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Korean Journal of Ophthalmology : KJO Dec 2015
Topics: Adult; Cysts; Dacryocystorhinostomy; Female; Humans; Lacrimal Apparatus; Lacrimal Duct Obstruction; Male; Tomography, X-Ray Computed
PubMed: 26635461
DOI: 10.3341/kjo.2015.29.6.433 -
Journal of Neuro-oncology May 2018Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of...
Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. We performed immunohistochemistry for PD-L1 (clones SP142 and E1L3N), CD3, CD20, CD8, and CD68 in NF1-related tumors (ten dermal and six plexiform neurofibromas) and NF2-related tumors (ten meningiomas and ten schwannomas) using archival formalin-fixed paraffin-embedded tissues. Expression of PD-L1 was considered positive in cases with > 5% membranous staining of tumor cells, in accordance with previously published biomarker studies. PD-L1 expression in tumor cells (using the SP142 and E1L3N clones, respectively) was assessed as positive in plexiform neurofibromas (6/6 and 5/6) dermal neurofibromas (8/10 and 6/10), schwannomas (7/10 and 10/10), and meningiomas (4/10 and 2/10). Sparse to moderate presence of CD68, CD3, or CD8 positive TILs was found in 36 (100%) of tumor specimens. Our findings indicate that adaptive resistance to cell-mediated immunity may play a major role in the tumor immune microenvironment of NF1 and NF2-associated tumors. Expression of PD-L1 on tumor cells and the presence of TILs suggest that these tumors might be responsive to immunotherapy with immune checkpoint inhibitors, which should be explored in clinical trials for NF patients.
Topics: Adolescent; Adult; Antigens, CD; B7-H1 Antigen; Central Nervous System Neoplasms; Child; Female; Humans; Lymphocytes, Tumor-Infiltrating; Male; Meningioma; Middle Aged; Neurilemmoma; Neurofibromatosis 1; Neurofibromatosis 2; Young Adult
PubMed: 29427150
DOI: 10.1007/s11060-018-2788-6 -
Medicine Jul 2023Trichilemmal cyst (TC), also known as trichodermal cyst, trichodermal isthmus-degenerative cyst. It is a benign skin lesion originating from the outer hair root sheath,...
RATIONALE
Trichilemmal cyst (TC), also known as trichodermal cyst, trichodermal isthmus-degenerative cyst. It is a benign skin lesion originating from the outer hair root sheath, with low incidence and few reports.
PATIENT CONCERNS
A 41-year-old patient had found a scalp lump for more than 10 years. A 2.0 cm × 1.0 cm × 1.0 cm lump on the right occipital region was touched more than 10 years ago without special treatment. In the past 2 years, the lump has gradually increased. Physical examination: 4 protruding lumps can be reached in the scalp. One lump in the right occipital region is about 3.0 cm × 2.0 cm × 2.0 cm, with 1 lump immediately below and 2 lumps in the left temporal region. All lumps can be pushed.
DIAGNOSES
The lesion is located in dermis, The lesion is solid, and the contents of the cyst were cheese-like white material, and the inner and outer walls of the cyst were smooth and shiny. Pathological results showed that the lesion was TC. The cyst wall is epidermal tissue, the spinous layer and basal layer are intact, there is no granular layer, and the protein in the cyst is dense.
INTERVENTIONS
All lumps were completely surgically removed.
OUTCOMES
The wound healed well after TC resection. There was no recurrence of TC after 1 year follow-up.
LESSONS
The clinical manifestations of scalp TC are not specific, and the diagnosis needs pathological examination, and the prognosis of total excision is good.
Topics: Humans; Adult; Scalp; Skin Neoplasms; Epidermal Cyst; Prognosis; Epidermis
PubMed: 37443491
DOI: 10.1097/MD.0000000000034213 -
Taiwanese Journal of Obstetrics &... May 2019Endosalpingiosis rarely occurs in the uterus. We report a case and review literature to explore its current clinical diagnosis and treatment. (Review)
Review
OBJECTIVE
Endosalpingiosis rarely occurs in the uterus. We report a case and review literature to explore its current clinical diagnosis and treatment.
CASE REPORT
A 31-year-old woman was admitted to the hospital for suspected uterine leiomyoma with cystic degeneration based on ultrasound and magnetic resonance imaging and surgical treatment. Laparoscopy revealed a large cystic mass protruding from the posterior uterine wall. The mass was resected, and a histologic examination showed that the cyst wall was lined with benign fallopian tube-type ciliated epithelium surrounded by normal myometrium, consistent with the diagnosis of endosalpingiosis of the uterus (also known as a Müllerian cyst). Currently, there are 18 cases (including ours) in the literature. Of these, two had a uterine malignancy, one endometrioid endometrial carcinoma, and another cervical adenocarcinoma. The age at diagnosis varied from 31 to 73, with a mean of 47 ± 8. The typical clinical manifestations were a palpable low abdominal mass, abnormal menstrual bleeding, and pelvic pain. Overall, 75% (12 of 16) of patients underwent a total hysterectomy, while 62.5% (10 in 16) had a concomitant bilateral salpingo-oophorectomy for nonmalignancy. No recurrence was reported.
