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

Ko, Jung-Hee; Lee, Hyo Sung; Hong, Jeong Sook; Hwang, Jin Soon

doi:10.1007/s00431-009-1051-8

Cited by 7 publications

(4 citation statements)

References 27 publications

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“…IGF2 overexpression and down‐regulation of CDKN1C and H19 can also occur in sporadic adrenocortical tumours . Carcinomas have been found to show higher expression of IGF2, MALD2L1 and CCNB1 and lower expression of ABLIM1, NAV3, SEPT4 and RPRM than adenomas . The Wnt–β‐catenin pathway is activated in both adrenocortical adenomas and carcinomas, and β‐catenin activation is associated with decreased survival in adrenocortical carcinomas .…”

Section: Genetic Abnormalitiesmentioning

confidence: 99%

Challenges in surgical pathology of adrenocortical tumours

Erickson

2017

Histopathology

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Adrenocortical carcinomas are rare tumours that can be diagnostically challenging. Numerous multiparametric scoring systems and diagnostic algorithms have been proposed to differentiate adrenocortical adenoma from adrenocortical carcinoma. Adrenocortical neoplasms must also be differentiated from other primary adrenal tumours, such as phaeochromocytoma and unusual primary adrenal tumours, as well as metastases to the adrenal gland. Myxoid, oncocytic and sarcomatoid variants of adrenocortical tumours must be recognized so that they are not confused with other tumours. The diagnostic criteria for oncocytic adrenocortical carcinoma are different from those for conventional adrenocortical carcinomas. Adrenocortical neoplasms in children are particularly challenging to diagnose, as histological features of malignancy in adrenocortical neoplasms in adults may not be associated with aggressive disease in the tumours of children. Recent histological and immunohistochemical studies and more comprehensive and integrated genomic characterizations continue to advance our understanding of the tumorigenesis of these aggressive neoplasms, and may provide additional diagnostic and prognostic utility and guide the development of therapeutic targets.

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Section: Genetic Abnormalitiesmentioning

confidence: 99%

Challenges in surgical pathology of adrenocortical tumours

Erickson

2017

Histopathology

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“…[12–14] There was no development of either acne or facial hair in this group of patients till the age of nine years, in spite of continuing androgen exposure.…”

Section: Discussionmentioning

confidence: 91%

Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

Kulshreshtha

Eunice

Ammini

2012

Indian J Endocr Metab

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Introduction:Children with congenital adrenal hyperplasia (CAH) provide us an opportunity to study the clinical effects of androgen excess in humans. We studied the sequence of pubertal development in girls with congenital adrenal hyperplasia initiated on treatment at different ages, to assess the effects of androgen exposure on the Hypothalamic-Pituitary-Ovarian (HPO) axis.Materials and Methods:Girls more than 18 years of age, with CAH, on follow-up at this hospital were the subjects for this study. Details of history, physical findings, laboratory evaluation, and medication were noted from their case records and verified from the patients and their / parents, in addition to assessment of their present health status.Result:We studied 24 patients of classical CAH (SW-2, SV-22, average age – 24.5 ± 6.6 years). All had varying degrees of genital ambiguity (Prader stage 3 (n = 13), Prader stage 2 (n = 10), Prader stage 1 (n = 1). Among them were13 girls, who were started on steroids after eight years of age. Girls who received treatment from infancy and early childhood had normal pubertal development (mean age at menarche 11.4 ± 1.7 years). Hirsutism was not a problem among them. Untreated children had progressive clitoral enlargement throughout childhood, developed pubic hair at around three to six years of age, and facial hair between nine and eleven years. Plasma testosterone ranged from 3 to 6 ng / ml prior to treatment. Six of the 13 untreated CAH girls had subtle breast development starting at ages 11 – 16 years and three had spontaneous infrequent vaginal bleeding starting at ages 11 – 17. Steroid supplementation initiated pubertal changes in older girls in two-to-six months’ time.Conclusion:There was a delay in HPO axis maturation (as evidenced by delayed pubertal development) in the absence of treatment in girls with CAH. This could be corrected with steroid supplementation.

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“…Among them, 3 cases reported treatment modalities and prognoses of ACC [ 14 , 17 , 18 ]. Another was about virilizing ACC in Turner syndrome with a TP53 gene mutation, and the last was a case of virilizing adrenocortical oncocytoma with borderline malignancy potential based on the Lin-Weiss-Bisceglia criteria [ 19 , 20 ]. None of these previous cases had MEN1 mutation, which makes the present case the first report of childhood ACC with MEN1 mutation in Korea.…”

Section: Discussionmentioning

confidence: 99%

Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report

Kim

Lee

Cho

et al. 2022

Ann Pediatr Endocrinol Metab

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Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are factors closely related to the prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes. In this report, we present the case of a 3-year-old girl who initially presented with symptoms of precocious puberty and was later found to have ACC by imaging analysis. On genetic analysis, the patient was found to have a MEN1 gene mutation. MEN1 mutations are found in patients with multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. Although MEN1 mutation is usually inherited in an autosomal dominant manner, neither of the patient's parents had the same mutation, making her a case of sporadic MEN1 mutation with initial presentation of ACC. The clinical course and further investigations of this patient are discussed in detail in this report.

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

Cited by 7 publications

References 27 publications

Challenges in surgical pathology of adrenocortical tumours

Challenges in surgical pathology of adrenocortical tumours

Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report

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