Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a meanmore » age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.« less

https://zenodo.org/record/1235524/files/article.pdf

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

PURPOSE: To determine the antitumor efficacy and safety profile of temozolomide in patients with malignant astrocytoma at first relapse. PATIENTS AND METHODS: This open-label, multicenter, phase II trial enrolled 162 patients (intent-to-treat [ITT] population). After central histologic review, 111 patients were confirmed to have had an anaplastic astrocytoma (AA) or anaplastic mixed oligoastrocytoma. Chemotherapy-naive patients were treated with temozolomide 200 mg/m2/d. Patients previously treated with chemotherapy received temozolomide 150 mg/m2/d; the dose could be increased to 200 mg/m2/d in the absence of grade 3/4 toxicity. Therapy was administered orally on the first 5 days of a 28-day cycle. RESULTS: Progression-free survival (PFS) at 6 months, the primary protocol end point, was 46% (95% confidence interval, 38% to 54%). The median PFS was 5.4 months, and PFS at 12 months was 24%. The median overall survival was 13.6 months, and the 6- and 12-month survival rates were 75% and 56%, respectively. T...

/pdf/multicenter-phase-ii-trial-of-temozolomide-in-patients-with-5b7enwc5cy.pdf

Multicenter Phase II Trial of Temozolomide in Patients With Anaplastic Astrocytoma or Anaplastic Oligoastrocytoma at First Relapse

Meningiomas are the most frequently reported primary intracranial neoplasms, accounting for approximately 25% of all such lesions diagnosed in the United States. Few studies have examined the risk factors associated with a diagnosis of meningioma with two categories of exposure, hormones (both endogenous and exogenous) and radiation, most strongly associated with meningioma risk. Limited data are also available on long-term outcomes for meningioma patients, although it is clear that the disease is associated with significant morbidity and mortality. Recent legislation passed in the United States (The Benign Brain Tumor Cancer Registries Amendment Act [H.R. 5204]) mandates registration of benign brain tumors such as meningioma. This will increase the focus on this disease over the coming years as well as likely increase the reported prevalence of the disease. The increased emphasis on research dedicated to the study of brain tumors coupled with the advent of new tools in genetic and molecular epidemiology make the current era an ideal time to advance knowledge for intracranial meningioma. This review highlights current knowledge of meningioma epidemiology and new directions for research efforts in this field.

Epidemiology of intracranial meningioma.

Multicenter phase II trial of temozolomide in patients with glioblastoma multiforme at first relapse

The frequency of meningiomas has been the topic of relatively few reports. Hospital-based brain tumor series indicate that the incidence is approximately 20% of all intracranial tumors; population-based studies indicate an overall incidence of 2.3/100,000. Although intracranial tumors as a whole show a higher prevalence in males than in females, meningiomas have a 2: 1 female-to-male ratio. Between Caucasians and Africans, African-Americans, and Asians, certain differences also have been noted. Meningiomas in children are rare and differ from those in adults and other childhood tumors; they are even more rare in infants. Several features indicating etiologic factors have been identified, among which are ionizing radiation, head injury, hormones, and other receptor binding sites, genetic factors, and viruses. The most common source of exposure of the head to ionizing radiation is dental radiographic examination. Since 1922, head trauma has been considered a possible risk factor, but recent large studies do not support this link. Several factors have prompted studies of estrogens and progestogens as risk factors for meningiomas. Other studies have sought to determine if certain individuals have an inherited predisposition for developing a meningioma and/or if viruses, which may act alone or with other mutagens, figure into the formation of a meningioma. The most promising studies are those of cytogenetics, and future elucidation of factors associated with the loss of one copy of chromosome 22, another phenomenon that has been identified in meningiomas, may lead to screening tests and gene therapy.

Epidemiology and etiology of intracranial meningiomas: A review

Although meningiomas are known to be induced by low doses of cranial irradiation, such as those given to treat tinea capitis, little experience has been reported on the induction of meningiomas by high-dose cranial irradiation. The authors describe a series of 10 patients with meningiomas and a previous history of high-dose radiation therapy, usually given for a primary brain tumor. Of the 10 patients, eight were female, three had multiple meningiomas, and the majority had other stigmata of previous radiation therapy. Eight meningiomas were examined pathologically and one-half were classified as either aggressive or atypical, or were noted to have a high bromodeoxyuridine labeling index. The average time from radiation therapy to diagnosis of a meningioma was 24 years (range 5 to 40 years), a shorter interval than that previously reported for meningiomas induced by lower doses of irradiation. Within this series, patient age at irradiation was significantly correlated with tumor latency; individuals who were younger at the time of radiation therapy had a shorter time to meningioma formation. The latency of meningioma formation is therefore influenced by both the radiation dose and the age of the patient at irradiation.

Meningiomas induced by high-dose cranial irradiation

Thirty-two patients with recurrent glioma who had previously received radiation therapy and chemotherapy with nitrosoureas were treated with intravenous carboplatin every 3 weeks, starting at a dose of 350 mg/m2, with a dose escalation of 25 mg/m2 every 6 weeks until a level 4 hematologic toxicity was reached. Of the 28 patients who could be evaluated for a response, 50% demonstrated a response or had stabilization of their disease after two infusions of carboplatin. Their median time to tumor progression and median duration of survival were 19 weeks and 38 weeks. Thrombocytopenia was the major toxicity and was severe in one-third of the patients. No neurologic or renal toxicities were noted. Carboplatin has demonstrated activity against recurrent gliomas in patients who have already had extensive chemotherapy. Increasing the dose of carboplatin may improve the rate of response and the duration of progression-free survival in patients with recurrent glioma.

A phase II study of intravenous carboplatin for the treatment of recurrent gliomas

In a Phase II trial, 63 evaluable patients with recurrent glioma received i.v. infusions of carboplatin every 3 weeks beginning at a dose of 400 mg/m 2 . The dose was increased by 50 mg/m 2 at each subsequent infusion until the maximum tolerated dose was reached, as defined by a platelet count <25,000/mm 3 or an absolute neutrophil count (ANC) <500/mm 3 . Treatment was then resumed at the previous dose level and continued until tumor progression occurred. There were 43 men and 20 women studied (mean age, 41 years ; range, 6 months to 70.6 years). The combined response and stabilization rate was 29% for 31 patients with glioblastoma and 71.9% for 32 patients with other tumors ; median time to tumor progression was 8.2 and 20.3 weeks and median survival was 25.9 and 58.3 weeks, respectively. Twenty patients had level 4 platelet toxicity and nine had level 4 ANC toxicity. Most tumors progressed before the maximum tolerated dose was reached. These results were not better than those from a previous trial of carboplatin at an initial dose of 350 mg/m 2 , which was escalated by 25 mg/m 2 after every two infusions. Therefore, an optimal dosing schedule was not achieved in this trial.

Intravenous carboplatin for recurrent gliomas. A dose-escalating phase II trial.

Late Manifestations of Esthesioneuroblastomas in the Central Nervous System

Two patients with esthesioneuroblastomas that disseminated in the central nervous system (CNS) and elsewhere are reported. The latest recurrences in the CNS were 19 years after the diagnosis in patient and 9 years after the diagnosis in the other. Because the treatment of patients with such late recurrences is complicated by previous surgical procedures and radiation therapy, we review therapeutic options for these patients. The literature has not previously stressed the occurrence of late metastases, including those to the CNS, after prolonged disease-free intervals.

Late manifestations of esthesioneuroblastomas in the central nervous system: report of two cases.

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