Anaplasia may be identified in a subset of tumors with a presumed pilocytic astrocytoma (PA) component or piloid features, which may be associated with aggressive behavior, but the biologic basis of this change remains unclear. Fifty-seven resections from 36 patients (23 M, 13 F, mean age 32 years, range 3-75) were included. A clinical diagnosis of NF1 was present in 8 (22%). Alternative lengthening of telomeres (ALT) was assessed by telomere-specific FISH and/or CISH. A combination of immunohistochemistry, DNA sequencing and FISH were used to study BRAF, ATRX, CDKN2A/p16, mutant IDH1 p.R132H and H3-K27M proteins. ALT was present in 25 (69%) cases and ATRX loss in 20 (57%), mostly in the expected association of ALT+/ATRX- (20/24, 83%) or ALT-/ATRX+ (11/11, 100%). BRAF duplication was present in 8 (of 26) (31%). H3-K27M was present in 5 of 32 (16%) cases, all with concurrent ATRX loss and ALT. ALT was also present in 9 (of 11) cases in the benign PA precursor, 7 of which also had ATRX loss in both the precursor and the anaplastic tumor. In a single pediatric case, ALT and ATRX loss developed in the anaplastic component only, and in another adult case, ALT was present in the PA-A component only, but ATRX was not tested. Features associated with worse prognosis included subtotal resection, adult vs. pediatric, presence of a PA precursor preceding a diagnosis of anaplasia, necrosis, presence of ALT and ATRX expression loss. ALT and ATRX loss, as well as alterations involving the MAPK pathway, are frequent in PA with anaplasia at the time of development of anaplasia or in their precursors. Additionally, a small subset of PA with anaplasia have H3-K27M mutations. These findings further support the concept that PA with anaplasia is a neoplasm with heterogeneous genetic features and alterations typical of both PA and diffuse gliomas.

Alveolar soft part sarcoma (ASPS) is a rare, malignant tumor of uncertain histogenesis that has no benign counterpart. In some cases, a structural rearrangement of chromosome 17 involving band q25 has been reported. The neoplasm occurs most frequently in female adolescents and young adults, where it arises predominantly in the extremities. In contrast, the most common sites of occurrence in infants and children are the orbit (41%) and the tongue (25%). The primary therapeutic option is a complete surgical excision. Because of the indolent growth and lack of pain associated with the mass, 20% of patients have metastases at the time of initial diagnosis. Median survival time reported for all sites of the body is 79 months. When ASPS presents in the tongue region, however, the patients involved are usually children and have a better prognosis than patients affected in the extremities. The utility of adjuvant chemotherapy or radiation therapy in children is open to question. Because metastases may occur after several decades, children with ASPS should be followed throughout adolescence and well into adulthood. Only 10 cases of ASPS occurring in the tongues of children younger than 5 years of age were indexed by MEDLINE between 1952 and 2006. Here, we describe the 1st case consistent with typical ASPS of the tongue in 15 years at our hospital. The patient is a 2-year-old girl who has been disease-free for 32 months.

Pulmonary complications in children with leukemia often display nonspecific clinical and radiologic manifestations that lead to a delay in diagnosis. The role of fiberoptic bronchoscopy (FOB) and the proper time for its performance are controversial. The aim of our study was to evaluate the frequency and nature of specific diagnoses revealed by FOB. Children with leukemia submitted to FOB because of suspicion of pulmonary involvement (mainly pneumonia) were retrospectively analyzed. A total of 33 FOB procedures performed in 31 patients (20 males) with an average age of 9.4 years (range, 3.5 to 15 y) were evaluated. Microorganisms isolated from 21 (63.6%) bronchoalveolar lavage samples were mainly fungi including Candida in 13 cases (39.4%) and Aspergillus in 3 cases (9.1%). Isolation rate in 10 procedures performed within the first 3 days was 90%. Tracheobronchitis was present in > 50% of patients, pulmonary hemorrhage was seen in 7 (21.0%) patients, and leukemic infiltration was demonstrated in 2 patients (6.1%), among other conditions visualized by FOB. Complications of FOB were minimal and transient. Our study suggests that FOB is a useful and safe procedure in patients with leukemia and pulmonary infiltrates. The earlier the FOB was performed, the higher the isolation rate of causative agents. In addition, this procedure allowed the identification of noninfectious airway comorbidities. Further studies in regard to this issue are warranted.