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Neurosurgery Feb 2021Neoplasms of the peripheral nervous system represent a heterogenous group with a wide spectrum of morphological features and biological potential. They range from benign... (Review)
Review
Neoplasms of the peripheral nervous system represent a heterogenous group with a wide spectrum of morphological features and biological potential. They range from benign and curable by complete excision (schwannoma and soft tissue perineurioma) to benign but potentially aggressive at the local level (plexiform neurofibroma) to the highly malignant (malignant peripheral nerve sheath tumors [MPNST]). In this review, we discuss the diagnostic and pathologic features of common peripheral nerve sheath tumors, particularly those that may be encountered in the intracranial compartment or in the spine and paraspinal region. The discussion will cover schwannoma, neurofibroma, atypical neurofibromatous neoplasms of uncertain biological potential, intraneural and soft tissue perineurioma, hybrid nerve sheath tumors, MPNST, and the recently renamed enigmatic tumor, malignant melanotic nerve sheath tumor, formerly referred to as melanotic schwannoma. We also discuss the diagnostic relevance of these neoplasms to specific genetic and familial syndromes of nerve, including neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. In addition, we discuss updates in our understanding of the molecular alterations that represent key drivers of these neoplasms, including neurofibromatosis type 1 and type 2, SMARCB1, LZTR1, and PRKAR1A loss, as well as the acquisition of CDKN2A/B mutations and alterations in the polycomb repressor complex members (SUZ12 and EED) in the malignant progression to MPNST. In summary, this review covers practical aspects of pathologic diagnosis with updates relevant to neurosurgical practice.
Topics: Animals; Humans; Nerve Sheath Neoplasms; Neurilemmoma; Neurofibroma; Neurofibromatoses; Peripheral Nerves; Peripheral Nervous System Neoplasms; Skin Neoplasms; Transcription Factors
PubMed: 33588442
DOI: 10.1093/neuros/nyab021 -
American Family Physician Jun 2019The Bartholin glands, located in the base of the labia minora, have a role in vaginal lubrication. Because of the presence of other glands, removal of a Bartholin gland...
The Bartholin glands, located in the base of the labia minora, have a role in vaginal lubrication. Because of the presence of other glands, removal of a Bartholin gland does not affect lubrication. Ductal blockage of these typically pea-sized structures can result in enlargement of the gland and subsequent development of Bartholin duct cysts or gland abscesses. Two percent of women will develop a cyst or an abscess in their lifetime, and physicians should be familiar with the range of treatment options. Bartholin duct cysts and gland abscesses can be treated in the office. The healing and recurrence rates are similar among fistulization, marsupialization, and silver nitrate and alcohol sclerotherapy. Needle aspiration and incision and drainage, the two simplest procedures, are not recommended because of the relatively increased recurrence rate.
Topics: Abscess; Adult; Aged; Aged, 80 and over; Ambulatory Surgical Procedures; Bartholin's Glands; Cysts; Female; Humans; Middle Aged; Practice Guidelines as Topic
PubMed: 31194482
DOI: No ID Found -
Orthopaedics & Traumatology, Surgery &... Feb 2015Simple and aneurysmal bone cysts are benign lytic bone lesions, usually encountered in children and adolescents. Simple bone cyst is a cystic, fluid-filled lesion, which... (Review)
Review
Simple and aneurysmal bone cysts are benign lytic bone lesions, usually encountered in children and adolescents. Simple bone cyst is a cystic, fluid-filled lesion, which may be unicameral (UBC) or partially separated. UBC can involve all bones, but usually the long bone metaphysis and otherwise primarily the proximal humerus and proximal femur. The classic aneurysmal bone cyst (ABC) is an expansive and hemorrhagic tumor, usually showing characteristic translocation. About 30% of ABCs are secondary, without translocation; they occur in reaction to another, usually benign, bone lesion. ABCs are metaphyseal, excentric, bulging, fluid-filled and multicameral, and may develop in all bones of the skeleton. On MRI, the fluid level is evocative. It is mandatory to distinguish ABC from UBC, as prognosis and treatment are different. UBCs resolve spontaneously between adolescence and adulthood; the main concern is the risk of pathologic fracture. Treatment in non-threatening forms consists in intracystic injection of methylprednisolone. When there is a risk of fracture, especially of the femoral neck, surgery with curettage, filling with bone substitute or graft and osteosynthesis may be required. ABCs are potentially more aggressive, with a risk of bone destruction. Diagnosis must systematically be confirmed by biopsy, identifying soft-tissue parts, as telangiectatic sarcoma can mimic ABC. Intra-lesional sclerotherapy with alcohol is an effective treatment. In spinal ABC and in aggressive lesions with a risk of fracture, surgical treatment should be preferred, possibly after preoperative embolization. The risk of malignant transformation is very low, except in case of radiation therapy.
