Giant plexiform neurofibroma (PNs) are benign peripheral nerve sheath tumors known to contain multiple fascicles of nerve and numerous friable vascular components. Most consult due to significant disfigurement and functional deficit. Though surgery is the current standard of therapy, there is high reservation in pushing through with resection in most cases. The reservation stems from the recognized difficulty in controlling intraoperative life-threatening hemorrhage. A 25-year-old female came in our institution due to multiple debilitating giant PNs on her scalp, back, neck, shoulder, and chest. She opted for debulking surgery despite possible complications and recurrence. Multiple modalities used to prevent massive bleeding in this case included preoperative arterial embolization, energy sealing device, cutting linear stapler, and interlocking retention sutures. The aim of this case report was to discuss the utility of each of these techniques, the advantages and disadvantages of each approach based on our experience.
Neurofibroma, Plexiform ; Hemorrhage

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 × 1.5 × 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan-A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. CONCLUSIONS: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.
Anesthesia, General ; Attention Deficit Disorder with Hyperactivity ; Biopsy ; Child ; Diagnosis, Differential ; Eyelids* ; Humans ; Male ; MART-1 Antigen ; Myopia ; Neurofibroma ; Neurofibroma, Plexiform* ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma ; Rare Diseases ; S100 Proteins

No abstract available.
Humans ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Neurofibroma* ; Neurofibroma, Plexiform ; Neurofibromatoses* ; Neurofibromatosis 1

Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common. We describe a patient who suffered from plexiform neurofibromatosis with liver involvement. A 49-year-old man, who had previously been diagnosed with neurofibromatosis, underwent esophagogastroduodenoscopy and abdominal ultrasonography for screening purposes. Esophagogastroduodenoscopy showed grade 2 esophageal varices and abdominal ultrasonography showed conglomerated nodules with echogenic appearances in the perihepatic space. Magnetic resonance imaging showed presumed plexiform neurofibroma involving the lesser sac and hepatic hilum and encasing the common hepatic artery celiac trunk and superior mesenteric artery left portal triad. We report an unusual case of portal hypertension attributed to the compressive narrowing of the portal vein by presumed as plexiform neurofibroma at the lesser sac and hepatic hilum.
Abdomen/diagnostic imaging ; Endoscopy, Digestive System ; Esophageal and Gastric Varices/pathology ; Hepatic Artery/diagnostic imaging ; Humans ; Hypertension, Portal/*diagnosis ; Liver/diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurofibroma, Plexiform/*diagnosis/diagnostic imaging ; Tomography, X-Ray Computed ; Ultrasonography

BACKGROUND AND PURPOSE: Individualized drug testing for tumors using a strategy analogous to antibiotic tests for infectious diseases would be highly desirable for personalized and individualized cancer care. METHODS: Primary cultures containing tumor and nontumor stromal cells were utilized in a novel strategy to test drug responses with respect to both efficacy and specificity. The strategy tested in this pilot study was implemented using four primary cultures derived from plexiform neurofibromas. Responses to two cytotoxic drugs (nilotinib and imatinib) were measured by following dose-dependent changes in the proportions of tumor and nontumor cells, determined by staining them with cell-type-specific antibodies. The viability of the cultured cells and the cytotoxic effect of the drugs were also measured using proliferation and cytotoxicity assays. RESULTS: The total number of cells decreased after the drug treatment, in accordance with the observed reduction in proliferation and increased cytotoxic effect upon incubation with the two anticancer drugs. The proportions of Schwann cells and fibroblasts changed dose-dependently, although the patterns of change varied between the tumor samples (from different sources) and between the two drugs. The highly variable in vitro drug responses probably reflect the large variations in the responses of tumors to therapies between individual patients in vivo. CONCLUSIONS: These preliminary results suggest that the concept of assessing in vitro drug responses using primary cultures is feasible, but demands the extensive further development of an application for preclinical drug selection and drug discovery.
Antibodies ; Cells, Cultured ; Communicable Diseases ; Drug Discovery ; Fibroblasts ; Humans ; Precision Medicine ; Neurofibroma, Plexiform* ; Pilot Projects ; Schwann Cells ; Sensitivity and Specificity ; Stromal Cells

