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Canadian Association of Radiologists... May 2020Imaging studies of the hands and fingers are common, and radiologists are generally comfortable with traumatic and degenerative conditions which arise frequently in... (Review)
Review
Imaging studies of the hands and fingers are common, and radiologists are generally comfortable with traumatic and degenerative conditions which arise frequently in daily practice. However, a variety of common and uncommon soft-tissue tumors also occur in the hand, the appropriate diagnosis of which can be a source of confusion for both clinicians and radiologists. These lesions often have overlapping imaging characteristics; however, a structured approach can help provide a focused differential diagnosis and impact further workup and management. We discuss several such tumors, categorizing them as cystic-appearing, noncystic masses along tendons and aponeuroses, adipocytic tumors, vascular lesions, and miscellaneous lesions with imaging features that can aid diagnosis.
Topics: Arteriovenous Malformations; Diagnosis, Differential; Epidermal Cyst; Fasciitis; Fibroma; Ganglion Cysts; Giant Cell Tumor of Tendon Sheath; Glomus Tumor; Hand; Humans; Lipoma; Magnetic Resonance Imaging; Neurilemmoma; Neurofibroma; Radiography; Sarcoma, Synovial; Soft Tissue Neoplasms; Synovial Cyst; Ultrasonography
PubMed: 32063006
DOI: 10.1177/0846537119888356 -
BMC Cancer Jun 2023Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS... (Review)
Review
Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection. However, surgery carries several risks and a proportion of PN are considered inoperable. Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the MEK1/2 inhibitor selumetinib has shown promising efficacy in pediatric patients with NF1 and symptomatic, inoperable PN. In a phase I/II trial, most children (approximately 70%) achieved reduction in tumor volume accompanied by improvements in patient-reported outcomes (decreased tumor-related pain and improvements in quality of life, strength, and range of motion). Selumetinib is currently the only licensed medical therapy indicated for use in pediatric patients with symptomatic, inoperable NF1-PN, with approval based on the results of this pivotal clinical study. Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. Careful consideration of multiple aspects of both disease and treatments is vital to reduce morbidity and improve outcomes in patients with this complex and heterogeneous disease, and clinicians should be fully aware of the risks and benefits of available treatments. There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. This review outlines the treatment strategies currently available for patients with NF1-PN and the evidence supporting the use of MEK inhibitors, and discusses key considerations in clinical decision-making.
Topics: Child; Humans; Neurofibromatosis 1; Neurofibroma, Plexiform; Quality of Life; Protein Kinase Inhibitors; Mitogen-Activated Protein Kinase Kinases
PubMed: 37328781
DOI: 10.1186/s12885-023-10996-y -
The Journal of Craniofacial Surgery Sep 2020The postauricular region (PR) is an anatomic area that has been neglected until now, due to the fact that the significant cosmetic changes and features of this region...
OBJECTIVE
The postauricular region (PR) is an anatomic area that has been neglected until now, due to the fact that the significant cosmetic changes and features of this region are often overlooked. There are limited and inconsistent data about postauricular masses in the literature and the definition of the PR and its borders remain unclear. The aim of the present study was to define the PR and evaluate benign and malignant masses that may arise in the PR.
METHODS
Fifty-two patients were enrolled in the study. The patients were evaluated retrospectively in terms of demographic data, including age, gender, operative method, lesion side and size, diagnostic tools, and histopathologic diagnosis of the masses.
RESULTS
The masses were categorized into 4 groups according to the etiology; neoplastic (n: 15, 28.8%), inflammatory (n: 13, 25%), congenital (n: 22, 42.3%) and traumatic (n: 2, 3.8%). Of the neoplastic masses, 6 (11.5%) were nonmelanoma skin cancer, comprising 4 (7.6%) basal cell carcinomas and 2 (3.8%) squamous cell carcinomas. A total of 9 (17.3%) neoplastic masses were benign, comprising 3 (5.7%) lipomas, 3 (5.7%) temporal bone osteomas, 2 (3.8%) nevi, and 1 (1.9%) plexiform neurofibroma. Of the 13 (25%) inflammatory masses, 12 (23%) were lymph nodes and 1 (1.9%) was pilonidal sinus. There were 22 (42.3%) congenital masses comprising 15 (28.8%) epidermal cysts, 4 (7.6%) dermoid cysts, and 3 (5.7%) hemangiomas. The 2 (3.8%) patients with traumatic lesion were both keloid patients.
