Adult ; Ear Canal ; pathology ; Ear Neoplasms ; Female ; Humans ; Neurofibromatoses

We report a case of suspicious neurofibromatosis associated with multiple spinal tumors with dual pathology. The patient was a 16-year-old girl who had developed progressive paraparesis for 6 months. She had cafe-au-lait spots and multiple subcutaneous nodule. Magnetic resonance(MR) imaging of the lumbar spine had shown dumbbell-shape spinal tumor at L1-2. The tumor had been removed successfully at the local hospital. But, she had got worse to paraplegia. Postoperative MR image of the whole spine had revealed multiple spinal tumors at T3-4, T6-7, C2-3, C7-T1. She underwent 3 additional operations to remove the compressive lesions. Histopathologic findings documented 3 schwannomas and 2 meningiomas. She improved dramatically and was discharged from the hospital. Subsequent MR images of the whole spine revealed numerous small spinal tumors around the spinal cord and cauda quina.
Adolescent ; Cafe-au-Lait Spots ; Female ; Humans ; Meningioma* ; Neurilemmoma* ; Neurofibromatoses ; Paraparesis ; Paraplegia ; Pathology ; Spinal Cord ; Spine

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. MATERIALS AND METHODS: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic MPNST (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared. RESULTS: Patients with NF-MPNST had a significantly lower median age (32 years vs. 45 years for sMPNST, p=0.012), significantly larger median tumor size (8.2 cm vs. 5.0 cm for sMPNST, p < 0.001), and significantly larger numbers of imaging studies and surgeries (p=0.004 and p < 0.001, respectively). The 10-year overall survival (OS) rate of the patients with MPNST was 52±6%. Among the patients with localized MPNST, patients with NF-MPNST had a significantly lower 10-year OS rate (45±11% vs. 60±8% for sMPNST, p=0.046). Univariate analysis revealed the resection margin, pathology grade, and metastasis to be significant factors affecting the OS (p=0.001, p=0.020, and p < 0.001, respectively). Multivariate analysis of the patients with localized MPNST identified R2 resection and G1 as significant prognostic factors for OS. CONCLUSION: NF-MPNST has different clinical features from sMPNST and requires more careful management. Further study will be needed to develop specific management plans for NF-MPNST.
Humans ; Korea ; Multivariate Analysis ; Neoplasm Metastasis ; Neurilemmoma* ; Neurofibromatoses* ; Neurofibromatosis 1* ; Pathology ; Sarcoma ; Seoul

Biopsy ; Child, Preschool ; Clitoris ; pathology ; Disorders of Sex Development ; diagnosis ; pathology ; Female ; Genitalia, Female ; abnormalities ; Humans ; Hypertrophy ; Magnetic Resonance Imaging ; Neurofibromatoses ; diagnosis ; pathology ; Vulvar Neoplasms ; diagnosis ; pathology

BACKGROUNDSchwannomatosis is a recently recognized peripheral nerve polyneoplasm with clinical characteristics and a genetic background that differ from those of neurofibromatosis 2 (NF2). The diagnostic and treatment criteria of this rare disorder are herein discussed.

METHODSThe data of 180 patients who underwent operations for benign schwannomas from 2003 to 2012 in our center were reviewed. Eight of them were classified as schwannomatosis according to the diagnostic criteria suggested by MacCollin. The demographic characteristics were documented and compared between the two groups of patients. The patients' clinical presentations, imaging characteristics, histological features, and treatment results were retrospectively investigated and summarized.

RESULTSOf the 180 cases of benign schwannomas we reviewed this time, eight patients presented with schwannomatosis (4.44%). The mean age of the two groups was not significantly different (40.0 vs. 44.7 years, t = 0.88, P = 0.378). However, schwannnomatosis seems to more generally occur in females (75% vs. 48% were females, P = 0.162), although the difference was not statistically significant. The initial main symptom was pain. The neurological examination was otherwise normal. Magnetic resonance imaging (MRI) revealed multiple discrete, well-defined round, or oval lesions distributed along the course of the peripheral nerves in the extremities with low-to-intermediate signal intensity on T1-weighted images and high-signal intensity on T2-weighted images. Vestibular schwannomas were excluded in four patients by cranial MRI. The lesions in all patients were resected and were pathologically proven to be schwannomas. The average follow-up period was 26 months. Six individuals obtained a good result without symptoms or function loss.

