A case report of hepatic inflammatory myofibroblastic tumor in a pediatric patient: diagnostic challenges and management strategies.

Purpose: The aim of this study is to present a case of inflammatory myofibroblastic tumor (IMT) of the liver in a 4-year-old girl. We will discuss the diagnostic challenges, the role of the radiologist in differential diagnosis, treatment modalities, and clinical outcomes.

Methods: A case report of a 4-year-old girl with IMT of the liver is presented.

Therapeutic modulation of ROCK overcomes metabolic adaptation of cancer cells to OXPHOS inhibition and drives synergistic anti-tumor activity.

Genomic studies have identified frequent mutations in subunits of the SWI/SNF chromatin remodeling complex including and in non-small cell lung cancer. Previously, we and others have identified that -mutant lung cancers are highly dependent on oxidative phosphorylation (OXPHOS). Despite initial excitements, therapeutics targeting metabolic pathways such as OXPHOS have largely been disappointing due to rapid adaptation of cancer cells to inhibition of single metabolic enzymes or pathways, suggesting novel combination strategies to overcome adaptive responses are urgently needed.

Biliary atresia in a 3-month-old infant (case report).

Biliary atresia (BA) is a congenital disease that occurs when extrahepatic bile ducts are either absent or deficient, resulting in liver fibrosis, portal hypertension, and eventually cirrhosis. It is the most common cause of persistent obstructive jaundice in newborns lasting more than two weeks is this condition. Abdominal ultrasound (US) is the primary imaging technique used to diagnose BA, while computed tomography (CT) is reserved for more complex cases.

Ultrasound features of cutaneous myiasis: a rare case in a child.

Cutaneous myiasis is an infestation of the skin with larvae of some dipteran species. Among humans, Dermatobia hominis is the most frequently encountered dipteran responsible for cutaneous myiasis. This insect is endemic to tropical and subtropical regions, consequently, individuals travelling from non-endemic areas are most susceptible to infection due to a lack of prior exposure.

Atypical clinical and sonographic manifestations of lymphadenopathy in a child with cat-scratch disease: A case report.

Cat-scratch disease is a well-known infection in childhood. It usually presents as tender lymphadenopathy and should be included in the differential diagnosis of any lymphadenopathy syndrome. An history of exposure to cats supports the suspect and a positive serologic test to Bartonella henselae confirms the diagnosis.

Testicular juvenile granulosa cell tumor: a case report.

The Testicular Juvenile Granulosa Cell Tumor (JGCT) is a rare testicular neoplasm that appears in the first months of life as a painless testicular mass. Following an accurate radiological ultrasound diagnosis, through which the cystic appearance of the lesion is observed, and histological confirmation, showing follicular growth pattern and an immunoreactivity for inhibin, the treatment process involves, when feasible, conservative surgery. We present the case of a 2-months old infant with a bilateral JGCT of the testis and we review the classical findings of the patology.

Congenital tibial pseudarthrosis: A challenge in pediatric radiology.

Congenital pseudarthrosis of the tibia (CPT) is a rare disorder affecting the skeletal system in pediatric population with an estimated incidence of 1:140,000 to 1:250,000 newborns. It is characterized by deformity of the tibia, including anterolateral bowing of the bone diaphysis and/or narrowing of the medullary canal, leading to instability or fracture. CPT can be either idiopathic or associated with underlying conditions such as type 1 neurofibromatosis (NF1), fibrous dysplasia, or Campanacci's osteofibrous dysplasia.

Qualitative and quantitative characteristics of CEUS for renal cell carcinoma and angiomyolipoma: a narrative review.

Incidental findings of renal masses are increasing. However, a substantial portion of surgically treated renal masses turn out to be benign on histopathological examination. Thus, there is a clear need for improved pre-surgical assessment to minimize unnecessary invasive procedures.

Leiomyosarcoma of the inferior vena cava.

Inferior vena cava leiomyosarcoma is a rare malignant mesenchymal tumor that originates from the smooth muscle cells of the venous media and is more frequent in females in the V-VI decade of life. Due to scarce and specific symptoms, diagnosis is not simple, and often metastases to the liver, lungs, and/or lymph nodes are already present. A 44-year-old male patient arrives at our institution presenting diffuse abdominal pain and a sense of weight associated with lumbar pain.

Liposarcoma of the spermatic cord: The state of art and our experience.

