Clinical and Outcome Characteristics of Children With Adrenocortical Tumors: A Report From the International Pediatric Adrenocortical Tumor Registry

Michalkiewicz, Edson; Sandrini, Romolo; Figueiredo, Bonald C.; Miranda, Eliana Cristina Martins; Caran, Eliana Maria Monteiro; Oliveira-Filho, Antônio Gonçalves de; Marques, Rita; Pianovski, Mara Albonei Dudeque; Lacerda, Luiz de; Cristófani, Lílian Maria; Jenkins, Jesse J.; Rodríguez‐Galindo, Carlos; Ribeiro, Raul C.

doi:10.1200/jco.2004.08.085

Cited by 450 publications

(604 citation statements)

References 32 publications

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“…Although the penetrance of ACC in R337H carriers is relatively low (only 10%), it represents a 20,000-fold increased risk for ACC based on worldwide estimates (Michalkiewicz et al, 2004;Figueiredo et al, 2006). The incomplete penetrance may be related in part to the inability of R337H to act as a dominant negative regulator of wild-type p53.…”

Section: Li-fraumeni Syndrome and Inherited P53 Mutationsmentioning

confidence: 99%

The p53 mutation “gradient effect” and its clinical implications

Zambetti

2007

Journal Cellular Physiology

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The p53 tumor suppressor-signaling pathway is inactivated in most human cancers. Depending on how p53 is targeted during tumorigenesis impacts whether partial or full tumor suppressor activity is lost. The degree of remaining p53 activity, if any, intuitively impacts the tumor phenotype. This review focuses on recent findings from human cancer studies and genetically engineered mouse models to highlight a p53 functional ''gradient effect'' and its clinical implications.

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Section: Li-fraumeni Syndrome and Inherited P53 Mutationsmentioning

confidence: 99%

The p53 mutation “gradient effect” and its clinical implications

Zambetti

2007

Journal Cellular Physiology

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“…25 A tumor registry for ACC has now been established to facilitate continued clinical and biologic studies and to prepare an infrastructure for subsequent clinical trials of prevention and early detection. 26 …”

Section: Adrenocortical Carcinoma and Retinoblastoma As Models Of Thementioning

confidence: 99%

Childhood cancer epidemiology in low‐income countries

Howard

Metzger

Wilimas

et al. 2007

Cancer

238

183

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Global studies of childhood cancer provide clues to cancer etiology, facilitate prevention and early diagnosis, identify biologic differences, improve survival rates in low-income countries (LIC) by facilitating quality improvement initiatives, and improve outcomes in high-income countries (HIC) through studies of tumor biology and collaborative clinical trials. Incidence rates of cancer differ between various ethnic groups within a single country and between various countries with similar ethnic compositions. Such differences may be the result of genetic predisposition, early or delayed exposure to infectious diseases, and other environmental factors. The reported incidence of childhood leukemia is lower in LIC than in more prosperous countries. Registration of childhood leukemia requires recognition of symptoms, rapid access to primary and tertiary medical care (a pediatric cancer unit), a correct diagnosis, and a data management infrastructure. In LIC, where these services are lacking, some children with leukemia may die before diagnosis and registration. In this environment, epidemiologic studies would seem to be an unaffordable luxury, but in reality represent a key element for progress. Hospital-based registries are both feasible and essential in LIC, and can be developed using available training programs for data managers and the free online Pediatric Oncology Networked Data Base (www.POND4kids.org), which allows collection, analysis, and sharing of data.

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“…Michalkiewicz et al reported that patients reported from other countries rarely had been tested for constitutional or somatic TP53 mutation except Brazilian patients [13]. We recommend the patients with adrenocortical carcinoma, especially the girls to be tested for the status of TP53 gene.…”

Section: Discussionmentioning

confidence: 99%

“…Virilizing adrenal tumors show growth acceleration, deepening of voice, premature pubic and axillary hair development, and clitoral or penile enlargement. Isolated Cushing syndrome, Conn syndrome, and pure feminization occur very rarely in children [6,13,18,24].…”

Section: Introductionmentioning

confidence: 99%

Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation

Lee

Hong

et al. 2009

Eur J Pediatr

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Virilizing adrenocortical carcinoma and Turner syndrome have opposite clinical manifestations in some aspects. Here, we report on the first case of virilizing adrenocortical carcinoma in a girl with Turner syndrome. A 2 10/12-year-old girl presented pubic hair of Tanner stage III with clitomegaly, deepening of her voice, and tall stature. No other morphologic anomaly was found. Biochemical assessment revealed normal electrolytes with pronounced elevation of adrenal androgens. She was found to have a large mass of the left adrenal gland on abdominal computed tomography scan. She underwent complete resection of the mass, and pathology was consistent with adrenocortical carcinoma. She was tested for TP53 gene mutation, and we found a de novo TP53 gene mutation (Val143Ala) as well as a 45,X karyotype.

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Clinical and Outcome Characteristics of Children With Adrenocortical Tumors: A Report From the International Pediatric Adrenocortical Tumor Registry

Cited by 450 publications

References 32 publications

The p53 mutation “gradient effect” and its clinical implications

The p53 mutation “gradient effect” and its clinical implications

Childhood cancer epidemiology in low‐income countries

Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation

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