Infantile malignancies

Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis) which can be more subdivided into IM without or with visceral involvement. The tumors present as nodular lesions in the soft tissues, bones, and/or internal organs. Although the success of imaging in suggesting the correct diagnosis can't be denied, histopathology and Immunohistochemical examinations are necessary to confirm the diagnosis of IM as it might be misdiagnosed as a malignant tumor...

Ovarian lesions represent a diagnostic challenge for the radiologist and should be approached according to the patient's age, menstrual cycle, and imaging characteristics. These lesions can be cystic, mixed, or solid-predominant structures. Generally, the occurrence of benign lesions surpasses that of malignant ones at a ratio of 3:1. However, within infantile and juvenile age groups, this becomes an infrequent occurrence, making up only about 5% of ovarian tumor cases. This case report sheds light on a unique scenario involving a pediatric patient who harbored 2 benign tumors simultaneously: a mature cystic teratoma and a serous cystadenoma...

Concordant leukaemia in identical twins is rare. The likelihood of concordance of leukaemia in twins is near 100% in infancy, around 10% from 1 to 6 years of age, and rare at a later age with variable latency. Reporting of new cases of concordant leukaemia in twins is encouraged to contribute to data pool of this infrequent but exceptional condition; especially when the theories with respect to evolution, natural history and molecular evidence explaining concordant leukaemia in identical twins are still evolving...

BACKGROUND: Abnormalities of the ovary are frequently seen on ultrasound examination, sometimes symptomatic, but are more commonly asymptomatic. PURPOSE: Presentation of the most important entities of ovarian masses and their imaging features in infants and children. Discussion of criteria for differentiation between benign and potentially malignant masses. MATERIALS AND METHODS: Review of current literature and presentation of image examples...

BACKGROUND: Pleuropulmonary blastoma (PPB) is an extremely rare and malignant pediatric lung tumor. Purely cystic PPB has a more favorable prognosis than solid PPB, but may be difficult to distinguish from a certain type of "benign" congenital pulmonary airway malformation before and during surgery. The influence of tumor rupture on long life prognosis has not been clarified in detail. CASE PRESENTATION: A 5-month-old boy underwent emergency transfer from another hospital due to a left thoracic cystic lesion and left pneumothorax detected on chest radiography performed for persistent wheeze and cough...

Congenital infantile fibrosarcoma (CIFS) is a rare malignant soft tissue tumor. The incidence of fibrosarcoma is estimated to be 0.3 per 100 000 population per year, and it accounts for less than 1% of all soft tissue sarcomas. We present a case of a 7-day-old newborn with a large ulcerated and necrotic lesion on the left forearm, which was initially misdiagnosed as rhabdomyosarcoma. Magnetic resonance imaging (MRI) revealed a soft tissue mass with cystic components affecting the forearm and distal humerus muscles...

Objective: To investigate the clinical presentation and genetic characteristics of malignant infantile osteopetrosis. Methods: This was a retrospective case study. Thirty-seven children with malignant infantile osteopetrosis admitted into Beijing Children's Hospital from January 2013 to September 2022 were enrolled in this study. According to the gene mutations, the patients were divided into the CLCN7 group and the TCIRG1 group. Clinical characteristics, laboratory tests, and prognosis were compared between two groups...

Infantile hemangioma (IH) is the most common neoplasm in children, but it may mimic other types of vascular anomalies or nonvascular benign and malignant tumors. In most cases, the clinical appearance, time of onset, and pattern of involution facilitate its diagnosis. Imaging evaluation is not always needed since the IH features at clinical presentation are usually characteristic, but when needed, US and frequently MRI are the imaging modalities of choice. Clinical photography or photographic documentation plays a central role in monitoring these lesions over their clinical course...

Malignant migrating partial seizure of infancy (MMPSI) is a devastating and pharmacoresistant form of infantile epilepsy. MMPSI has been linked to multiple gain-of-function (GOF) mutations in the KCNT1 gene, which encodes for a potassium channel often referred to as SLACK. SLACK channels are sodium-activated potassium channels distributed throughout the central nervous system (CNS) and the periphery. The investigation described here aims to discover SLACK channel inhibitor tool compounds and profile their pharmacokinetic and pharmacodynamic properties...

While Brugada syndrome (BrS) is well described in adults and older children, presentation of BrS within the first 12 months of life is rare and therefore poorly characterized. We report a 7-year-old male with a malignant BrS phenotype with onset at 8 months of age, leading to multiple ventricular tachycardia (VT) and ventricular fibrillation (VF) related cardiac arrests and ultimately his death. The report is supplemented by a comprehensive review of existing literature on infantile-onset BrS and unique features in this population are discussed...