Topics: Adolescent; Biopsy; Bone Cysts; Bone Cysts, Aneurysmal; Child; Female; Fractures, Spontaneous; Humans; Magnetic Resonance Imaging; Male; Prognosis; Risk Factors; Treatment Outcome; Young Adult
PubMed: 25579825
DOI: 10.1016/j.otsr.2014.06.031 -
Human Genomics Jun 2017Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable... (Review)
Review
BACKGROUND
Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia. However, acquired somatic mutations in NF1 are also found in a wide variety of malignant neoplasms that are not associated with NF1.
MAIN BODY
Capitalizing upon the availability of next-generation sequencing data from cancer genomes and exomes, we review current knowledge of somatic NF1 mutations in a wide variety of tumours occurring at a number of different sites: breast, colorectum, urothelium, lung, ovary, skin, brain and neuroendocrine tissues, as well as leukaemias, in an attempt to understand their broader role and significance, and with a view ultimately to exploiting this in a diagnostic and therapeutic context.
CONCLUSION
As neurofibromin activity is a key to regulating the RAS/MAPK pathway, NF1 mutations are important in the acquisition of drug resistance, to BRAF, EGFR inhibitors, tamoxifen and retinoic acid in melanoma, lung and breast cancers and neuroblastoma. Other curiosities are observed, such as a high rate of somatic NF1 mutation in cutaneous melanoma, lung cancer, ovarian carcinoma and glioblastoma which are not usually associated with neurofibromatosis type 1. Somatic NF1 mutations may be critical drivers in multiple cancers. The mutational landscape of somatic NF1 mutations should provide novel insights into our understanding of the pathophysiology of cancer. The identification of high frequency of somatic NF1 mutations in sporadic tumours indicates that neurofibromin is likely to play a critical role in development, far beyond that evident in the tumour predisposition syndrome NF1.
Topics: Genes, Neurofibromatosis 1; Humans; Mutation; Neoplasms; Neurofibromatosis 1
PubMed: 28637487
DOI: 10.1186/s40246-017-0109-3 -
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 -
Pediatric Radiology Aug 2022Aneurysmal bone cyst (ABC) is a benign but locally aggressive lesion that predominantly affects children and young adults. ABC, which accounts for approximately 70% of... (Review)
Review
Aneurysmal bone cyst (ABC) is a benign but locally aggressive lesion that predominantly affects children and young adults. ABC, which accounts for approximately 70% of the cases, is now recognized to be a true neoplasm, whereas ABC-like changes associated to other bone neoplasms (also referred in the literature as secondary ABC) accounts for the remaining 30%. The solid variant of ABC is also considered a true neoplasm but is rare. ABC can involve any bone in the body, and although it has a metaphyseal preference, it can involve any part of a bone and soft tissues. As with any bone tumor, the initial evaluation of ABCs should be done with radiographs followed by magnetic resonance imaging or less frequently computed tomography for further characterization. The imaging appearance of ABC is variable; however, a lytic and expansile lesion with fluid-fluid levels is the most common presentation. The main differential diagnosis of an ABC in the pediatric population is unicameral bone cyst (UBC) and telangiectatic osteosarcoma, therefore a biopsy is recommended before treatment. The therapeutic options of ABC range from curettage with or without adjuncts such as phenol, liquid nitrogen, argon laser and bone grafting or bone substitutes to more recently employed alternatives such as image-guided sclerotherapy with various sclerosing agents and monoclonal antibodies (e.g., Denosumab).
Topics: Bone Cysts; Bone Cysts, Aneurysmal; Bone Neoplasms; Child; Humans; Osteosarcoma; Tomography, X-Ray Computed; Young Adult
PubMed: 35941207
DOI: 10.1007/s00247-022-05396-6 -
The Pan African Medical Journal 2020Mucoceles of the oral mucous membrane are benign tumoral diseases of the minor salivary glands of the oral mucous membrane. They most commonly occur in the labial...
