differential diagnoses. For identifying malignancy, sensitivity, specificity, and positive and negative predictive value of ultrasound were 97%, 58%, 67%, and 99% respectively. Ultrasound alone was considered sufficient for diagnostic workup in over half of all deep soft tissue masses. Ultrasound is useful at characterising and recognising malignancy in deep soft tissue masses. Provided local practice patterns are favourable, ultrasound may be considered a first-line investigation in the diagnostic workup of deep soft tissue masses. • In three-quarters of cases, one can be fully confident about characterising the nature of deep soft tissue masses on ultrasound and, for those fully confident cases that could be compared with histology, the diagnostic accuracy of ultrasound was 96%. • Ultrasound can correctly recognise nearly all malignant deep soft tissue masses but some benign masses will also be considered possibly malignant. • Ultrasound alone was considered sufficient for imaging workup in over half of deep soft tissue masses.

Orthopaedic Manifestations of Melanoma and Their Management

Melanoma is an aggressive form of skin cancer associated with significant morbidity and mortality. Although commonly seen in dermatologist clinics, orthopaedic surgeons must be aware of these lesions in various ways. The five common musculoskeletal manifestations of melanoma will be discussed as well as the epidemiology, pathogenesis, diagnosis, staging, treatment, and prognosis of melanoma. With an index of suspicion and awareness of melanoma, a thorough history and detailed physical examination are critical in establishing a diagnosis. An adequately performed biopsy will confirm the diagnosis and assist in determining prognosis. As ambassadors of health for the musculoskeletal system, orthopaedic surgeons may be the first practitioners to encounter a pigmented skin lesion. Acral pigmented lesions should prompt a concern for melanoma with appropriate subsequent steps for management to follow. Finally, it is important for every orthopaedic surgeon to consider disseminated melanoma in the differential diagnosis of a skeletal metastasis, a deep soft-tissue mass, or lymphadenopathy in a patient with a previous history of a melanotic lesion.

Low-Grade Fibromyxoid Sarcoma of the Malar Area.

Low-Grade Fibromyxoid Sarcoma of the Malar Area.

Primary subcutaneous myxoid liposarcoma: a clinicopathologic review of three cases with molecular confirmation and discussion of the differential diagnosis.

Myxoid liposarcoma typically presents as a deep-seated mass in the lower extremity of adults. Presentation as a primary subcutaneous tumor is rare. Here we discuss clinicopathologic characteristics of three such cases and their differential diagnosis to alert dermatopathologists to this unusual clinical presentation of a potentially aggressive entity. Cases of myxoid liposarcoma were retrieved from archives and consultation files. Inclusion required location above the subcutaneous fascia with no evidence of a metastatic origin. Clinicopathologic features were retrospectively reviewed. Fluorescence in situ hybridization for DDIT3 (CHOP) gene rearrangement was performed on all cases. The tumors affected young adults (two males and one female, mean 36 years, range 32-40 years). No prior history of myxoid liposarcoma or deep soft tissue mass was identified. The tumors occurred in the foot, thigh and hand. All demonstrated multilobular architecture with abundant myxoid stroma, prominent branching capillary vascular network and lipoblastic differentiation. No dermal involvement was seen. Round cell features were identified in one case and represented <5% of the tumor. All patients remain disease-free following local excision only at 6, 8 and 13 months. Myxoid liposarcoma can rarely present as a primary subcutaneous mass and should be considered in the differential diagnosis of cutaneous myxoid tumors in adults.

Management of giant intermuscular lipoma of hips: A case report and review of literature

Intermuscular lipomas are rare soft tissue tumors of mesenchymal origin. They are closely correlated with other benign and malign mesenchymal tumors in clinical presentation and imaging, causing problems in diagnosis and treatment. This study examined a rare giant intermuscular lipoma of the hip and its management, allowing clinicians to become familiar with this lesion. Furthermore, the clinical data of 13 patients with pathologically confirmed giant intermuscular lipomas (1 case treated by the authors, the remaining 12 cases reported in the Chinese literature during the period from January, 1992 to May, 2012) were also reviewed and analyzed. Based on the review, intermuscular lipomas were found to be more common in males and usually presented with an asymptomatic mass, with an average patient age of 39.7 years (range, 11-70), while symptom duration was between 1 month and 10 years. The most common tumor origin sites were the thigh and forearm and the option of treatment was surgical excision. The present study showed that it is crucial for the surgeon to consider infiltrating lipomas when dealing with deep soft tissue masses, while complete removal of the lesion was vital to avoid recurrence.

Ossifying fibromyxoid tumor – A case report

Abstract Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue tumor of uncertain histogenesis, occurring predominantly in deep soft tissues of the extremities. Typically, OFMT presents in adults on the extremities or trunk, as a deep soft tissue mass. Less appreciated is the fact that OFMT may also present as a mass in the superficial subcutis or dermis. We herein report a female who presented with an asymptomatic subcutaneous nodule on the left thigh for 3 years, and who was diagnosed as having typical ossifying fibromyxoid tumor, by unique histopathologic and immunohistochemical studies. Most reported cases have pursued a benign clinical course. However, recent literature emphasized the existence of morphologically atypical and clinically malignant cases of OFMTs. Pathologic criteria for malignancy have been proposed, and reclassification of these tumors as tumors of intermediate malignancy, raise our attention while coping with OFMT clinically.