Liposarcoma of the spermatic cord is a malignant neoformation so rare that less than 200 cases are reported in the world. It is a tumor that originates from adipose tissue and when it is found in the spermatic cord it can deceptively simulate an inguinal hernia and not be easily identified. The present work describes the case of a 37-year-old man with liposarcoma of the spermatic cord who arrives at our institution with painless swelling of the left testicle.

Interferon signaling promotes tolerance to chromosomal instability during metastatic evolution in renal cancer.

Molecular routes to metastatic dissemination are critical determinants of aggressive cancers. Through in vivo CRISPR-Cas9 genome editing, we generated somatic mosaic genetically engineered models that faithfully recapitulate metastatic renal tumors. Disruption of 9p21 locus is an evolutionary driver to systemic disease through the rapid acquisition of complex karyotypes in cancer cells.

SMARCB1 regulates the hypoxic stress response in sickle cell trait.

Renal medullary carcinoma (RMC) is an aggressive kidney cancer that almost exclusively develops in individuals with sickle cell trait (SCT) and is always characterized by loss of the tumor suppressor . Because renal ischemia induced by red blood cell sickling exacerbates chronic renal medullary hypoxia in vivo, we investigated whether the loss of SMARCB1 confers a survival advantage under the setting of SCT. Hypoxic stress, which naturally occurs within the renal medulla, is elevated under the setting of SCT.

Early diagnosis of Meigs syndrome in children A case report and a review of the literature.

Meigs syndrome is a rare disease defined by the coexistence of benign ovarian neoplasm, ascites and hydrothorax, which mainly affects women over the age of 30. This clinical condition refers only to cases in which the ovarian neoformation is a fibroid, a thecoma, a granulosa cell tumor or a Brenner tumor with disappearance of symptoms and effusions after removal of the neoplasm. Meigs syndrome is most frequently characterized by the presence of an ovarian fibroid, which in childhood is very rare and not commonly associated with the disease.

Diagnostic Performance of Contrast-Enhanced Ultrasound in the Evaluation of Small Renal Masses: A Systematic Review and Meta-Analysis.

Ultrasound (US) is a highly sensitive imaging tool in the detection of renal masses. However, the detection rate of small renal masses (SRMs) (<4 cm) is still limited. In this scenario, contrast-enhanced ultrasound (CEUS) is a relatively novel, but increasingly utilized, diagnostic modality which aims to increase the overall diagnostic ability in the identification of SRMs.

Integrated imaging of systemic Langerhans cell histiocytosis in an infant.

Langerhans cell histiocytosis (LCH) is a myeloid neoplasm characterized by a clonal proliferation of CD1a+/CD207+ dendritic cells. Although individuals of any age can be affected, the disease is most common in infants younger than 5 years of age, especially males. A wide range of manifestations, from asymptomatic to aggressive, have been described, along with multiorgan involvement.

Giant malignant sacrococcygeal germ cell tumor in a newborn: A rare case report.

Malignant germ cell tumors constitute about 3%-4% of all neoplasms occurring before the age of 15. They arise in the ovaries, the testes, and in several other locations, including the lower back, the chest, the brain, and the abdomen. In infants and young children, the sacrococcygeal region is the most common site for extragonadal germ cell tumors, and teratomas account for the vast majority of sacrococcygeal germ cell tumors.

A rare case of bilateral testicular metastasis from ileocecal NET: multiparametric US detection.

Testicular metastasis are rare findings and bilateral metastasis of testes are extremely rare. Here we are describing for the first time a case of bilateral testicular metastasis in a patient with a known ileocecal valve NET using an in-depth ultra-sound studying including microvascular flow imaging (MV-flow), ultra-sound new technique, able to detect small vessel slow-signal.

Pneumatosis cystoides intestinalis, a rare case in a pediatric patient following allogeneic hematopoietic stem cell transplantation: CT findings and literature review.

Pneumatosis cystoides intestinalis (PCI) is a rare condition characterized by the presence of gas-filled cysts in the subserosa or submucosa of the bowel wall. It is associated with various disorders including chronic obstructive pulmonary diseases, autoimmune disorders, and organ transplantation. PCI has also been observed following Hematopoietic Stem Cell Transplantation (HSCT), associated with chemotherapy, acute Graft versus Host Disease (GvHD), immunosuppression, and infections.

Synthetic Lethality Screening Highlights Colorectal Cancer Vulnerability to Concomitant Blockade of NEDD8 and EGFR Pathways.