CONCLUSIONSSchwannomatosis is characterized by the development of multiple schwannomas without evidence of the vestibular tumors that are diagnostic for NF2. It commonly occurs in middle-aged females. It has similar demographic features to solitary benign schwannoma. Surgical resection always results in a good outcome.

Adult ; Female ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurilemmoma ; genetics ; pathology ; surgery ; Neurofibromatoses ; genetics ; pathology ; surgery ; Skin Neoplasms ; genetics ; pathology ; surgery

In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. Magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.
Brachial Plexus Neuropathies/*pathology/surgery ; Case Report ; Cranial Nerve Neoplasms/*pathology/surgery ; Female ; Human ; Magnetic Resonance Imaging ; Middle Age ; Neurilemmoma/*pathology/surgery ; Neurofibromatoses/*pathology ; Spinal Canal/*pathology ; Trigeminal Nerve Diseases/*pathology/surgery ; Vestibulocochlear Nerve Diseases/*pathology/surgery

Although the head and neck region is recognized as the most common location for peripheral nerve sheath tumors, central involvement, particularly in the jaw bones, is quite unusual. Neurofibroma is one of the most common nerve sheath tumors occurring in the soft tissue and generally appears in neurofibromatosis 1 (NF1 or von Recklinghausen's disease). Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in the soft tissue. Here, we report four cases of intraosseous peripheral nerve sheath tumors occurring in the jaw bones and compare the clinical, radiologic, and pathologic findings in order to make a differential diagnosis.
X-Rays ; Sarcoma/*diagnosis ; Neurofibromatoses/pathology ; Neurofibroma/*pathology ; Nerve Sheath Neoplasms/*diagnosis ; Male ; Jaw/*radiography ; Humans ; Female ; Diagnosis, Differential ; Child ; Bone Neoplasms/*diagnosis ; Adult ; Adolescent

Type 1 neurofibromatosis (von Recklinghausen's disease, NF-1) is an autosomal-dominant neurocutaneous-disorder characterized by systemic cafe'-au-lait spots, multiple cutaneous neurofibromas, axillary or inguinal freckling, and Lisch nodules (pigmented iris hamartomas). Approximately 10-25% of NF1 patients have gastrointestinal neoplasms. Gastrointestinal stromal tumor (GIST) in patients with neurofibromatosis is most commonly found in the small bowel and the stomach, and approximately 60% of such patients have multiple tumors or multiple tumor sites. Although, the increased incidence of GIST in patients with neurofibromatosis is well documented in pathology literature in English, but has rarely been documented in Korea. Here, we report a case of multiple GISTs in a 48-year-old woman accompanied by NF1. She was admitted to Yeungnam University Hospital with complaints of melena and dyspnea. A contrast-enhanced computed tomography (CT) scan revealed that multiple soft tissue masses were occupying the entire peritoneal cavity. An ultrasonogram- guided biopsy was performed and the tumors were found to have been composed of tumor cells that were positive for c-kit protein. The patient was put on Imatinib mesylate treatment, and further follow-up will be carried out.
Biopsy ; Dyspnea ; Female ; Follow-Up Studies ; Gastrointestinal Neoplasms ; Gastrointestinal Stromal Tumors* ; Humans ; Incidence ; Iris ; Korea ; Melena ; Mesylates ; Middle Aged ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1* ; Pathology ; Peritoneal Cavity ; Proto-Oncogene Proteins c-kit ; Stomach ; Imatinib Mesylate

