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Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary cancer risk syndrome requiring ongoing cancer screening. Identification of at-risk patients through family history, clinical features of syndrome, or symptom onset ensures appropriate cancer risk assessment and management in childhood and beyond. In this 2024 perspective, we outline updates to the hereditary GI cancer screening guidelines first published by the American Association of Cancer Research Pediatric Cancer Predisposition Workshop in 2017.1 These guidelines consider existing recommendations by pediatric and adult gastroenterology consortia to ensure alignment with gastroenterology practices in managing polyposis conditions. We specifically address the recommendations for pediatric screening in familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Further, we emphasize the importance of multidisciplinary care and partnership with gastroenterology, as it is crucial in management of children and families with these conditions.
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BACKGROUND: Image-defined risk factors (IDRFs) were promulgated for predicting the feasibility and safety of complete primary tumor resection in children with neuroblastoma (NB). There is limited understanding of the impact of individual IDRFs on resectability of the primary tumor or patient outcomes. A multicenter database of patients with high-risk NB was interrogated to answer this question. DESIGN/METHODS: Patients with high-risk NB (age <20 years) were eligible if cross-sectional imaging was performed at least twice prior to resection. IDRFs and primary tumor measurements were recorded for each imaging study. Extent of resection was determined from operative reports. RESULTS: There were 211 of 229 patients with IDRFs at diagnosis, and 171 patients with IDRFs present pre-surgery. A ≥90% resection was significantly more likely in the absence of tumor invading or encasing the porta hepatis, hepatoduodenal ligament, superior mesenteric artery (SMA), renal pedicles, abdominal aorta/inferior vena cava (IVC), iliac vessels, and/or diaphragm at diagnosis or an overlapping subset of IDRFs (except diaphragm) at pre-surgery. There were no significant differences in event-free survival (EFS) and overall survival (OS) when patients were stratified by the presence versus absence of any IDRF either at diagnosis or pre-surgery. CONCLUSION: Two distinct but overlapping subsets of IDRFs present either at diagnosis or after induction chemotherapy significantly influence the probability of a complete resection in children with high-risk NB. The presence of IDRFs was not associated with significant differences in OS or EFS in this cohort.
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Neuroblastoma , Humanos , Neuroblastoma/cirurgia , Neuroblastoma/patologia , Neuroblastoma/mortalidade , Neuroblastoma/diagnóstico por imagem , Masculino , Feminino , Pré-Escolar , Criança , Lactente , Fatores de Risco , Adolescente , Taxa de Sobrevida , Prognóstico , Seguimentos , Recém-Nascido , Estudos RetrospectivosRESUMO
Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the PMS2, MSH6, MSH2, or MLH1 genes, and/or in the polymerase-proofreading genes POLE and POLD1. RRD predisposition syndromes (constitutional MMR deficiency, Lynch, and polymerase proofreading-associated polyposis) share overlapping phenotypic and biological characteristics. Moreover, cancers stemming from germline defects of one mechanism can acquire somatic defects in another, leading to complete RRD. Here we describe the recent advances in the diagnostics, surveillance, and clinical management for children with RRD syndromes. For patients with constitutional MMR deficiency, new data combining clinical insights and cancer genomics have revealed genotype-phenotype associations and helped in the development of novel functional assays, diagnostic guidelines, and surveillance recommendations. Recognition of non-gastrointestinal/genitourinary malignancies, particularly aggressive brain tumors, in select children with Lynch and polymerase proofreading-associated polyposis syndromes harboring an RRD biology have led to new management considerations. Additionally, universal hypermutation and microsatellite instability have allowed immunotherapy to be a paradigm shift in the treatment of RRD cancers independent of their germline etiology. These advances have also stimulated a need for expert recommendations about genetic counseling for these patients and their families. Future collaborative work will focus on newer technologies such as quantitative measurement of circulating tumor DNA and functional genomics to tailor surveillance and clinical care, improving immune surveillance; develop prevention strategies; and deliver these novel discoveries to resource-limited settings to maximize benefits for patients globally.