Inadvertent surgical resection of soft tissue sarcomas

BackgroundThe National Institute of Clinical Excellence (NICE) published Improving Outcome Guidance in 2006 defining urgent referral criteria for soft tissue sarcoma (STSs) with the twin aims of improving diagnostic accuracy and overall outcome. Despite these guidelines inadvertent excisions of soft tissue sarcomas continue to occur with alarming frequency, potentially compromising patient outcomes. ObjectiveWe reviewed the East Midlands Sarcoma Service experience of treating inadvertent excision of STSs and highlight the patient profile, referral pattern, subsequent management and oncological outcome associated with inadvertent resection. MethodsPatients were identified from our sarcoma database and a retrospective case note review performed. ResultsOver a 3-year period, 42 patients presented to our specialist centre after unplanned excision of soft tissue sarcomas. There were 29 men and 13 women, with a mean age at presentation of 59 years (19–90). 50% of the tumours were located in lower extremity, 33% around the trunk and 17% in the upper extremity. The unplanned surgery was most commonly from general surgeons, plastic surgeons, orthopaedic surgeons, general practitioners followed by vascular surgeons. Re-resection was undertaken in 40 cases to achieve clear margins with residual tumour present in 74% of cases. Limb salvage surgery was not possible in 5 cases. ConclusionUnplanned excision of sarcoma by non-oncologic surgeons remains a problem. It appears that it is equally prevalent in varied surgical community and general practitioners. Excision of large or deep solid soft tissue masses without tissue diagnosis is unacceptable.

Kaposiform hemangioendothelioma with adolescent thoracic scoliosis: a case report and review of literature

Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive vascular tumor that usually presents as a superficial or deep soft tissue mass with associated cutaneous lesions. We report a unique spinal KHE with painless thoracic scoliosis in a 14-year-old girl. She underwent simultaneous tumor biopsy, spinal deformity correction and fusion. At 3years follow-up, the patient's MRI showed no significant deterioration of process without any therapy. KHE presenting as scoliosis is rare and to our knowledge this is the first recognized case in the reported world literature.

Case Report: Kaposiform Hemangioendothelioma in Multiple Spinal Levels Without Skin Changes

Kaposiform hemangioendothelioma is a rare vascular tumor of childhood that is locally aggressive but has little metastatic potential and by itself is not known to be lethal. It most commonly presents as a superficial or deep soft tissue mass with associated cutaneous lesions. Kasabach-Merritt phenomenon, a condition characterized by profound thrombocytopenia and life-threatening hemorrhage, often is associated with kaposiform hemangioendothelioma. Six cases of kaposiform hemangioendothelioma have been reported in bone, two of which were located in extracraniofacial bones. We report a diagnostically challenging case of a 6-year-old girl with kaposiform hemangioendothelioma of the thoracolumbar spine without Kasabach-Merritt phenomenon or cutaneous lesions.

Proximal Type Epithelioid Sarcoma of the Scrotum: A Source of Diagnostic Confusion That Needs Immediate Attention: Part 2

Epithelioid sarcoma is a rare soft-tissue sarcoma which classically presents as a subcutaneous or deep dermal mass in distal extremities of adolescents and young adults. A more aggressive "proximal" or "large-cell" type has been described in rare cases to occur as a deep soft-tissue mass at proximal body sites which tends to recur and metastasize earlier than the conventional epithelioid sarcoma. The correct diagnosis of this type is essential since these lesions can easily be misdiagnosed as other epithelioid lesions. Its prognostic factors also have not yet been fully investigated. We herein report a case of metastatic proximal-type epithelioid sarcoma arising from the scrotum of a 50-year-old man managed by radical surgery and adjuvant chemotherapy.

Proximal Type Epithelioid Sarcoma of the Scrotum: A Source of Diagnostic Confusion That Needs Immediate Attention

Epithelioid sarcoma is a rare soft-tissue sarcoma which classically presents as a subcutaneous or deep dermal mass in distal extremities of adolescents and young adults. A more aggressive “proximal” or “large-cell” type has been described in rare cases to occur as a deep soft-tissue mass at proximal body sites which tends to recur and metastasize earlier than the conventional epithelioid sarcoma. The correct diagnosis of this type is essential since these lesions can easily be misdiagnosed as other epithelioid lesions. Its prognostic factors also have not yet been fully investigated. We herein report a case of metastatic proximal-type epithelioid sarcoma arising from the scrotum of a 50-year-old man managed by radical surgery and adjuvant chemotherapy.