Mucoceles of the oral mucous membrane are benign tumoral diseases of the minor salivary glands of the oral mucous membrane. They most commonly occur in the labial mucosa. They can be caused by a break in the epithelium of the gland secreting saliva in the extra-glandular space and forming a pseudo cyst (extravasation mucoceles) or by a block in salivary flow due to an epithelial proliferation of the excretory duct forming salivary cyst (retention cyst). Various therapeutic approaches can be used. Traditional surgical resection is the most effective strategy with low recurrence rate. We here report a clinical case in order to give an update on this lesion. The patient involved in the study was treated in the Department of Dentistry and Oral Surgery, CCTD, Rabat, Morocco.
Topics: Adult; Humans; Male; Morocco; Mouth Mucosa; Mucocele; Salivary Glands, Minor
PubMed: 32655754
DOI: 10.11604/pamj.2020.35.140.21079 -
Journal of Veterinary Diagnostic... May 2021Hair follicle neoplasms occur in many different species, including humans. In domestic animals, they are most common in dogs. Most hair follicle tumors are benign, but... (Review)
Review
Hair follicle neoplasms occur in many different species, including humans. In domestic animals, they are most common in dogs. Most hair follicle tumors are benign, but malignant neoplasms can also occur. To diagnose hair follicle neoplasms, a thorough knowledge of follicular anatomy is important, given that follicular tumors are classified according to the differentiation pattern seen in the corresponding part of the normal hair follicle. This review focuses on the key diagnostic features of hair follicle tumors and follicular cysts in dogs and cats.
Topics: Animals; Cat Diseases; Cats; Cysts; Dog Diseases; Dogs; Hair Diseases; Hair Follicle; Skin Neoplasms
PubMed: 33666111
DOI: 10.1177/1040638721993565 -
Korean Journal of Radiology Mar 2020Ultrasonography (US) is usually the first imaging examination performed to evaluate palpable or visible superficial soft tissue lesions that are common in children.... (Review)
Review
Ultrasonography (US) is usually the first imaging examination performed to evaluate palpable or visible superficial soft tissue lesions that are common in children. Although clinical assessments, such as age at presentation, clinical course, and overlying skin discoloration, are important for the differentiation of pediatric soft tissue lesions, US allows a specific diagnosis of some typical benign lesions and helps in guiding further investigation since it provides detailed information about the lesion location, characterization including solid versus cystic, vascularity, and compressibility. Therefore, sufficient knowledge of the normal anatomy, proper ultrasonographic techniques, and the imaging findings of common and uncommon soft tissue lesions in children are crucial for accurate assessment and management of patients. In this article, we review the techniques and imaging findings focusing on the ultrasonographic features of a variety of superficial soft tissue lesions detected in children.
Topics: Adolescent; Child; Child, Preschool; Fasciitis; Female; Hemangioendothelioma; Humans; Infant; Infant, Newborn; Kasabach-Merritt Syndrome; Lipoblastoma; Male; Myofibromatosis; Neurofibroma; Sarcoma, Kaposi; Soft Tissue Neoplasms; Ultrasonography; Vascular Malformations
PubMed: 32090527
DOI: 10.3348/kjr.2019.0343 -
Revista Espanola de Enfermedades... Nov 2023A 47-year-old man presented with a 6-day pain in the right chest. Abdominal CT showed an elliptical homogeneous mass, which was closely related to the posterior wall of...
A 47-year-old man presented with a 6-day pain in the right chest. Abdominal CT showed an elliptical homogeneous mass, which was closely related to the posterior wall of the stomach and the lesion grew from the posterior wall of the stomach to the abdominal cavity in the wedge shape. The enhanced scan showed no enhancement in the lesion. The left adrenal gland and the upper pole, pancreas and spleen were changed due to compression. Carbohydrate antigen 72-4 (CA72-4) was 45.1U/ml (0.00~5.30 U/ml). The gastroscopy results showed that there was protruded lesion in the posterior gastric wall and atrophic gastritis in the superficial stomach. Laparoscopic exploration and partial gastrectomy were performed. An 8cm × 7cm tumor was found at the posterior wall of the fundus near the cardia, with smooth serosal surface. The cystic mass was smooth surface, filled with yellow thick liquid. Microscopically, the cystic wall tissue was lined with pseudo-stratified ciliated columnar epithelium, and mucous glands were seen under the epithelium. Pathological diagnosis showed bronchogenic cysts of the gastric submucosal. At 2-month follow-up, the postoperative recovery was good.
Topics: Male; Humans; Middle Aged; Bronchogenic Cyst; Stomach Diseases; Pancreas; Spleen
PubMed: 37882202
DOI: 10.17235/reed.2023.9964/2023