CONCLUSION
The PR does not attract attention from the cosmetic point of view but many benign and malignant masses can be found in this region. Any masses detected in this area should be treated to prevent further growth.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Diagnosis, Differential; Ear, External; Epidermal Cyst; Female; Humans; Lymph Nodes; Male; Middle Aged; Neurofibroma, Plexiform; Retrospective Studies; Temporal Bone; Young Adult
PubMed: 32604279
DOI: 10.1097/SCS.0000000000006526 -
Revista de La Facultad de Ciencias... 2016The neurofibroma is a benign tumor that grows from the sheath of the peripheral nerves, which is often localized on superficial tissues, especially in isolated forms.... (Review)
Review
The neurofibroma is a benign tumor that grows from the sheath of the peripheral nerves, which is often localized on superficial tissues, especially in isolated forms. The neurofibromas can be of two types, localized or diffuse, the last one closely related to Von Recklinghausen disease or NF-1. We described a 37 years old male e patient, 37 years without symptoms, and the computed tomography scan (CT), and magnetic resonance imaging showed a tumor in proximity to the right kidney, the psoas muscle, the spine and compressing the cava vein, but cannot be accurately determinate the invasion of these structures. We review the differential diagnosis, therapeutic and the management of this disease in this clinical case.
Topics: Adult; Diagnosis, Differential; Humans; Male; Neurofibroma; Retroperitoneal Neoplasms
PubMed: 27805557
DOI: No ID Found -
Der Radiologe Oct 2004Tumor-like bone lesions include various conditions of a non-neoplastic nature originating from or affecting the bone as solitary or sometimes multiple bone lesions. This... (Comparative Study)
Comparative Study
Tumor-like bone lesions include various conditions of a non-neoplastic nature originating from or affecting the bone as solitary or sometimes multiple bone lesions. This review discusses the most important cystic tumor-like lesions, such as simple bone cyst, aneurysmal bone cyst, intraosseous ganglion, epidermoid cyst and subchondral cyst. MR is the most sensitive method of detection, and is the most accurate in depicting the extent of involvement of these lesions. MR signal characteristics may aid in differential diagnosis. Conventional radiographs are often more specific with respect to the underlying histopathology.
Topics: Bone Cysts; Bone Cysts, Aneurysmal; Bone Neoplasms; Bone and Bones; Cementoma; Diagnosis, Differential; Epidermal Cyst; Humans; Magnetic Resonance Imaging; Radiography; Radionuclide Imaging; Sensitivity and Specificity
PubMed: 15448905
DOI: 10.1007/s00117-004-1114-9 -
Seminars in Musculoskeletal Radiology Apr 2022Nerve tumors are uncommon soft tissue neoplasms predominantly arising from peripheral nerve sheath and Schwann cells. We review the manifestations of benign peripheral... (Review)
Review
Nerve tumors are uncommon soft tissue neoplasms predominantly arising from peripheral nerve sheath and Schwann cells. We review the manifestations of benign peripheral nerve sheath tumors, concentrating on distinguishing imaging features of schwannomas versus neurofibromas with an emphasis on treatment implications. Nevertheless, there is often an overlap between the imaging presentation of these two conditions, making the accurate radiologic diagnosis challenging. Therefore, tissue sampling is often needed for a definitive histologic diagnosis. Treatment planning largely depends on symptoms, location of the lesion, and underlying risk factors. Three major syndromes, neurofibromatosis type 1, type 2, and schwannomatosis, predispose patients to peripheral nerve sheath tumors (PNSTs), with particular concern about the malignant subtype expression. In patients with suspected PNSTs, correlation of imaging findings with clinical findings and genetic tests is helpful for a more accurate diagnosis and disease management. Some imaging features on magnetic resonance imaging and fluorodeoxyglucose-positron emission tomography can be helpful to differentiate malignant from benign subtypes.