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Distúrbios no Reparo do DNA , Humanos , Criança , Distúrbios no Reparo do DNA/genética , Distúrbios no Reparo do DNA/diagnóstico , Adulto Jovem , Adolescente , Reparo de Erro de Pareamento de DNA/genética , Replicação do DNA/genética , Predisposição Genética para Doença , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/terapia , Instabilidade de MicrossatélitesRESUMO
INTRODUCTION: Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in children and adults. In adolescents and adults, hyperinsulinemic hypoglycemia is most frequently caused by an insulin-producing tumor. CASE PRESENTATION: A 17-year-old, previously healthy male presented with recurrent and severe episodes of hypoglycemia. Diagnostic evaluation was consistent with hyperinsulinemic hypoglycemia, and an insulinoma was suspected. Multiple imaging studies and surgical exploration failed to identify a lesion. Over the course of months, the patient was found to be refractory to conventional medical interventions. CONCLUSION: Upon approval from the US Food and Drug Administration and the Institutional Review Board, the patient was treated with dasiglucagon, a novel soluble glucagon analog, under a single-patient Investigational New Drug. The patient has tolerated the medication and has been able to achieve appropriate glycemic control.
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Glucagon , Hiperinsulinismo , Hipoglicemia , Adolescente , Humanos , Masculino , Glucagon/uso terapêutico , Glucagon/análogos & derivados , Hiperinsulinismo/tratamento farmacológico , Hiperinsulinismo/complicações , Hipoglicemia/tratamento farmacológico , Hipoglicemia/patologia , Insulinoma/complicações , Insulinoma/tratamento farmacológico , Insulinoma/diagnóstico , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/tratamento farmacológicoRESUMO
ABSTRACT: An 18-month-old otherwise healthy girl presented with 1 month of neck swelling. Based on ultrasonography that showed diffusely enlarged heterogeneous thyroid gland, a presumed diagnosis of thyroid cancer was made. Subsequent core needle biopsy revealed Langerhans cell histiocytosis extensively involving the thyroid. 18 F-FDG PET/MR was performed for staging and to evaluate the local extent of the disease in the neck. PET/MR demonstrated a hypermetabolic neck mass inseparable from the thyroid gland. The mass encased the major vessels, trachea, and esophagus without compression or invasion. Osseous involvement was excluded by both skeletal survey and PET/MR.
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Histiocitose de Células de Langerhans , Neoplasias da Glândula Tireoide , Feminino , Humanos , Lactente , Fluordesoxiglucose F18 , Histiocitose de Células de Langerhans/patologia , Pescoço/patologiaRESUMO
Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome with up to 90% lifetime cancer risk. Cancer screening, including annual whole-body MRI (WB-MRI), is recommended due to known survival advantage, with cancer detection rate of 7% on initial screening. Intervention and cancer detection rates on subsequent screenings are unknown. Clinical data for pediatric and adult patients with LFS (n = 182) were reviewed, including instances of WB-MRI screening and interventions based on screening results. For each WB-MRI screening, interventions including biopsy and secondary imaging, as well as rate of cancer diagnosis, were analyzed comparing initial versus subsequent WB-MRI. Of the total cohort (n = 182), we identified 68 adult patients and 50 pediatric patients who had undergone at least two WB-MRI screenings, with a mean of 3.8 ± 1.9 (adults) and 4.0 ± 2.1 (pediatric) screenings. Findings on initial screening led to an imaging or invasive intervention in 38% of adults and 20% of children. On follow up, overall intervention rates were lower for adults (19%, P = 0.0026) and stable for children (19%, P = NS). Thirteen cancers were detected overall (7% of adult and 14% of pediatric scans), on both initial (pediatric: 4%, adult: 3%) and subsequent (pediatric: 10%, adult: 6%) screenings. Rates of intervention after WB-MRI screening decreased significantly in adults between first and subsequent exams and remained stable in pediatric patients. Cancer detection rates were similar on screening (3%-4% initial, 6%-10% subsequent) for both children and adults. These findings provide important data for counseling patients with LFS about screening outcomes. PREVENTION RELEVANCE: The cancer detection rate, burden of recommended interventions, and rate of false-positive findings found on subsequent WB-MRI screenings in patients with LFS are not well understood. Our findings suggest that annual WB-MRI screening has clinical utility and likely does not result in an unnecessary invasive intervention burden for patients.
