Evidence Of Neurofibromatosis Type Research Articles

Malignant spindle cell tumor of the anal canal, what are the differential diagnoses?

Malignant peripheral nerve sheath tumor (MPNST) is an uncommon tumor. Here, we report a case of rectal MPNST. The patient was a 75 year old man with symptoms and signs of a mass protruded from anus. There was no evidence of neurofibromatosis type 1 in him or his family. Primary diagnosis was hemorrhoid. Biopsy was taken. The microscopic examination revealed spindle cells with large and hyperchromatic nuclei. Mitotic figures were numerous. Routine and ancillary techniques confirmed the diagnosis of MPNST. MPNST should be distinguished from more common lesions encountered at this anatomic site such as hemorrhoid, malignant melanoma, sarcomatoid carcinoma, and gastrointestinal stromal tumor.

Management of pediatric intracranial meningiomas: an analysis of 31 cases and review of literature

The purpose of this study is to understand the epidemiology, clinical features, behavior, and the prognostic factors that influence the outcome of intracranial meningiomas in children. Thirty-one patients with age less than 18 years who underwent surgery for intracranial meningiomas during the period of at 1988-2012 at Voluntary Health Services Hospital, Chennai, India were studied. These formed 3.7 % of the total 831 cases of intracranial meningiomas operated at the institute. The study group included 22 (71 %) males and 9 (29 %) females. The mean age of presentation was 15 years, with the youngest being 9 months old. Two (6 %) had evidence of neurofibromatosis type 2 (NF2). The most common symptoms at presentation were seizures in 11 (35.5 %), weakness of limbs in 11 (35.5 %), and raised intracranial pressure in 10 (32 %). Convexity meningiomas were seen in 16 (51 %) and skull base in 15(49 %). Multiple meningiomas was seen in two (6 %) of the patients and intraventricular location was found in one patient (3 %). Two (6 %) had evidence of NF2. Gross total excision was achieved in 26 (83 %) and subtotal excision in 5 (17 %). WHO grade I was found in 20 (64 %) and higher grade was seen in 11 (36 %). The mean follow-up was 46.2 months. Recurrence was seen in 20 patients (64 %). In patients with higher grade or with recurrence resurgery and radiotherapy was given. Three (9 %) had multiple recurrences. On a mean follow-up of 46.2 months, 25 patients (81 %) were neurologically intact, 5 (16 %) were having moderated disability, and 1 (3 %) patient died. Childhood meningiomas are uncommon lesions with a slight male predominance. They can have a varied clinical presentation. Higher grade is found more frequently compared with adults. Gross total resection is the goal and in higher grade meningiomas radiotherapy helps as a good adjuvant. Though the rate of recurrence is high, resurgery and radiotherapy gives a good outcome.

Pediatric meningiomas: a single-center experience with 15 consecutive cases and review of the literature

The goal of this study was to determine the epidemiology, clinical presentation, associated factors, pathological features, and treatment outcome of pediatric meningiomas in a single-center institution. Clinical data of 15 patients under 18 years of age operated on for meningiomas from January 1994 to December 2010 were reviewed. The study group included nine males and six females (mean age of 13 years at surgery). The most common symptoms at presentation were headaches in 6 out of 15 (40 %), raised intracranial pressure in 3 out of 15 (20 %), and seizures in 3 out of 15 (20 %). Sole operated tumors were found in 12 out of 15 (80 %), whose location is as follows: parasagittal in 4 out of 12 (33.3 %), 2 in the convexity (16.6 %), 2 at the skull base (16.6 %), and 4 in other sites (33.3 %). Six children presented with radiation-induced (RT) meningiomas and five had evidence of neurofibromatosis type 2 (NF2). Three patients had multiple meningiomas (all of them had NF2). Simpson's grade I excision was achieved in 12 out of 15 (80 %). On histopathology, 11 out of 15 (73.3 %) were grade I and 4 out of 15 (26.6 %) were grade II (all of them atypical). Five tumors (33.3 %) recurred, four of which had RT or NF2. During the mean follow-up period of 5 years, 12 out of 15 (80 %) had a good outcome (GOS=5). Childhood meningiomas are uncommon lesions with a slight male predominance. Absence of large series with long follow-up precludes any definite conclusions on the clinical course and outcome of these tumors. Associated factors (such as RT and NF2), location, and extent of excision appear to be more important than histopathological grade in predicting outcome.

Juvenile Myelomonocytic Leukemia Presenting With Features of Neonatal Hemophagocytic Lymphohistiocytosis and Cutaneous Juvenile Xanthogranulomata and Successfully Treated With Allogeneic Hemopoietic Stem Cell Transplant

Juvenile xanthogranuloma (JXG) is rarely associated with either hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML) and when in association with the latter there is usually neurofibromatosis type 1. We report a child who presented with JXG and HLH during the neonatal period and who subsequently developed JMML during early infancy in whom there is no evidence of neurofibromatosis type 1. The patient was refractory to standard HLH therapy but he is well and is now 42 months after mismatched unrelated donor hemopoietic stem cell transplant without evidence of HLH or JMML. His JXG lesions show involution, in keeping with the expected natural history of this disorder.

