Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

Abstract

Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11 and was diagnosed with BWS. When the patient was 9 months old, a 2.5×1.5 cm oval hypoechoic exophytic mass was detected in the inferior tip of his right liver. Preoperative imaging identified it as hepatoblastoma; however, histologic, immunohistochemistry, and electron microscopic findings were compatible with adrenal cortical neoplasm with uncertain malignant potential. The origin of the adrenal tissue seemed to be heterotopic. Here, we describe for the first time an adrenal cortical neoplasm with uncertain malignant potential arising in the heterotopic adrenal cortex located in the liver of a patient with BWS.

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment

“…In our series, inhibin-a was negative in three cases and had weak focal expression (occasional cells) in two cases. Focal immunoreactivity for inhibin-a was also seen in heterotopic ACT in a patient with BWS (29). However, the clinical and pathological significance of immunoreactivity for inhibin a remains unclear.…”

“…A diversity of adrenal gland lesions is observed in BWS, including adrenal hyperplasia, hemorrhage, cysts, neuroendocrine tumors, neuroblastoma, hemangioendothelioma, ovarian thecal metaplasia, and adrenal cortical tumors (adenoma and carcinoma) (28). Moreover, ectopic adrenal tissue (29) has been found in liver, renal hilum, and spinal cord. A panel of markers (CD56, vimentin, melan-A, inhibin-a, synaptophysin, chromogranin and SF-1) are used to establish the origin of adrenal tumors (30,31).…”

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

“…In large worldwide cohorts (total: 2,256), where tumor type has been correlated with molecular subtypes, the following tumor types have been identified in UPD(11)pat (79/346): 31 Wilms tumors, 22 hepatoblastomas, 8 adrenocortical carcinomas, 5 neuroblastomas, 3 pheochromocytomas, 3 nephroblastomas, 2 leukemias, 1 ganglioneuroma, 1 hemangiotelioma, 1 myopepithelial cell carcinoma, 1 pancreatoblastoma, and 1 rhabdomyosarcoma (Alsultan et al, 2008 ; Bliek et al, 2004 ; Brioude et al, 2013 ; Cöktü et al, 2020 ; Eltan et al, 2020 ; Gaston et al, 2001 ; Hertel et al, 2003 ; H’mida Ben‐Brahim et al, 2015 ; Ibrahim et al, 2014 ; Kim et al, 2019 ; Maas et al, 2016 ; Mussa, Molinatto, et al, 2016 ; Mussa, Russo, et al, 2016 ; Sasaki et al, 2007 ; Weksberg et al, 2001 ; Wijnen et al, 2012 ; Table 3 ). This underlines the great variability of tumor types in this molecular subtype.…”

“…Adrenocortical tumors were also reported in five studies by IC2‐LOM with pauci‐symptomatic presentation and described in UPD(11)pat in large studies where the phenotype was not well reported (Alsultan et al, 2008 ; Bliek et al, 2004 ; Brioude et al, 2013 ; Cöktü et al, 2020 ; Eltan et al, 2020 ; Gaston et al, 2001 ; Hertel et al, 2003 ; H’mida Ben‐Brahim et al, 2015 ; Ibrahim et al, 2014 ; Kim et al, 2019 ; Maas et al, 2016 ; Mussa, Molinatto, et al, 2016 ; Mussa, Russo, et al, 2016 ; Sasaki et al, 2007 ; Weksberg et al, 2001 ; Wijnen et al, 2012 ; Table 3 ). Kim et al described a patient with hemihypertrophy and macroglossia related to UPD(11)pat.…”

“…Kim et al described a patient with hemihypertrophy and macroglossia related to UPD(11)pat. At 9 months, he developed an adrenocortical tumor of uncertain malignant potential occurring in the heterotopic adrenal cortex of liver (Kim et al, 2019 ). The age at diagnosis of the adrenocortical tumor was similar in the study of Cöktü et al (Cöktü et al, 2020 ).…”