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Síndrome de Li-Fraumeni , Adulto , Humanos , Criança , Síndrome de Li-Fraumeni/diagnóstico por imagem , Síndrome de Li-Fraumeni/genética , Detecção Precoce de Câncer/métodos , Imagem Corporal Total/métodos , Imageamento por Ressonância Magnética , Genótipo , Predisposição Genética para DoençaRESUMO
CONTEXT: The American Thyroid Association (ATA) Pediatric Guidelines recommend patients not receive radioactive iodine therapy (RAIT) for differentiated thyroid cancer (DTC) confined to the thyroid. Since publication, there is ongoing concern whether withholding RAIT will result in a lower rate of remission. OBJECTIVE: This study explores whether ATA low-risk patients treated with and without RAIT achieved similar remission rates. METHODS: Medical records of patients <19 years old diagnosed with DTC and treated with total thyroidectomy between 2010 and 2020 were reviewed. Multivariate logistic regression was performed to evaluate factors influencing RAIT administration and remission rate. RESULTS: Ninety-five patients with ATA low-risk DTC were analyzed: 53% (50/95) and 47% (45/95) were treated with and without RAIT, respectively. RAIT was used to treat 82% of patients before 2015 compared with 33% of patients after 2015 (P < .01). No significant difference in 1-year remission rate was found between patients treated with and without RAIT, 70% (35/50) vs 69% (31/45), respectively. With longer surveillance, remission rates increased to 82% and 76% for patients treated with and without RAIT, respectively. Median follow-up was 5.8 years (IQR 4.3-7.9, range 0.9-10.9) and 3.6 years (IQR 2.7-6.6; range 0.9-9.3) for both cohorts. No risk factors for persistent or indeterminate disease status were found, including RAIT administration, N1a disease, and surgery after 2015. CONCLUSION: Withholding RAIT for pediatric patients with ATA low-risk DTC avoids exposure to radiation and does not have a negative impact on remission rates. Dynamic risk stratification at 1-year after initial treatment is a suitable time point to assess the impact of withholding RAIT for these patients.
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Adenocarcinoma , Neoplasias da Glândula Tireoide , Humanos , Criança , Adulto Jovem , Adulto , Neoplasias da Glândula Tireoide/radioterapia , Neoplasias da Glândula Tireoide/cirurgia , Radioisótopos do Iodo/uso terapêutico , Tireoidectomia , Fatores de Risco , Adenocarcinoma/cirurgia , Estudos RetrospectivosRESUMO
OBJECTIVES: We evaluate MR radiomics and develop machine learning-based classifiers to predict MYCN amplification in neuroblastomas. METHODS: A total of 120 patients with neuroblastomas and baseline MR imaging examination available were identified of whom 74 (mean age ± standard deviation [SD] of 6 years and 2 months ± 4 years and 9 months; 43 females and 31 males, 14 MYCN amplified) underwent imaging at our institution. This was therefore used to develop radiomics models. The model was tested in a cohort of children with the same diagnosis but imaged elsewhere (n = 46, mean age ± SD: 5 years 11 months ± 3 years 9 months, 26 females and 14 MYCN amplified). Whole tumour volumes of interest were adopted to extract first-order histogram and second-order radiomics features. Interclass correlation coefficient and maximum relevance and minimum redundancy algorithm were applied for feature selection. Logistic regression, support vector machine, and random forest were employed as the classifiers. Receiver operating characteristic (ROC) analysis was performed to evaluate the diagnostic accuracy of the classifiers on the external test set. RESULTS: The logistic regression model and the random forest both showed an AUC of 0.75. The support vector machine classifier obtained an AUC of 0.78 on the test set with a sensitivity of 64% and a specificity of 72%. CONCLUSION: The study provides preliminary retrospective evidence demonstrating the feasibility of MRI radiomics in predicting MYCN amplification in neuroblastomas. Future studies are needed to explore the correlation between other imaging features and genetic markers and to develop multiclass predictive models. KEY POINTS: ⢠MYCN amplification in neuroblastomas is an important determinant of disease prognosis. ⢠Radiomics analysis of pre-treatment MR examinations can be used to predict MYCN amplification in neuroblastomas. ⢠Radiomics machine learning models showed good generalisability to external test set, demonstrating reproducibility of the computational models.