PURPOSE: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. METHODS: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. RESULTS: Age of the patients at the time of NF1 diagnosis was 15.8+/-14.6 years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, Cafe-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: p.Arg2517*, p.Cys2371*; one small deletion: p.Leu1944Phefs*6). CONCLUSION: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.
Brain ; Cafe-au-Lait Spots ; Codon, Nonsense ; Diagnosis ; Female ; Genes, Neurofibromatosis 1 ; Hamartoma ; Humans ; Intellectual Disability ; Korea ; Male ; Mutation, Missense ; Nervous System ; Neurofibroma ; Neurofibroma, Plexiform ; Neurofibromatosis 1* ; Peripheral Nerves ; Retrospective Studies ; Seizures ; Skin ; Thorax

Adolescent ; Humans ; Male ; Neurofibroma, Plexiform ; Neurofibromatoses ; Parotid Neoplasms

Neurofibroma may present as a solitary lesion or as multiple lesions. Although there is no site of predilection for solitary lesions, occurrence on the hand is rare. Plexiform neurofibroma can develop in isolation or more commonly as a part of neurofibromatosis type 1. In those that apper in isolation, trauma has been suggested as a precipitating factor. A 68-year-old male farmer had experienced repetitive prior episodes of trauma in the involved finger. He presented with a painless mass on the dorsal aspect of the fifth finger. Physical examination showed a protruding mass measuring approximately 15x20 mm which was not tenderness to palpation and any skin changes or pigmentation. Ultrasonography showed a cystic mass on the dorsal aspect of the middle phalanx. Microsurgical dissection was applied in order to seperated the lesion from the ulnar side of the dorsal branch of the digital nerve. Pathologic examination of the specimens revealed neurofibroma. At three-month follow-up, motor and sensory function were intact, and range of motion was fully recovered. Traumatic solitary neurofibroma is a rare tumor of the hand, especially in the finger. Hand surgeons should be aware of the diagnostic possibilities of this tumor based on examination, history taking and imaging studies.
Aged ; Fingers* ; Follow-Up Studies ; Hand ; Humans ; Male ; Neurofibroma* ; Neurofibroma, Plexiform ; Neurofibromatosis 1 ; Palpation ; Physical Examination ; Pigmentation ; Precipitating Factors ; Range of Motion, Articular ; Sensation ; Skin ; Ultrasonography

Astrocytoma ; metabolism ; pathology ; surgery ; Brain Neoplasms ; metabolism ; pathology ; surgery ; Child, Preschool ; Diagnosis, Differential ; Ependymoma ; metabolism ; pathology ; Female ; Follow-Up Studies ; Glial Fibrillary Acidic Protein ; metabolism ; Humans ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Neurofibroma, Plexiform ; metabolism ; pathology ; S100 Proteins ; metabolism ; Vimentin ; metabolism

Ancient schwannoma is a rare variant of schwannoma and a slow growing benign tumor associated with degeneration that may be diagnosed as a malignant tumor, because it presents with a large size and an inhomogeneous signal intensity. The main differential diagnosis of plexiform soft tissue tumor includes plexiform neurofibroma, malignant peripheral nerve sheath tumor (MPNST). In this case, we describe the MRI findings in a case of ancient schwannoma involving left thigh of a 63-year-old woman mimicking a plexiform MPNST. The tumor appeared as an inhomogeneous signal intensity and multinodular appearance, causing misdiagnosis as a plexiform MPNST.
Diagnosis, Differential ; Diagnostic Errors ; Female ; Humans ; Middle Aged ; Nerve Sheath Neoplasms ; Neurilemmoma ; Neurofibroma, Plexiform ; Peripheral Nerves ; Thigh