Teratomas are neoplasms arising from germ cells and encompass tissues derived from two or more embryonic germ layers, including ectoderm, mesoderm, and endoderm. These tumours typically localize along the midline or in paramedian positions and can manifest as gonadal (20%) or extragonadal (80%) entities. Although gonadal teratomas are uncommon, they represent the predominant type of gonadal tumour in the paediatric population. They comprise approximately 20–25% of all ovarian tumours in females and about 3–5% of all testicular tumours in males. Ovarian teratomas exhibit a higher incidence in early childhood and adolescence, whereas testicular teratomas are more prevalent during the first three months of life and between the ages of 15 and 19. While the majority of paediatric gonadal teratomas are benign, malignant or mixed variants may also arise, necessitating more aggressive therapeutic interventions.

Idiopathic Interstitial Pneumonias (IIPs) are a heterogeneous group of the broader category of Interstitial Lung Diseases (ILDs), pathologically characterized by the distortion of lung parenchyma by interstitial inflammation and/or fibrosis. The American Thoracic Society (ATS)/European Respiratory Society (ERS) international multidisciplinary consensus classification of the IIPs was published in 2002 and then updated in 2013, with the authors emphasizing the need for a multidisciplinary approach to the diagnosis of IIPs. The histological evaluation of IIPs is challenging, and different types of IIPs are classically associated with specific histopathological patterns. However, morphological overlaps can be observed, and the same histopathological features can be seen in totally different clinical settings. Therefore, the pathologist’s aim is to recognize the pathologic–morphologic pattern of disease in this clinical setting, and only after multi-disciplinary evaluation, if there is concordance between clinical and radiological findings, a definitive diagnosis of specific IIP can be established, allowing the optimal clinical–therapeutic management of the patient.

Cardiac tumors (CTs), although rare, can be a significant cause of sudden cardiac death (SCD), particularly when not diagnosed early. The tumors most associated with SCD include myxomas, fibromas, rhabdomyomas, and sarcomas, which can cause fatal arrhythmias, blood flow obstruction, or embolization. Myxomas, which often develop in the left atrium, can cause valvular obstruction or cerebral emboli, while malignant tumors, such as sarcomas, can infiltrate the myocardium or conduction system, causing serious arrhythmias. Rhabdomyomas, which are common in children and associated with tuberous sclerosis, can lead to ventricular tachyarrhythmias. Early diagnosis using advanced imaging techniques such as echocardiography and magnetic resonance imaging is crucial for preventing SCD. Timely diagnosis and precise characterization of lesions can help reduce the risk of SCD, thus improving the clinical management of patients, with the aim of supporting personalized treatment and improving life prospects. In this state-of-the-art review, we analyze the association between CTs and SCD, with particular attention to the histological features of benign and malignant neoplasms. Through an updated overview of the pathological aspects, we aim to improve the understanding of these tumors and promote a more effective multidisciplinary diagnostic and therapeutic approach to prevent fatal events.

Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes, manifested as alterations in the total number of chromosomes or as structural abnormalities involving the loss, duplication, or rearrangement of chromosomal segments. CAs can be inherited or can occur spontaneously, leading to congenital malformations and genetic diseases. CAs associated with cardiovascular diseases cause structural or functional alterations of the heart, affecting the cardiac chambers, valves, coronary arteries, aorta, and cardiac conduction, thus increasing the likelihood of arrhythmias, cardiac arrest, and sudden cardiac death (SCD). An early diagnosis and the adequate management of chromosomal abnormalities associated with cardiovascular diseases are essential to prevent SCD, which is a serious public health problem today. In our review, we analyzed the structural and functional CAs responsible for congenital heart disease (CHD) that increase the risk of SCD and analyzed the prevention strategies to be implemented to reduce SCD.

Non-small cell lung cancer (NSCLC), the leading cause of cancer death worldwide, is still an unmet medical problem due to the lack of both effective therapies against advanced stages and markers to allow a diagnosis of the disease at early stages before its progression. Immunotherapy targeting the PD-1/PD-L1 checkpoint is promising for many cancers, including NSCLC, but its success depends on the tumor expression of PD-L1. PATZ1 is an emerging cancer-related transcriptional regulator and diagnostic/prognostic biomarker in different malignant tumors, but its role in lung cancer is still obscure. Here we investigated expression and role of PATZ1 in NSCLC, in correlation with NSCLC subtypes and PD-L1 expression. A cohort of 104 NSCLCs, including lung squamous cell carcinomas (LUSCs) and adenocarcinomas (LUADs), was retrospectively analyzed by immunohistochemistry for the expression of PATZ1 and PD-L1. The results were correlated with each other and with the clinical characteristics, showing on the one hand a positive correlation between the high expression of PATZ1 and the LUSC subtype and, on the other hand, a negative correlation between PATZ1 and PD-L1, validated at the mRNA level in independent NSCLC datasets. Consistently, two NSCLC cell lines transfected with a PATZ1-overexpressing plasmid showed PD-L1 downregulation, suggesting a role for PATZ1 in the negative regulation of PD-L1. We also showed that PATZ1 overexpression inhibits NSCLC cell proliferation, migration, and invasion, and that Patz1-knockout mice develop LUAD. Overall, this suggests that PATZ1 may act as a tumor suppressor in NSCLC.

Even though children’s malignant bone tumours are rare, it is crucial to understand how to identify and stage them accurately to develop an appropriate treatment plan. Ewing’s sarcoma and osteosarcoma are the two main paediatric bone malignancies and require multidisciplinary treatment involving radiologists, orthopaedists, oncologists, pathologists, and paediatricians. These neoplasms may be associated with genetic syndromes but typically occur in patients with no known germline abnormalities. With a frequency of 4.4 per million, osteosarcoma is the most common malignant bone tumour in children. Ewing’s sarcoma has an incidence of 2.5 to 3 per million, making it the second most prevalent. Clinically, these neoplasms present with pain and inflammation in the bones and joints, nocturnal pain unresponsive to drug therapy, systemic symptoms such as fever or weight loss, and persistent symptoms—all of which should prompt clinicians to initiate further diagnostic investigations. The gold standard for diagnosis includes X-ray examination and MRI, which provide an accurate assessment of tumour extension into the medullary canal and surrounding soft tissues. Fluorine-18-labelled FDG-PET scans or fluoro-deoxyglucose positron emission tomography are valuable for evaluating tumour aggressiveness and excluding metastases. A biopsy is mandatory once all other diagnostic tests have been completed. Accurate diagnosis and timely referral to an experienced clinic are essential for ensuring prompt access to treatment and improving patient outcomes.