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Imageamento por Ressonância Magnética , Neuroblastoma , Masculino , Feminino , Criança , Humanos , Proteína Proto-Oncogênica N-Myc/genética , Estudos Retrospectivos , Reprodutibilidade dos Testes , Imageamento por Ressonância Magnética/métodos , Neuroblastoma/diagnóstico por imagem , Neuroblastoma/genéticaRESUMO
Neuroblastomas harbor ALK aberrations clinically resistant to crizotinib yet sensitive pre-clinically to the third-generation ALK inhibitor lorlatinib. We conducted a first-in-child study evaluating lorlatinib with and without chemotherapy in children and adults with relapsed or refractory ALK-driven neuroblastoma. The trial is ongoing, and we report here on three cohorts that have met pre-specified primary endpoints: lorlatinib as a single agent in children (12 months to <18 years); lorlatinib as a single agent in adults (≥18 years); and lorlatinib in combination with topotecan/cyclophosphamide in children (<18 years). Primary endpoints were safety, pharmacokinetics and recommended phase 2 dose (RP2D). Secondary endpoints were response rate and 123I-metaiodobenzylguanidine (MIBG) response. Lorlatinib was evaluated at 45-115 mg/m2/dose in children and 100-150 mg in adults. Common adverse events (AEs) were hypertriglyceridemia (90%), hypercholesterolemia (79%) and weight gain (87%). Neurobehavioral AEs occurred mainly in adults and resolved with dose hold/reduction. The RP2D of lorlatinib with and without chemotherapy in children was 115 mg/m2. The single-agent adult RP2D was 150 mg. The single-agent response rate (complete/partial/minor) for <18 years was 30%; for ≥18 years, 67%; and for chemotherapy combination in <18 years, 63%; and 13 of 27 (48%) responders achieved MIBG complete responses, supporting lorlatinib's rapid translation into active phase 3 trials for patients with newly diagnosed high-risk, ALK-driven neuroblastoma. ClinicalTrials.gov registration: NCT03107988 .
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Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Neuroblastoma , Adulto , Humanos , 3-Iodobenzilguanidina/uso terapêutico , Aminopiridinas/uso terapêutico , Quinase do Linfoma Anaplásico/genética , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Lactamas Macrocíclicas/efeitos adversos , Neoplasias Pulmonares/tratamento farmacológico , Recidiva Local de Neoplasia/tratamento farmacológico , Neuroblastoma/tratamento farmacológico , Neuroblastoma/genética , Inibidores de Proteínas Quinases/uso terapêutico , Criança , Lactente , Pré-Escolar , AdolescenteRESUMO
Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare disorder that causes significant neurodevelopmental sequelae in children. Approximately half of pediatric OMAS cases are paraneoplastic, typically associated with localized neuroblastic tumors. Since early persistence or relapse of OMAS symptoms is common even after tumor resection, OMAS relapses may not routinely prompt reevaluation for recurrent tumors. We report a 12-year-old girl with neuroblastic tumor recurrence associated with OMAS relapse a decade after initial treatment. Providers should be aware of tumor recurrence as a trigger for distant OMAS relapse, raising intriguing questions about the role of immune surveillance and control of neuroblastic tumors.
