A5091844713- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Neurofibromatosis and Schwannoma Cases
- Neuroendocrine Tumor Research Advances
- Ovarian cancer diagnosis and treatment
- Urinary and Genital Oncology Studies
- Skin and Cellular Biology Research
- Cancer therapeutics and mechanisms
- Congenital Diaphragmatic Hernia Studies
- Soft tissue tumor case studies
- Neonatal Respiratory Health Research
- Gastrointestinal disorders and treatments
- Peptidase Inhibition and Analysis
- Pregnancy and preeclampsia studies
- IgG4-Related and Inflammatory Diseases
- Testicular diseases and treatments
- Cancer and Skin Lesions
- Sinusitis and nasal conditions
- Intestinal Malrotation and Obstruction Disorders
- Dermatological and COVID-19 studies
- Breast Lesions and Carcinomas
- Histiocytic Disorders and Treatments
- Berry genetics and cultivation research
- Gestational Trophoblastic Disease Studies
- Immunodeficiency and Autoimmune Disorders
Bambino Gesù Children's Hospital
2020-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2024
Boston Children's Hospital
2024
Acral chilblain-like lesions are being increasingly reported during COVID-19 pandemic. However, only few patients proved positivity for SARS-CoV-2 infection. The relationship between this skin manifestation and infection has not been clarified yet.To thoroughly characterize a prospective group of with to investigate the possible infection.Following informed consent, underwent (i) clinical evaluation, (ii) RT-PCR serology testing SARS-CoV-2, (iii) digital videocapillaroscopy finger toe...
Abstract Background Epidermolysis bullosa (EB) comprises a heterogeneous group of skin fragility disorders, classified in four major types based on cleavage level, i.e. EB simplex (EBS), junctional (JEB), dystrophic (DEB), Kindler EB, and more than 30 subtypes defined by the combination laboratory clinical data, including disease course. Objectives Our aims were to address whether, age genomics, electron microscopy (TEM) has still role diagnosing whether genotype per se may be sufficient...
The increased availability of genetic technologies has significantly improved the detection novel germline variants conferring a predisposition to tumor development in patients with malignant disease. identification uncertain significance (VUS) represents challenge for clinician, leading difficulties decision-making regarding medical management, surveillance program, and counseling. Moreover, it can generate confusion anxiety their family members. Herein, we report 5-year-old girl carrying...
Ewing Sarcomas (EWS, OMIM # 612219) presents a major challenge in pediatric oncology due to its aggressive nature and poor prognosis, particularly metastatic cases. Genetic fusions involving the EWSR1 gene ETS family transcription factors are common EWS, though other rarer have also been identified. Current standard techniques like immunohistochemistry failed fully characterize immune tumor microenvironment of hindering insights into development treatment strategies. Recent efforts apply...
Burkitt's lymphoma (BL) is defined as a highly invasive B-cell lymphoma, usually characterized by an excellent prognosis, more than 90% of children and adolescents being cured with dose-intensive multiagent chemotherapy. Primary ovarian localization without involvement other organs rare manifestation BL, especially in pediatric population. Symptoms at diagnosis are similar to lesions differential may be challenging for clinicians. A 12-year-old girl was referred our institution abdominal...
Abstract Malignant epithelioid soft tissue tumors encompass a wide spectrum of lesions. Among them, Epithelioid Peripheral Nerve Sheath Tumors (MPNST) constitute distinct subgroup, accounting for <5% all MPNST. MPNST are infrequently associated with neurofibromatosis type 1, occasionally arise in schwannoma and show diffuse S100 CD34 expression, often combined INI‐1 loss. However, the molecular mechanisms underlying tumorigenesis remain largely unknown. We describe case 10‐year‐old girl...
