Cancer Pathology Pediatric

BACKGROUND: Hepatoblastoma is the most frequent pediatric liver cancer. The current treatments lead to 80% of survival rate at 5 years. In this study, we evaluated the clinical relevance of molecular features to identify patients at risk of chemoresistance, relapse and death of disease. METHODS: All the clinical data of 86 children with hepatoblastoma were retrospectively collected. Pathological slides were reviewed, tumor DNA sequencing (by whole exome, whole genome or target) and transcriptomic profiling with RNAseq or 300-genes panel were performed...

BACKGROUND: Mediastinal masses in children with cancer present unique challenges, including the risk of respiratory and hemodynamic compromise due to the complex anatomy of the mediastinum. Multidisciplinary communication is often a challenge in the management of these patients. After a series of patients with mediastinal masses were admitted to Riley Hospital for Children Pediatric Intensive Care Unit, the time from presentation to biopsy and pathology was greater than expected. We aimed to reduce the time to biopsy by 25% and demonstrate improved multidisciplinary communication within 6 months of protocol implementation for patients presenting to Riley Hospital for Children Emergency Department with an anterior mediastinal mass...

Malignant tumors of the head and neck are rare in children, but it is important to know these lesions and identify them early in order to have a good outcome for these patients. Benign lesions of the head and neck are much more frequent and have an excellent prognosis. For this reason, it is necessary to recognize the warning signs and symptoms and understand when to refer the patient to a reference center for the treatment of these pathologies. The clinical presentation of both benign and malignant lesions in children may be similar as usually, both categories have compressive effects...

PURPOSE: To determine whether percutaneous core needle biopsy (PCNB) is adequate for the diagnosis and full molecular characterization of newly diagnosed neuroblastoma. MATERIALS AND METHODS: Patients with newly diagnosed neuroblastoma who underwent PCNB in interventional radiology at a single center over a 5-year period were included. Pre-procedure imaging and procedure details were reviewed. Rates of diagnostic success and sufficiency for International Neuroblastoma Pathology Classification (INPC), risk stratification, and evaluation of genomic markers utilized in the Children's Oncology Group risk stratification, and status of the anaplastic lymphoma kinase (ALK) gene were assessed...

OBJECTIVES: Intestinal perforation during acute lymphoblastic leukemia (ALL) treatment in children is rare, but represents a severe complication with possible long-term consequences. In this study, we aim to provide an overview of the epidemiology and clinical characteristics of these patients; analyze surgical pathology findings for possible causes; and determine its impact on patients' therapy, nutritional status, and outcome. STUDY DESIGN: Historical chart review from January 2000 to October 2020 of children with ALL and intestinal perforation during therapy diagnosed at a single institution...

In 2002, heterozygous suppressor of fused variants (SUFU+/- ) in the germline were described to have a tumor suppressor role in the development of pediatric medulloblastoma (MB). Other neoplasms associated with pathologic germline SUFU+/- variants have also been described among patients with basal cell nevus syndrome (BCNS; BCNS is also known as Gorlin syndrome, nevoid basal cell carcinoma [BCC] syndrome or Gorlin-Goltz syndrome; OMIM 109400), an autosomal-dominant cancer predisposition syndrome. The phenotype of patients with germline SUFU+/- variants is very poorly characterized due to a paucity of large studies with long-term follow-up...

INTRODUCTION AND IMPORTANCE: A hydrocele is typically a non-cancerous condition that arises from the accumulation of fluid between the layers of the vaginal process. Diagnosis primarily involves a physical examination. In instances where the condition is mistaken for other pathological conditions, additional investigations may be undertaken. Surgical intervention is typically deferred until after the age of one year, unless the hydrocele is significantly large. CASE PRESENTATION: A case was presented of a 4-year-old boy who was referred to the hospital with a suspected deep inguinal hernia...

RATIONALE: Surgical lung biopsies are often required for the definitive diagnosis of non-malignant pediatric diffuse lung diseases, however there is a sparsity of literature on mortality after surgical lung biopsy in pediatric patients. OBJECTIVES: To determine the 30-day post-operative mortality rate after surgical lung biopsies for non-malignant lung disease in pediatric patients in Ontario, Canada and to identify risk factors associated with mortality. METHODS: We performed an observational cohort study using population-based health administrative data available from ICES in Ontario, Canada from 2000-2019...

A 43-year-old female presented with blood loss and persistent abdominal pain at 14 weeks of gestation. Ultrasound examination and subsequent magnetic resonance imaging (MRI) revealed bilateral multicystic uterine adnexa. Exploratory laparotomy was performed at 17 weeks of gestation and bilateral serous ovarian adenocarcinoma FIGO stage IIIC was diagnosed. Complete cytoreductive surgery (CRS) was not feasible at that moment. Nine days after the exploratory laparotomy, immature rupture of membranes and contractions occurred and she delivered a premature boy after 19 weeks of gestation...

BACKGROUND: Atypical teratoid/rhabdoid tumors (ATRT) are aggressive pediatric central nervous system malignancies that predominantly affect the brain and have poor survival outcomes. However, spinal ATRT is an uncommon subset of ATRT, and its clinical course and management are poorly understood. CASE: We describe a case of spinal ATRT in a previously healthy 5-year-old girl who initially presented with rapid-onset gait disturbance. Magnetic resonance imaging (MRI) revealed an extramedullary tumor at thoracic level 5 (T5) without bony destruction or metastasis...