Colorectal cancer (CRC) is a heterogeneous disease showing significant variability in clinical aggressiveness. Primary and acquired resistance limits the efficacy of available treatments, and identification of effective drug combinations is needed to further improve patients' outcomes. We previously found that the NEDD8-activating enzyme inhibitor pevonedistat induced tumor stabilization in preclinical models of poorly differentiated, clinically aggressive CRC resistant to available therapies.

Targeting CDK4 overcomes EMT-mediated tumor heterogeneity and therapeutic resistance in KRAS-mutant lung cancer.

Lack of sustained response to therapeutic agents in patients with KRAS-mutant lung cancer poses a major challenge and arises partly due to intratumor heterogeneity that defines phenotypically distinct tumor subpopulations. To attain better therapeutic outcomes, it is important to understand the differential therapeutic sensitivities of tumor cell subsets. Epithelial-mesenchymal transition is a biological phenomenon that can alter the state of cells along a phenotypic spectrum and cause transcriptional rewiring to produce distinct tumor cell subpopulations.

Mediastinal thymoma: A difficult diagnosis in the pediatric age.

Thymoma is a rare neoplasm of the anterior mediastinum, which originates from the epithelium of the thymic gland; it occurs mainly in middle-aged adults and is much less common in children. The tumor has slow growth and is asymptomatic in most pediatric cases, thus resulting in an accidental discovery; one-third of the young patient presents symptoms related to the compression of the tumor mass on the surrounding anatomic structures and/or related to paraneoplastic syndromes. Surgery is the treatment of choice and complete resection of the thymoma achieves excellent long-term results in terms of disease-free survival.

Pseudopapillary solid tumour of the pancreas in paediatric age: description of a case report and review of the literature.

Pseudopapillary solid tumour of the pancreas is a rare neoplasm that mainly affects young women in the second and third decade of life and less frequently children; originates from the exocrine component of the pancreas; and is characterized by slow growth, low potential for malignancy, and excellent prognosis following complete surgical resection. The tumour often presents as an asymptomatic abdominal mass that is accidentally detected during radiological investigations performed for other reasons. In this article, we report the clinical case of a 10-year-old girl who came to our observation for pain in the left hypochondrium, which had arisen for a week following a trauma; the imaging methods revealed a voluminous expansive pancreatic formation in the abdomen; on histological examination, the mass was a solid pseudopapillary tumour.

Sequential Administration of XPO1 and ATR Inhibitors Enhances Therapeutic Response in TP53-mutated Colorectal Cancer.

Background & Aims: Understanding the mechanisms by which tumors adapt to therapy is critical for developing effective combination therapeutic approaches to improve clinical outcomes for patients with cancer.

Methods: To identify promising and clinically actionable targets for managing colorectal cancer (CRC), we conducted a patient-centered functional genomics platform that includes approximately 200 genes and paired this with a high-throughput drug screen that includes 262 compounds in four patient-derived xenografts (PDXs) from patients with CRC.

Results: Both screening methods identified exportin 1 (XPO1) inhibitors as drivers of DNA damage-induced lethality in CRC.

Duodenal hematoma in pediatric age: a rare case report.

In pediatric age, duodenal hematoma is rare and generally occurs following a closed abdominal trauma due to the crushing of the duodenum against the rigid plane of the spine; it rarely follows anticoagulant therapy, pancreatitis, bleeding disorders, vasculitis, tumors or upper digestive endoscopy. Duodenal hematoma is a rare cause of obstruction of the upper gastrointestinal tract and acute pancreatitis, and the diagnosis is sometimes difficult and late. On the other hand, the identification of the pathology in its initial stages allows the young patients to be subjected to a conservative treatment that resolves the issue most of the time, thus avoiding surgery.

An Atypical Presentation of Primary Hyperparathyroidism in an Adolescent: A Case Report of Hypercalcaemia and Neuropsychiatric Symptoms Due to a Mediastinal Parathyroid Adenoma.

Psychiatric disorders are rare clinical manifestations of hypercalcaemia in the pediatric population, are relatively more frequent during adolescence and are often overlooked in cases of severe hypercalcaemia. We described the case of a 17-year-old girl affected by anorexia nervosa, depression and self-harm with incidental detection of moderate hypercalcaemia. Clinical, laboratory and instrumental tests demonstrated that hypercalcaemia was secondary to primary hyperparathyroidism (PHPT) due to a mediastinal parathyroid adenoma in the thymic parenchyma.