Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. Chromosomal aneuploidies, such as Klinefelter and Down syndromes, are associated with IGCTs, but no familial germline tumor syndromes are currently known.

Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas.

Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection. However, surgery carries several risks and a proportion of PN are considered inoperable.

Outcomes of Infants and Young Children With Relapsed Medulloblastoma After Initial Craniospinal Irradiation-Sparing Approaches: An International Cohort Study.

Purpose: Infant and young childhood medulloblastoma (iMB) is usually treated without craniospinal irradiation (CSI) to avoid neurocognitive late effects. Unfortunately, many children relapse. The purpose of this study was to assess salvage strategies and prognostic features of patients with iMB who relapse after CSI-sparing therapy.

Clinical Trial Enrollment is Associated With Improved Follow-up Rates Among Survivors of Childhood Cancer.

Fortunately >80% of children diagnosed with cancer become long-term survivors; however, this population is at a significantly increased risk of morbidity and mortality as a result of their previous cancer therapy, and long-term follow-up (LTFU) is critical. Multiple barriers to receiving adequate LTFU care have been studied. We investigated whether lack of enrollment in a therapeutic clinical trial may be a barrier to receiving LTFU care.

Concomitant Use of Panobinostat and Reirradiation in Progressive DIPG: Report of 2 Cases.

Diffuse intrinsic pontine glioma (DIPG) remains a devastating disease. Panobinostat has been shown to have therapeutic efficacy both in vitro and in DIPG orthotopic xenograft models; however, clinical data in patients with DIPG are lacking. We present 2 cases of DIPG, who were treated with panobinostat at 22 to 25 mg/m/dose, 3 times weekly for 2 weeks in 3-week cycles and concomitant reirradiation after disease progression.

Binding of Released Bim to Mcl-1 is a Mechanism of Intrinsic Resistance to ABT-199 which can be Overcome by Combination with Daunorubicin or Cytarabine in AML Cells.

Purpose: To investigate the molecular mechanism underlying intrinsic resistance to ABT-199.

Experimental Design: Western blots and real-time RT-PCR were used to determine levels of Mcl-1 after ABT-199 treatment alone or in combination with cytarabine or daunorubicin. Immunoprecipitation of Bim and Mcl-1 were used to determine the effect of ABT-199 treatment on their interactions with Bcl-2 family members.

Diffuse intrinsic pontine glioma biopsy: a single institution experience.

Tumor biopsy is rarely performed in diffuse intrinsic pontine glioma (DIPG) due to the presumed risk of surgical complications, although data on the surgery related morbidity of DIPG biopsy is sparse. We performed a retrospective review on 22 consecutive cases of DIPG diagnosed from 2002 to 2012 at Children's Hospital of Michigan, 15 of which underwent biopsy. Transient new or worsening neurological deficits were observed in three of 15 cases following surgery.

Inadvertent high-dose therapy with temozolomide in a child with recurrent pontine glioma followed by a rapid clinical response but deteriorated after substitution with low-dose therapy.

We present a case of inadvertent high-dose therapy with temozolomide in a child with recurrent diffuse intrinsic pontine glioma followed by a rapid clinical response. The patient was a 7-year-old boy who initially presented with a history of left facial palsy, double vision, headache, and ataxia. His symptoms were completely resolved following radiotherapy but recurred 3 months after.

NUT midline carcinoma mimicking tonsillitis in an eight-year-old girl.

We review a unique case of NUT midline carcinoma that presented in a young girl with an initial diagnosis of tonsillar abscess. We stress the importance of assaying poorly differentiated carcinomas in young patients for the t(15;19) translocation. Our patient presented with tonsillar enlargement and cervical lymphadenopathy mimicking acute tonsillitis.

Resistance of stem-like cells from neuroblastoma cell lines to commonly used chemotherapeutic agents.

Background: Cancer stem cell theory suggests that the presence of tumor initiating stem-like cells in cancers may be responsible for cancer progression and relapse. CD133 cell surface maker expression has been used to identify stem-like cells in cancer cell lines. Our goal was to identify such cells in neuroblastoma cell lines and to study the cytotoxicity of common anticancer drugs for those cells.

Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia.

We report a case of concurrent type 2B von Willebrand disease (VWD) and immune thrombocytopenia (ITP). The patient had characteristic loss of von Willebrand factor (VWF) high molecular weight multimers (HMWM) but a normal platelet count in the initial 8 years after diagnosis of type 2B VWD. When he developed severe thrombocytopenia, however, both his VWD indices and VWF HMWM normalized.