BACKGROUND: HPVs are considered to have high-oncogenic risk. These genotypes have been proven to have a causal link to cancers, in pediatric and youth patients, with high rates of HPV presence in the tonsillar tissues. OBJECTIVE: A prospective case-control research for determining HPV 6/11 genotypes in tonsillar specimens of children who underwent operations in the otolaryngology departments of the Medical City Complex, Baghdad, Iraq, for their non-oncologic palatine and pharyngeal tonsillar hypertrophies...

Central nervous system (CNS) tumours in neonates are relatively rare and present differently when compared with those occurring later in childhood in terms of aetiology, clinical features, location, histology and prognosis. The clinical presentation is extremely variable. Even if the most frequent clinical sign is a macrocephaly, there are many other non-specific symptoms associated. The prognosis is usually poor with overall survival of less than 30%. Surgery continues to be the primary treatment for neonatal CNS tumours, aiming for a gross total resection, directly correlated with prognosis and the overall outcome...

UNLABELLED: Neuroblastoma (NB) accounts for 15% of all pediatric cancer fatalities (NB). Biomarkers that facilitate early NB detection are needed because by the time of diagnosis, over half of NBs had spread. MicroRNA-21(miR-21) and miR-155 are involved in cancer biology due to their immune modulation functions. Altered monocyte subset distribution is thought to be involved in a number of solid tumors due to its immunological role. We aimed to investigate the expression levels of miR-21 and miR-155 and their association with circulating monocytes subsets in NB and to evaluate if they correlate to the disease pathogenesis and outcome...

Picosecond infrared laser mass spectrometry (PIRL-MS) is shown, through a retrospective patient tissue study, to differentiate medulloblastoma cancers from pilocytic astrocytoma and two molecular subtypes of ependymoma (PF-EPN-A, ST-EPN-RELA) using laser-extracted lipids profiled with PIRL-MS in 10 s of sampling and analysis time. The average sensitivity and specificity values for this classification, taking genomic profiling data as standard, were 96.41 and 99.54%, and this classification used many molecular features resolvable in 10 s PIRL-MS spectra...

BACKGROUND: Completely necrotic Wilms tumor (CN-WT) following preoperative chemotherapy has been regarded as low-risk WT since the International Society of Paediatric Oncology (SIOP) 93-01 study, and patients have been treated with reduced postoperative therapy. The aim of the study was to evaluate whether the omission of adjuvant chemotherapy in patients with localized CN-WT stage I and radiotherapy in stage III was safe. PATIENTS AND METHODS: The retrospective observational study of outcomes of patients diagnosed with localized CN-WT on central pathology review and treated according to the SIOP 93-01 and SIOP-WT-2001 protocols (1993-2022)...

Congenital abnormalities in the development of the thyroglossal duct are a common pathology in the pediatric population. The exact frequency of hemiagenesis of the thyroid gland is not known because the condition is rarely manifested clinically and is almost always discovered incidentally. Papillary carcinoma of thyroglossal cysts is relatively uncommon, has a good prognosis if promptly detected and treated and occurs mainly in adults. The case we present here is an extremely rare occurrence: a patient with papillary thyroid carcinoma of the thyroglossal duct cyst and thyroglossal duct cyst carcinoma (TDCa)...

Most commonly diagnosed cancer pathologies in the pediatric population comprise leukemias and cancers of the nervous system. The percentage of cancer survivors increased from approximatively 50% to 80% thanks to improvements in medical treatments and the introduction of new chemotherapies. However, as a consequence, heart disease has become the main cause of death in the children due to the cardiotoxicity induced by chemotherapy treatments. The use of different cardiovascular biomarkers, complementing data obtained from electrocardiogram, echocardiography cardiac imaging, and evaluation of clinical symptoms, is considered a routine in clinical diagnosis, prognosis, risk stratification, and differential diagnosis...

Cancer stem cells are a subpopulation of tumor cells characterized by their ability to self-renew, induce tumors upon engraftment in animals and exhibit strong resistance to chemotherapy and radiotherapy. These cells exhibit numerous characteristics in common with embryonic stem cells, expressing some of their markers, typically absent in non-pathological adult differentiated cells. The aim of this study was to investigate the potential of conditioned media from cancer stem cells to modulate the fate of Leukemia Inhibitory Factor (LIF)-dependent murine embryonic stem cells (mESCs) as a way to obtain a direct readout of the secretome of cancer cells...

Pediatric brain and spinal cancers remain the leading cause of cancer-related death in children. Advancements in clinical decision-support in pediatric neuro-oncology utilizing the wealth of radiology imaging data collected through standard care, however, has significantly lagged other domains. Such data is ripe for use with predictive analytics such as artificial intelligence (AI) methods, which require large datasets. To address this unmet need, we provide a multi-institutional, large-scale pediatric dataset of 23,101 multi-parametric MRI exams acquired through routine care for 1,526 brain tumor patients, as part of the Children's Brain Tumor Network...

Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders that account for approximately 30% of pediatric bone marrow failure cases and are often associated with developmental abnormalities and cancer predisposition. We report the laboratory validation and clinical utility of a large custom-designed NGS panel, CHOP IBMFS panel, for the diagnosis of IBMFS in a large cohort of pediatric patients. This panel demonstrated excellent analytic accuracy with 100% sensitivity, ≥99...