Management of adrenal masses in patients with Beckwith–Wiedemann syndrome

MacFarland, Suzanne P.; Mostoufi‐Moab, Sogol; Zelley, Kristin; Mattei, Peter; States, Lisa J.; Bhatti, Tricia R.; Duffy, Kelly A.; Brodeur, Garrett M.; Kalish, Jennifer M.

doi:10.1002/pbc.26432

Cited by 25 publications

(24 citation statements)

References 52 publications

(102 reference statements)

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“…A total of 139 patients were included for analysis. To our knowledge, only 32 of these patients have previously been reported (Kalish et al, ; MacFarland et al, , ; Peterson et al, ; Tong et al, ). Characteristics about diagnosis including the age at diagnosis and indications for diagnosis were evaluated for differences between the three groups (Caucasian, Mixed, non‐Caucasian) within the current cohort.…”

Section: Resultsmentioning

confidence: 94%

Beckwith–Wiedemann syndrome in diverse populations

Duffy

Sajorda

et al. 2019

American J of Med Genetics Pt A

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Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non-Caucasian groups. These results suggest that clinical features and molecular diagnoses differ between race/ethnicity groups and raise the possibility of race and ethnicity effects on genotype-phenotype correlations in BWS. K E Y W O R D SBeckwith-Wiedemann syndrome, diverse populations, imprinting, methylation, overgrowth, race

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Section: Resultsmentioning

confidence: 94%

Beckwith–Wiedemann syndrome in diverse populations

Duffy

Sajorda

et al. 2019

American J of Med Genetics Pt A

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“…This increased risk of adrenal neoplasm has been related to the over-expression of insulin-like growth factor 2 (IGF2) in BWS. Increased expression of this major growth regulator has also been linked to abnormal fetal adrenal development [5].…”

Section: Discussionmentioning

confidence: 99%

Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome

Elnaw

Abdalla

Abdullah

2019

Int J Pediatr Endocrinol

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BackgroundWe report a case of right adrenocortical adenoma in a girl with features suggestive of Beckwith Wiedemann syndrome to show the importance of tumor surveillance in patients with Beckwith Wiedemann syndrome.Case presentationA 4-years-old female with features suggestive of Beckwith-Wiedemann syndrome presented with 9 months history of virilization. Hormonal investigations results showed high levels of testosterone (2.3 ng/ml, normal values 0.1–0.4 ng/ml), and DHEAS (73 ng/ml normal values 1-6 ng/ml) with normal cortisol level. Computed tomography revealed a right adrenal mass. She underwent right adrenalectomy. Histopathological examination of the resected adrenal gland showed adrenocortical adenoma. Her postoperative evaluation showed a normal testosterone level.ConclusionAdrenocortical neoplasms though rare in children are well documented in Beckwith-Wiedemann syndrome patients. So tumor surveillance protocol should be employed, even in a resource-limited setting for early tumor detection and a better outcome.

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“…BWS is characterized by hemihypertrophy, macroglossia, macrosomia, organomegaly, hyperinsulinism, omphalocele/umbilical hernia as well as by the risk of developing embryonal tumors [18]. In particular, the overall risk of intra-abdominal tumor development is between 5 and 10% [19] and the most associated tumors in BWS are the Wilms tumor, hepatoblastoma, neuroblastoma and ACC [20].…”

Section: Molecular Basis Of Adrenocortical Carcinoma: a Lesson From Fmentioning

confidence: 99%

Medical Approaches in Adrenocortical Carcinoma

et al. 2020

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Adrenocortical carcinoma (ACC) represents one of the most aggressive endocrine tumors. In spite of a correct therapeutic strategy based on a multidisciplinary approach between endocrinologist, surgeon and oncologist, the prognosis is often poor. Surgery is the mainstay treatment in ACC. Mitotane, a dichloro-diphenyl-trichloro-ethane derivate, represents the main medical treatment of ACC in consideration of its adrenocytolitic activity and it is mainly employed as adjuvant treatment after complete surgical resection and for the treatment of advanced ACC. However, the use of mitotane as adjuvant therapy is still controversial, also in consideration of the retrospective nature of several studies. The recurrence of disease is frequent, especially in advanced disease at the diagnosis. Therefore, in these contexts, conventional chemotherapy must be considered in association with mitotane, being the combination etoposide, doxorubicin and cisplatin (EDP) the standard of care in this setting. A more modern therapeutic approach, based on the need of a salvage therapy for advanced ACC that progresses through first-line EDP, is focused on molecular-targeted therapies. However, robust clinical trials are necessary to assess the real efficacy of these treatments.

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Management of adrenal masses in patients with Beckwith–Wiedemann syndrome

Cited by 25 publications

References 52 publications

Beckwith–Wiedemann syndrome in diverse populations

Beckwith–Wiedemann syndrome in diverse populations

Adrenocortical adenoma in a Sudanese girl with Beckwith-Wiedemann syndrome

Medical Approaches in Adrenocortical Carcinoma

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