OBJECTIVES: Hypercalcemia has been reported as an uncommon complication of the ketogenic diet (KD). Here we present a toddler whose hypercalcemia persisted for 2 months after stopping the KD. CASE PRESENTATION: A 2 year 11-month-old child with global developmental delay, infantile spasms, neuromuscular weakness with limited mobility, tracheostomy and ventilator dependence, and oropharyngeal dysphagia with G-tube dependence presented with hypercalcemia in the setting of recurrent vomiting...

Mesenchymal spindle cell tumors with kinase fusions, often presenting in superficial or deep soft tissue locations, may rarely occur in bone. Herein, we describe the clinicopathologic and molecular data of eight bone tumors characterized by various kinase fusions from our files and incorporate the findings with the previously reported seven cases, mainly as single case reports. In the current series all but one of the patients were young children or teenagers, with an age range from newborn to 59 years (mean 19 years)...

OBJECTIVES: Anomalous left coronary artery from the pulmonary artery (ALCAPA) syndrome is a rare congenital coronary artery malformation with a high rate of clinical missed diagnosis and misdiagnosis. At present, there is a lack of reports on the clinical manifestations of ALCAPA and the imaging features of coronary computed tomography angiography (CTA). This study aims to summarize the clinical characteristics and coronary CTA imaging features of ALCAPA to improve the clinical diagnosis and treatment...

BACKGROUND: Osteopetrosis and related osteoclastic disorders are a heterogeneous group of inherited diseases characterized by increased bone density. The aim of this study is to investigate the molecular spectrum and natural history of the clinical and radiological features of these disorders. METHODS: 28 patients and 20 families were enrolled in the study; 20 of them were followed for a period of 1-16 years. Targeted gene analysis and whole-exome sequencing (WES) were performed...

A halo phenomenon describes a skin neoplasm that is surrounded by a hypopigmented or white halo. Halo lesions have been observed in association with an epithelial neoplasm (seborrheic keratosis), a fibrous lesion (surgical scar), a keratinocyte malignancy (basal cell carcinoma), melanocytic neoplasms, and vascular lesions. Benign lesions (café au lait macules and nevi) and malignant tumors (primary and metastatic melanoma) are melanocytic neoplasms that have developed perilesional halos. Halo nevi are a commonly occurring manifestation of a halo phenomenon; however, perilesional hypopigmented halos have also been observed around nevi in patients following treatment with antineoplastic drugs, acquisition of COVID-19 (infection and vaccine), the occurrence of a visceral tumor (including not only melanoma, but also papillary thyroid carcinoma and neuroendocrine cancer of the lung), surgery (such as the excision of a primary melanoma), and Turner syndrome...

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1, n  = 15; benign lesions), heterogeneous hyperperfusion (pattern 2, n  = 9; cellulitis, histiocytosis, malignant tumors), and homogeneous intense hyperperfusion (pattern 3, n  = 3; infantile hemangiomas)...

Hamartomas are tumor-like abnormalities typified by the presence of cellular proliferation indigenous to the native site. However, hamartomas maintain growth cessation without the potential for further growth or malignant transformation. Hamartomas are commonly seen in the lungs, kidney, liver, and spleen and rarely occur in the orofacial region. Various hamartomatous oral lesions include hemangiomas, lymphangiomas, tori, exostosis, dens invaginatus, dens evaginatus, odontomas, nevi, and cherubism. Infantile hemangiomas are benign vascular tumors that emerge soon after birth and experience rapid growth within the first year...

We describe a 2-month-old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith-Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 as the underlying genetic mechanism suggested by partial hypermethylation of H19/IGF2:IG-DMR and partial hypomethylation of KCNQ1OT1:TSS-DMR on chromosome 11p15.5. Pediatric endocrinology and cardiology assessments were normal...

Brain tumors account for 20-25% of pediatric cancers. The most frequent type of brain tumor is Glioma from grade I to grade IV according to the rate of malignancy. Current treatments for gliomas use chemotherapy, radiotherapy, tyrosine kinase inhibitors, monoclonal antibodies and surgery, but each of the treatment strategies has several serious side effects. Therefore, to improve treatment efficacy, it is necessary to tailor therapies to patient and tumor characteristics, using appropriate molecular targets...

Postinfantile giant cell hepatitis (PIGCH) is a rare hepatitis pattern in adults with variable etiologies and clinical outcomes. We conducted a multi-institutional retrospective study to define the clinicopathologic characteristics of patients with PIGCH. A total of 70 PIGCH cases were identified and reviewed for pathological features, including fibrosis, cholestasis, inflammation, steatosis, necrosis, and apoptosis, as well as the distribution of giant cells and the maximum number of giant cells per high-power field...