Malignant myoepithelioma (myoepithelial carcinoma) of soft tissue

Malignant myoepithelioma of soft tissue is extremely rare. Presented herein is a case arising in a 17-year-old man. The tumor was initially noticed as a painless deep soft-tissue mass in the right forearm when the patient was aged 3 years. Thereafter, it grew without remarkable symptoms, such as pain or tenderness, until his visit to the hospital because of swelling of his forearm when he was 17 years old. An excisional biopsy specimen disclosed an invasive tumor exhibiting a lobular architecture. The tumor cells were arranged in a reticular and/or trabecular fashion with a myxoid background, and nuclear atypia was evident. Mitoses and tumor necrosis were also observed. Immunohistochemically, S-100 protein and epithelial markers were diffusely positive. Faint intercellular junctions and basal laminae were identified by electronmicroscopy. On the basis of these findings, the tumor was diagnosed as a malignant myoepithelioma of soft tissue. Six months later, multiple lung metastases were observed, and an open biopsy revealed a neoplasm displaying the same histological feature as the previously biopsied specimens. The patient died of his disease 18 months after the lung biopsy. Malignant myoepithelioma should be kept in mind in diagnosis of deep soft-tissue tumors with epithelioid features.

Clinico‐pathologic correlations of myofibroblastic tumors of the oral cavity: 1. nodular fasciitis

Nodular fasciitis (NF), a soft tissue lesion mainly composed of myofibroblastic cells, is well documented in various body locations however, in the oral cavity it is rare. The NF has non-specific histologic characteristics that might result in misdiagnosis and mistreatment. The aim of the study was to analyze clinico-pathologic correlations of NF occurring in the oral cavity. A total of 36 cases of oral NF were analyzed including review of the English language literature and five new cases from our files. Oral mucosa NF was found to peak in the fourth and fifth decades, which is a decade later than NF occurring in other sites of the body. The most common locations were the buccal mucosa (52.8%) and the lips (16.7%). Duration of lesions ranged from 3 days to 2 years, with approximately 61% being present for more than a month, which is longer than the duration of NF from other body locations. Histologically, oral NF showed varying degrees of cellularity and frequently contained myxomatous areas, and often demonstrated local infiltration into adjacent tissues. However, the myofibroblastic, spindle-shaped lesional cells were uniform and lacked any major signs of atypia. Mitotic figures, characteristically abundant in NF lesions throughout the body, ranged from absent to moderately high in oral NF cases. Treatment modality of choice was complete surgical excision. Recurrence was reported for only one case. Extensive, mutilating surgical procedures for oral mucosa NF are unnecessary, since lesions resolve even when surgical margins are partly involved. The NF should be included in the clinical differential diagnosis of superficial and deep soft tissue masses of the oral cavity, especially of the buccal mucosa. Histopathologically, NF should be differentiated from other spindle cell lesions, mainly myofibroma, neurofibroma, fibrosarcoma, solitary fibrous tumor, fibromatosis and fibrous histiocytoma.

Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations.

Juvenile xanthogranulomas (JXG) is a histiocytic disorder, primarily but not exclusively seen throughout the first two decades of life and principally as a solitary cutaneous lesion. This study is a retrospective clinical and pathologic review of 174 cases documenting the cutaneous and extracutaneous manifestations in patients presenting from the neonatal period to 20 years of age (mean 3.3 years; median 1 year). There was a male predominance (99 male:75 female) in all categories of clinical presentation, but especially notable in the group with multiple cutaneous lesions (12 male:1 female). A solitary cutaneous lesion accounted for 67% of all cases, followed by a solitary subcutaneous or deep soft tissue mass (28 cases, 16%), multiple cutaneous lesions (13 cases, 7%), a solitary extracutaneous, nonsoft tissue lesion (9 cases, 5%), and multiple cutaneous and visceral-systemic lesions (8 cases, 5%). The recorded deaths due to disease included two neonates with systemic JXG who developed hepatic failure and thrombocytopenia and at autopsy had giant cell-neonatal hepatitis in addition to JXG in the liver and other visceral sites. A third death in a 3-month-old boy with a retroperitoneal-pelvic JXG occurred after failure to control severe hypercalcemia. The characteristic Touton giant cell in variable numbers was a consistent feature of the cutaneous lesions; however, these cells were either absent or present in reduced numbers in the various extracutaneous lesions when compared with JXG in the skin. Spindle cells intermingled among the mononuclear cells or forming short fascicles were seen in both cutaneous and extracutaneous lesions. Immunohistochemistry was performed on all extracutaneous lesions, and the constituent cells, regardless of their individual morphologic features, were uniformly positive for vimentin, CD68, and factor XIIIa and negative for S-100 protein and CD1a. It is widely held that JXG is a proliferative disorder of dendrocytes, possibly dermal dendrocytes; thus, its clinical and pathologic similarities to Langerhans cell histiocytosis are not entirely unexpected in light of the most recently proposed international classification of histiocytic disorders, which includes JXG and Langerhans cell histiocytosis together as "dendritic cell-related" histiocytoses.

MAGNETIC RESONANCE IMAGING OF MUSCULOSKELETAL SOFT TISSUE MASSES

The role of MR imaging in the evaluation of children with large, deep, or infiltrative soft tissue masses is to characterize and determine the extent of the lesion for treatment planning. There are a small number of soft tissue tumors with MR imaging appearances characteristic enough to allow a specific diagnosis, obviating biopsy. In the remaining cases with nonspecific imaging appearances, MR imaging is used for anatomic staging, but tissue sampling is still required for determining histology and grading.