Pediatric primary pilocytic astrocytoma of the cerebellopontine angle: a case report

We describe a rare case of pediatric pilocytic astrocytoma presented as a right cerebellopontine angle (CPA) mass, completely separated from the brain stem and arising from the proximal VIII nerve portion. A 12-year-old boy, with no evidence of neurofibromatosis type 2, presented with progressive hearing loss at the right ear and headache. An initial enhanced magnetic resonance examination suggested the diagnosis of schwannoma. The tumor was resected by a suboccipital retrosigmoid approach. Our case seems to be the first report of a primary pediatric CPA pylocitic astrocytoma arising from the VIII nerve complex and presenting internal auditory canal enlargement. It represents the third reported case of a primary CPA pilocytic astrocytoma (the second pediatric case with the first arising from V nerve) and the eighth report of primary CPA glioma, overall. We discuss the clinical, neuroradiological, and intraoperative findings, and we review the different hypothesis about the origin of these rare tumors.

Isolated plexiform schwannoma of the hand

The plexiform schwannoma, a peripheral nerve sheath tumor, is a very rare entity. But dermatologists should be familiar with since they may be the first who make diagnosis possible by taking a deep biopsy. A 24-year-old male presented with multiple asymptomatic subcutaneous nodules of the palmar side of his right hand. Histologic investigations revealed a plexiform schwannoma with numerous Antoni-A areas. There was no evidence of neurofibromatosis type 1 or 2. Plexiform schwannoma of the hand is a rare nerve sheath tumor. In individual (symptomatic) cases hand surgery is an option that needs a critical indication. In every case histologic investigations are mandatory to confirm the diagnosis and not to overlook the malignant variant of this disease.

Trigeminal schwannomas: results of Gamma Knife surgery in 37 cases

Information on outcomes of Gamma Knife surgery (GKS) for patients harboring trigeminal schwannomas is limited because these tumors are rare. The authors evaluated tumor control and functional outcomes in patients who underwent GKS for trigeminal schwannomas to clarify the efficacy of this treatment. Forty-two patients with trigeminal schwannomas but no evidence of neurofibromatosis Type 2 were treated with GKS at Komaki City Hospital between November 1991 and December 2003. Of these, 37 patients were assessed. The mean tumor volume in these patients was 10 cm3. The mean maximum radiation dose directed to the tumor was 27.9 Gy and the mean dose directed to the tumor margin was 14.2 Gy. The mean follow-up period was 54 months. In four patients (11%) there was complete tumor remission; in 20 (54%) there was partial tumor remission; in eight (22%) the disease remained stable; and in five (14%) the tumor enlarged or uncontrollable facial pain developed with radiation-induced edema requiring resection. The actuarial 5- and 10-year tumor control rates were both 84%. With respect to functional outcomes, 40% of patients noted an improvement in their symptoms, and one patient experienced new symptoms despite good tumor control. Gamma Knife surgery was a safe and effective treatment for a select group of patients harboring trigeminal schwannomas. Large tumors that compress the brainstem and cause deviation of the fourth ventricle should first be removed surgically and any remnant should be treated by GKS.

Visual pathway glioma in children treated with chemotherapy

Visual pathway gliomas occur predominantly in young children. Chemotherapy has been increasingly used as a first-line treatment because of the complications caused by radiotherapy and surgery. Nine children between 6 months and 9 years (median age of 4.8 years) were treated with vincristine and carboplatin according to the SIOP (Société Internationale d'Oncologie Pédiatrique) low-grade glioma 1996 protocol. Five patients had evidence of neurofibromatosis type 1.Magnetic resonance imaging (MRI) and ophthalmological assessment were performed during and after treatment. There was a positive response in all children (100%). Three patients developed progressive disease between 8 and 12 months after ceasing treatment. One of them, being only 2.5 years old, was again treated by chemotherapy with partial response on MRI. Patients with neurofibromatosis type 1 never developed progressive disease. Our data suggest that chemotherapy is an effective treatment option in young children with visual pathway gliomas. MRI is an important means of monitoring the tumour response provided that a rigid imaging protocol is used to detect the early tumoral changes.

Immediate neurological deterioration after gamma knife radiosurgery for acoustic neuroma

✓ The authors describe acute deterioration in facial and acoustic neuropathies following radiosurgery for acoustic neuromas. In May 1995, a 26-year-old man, who had no evidence of neurofibromatosis Type 2, was treated with gamma knife radiosurgery (GKS; maximum dose 20 Gy and margin dose 14 Gy) for a right-sided intracanalicular acoustic tumor. Two days after the treatment, he developed headache, vomiting, right-sided facial weakness, tinnitus, and right hearing loss. There was a deterioration of facial nerve function and hearing function from pretreatment values. The facial function worsened from House—Brackmann Grade 1 to 3. Hearing deteriorated from Grade 1 to 5. Magnetic resonance (MR) images, obtained at the same time revealed an obvious decrease in contrast enhancement of the tumor without any change in tumor size or peritumoral edema. Facial nerve function improved gradually and increased to House—Brackmann Grade 2 by 8 months post-GKS. The tumor has been unchanged in size for 5 years, and facial nerve function has also been maintained at Grade 2 with unchanged deafness. This is the first detailed report of immediate facial neuropathy after GKS for acoustic neuroma and MR imaging revealing early possibly toxic changes. Potential explanations for this phenomenon are presented.