CONCLUSION
We describe the youngest patient with tumor-like uterine endosalpingiosis. The preoperative diagnosis is challenging because of its rarity. Most patients had a hysterectomy with castration, which may have resulted in overtreatment. Awareness of this lesion is necessary for the differential diagnosis of uterine and adnexal tumors. Review of relevant literature has shown a relationship between endosalpingiosis progression and cancer development, indicating an uncertain and complicated pathology.
Topics: Adult; Cysts; Fallopian Tube Diseases; Female; Humans; Myometrium; Uterine Neoplasms
PubMed: 31122517
DOI: 10.1016/j.tjog.2019.03.006 -
In Vivo (Athens, Greece) 2018This article includes a comprehensive and up-to-date review on the cysts of the oral cavity. Several classifications of odontogenic (OC) and non-odontogenic (non-OC)... (Review)
Review
This article includes a comprehensive and up-to-date review on the cysts of the oral cavity. Several classifications of odontogenic (OC) and non-odontogenic (non-OC) oral cysts and the surrounding regions have been proposed. We suggest a new critical classification based on an established relationship between anatomical area, histological origin and clinical behavior (frequency, rate of recurrence, malignant potential). Moreover, the differential cytokeratin (CKs) expression of the various cysts is reported as epithelium-specific markers of differential diagnosis. Finally, issues related to differential diagnosis and therapeutic approaches of the cysts included in the two groups are described.
Topics: Bone Cysts; Connective Tissue Diseases; Cysts; Diagnosis, Differential; Humans; Mouth Diseases; Odontogenic Cysts; Periodontal Cyst
PubMed: 30150421
DOI: 10.21873/invivo.11340 -
Thorax Jun 1978The experience of one regional thoracic surgical unit in managing intrathoracic neural tumours over a 25-year period is presented. Neural tumour was diagnosed in 55...
The experience of one regional thoracic surgical unit in managing intrathoracic neural tumours over a 25-year period is presented. Neural tumour was diagnosed in 55 patients, of whom 41 were asymptomatic. In 11 patients complete resection was not achieved--the reasons for this and its effect on the outcome of the patient are discussed. There were 52 posterior mediastinal and three lateral chest wall tumours. The pathological distribution was as follows--benign nerve sheath tumours (neurofibroma, neurilemoma) 39, ganglioneuroma 13, and neuroblastoma 3. One neurofibroma recurred as a neurosarcoma six years after its apparently complete resection and was removed by an extensive resection at reoperation. One neuroblastoma recurred within the spinal canal four years after incomplete excision at thoracotomy--this patient died subsequently of widespread metastatic neuroblastoma. No other tumour is known to have recurred.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Female; Ganglioneuroma; Humans; Infant; Male; Mediastinal Neoplasms; Methods; Middle Aged; Neoplasms, Nerve Tissue; Neurilemmoma; Neuroblastoma; Neurofibroma; Radiography; Thoracic Neoplasms
PubMed: 210531
DOI: 10.1136/thx.33.3.359 -
Journal of Veterinary Diagnostic... Mar 2023Splenic epithelial cysts are rare in humans and have not been reported in animals, to our knowledge. During a routine medical examination of a 12-y-old castrated male...
Splenic epithelial cysts are rare in humans and have not been reported in animals, to our knowledge. During a routine medical examination of a 12-y-old castrated male Maltese dog, a splenic mass was found and subsequently removed via splenectomy. Histologically, a well-defined multilocular cyst in the spleen was lined mostly by simple cuboidal, multifocally by stratified cuboidal, or occasionally by stratified squamous epithelium. Immunohistochemically, the lining cells were positive for cytokeratin and negative for vimentin, CD31, and Wilms tumor protein 1. The case was diagnosed as a primary splenic epidermoid cyst.
Topics: Animals; Dogs; Male; Dog Diseases; Epidermal Cyst; Epithelium; Splenectomy; Splenic Diseases
PubMed: 36645142
DOI: 10.1177/10406387221150626 -
The Journal of Clinical Investigation Jun 2023Neurofibromatosis type 1 (NF1) is one of the most common tumor-predisposing genetic disorders. Neurofibromas are NF1-associated benign tumors. A hallmark feature of...
Neurofibromatosis type 1 (NF1) is one of the most common tumor-predisposing genetic disorders. Neurofibromas are NF1-associated benign tumors. A hallmark feature of neurofibromas is an abundant collagen-rich extracellular matrix (ECM) that constitutes more than 50% of the tumor dry weight. However, little is known about the mechanism underlying ECM deposition during neurofibroma development and treatment response. We performed a systematic investigation of ECM enrichment during plexiform neurofibroma (pNF) development and identified basement membrane (BM) proteins, rather than major collagen isoforms, as the most upregulated ECM component. Following MEK inhibitor treatment, the ECM profile displayed an overall downregulation signature, suggesting ECM reduction as a therapeutic benefit of MEK inhibition. Through these proteomic studies, TGF-β1 signaling was identified as playing a role in ECM dynamics. Indeed, TGF-β1 overexpression promoted pNF progression in vivo. Furthermore, by integrating single-cell RNA sequencing, we found that immune cells including macrophages and T cells produce TGF-β1 to induce Schwann cells to produce and deposit BM proteins for ECM remodeling. Following Nf1 loss, neoplastic Schwann cells further increased BM protein deposition in response to TGF-β1. Our data delineate the regulation governing ECM dynamics in pNF and suggest that BM proteins could serve as biomarkers for disease diagnosis and treatment response.