Neurilemoma is benign never-sheath tumor which has been described as painless mass and is usually discovered incidentally. It is the most common tumor of peripheral nerve origin and may arise in any nerve where Schwann cells occur. There are few domestic reports which were clinically evaluated in tens of cases of neurilemoma so far. We evaluated on the 56 cases of neurilemoma confined to the trunk and extremities, in the aspect of clinical characteristics, radiology, pathology, EMG, surgical treatment and postoperative results, who were surgically treated at the Department of Orthopedic Surgery of Seoul National University from 1984 to 1994. Among 56 patients, male were 29 and female were 27, and there was no sexual difference. The average age at surgical intervention was 46.4 years (16–83yrs) and 46.4% of patients were in the age of fourties and fifties. The anatomical locations of the tumors were as followed: upper extremities in 22(39%) cases, neck and supraclavicular area in 15(27%) cases, sacrum and lower extremities in 14(25%) cases and trunk in 5(9%) cases. Symptoms were palpable mass in 55 cases, local tenderness in 14, radiating pain in 11, pain in 10, paresthesia in 11, motor weakness in 2 cases. The average follow up period was 19.1 months(13–56 month). Median nerve was involved most frequently(14%), then ulnar nerve(11%). There was no cases which occurred in multiplicity or associated with neurofibromatosis. Marginal excision was done in 51 cases(91%), incisional biopsy only in 4 cases(7%), wide excision in 1 case. The size of the tumors in the longest axis was smaller than 2cm in 9 cases, between 2 and 4cm in 31 cases, between 4 and 6cm in 13 cases and more than 6cm in 3 cases. Malignant change or recurrence was not found in all cases.
Biopsy ; Extremities ; Female ; Follow-Up Studies ; Humans ; Lower Extremity ; Male ; Median Nerve ; Neck ; Neurilemmoma ; Neurofibromatoses ; Orthopedics ; Paresthesia ; Pathology ; Peripheral Nerves ; Recurrence ; Sacrum ; Schwann Cells ; Seoul ; Transcutaneous Electric Nerve Stimulation ; Upper Extremity

OBJECTIVETo study the clinicopathologic features, immunophenotype and ultrastructural features of sinonasal inflammatory myofibroblastic tumors (IMT).

METHODSThe clinical and histologic features of 5 cases of sinonasal IMT were reviewed. Immunohistochemical study for vimentin, MSA, SMA, calponin, h-caldesmon, desmin, ALK, fibronectin, CK, S-100 and Ki-67 was carried out. Ultrastructural examination was also performed in two of the cases.

RESULTSThe patients age ranged from 28 to 62 years (mean = 43 years). The male-to-female ratio was 2:3. The clinical presentation included nasal obstruction, nasal discharge, nasal bleeding, facial pain, facial swelling, toothache and tear overflow. All of the 5 patients suffered from disease relapses; and 4 of them had recurrences for more than 5 times. One patient had lymph node metastasis and 3 patients died of the disease. Histologically, the tumor cells were arranged in interlacing fascicles and sometimes haphazard in fashion. They were spindly in shape, cytoplasm eosinophilic with mild nuclear atypia and a low mitotic activity. The intervening stroma was myxoid in appearance accompanied by lymphocyte and plasma cell infiltration, abundant blood vessels and focal collagenized areas. In 3 of the recurrent cases, the tumor cells displayed increased nuclear atypia and mitotic activity (average about 5 to 6 per 10 high-power fields), accompanied by patchy necrosis, less inflammatory cell infiltration and focal sarcomatous changes. Immunohistochemical study showed that the tumor cells were diffusely positive for vimentin. SMA, MSA, calponin and fibronectin were variably expressed. Desmin was weakly positive in 1 case. The staining for h-caldesmon, ALK, S-100 and CK was negative. The Ki-67 proliferation index increased with tumor recurrences. Electron microscopy revealed abundant rough endoplasmic reticulum and dense body formation in the cytoplasm. There were an increased amount of collagen fibers in the stroma.

CONCLUSIONSIMT rarely occurs in nasal cavity and paranasal sinuses. The tumor is prone to local invasion and recurrences, with subsequent progression to frank malignancy and distant metastasis, resulting in high mortality and poor prognosis. Complete surgical resection remains the main modality of treatment.

Actins ; metabolism ; Adult ; Calcium-Binding Proteins ; metabolism ; Diagnosis, Differential ; Female ; Fibrosarcoma ; pathology ; Humans ; Ki-67 Antigen ; metabolism ; Lymphatic Metastasis ; Male ; Microfilament Proteins ; metabolism ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasms, Muscle Tissue ; metabolism ; pathology ; surgery ; ultrastructure ; Neurofibromatoses ; pathology ; Paranasal Sinus Neoplasms ; metabolism ; pathology ; surgery ; ultrastructure ; Vimentin ; metabolism