Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

Background: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.

Methods: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries.

Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti-PD-1 Monotherapy: A Report from the International RRD Consortium.

Unlabelled: Immune checkpoint inhibition (ICI) is effective for replication-repair-deficient, high-grade gliomas (RRD-HGG). The clinical/biological impact of immune-directed approaches after failing ICI monotherapy is unknown. We performed an international study on 75 patients treated with anti-PD-1; 20 are progression free (median follow-up, 3.

Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.

Background: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ). In addition to colorectal, brain, and hematological malignancies, many additional premalignant and non-malignant features that can point toward the diagnosis of CMMRD have been reported. The report from the CMMRD consortium revealed that all children with CMMRD have café-au-lait macules (CALMs) but the number of CALMs does not reach > 5 in all CMMRD patients, which is one of the diagnostic criterions of NF1.

SIOP PODC-adapted treatment guidelines for craniopharyngioma in low- and middle-income settings.

Pediatric craniopharyngioma is a rare tumor with excellent survival but significant long-term morbidities due to the loco-regional tumor growth or secondary to its treatment. Visual impairment, panhypopituitarism, hypothalamic damage, and behavioral changes are among the main challenges. This tumor should be managed under the care of a multidisciplinary team to determine the optimum treatment within the available resources.

Immediate Response to Chemotherapy in an Adult Neuroblastoma Patient Presenting with Cord Compression.

We report a case of a 31-year-old female patient with high-risk neuroblastoma (NBL) who presented with a history of static back pain and bilateral lower limb weakness for almost a month. Her primary tumor was located in the right paraspinal region, causing spinal cord compression (SCC). Chemotherapy was administered with an immediate clinical improvement noted after 24 hours of starting treatment.

The incidence of brainstem primitive neuroectodermal tumors of childhood based on SEER data.

Purpose: Incidence of BS primitive neuroectodermal tumors (BS-PNET) in children is not reported to date. Our main objectives were to estimate the incidence and report the outcome of BS-PNET in children.

Methods: Data were collected using the Surveillance Epidemiology and End Results cancer registry.

Bithalamic gliomas may be molecularly distinct from their unilateral high-grade counterparts.

Bithalamic gliomas are rare cancers diagnosed based on poorly defined radiologic criteria. Infiltrative astrocytomas account for most cases. While some previous studies reported dismal outcomes for patients with bithalamic gliomas irrespective of therapy and histologic grade, others described better prognoses even without anticancer therapy.

Gliomatosis cerebri in children shares molecular characteristics with other pediatric gliomas.

Gliomatosis cerebri (GC), a rare and deadly CNS neoplasm characterized by involvement of at least three cerebral lobes, predominantly affects adults. While a few small series have reported its occurrence in children, little is known about the molecular characteristics of pediatric GC. We reviewed clinical, radiological, and histological features of pediatric patients with primary GC treated at our institution over 15 years.

Metastatic Low-Grade Gliomas in Children: 20 Years' Experience at St. Jude Children's Research Hospital.

Background: Patients with low-grade gliomas (LGG), which are the most common childhood brain tumors, have excellent long-term survival. Dissemination of LGG is rare. Robust data on the incidence, presentation, patterns of dissemination, disease behavior, outcome, and best-management approaches do not exist.

Molecular characteristics of pediatric high-grade gliomas.

High-grade gliomas (HGGs) are extremely lethal tumors. Survival has not changed significantly in the past decades. The only known prognostic factors in pediatric HGGs (pHGGs) are extent of resection and histologic grade.

Effective treatment of cerebral mucormycosis associated with brain surgery.

Isolated cerebral mucormycosis is rare. We describe a patient with a brain tumor and a surgically-related Rhizopus oryzae brain abscess. Her abscess was effectively treated with posaconazole, micafungin and colony-stimulating factor followed by posaconazole alone.

Urinary tract infection and indirect hyperbilirubinemia in newborns.

Background: Jaundice is a common problem during the neonatal period. About 60% of the full term and 80% of premature infants develop jaundice. It can be associated with serious illnesses such as Urinary tract infections.