Topics: Humans; Magnetic Resonance Imaging; Nerve Sheath Neoplasms; Neurilemmoma; Neurofibroma; Peripheral Nervous System Neoplasms
PubMed: 35609578
DOI: 10.1055/s-0042-1742704 -
Journal of Child Neurology Oct 2015The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive... (Review)
Review
The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive soft tissue neurofibroma patients and illustration of clinical and radiological progression of massive soft tissue neurofibroma on a patient with neurofibromatosis type 1. The mean age at initial examination was 21 years. Tumor onset was mostly in childhood years. The commonest affected body segment was the lower extremity (46%), followed by head/neck (30%). Surgical management was pursued in the majority of cases (79%). Bleeding was a common complication (25%). Recurrence was described in 12%; multiple resections cases were described. Malignant transformation occurred in 5%. Although massive soft tissue neurofibroma may be present early in life, massive tumor overgrowth may take years. Predicting disease progression and/or benefit of surgical intervention early in the disease course is challenging. Recurrence and malignant transformation are possible. Massive soft tissue neurofibroma does not respond to chemotherapy or radiotherapy and is associated with life-threatening surgical complications.
Topics: Adult; Humans; Male; Neurofibroma; Soft Tissue Neoplasms
PubMed: 25694465
DOI: 10.1177/0883073815571635 -
American Journal of Medical Genetics Mar 1999Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). They account for substantial morbidity, including... (Review)
Review
Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). They account for substantial morbidity, including disfigurement, functional impairment, and may even be life threatening. Plexiform neurofibromas are also subject to transformation into malignant peripheral nerve sheath tumor (MPNST), a complication that is refractory to treatment both because of a paucity of effective therapies for malignant soft tissue sarcomas in general, and because of the delay in diagnosis that results from change of a small portion of a large pre-existing tumor. The current mainstay of treatment of plexiform neurofibromas, and of MPNST for that matter, is surgical resection. The major variables are the timing and means of identification of plexiform neurofibromas, methods of follow-up, and indications for surgery. There is no established means of medical treatment, but research into the molecular pathogenesis of NF1, as well as advances in tumor therapy in general, are opening the way towards clinical trials for plexiform neurofibroma. Am. J. Med. Genet. (Semin. Med. Genet.) 89:31-37, 1999.
Topics: Humans; Magnetic Resonance Imaging; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 10469434
DOI: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w -
Journal of Medical Imaging and... Oct 2018
Topics: Diagnosis, Differential; Humans; Nerve Sheath Neoplasms; Neurilemmoma; Neurofibroma; Soft Tissue Neoplasms
PubMed: 30309199
DOI: 10.1111/1754-9485.34_12786 -
Seminars in Diagnostic Pathology Sep 2017Benign and malignant peripheral nerve sheath tumors can involve the breast, presenting as masses in the dermis, deep breast parenchyma or axillary soft tissue. Although... (Review)
Review
Benign and malignant peripheral nerve sheath tumors can involve the breast, presenting as masses in the dermis, deep breast parenchyma or axillary soft tissue. Although the histologic features are frequently characteristic, diagnosis can be challenging on core needle biopsy, and the differential diagnosis includes a variety of other benign and malignant spindle cell lesions of the breast. Here, we review the key clinical and pathological features of breast schwannoma, neurofibroma, granular cell tumor, and malignant peripheral nerve sheath tumor.
Topics: Biomarkers, Tumor; Biopsy; Breast Neoplasms; Diagnosis, Differential; Female; Granular Cell Tumor; Humans; Immunohistochemistry; Neurilemmoma; Neurofibroma; Predictive Value of Tests; Prognosis
PubMed: 28647116
DOI: 10.1053/j.semdp.2017.05.011