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Síndrome de Opsoclonia-Mioclonia , Feminino , Humanos , Criança , Síndrome de Opsoclonia-Mioclonia/etiologia , Síndrome de Opsoclonia-Mioclonia/terapia , Recidiva Local de Neoplasia , Ataxia/terapia , Ataxia/complicaçõesRESUMO
PURPOSE: To assess and compare the diagnostic accuracy of whole-body (WB) DW-MRI with 2-[18F]FDG PET for staging and treatment monitoring of children with Langerhans cell histiocytosis (LCH). METHODS: Twenty-three children with LCH underwent 2-[18F]FDG PET and WB DW-MRI at baseline. Two nuclear medicine physicians and two radiologists independently assessed presence/absence of tumors in 8 anatomical areas. Sixteen children also performed 2-[18F]FDG PET and WB DW-MRI at follow-up. One radiologist and one nuclear medicine physician revised follow-up scans and collected changes in tumor apparent diffusion (ADC) and standardized uptake values (SUV) before and after therapy in all detectable lesions. 2-[18F]FDG PET results were considered the standard of reference for tumor detection and evaluation of treatment response according to Lugano criteria. Sensitivity, specificity, positive and negative predictive values, and diagnostic accuracy of WB DW-MRI at baseline were calculated, and the 95% confidence intervals were estimated by using the Clopper-Pearson (exact) method; changes in tumor SUVs and ADC were compared using a Mann-Whitney U test. Agreement between reviewers was assessed with a Cohen's weighted kappa coefficient. Analyses were conducted using SAS software version 9.4. RESULTS: Agreement between reviewers was perfect (kappa coefficient = 1) for all analyzed regions but spine and neck (kappa coefficient = 0.89 and 0.83, respectively) for 2-[18F]FDG PET images, and abdomen and pelvis (kappa coefficient = 0.65 and 0.88, respectively) for WB DW-MRI. Sensitivity and specificity were 95.5% and 100% for WB DW-MRI compared to 2-[18F]FDG PET. Pre to post-treatment changes in SUVratio and ADCmean were inversely correlated for all lesions (r: -0.27, p = 0·06) and significantly different between responders and non-responders to chemotherapy (p = 0.0006 and p = 0·003 for SUVratio and ADCmean, respectively). CONCLUSION: Our study showed that WB DW-MRI has similar accuracy to 2-[18F]FDG PET for staging and treatment monitoring of LCH in children. While 2-[18F]FDG PET remains an approved radiological examination for assessing metabolically active disease, WB DW-MRI could be considered as an alternative approach without radiation exposure. The combination of both modalities might have advantages over either approach alone.
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Histiocitose de Células de Langerhans , Neoplasias , Humanos , Criança , Fluordesoxiglucose F18 , Imagem de Difusão por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/métodos , Compostos Radiofarmacêuticos , Imagem Corporal Total/métodos , Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/terapia , Tomografia por Emissão de Pósitrons/métodos , Estadiamento de NeoplasiasRESUMO
The most common pediatric extragonadal pelvic cancers include germ cell tumors, sacrococcygeal teratomas, and rhabdomyosarcomas (arising from the urinary bladder, prostate, paratesticular tissues, vagina, uterus, and perineum). This paper describes the radiological and nuclear medicine features of these entities and provides consensus-based recommendations for the assessment at diagnosis, during, and after treatment.
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Neoplasias Embrionárias de Células Germinativas , Neoplasias de Tecidos Moles , Teratoma , Masculino , Feminino , Humanos , Criança , Ressonância de Plasmônio de Superfície , Teratoma/patologia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Diagnóstico por ImagemRESUMO
Pediatric pulmonary malignancy can be primary or metastatic, with the latter being by far the more common. With a few exceptions, there are no well-established evidence-based guidelines for imaging pediatric pulmonary malignancies, although computed tomography (CT) is used in almost all cases. The aim of this article is to provide general imaging guidelines for pediatric pulmonary malignancies, including minimum standards for cross-sectional imaging techniques and specific imaging recommendations for select entities.
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Neoplasias Pulmonares , Blastoma Pulmonar , Criança , Humanos , Blastoma Pulmonar/patologia , Ressonância de Plasmônio de Superfície , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Pulmão/patologia , Tomografia Computadorizada por Raios X/métodosRESUMO
Primary pancreatic tumors in children are rare with an overall age-adjusted incidence of 0.018 new cases per 100,000 pediatric patients. The most prevalent histologic type is the solid pseudopapillary neoplasm, followed by pancreatoblastoma. This paper describes relevant imaging modalities and presents consensus-based recommendations for imaging at diagnosis and follow-up.