Topics: Humans; Neurofibromatosis 1; Transforming Growth Factor beta1; Membrane Proteins; Proteomics; Neurofibroma; Protein Kinase Inhibitors; Collagen; Basement Membrane; Extracellular Matrix; Mitogen-Activated Protein Kinase Kinases; Schwann Cells
PubMed: 37140985
DOI: 10.1172/JCI168227 -
Child's Nervous System : ChNS :... Oct 2020Peripheral nerve sheath tumors are hallmark findings in neurofibromatosis types 1 and 2. With increasing size, they typically lead to neurological symptoms, and NF1... (Review)
Review
PURPOSE
Peripheral nerve sheath tumors are hallmark findings in neurofibromatosis types 1 and 2. With increasing size, they typically lead to neurological symptoms, and NF1 patients have a lifetime risk of 8-13% for developing malignant peripheral nerve sheath tumors. Medical imaging is therefore highly needed for early detection and exact localization of symptomatic or potentially malignant tumors. This review will give an overview of the ultrasound characteristics of peripheral nerve sheath tumors and findings in patients with neurofibromatosis types 1 and 2.
METHODS
A systematic search of electronic databases, reference lists, and unpublished literature was conducted including the keywords "schwannoma," "neurofibroma," "neurofibromatosis," "benign and malignant peripheral nerve sheath tumor."
RESULTS
The high-resolution allows a clear analysis of tumor echotexture, definition of margins, and the relation to the parent nerve. The use of color duplex/Doppler and contrast agent adds valuable information for the differentiation of benign and malignant tumors.
CONCLUSION
High-resolution ultrasound is a well-established, non-invasive, and easily repeatable first-line tool in diagnostic procedures of soft tissue tumors.
Topics: Child; Humans; Nerve Sheath Neoplasms; Neurilemmoma; Neurofibroma; Neurofibromatosis 1; Peripheral Nervous System Neoplasms
PubMed: 32561982
DOI: 10.1007/s00381-020-04718-z -
International Journal of Hyperthermia :... 2023Microwave ablation (MWA) is a promising modality that needs to be further investigated for cystic lesions. The present study aimed to determine the effects of MWA on...
BACKGROUND AND PURPOSE
Microwave ablation (MWA) is a promising modality that needs to be further investigated for cystic lesions. The present study aimed to determine the effects of MWA on cysts and cystic neoplasms with a tissue-mimicking model.
METHODS
Twenty New Zealand White rabbits were randomly divided into Group A (cyst mimic models, = 10, φ = 5 cm) and Group B (cystic neoplasm mimicking models, = 10, φ = 5 cm). For each group, rabbit healthy bladder and VX2-implanted tumor bladder were fixed and embedded in agarose gel to mimic cyst and cystic neoplasm. In the MWA experimental subgroups, microwave antennas guided by computed tomography (CT) were introduced into these models. A system thermometer was placed at the outer edge of the bladder wall to monitor temperature changes. Immediately after MWA, rabbit healthy bladders and VX2-implanted tumor bladders were harvested for gross anatomy and prepared for pathological evaluation.
RESULTS
A total of twenty cyst and cystic neoplasm mimicking models were successfully developed. Ninety percent of the MWA procedures were successful, and no peri-procedural complications were encountered. The temperature of the cystic wall increased with duration in both MWA experimental subgroups and an effective ablation temperature (>60 °C) was achieved. Pathological examination of the cyst and cystic neoplasm mimic models revealed degenerative necrosis of the bladder wall mucosal epithelial cells, loss of bladder wall tissue structure and coagulative necrosis of VX2 tumor cells.
CONCLUSION
Our data indicate that MWA could cause thermal damage to the tissue structure of cyst and cystic neoplasm, and it is an effective technique for treating cystic diseases.HIGHLIGHTS rabbit healthy bladder and VX2-implanted tumor bladder were fixed and embedded in agarose gel to mimic cyst and cystic neoplasm.The temperature of the cystic wall increased with MWA duration and an effective ablation temperature (> 60 °C) was achieved.MWA could cause thermal damage to the tissue structure of the cyst and cystic neoplasm and it is effective in treating cystic diseases, as assessed by histopathology.
Topics: Animals; Rabbits; Ablation Techniques; Catheter Ablation; Cysts; Microwaves; Necrosis; Neoplasms, Cystic, Mucinous, and Serous; Sepharose
PubMed: 37336517
DOI: 10.1080/02656736.2023.2220561