Abstract The prognosis of relapsed/refractory (R/R) neuroblastoma (NB) is dismal, calling for new therapeutic strategies. Venetoclax (VEN) a highly selective, potent, orally bioavailable, BCL-2 inhibitor small-molecule that showed synergistic effect with cyclophosphamide and topotecan (Cy-Topo) in murine NB models. Our aim was to evaluate the feasibility VEN plus Cy-Topo children R/R NB. Four patients, who had previously failed > 3 lines treatment, were treated based on 28-day schedule an...
Uterine leiomyomas are rare in the pediatric population with less than 20 cases adolescences reported literature. Furthermore, these masses represent a common presentation of gynecologic tumors increasing age. We report case 14-year-old female who presented abdominal pain and girth. Workup ultrasound, CT MRI demonstrated large pelvic mass. Complete resection by median laparotomy was performed. The mass weighed 5,596 g 29.5 cm × 27 19 cm; pathological examination confirmed hypothesis...
Inflammatory myofibroblastic tumor (IMT) is a rare disease that mainly involves the lung and abdomen with an intermediate clinical course but recurrence rate between 15–30%. Radical surgery represents gold standard of treatment, while chemotherapy radiotherapy are considered for unresectable lesions. The identification ALK translocations in IMT opened option use target therapies. Indeed, inhibitors have changed treatment approach aggressive lesions, improving prognosis. Intraluminal...
Neuroblastic tumors (NTs) represent the most common extracranial neoplasm occurring in childhood. Although ganglioneuroblastoma intermixed (GNBI) and ganglioneuroma (GN) are classified as very low-risk tumors, neuroblastoma (NB) ganglioneuroblastoma-nodular (GNBN) may a serious risk to survival. Unfortunately, areas of GNBI GNBN can coexist same mass, leading incorrect staging when only biopsy is performed. Herein, we describe case multifocal NT (thoracic abdominal localization) 4-year-old...
Inflammatory myofibroblastic tumor (IMT) is a rare disease that mainly involves the lung and abdomen with an intermediate clinical course but recurrence rate between 15-30%. Radical surgery represents golden standard of treatment, while chemotherapy radiotherapy are considered for unresectable lesions. The identification ALK translocations in IMT opened option use target therapies1. Indeed, inhibitors have changed treatment approach aggressive lesions, improving prognosis. Intraluminal upper...
Background and aims Patients affected by metastatic germ cell tumors may occasionally experience enlargement of lesions with concurrent normalization tumor markers after chemotherapy. This phenomenon is described as Growing Teratoma Syndrome (GTS). The aim the present study to assess prevalence GTS in pediatric population its implications terms surgical outcome. Methods clinical notes patients diagnosed stage III IV malignant from January 2010 until December 2020 at our Institution were...
Abstract Introduction Patients affected by metastatic germ cell tumors may occasionally experience enlargement of masses with concurrent normalization tumor markers during or after chemotherapy. This phenomenon is described as growing teratoma syndrome (GTS). The aim the pre sent study to assess prevalence GTS in pediatric population and its implications terms surgical outcome. methods clinical notes patients diagnosed stage III IV malignant from January 2010 until December 2020 at our...
Objectives Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign rhabdomyomatous including seven mesenchymal hamartomas, four fetal rhabdomyomas, one triton tumor, analyzing myogenic markers as well clinicopathologic molecular features. A review was also performed an emphasis on marker expression correlation Methods Results Cases obtained from three tertiary hospitals were...
Background: Neuroblastoma is the most common solid extracranial tumor in children. Patients affected by neuroblastoma are stratified into low, intermediate, and high risk terms of event-free overall survival. Some high-risk patients have an additional acute hemorrhagic complications during induction chemotherapy. Aim: To find easily rapidly assessed parameters that help clinicians identify those who complications. Methods: The clinical notes diagnosed with from January 2013 until February...
Background Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which reported in 6% children PCD. The forms PCD associated the variants GAS8 gene identified so far seem to be linked recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus. Case presentation We report case an 11-year-old girl otitis media, productive cough, homozygosity for novel nonsense mutation GAS8. Conclusion Children...