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Carcinoma Papilar , Neoplasias Pancreáticas , Criança , Humanos , Ressonância de Plasmônio de Superfície , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/patologia , Tomografia Computadorizada por Raios X/métodos , Carcinoma Papilar/patologia , Pâncreas/diagnóstico por imagem , Pâncreas/patologiaRESUMO
Objective: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI. Design: The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined. Methods: We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children to look for mosaic mutations in genes known to be associated with diazoxide-unresponsive HI (ABCC8, KCNJ11, and GCK). Results: Children with LINE-HI had lower birth weights and later ages of presentation compared to children with typical focal or diffuse HI. Partial pancreatectomy in LINE-HI cases resulted in euglycemia in 75% of cases; no cases have developed diabetes. Low-level mosaic mutations were identified in the pancreas of six cases with LINE-HI (three in ABCC8, three in GCK). Expression studies confirmed that all novel mutations were pathogenic. Conclusion: These results indicate that post-zygotic low-level mosaic mutations of known HI genes are responsible for some cases of LINE-HI that lack an identifiable germ-line mutation and that partial pancreatectomy may be curative for these cases.
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Hiperinsulinismo Congênito , Quinases do Centro Germinativo , Receptores de Sulfonilureias , Criança , Hiperinsulinismo Congênito/genética , Diazóxido , Genótipo , Quinases do Centro Germinativo/genética , Humanos , Mutação , Fenótipo , Receptores de Sulfonilureias/genéticaRESUMO
There is a broad differential diagnosis for a pre-pubertal child presenting with a scrotal mass including both benign and malignant etiologies. Lipoblastomas are rare benign neoplasms originating from fat cells that occur most commonly on the trunk or extremities of young children. There have been less than 20 cases of scrotal lipoblastomas reported in the literature, with the majority occurring in children less than 3 years of age. Here we present a unique case of an 18-month male presenting with a paratesticular mass found to be a lipoblastoma on final pathology.
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Lipoblastoma , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Lipoblastoma/diagnóstico , Lipoblastoma/patologia , Lipoblastoma/cirurgia , Masculino , Escroto/patologiaRESUMO
OBJECTIVES: To determine the role of apparent diffusion coefficient (ADC) histogram analysis in the identification of MYCN-amplification status in neuroblastomas. METHODS: We retrospectively evaluated imaging records from 62 patients with neuroblastomas (median age: 15 months (interquartile range (IQR): 7-24 months); 38 females) who underwent magnetic resonance imaging at our institution before the initiation of any therapy or biopsy. Fourteen patients had MYCN-amplified (MYCNA) neuroblastoma. Histogram parameters of ADC maps from the entire tumour was obtained from the baseline images and the normalised images. The Mann-Whitney U test was used to compare the absolute and normalised histogram parameters amongst neuroblastomas with and without MYCN-amplification. Receiver operating characteristic (ROC) curves and area under the curves (AUC) were generated for the statistically significant histogram parameters. Cut-offs obtained from the ROC curves were evaluated on an external validation set (n-15, MYCNA-6, F-7, age 24 months (10-60)). A logistic regression model was trained to predict MYCNA by combining statistically significant histogram parameters and was evaluated on the validation set. RESULTS: MYCN-amplified neuroblastomas had statistically significant higher maximum ADC and lower minimum ADC than non-amplified neuroblastomas. They also demonstrated higher entropy, variance, energy, and lower uniformity than non-amplified neoplasms (p > 0.05). Energy, entropy, and maximum ADC had AUC of 0.85, 0.79, and 0.82, respectively. CONCLUSIONS: Whole tumour ADC histogram analysis of neuroblastomas can differentiate between tumours with and without MYCN-amplification. These parameters can help identify areas for targeted biopsies or can be used to predict subtypes of these high-risk tumours before biopsy results are available. KEY POINTS: ⢠MYCN-amplification significantly affects treatment decisions in neuroblastomas. ⢠MYCN-amplified neuroblastomas had significantly different ADC histogram metrics as compared to tumours without amplification. ⢠ADC histogram metrics can be used to predict MYCN-amplification status based on imaging.