CASE 18159 Published on 13.06.2023
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Adrenocortical carcinoma associated with Li-Fraumeni syndrome

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

Arenós J., Riaza L., Riera L., Coma A., Piqueras J. Vázquez E.

Department of Radiology, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain

Connected authors
Patient

12 months, female

Categories
Area of Interest Oncology, Paediatric, Veins / Vena cava ; Imaging Technique MR, Ultrasound, Ultrasound-Colour Doppler
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Clinical History

A 12-month-old girl, diagnosed with Li-Fraumeni syndrome, attends our centre for the study of three months of progressive virilization. No other relevant pathological medical history.

Imaging Findings

- Ultrasound: Voluminous left hypoechogenic solid mass located in suprarenal space containing small hyperechogenic foci, corresponding to parenchymal calcification. The left kidney does not seem to be infiltrated by the lesion (Figure 1). A tubular structure arising from the lesion (Figure 2) and communicating with the left renal vein and the inferior vena cava (IVC), which seems to be the suprarenal vein, is occupied with echogenic endoluminal material, suggesting vascular invasion and/ or thrombosis extending to IVC (Figures 3 and 4).

- MR:   Well-defined voluminous mass in the left suprarenal space is confirmed, showing homogeneous iso T1-WI and high T2-WI signal compared to muscle. Small foci of parenchymal calcification are visualized hypointense in all sequences. Vascular occupation extending to the  IVC is confirmed (Figures 5 and 6). In diffusion-weighted sequences, the lesion had no evident tissular restriction, which makes the diagnosis of neuroblastoma less probable (Figure 7).

Discussion

Background

Assessment of suprarenal lesions in children is challenging owing to the wide range of benign, malignant and pseudotumors that can be found in suprarenal fossa. A proper radiologic approach should consider all the potential lesions and be able to find differential features of each one in order to make a correct diagnosis [1].

The most frequent tumor encountered in suprarenal fossa in children is, by far, neuroblastoma, and with much lower frequency the adrenocortical carcinoma (ACC), pheochromocytoma, adrenal cysts, adenomas, myelolipomas, abscesses and hematomas [2], the last ones being more frequent in neonates due to peripartum stress [3].

Clinical Perspective

Suprarenal masses are usually only noticed when acquire a significant size presenting with abdominal pain and palpable mass [1].  Adrenal gland hyperplasia and ACC are often accompanied by virilization phenomena (and pseudoprecocious puberty in case of ACC) due to androgen production [1,2]. Pheochromocytoma clinically cause symptoms related to excessive catecholamine secretion, including hypertension and cardiac arrhythmias [1,3]. Neuroblastoma either presents due to the mass effect of tumour, the diffuse and extensive metastasis in bone marrow (often misinterpreted as osteomyelitis) or paraneoplastic symptoms [1].

Imaging Perspective

US is the primary modality for imaging the pediatric abdomen. CT or MRI are used for lesion characterization, to determine the relationship to adjacent tissues, and to differentiate benign from malignant masses after initial US evaluation [2,3].

Radiological findings that suggest the diagnosis of AC are size of tumour>8.5 cm, heterogeneous structure, heterogeneous contrast enhancement, presence of haemorrhage, necrosis, intratumoral calcifications, local invasion and distant metastasis [2,3].

On the other side, neuroblastoma is characterized by the presence of multiple small calcifications (when present) and growth pattern (encasement of vessels, lifting of the aorta and spinal canal invasion).

The most common sites for adrenocortical carcinoma metastases are lungs, liver, and lymph nodes [2,3].

Outcome

ACC constitutes less than 1% of malignancies in childhood and it is strongly associated with Li-Fraumeni syndrome [2].

The prognosis of pediatric ACC is poor with a 5-year event-free survival of 54%.  [4].

Treatment includes surgery, as well as systemic chemotherapy [3,5].

Take Home Message

  • Radiologists must be familiar with the different lesions that can be found in the suprarenal fossa in children, the most frequent being the adrenal neuroblastoma.
  • Neuroblastoma usually encases vascular structures, and invasion of them should raise suspicion of an alternative diagnosis.
  • ACC is a rare suprarenal tumour especially suggested by the clinical picture ( virilization and early puberty in children and strongly associated with Li-Fraumeni syndrome), with non-specific aggressive/ infiltrative imaging features (vascular thrombus should raise the concern of it).

 Written informed patient consent for publication has been obtained.

Differential Diagnosis List
Adrenocortical carcinoma associated with vascular invasion
Adrenal neuroblastoma
Adrenal pheochromocytoma
Adrenal adenoma
Wilms tumor
Final Diagnosis
Adrenocortical carcinoma associated with vascular invasion
Case information
URL: https://eurorad.org/case/18159
DOI: 10.35100/eurorad/case.18159
ISSN: 1563-4086
License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Figure 1

Gray-scale US evidences a voluminous hypoechogenic mass in the left suprarenal space contacting and displacing downwards ipsi
Gray-scale US evidences a voluminous hypoechogenic mass in the left suprarenal space contacting and displacing downwards ipsilateral kidney (green arrow). A small hyperechogenic foci, corresponding to parenchymal calcification, is marked with red arrow. Note that the tumour seems to contact but not to arise from the kidney (absence of the ‘claw’ sign), making improbable the diagnosis of Wilms tumour
High-resolution gray-scale US better illustrates tumour echogenicity, showing hypoechogenic intralesional areas suggestive of
High-resolution gray-scale US better illustrates tumour echogenicity, showing hypoechogenic intralesional areas suggestive of necrotic component (yellow arrow)
Figure 2

Gray-scale US evidences a tubular structure arising from the suprarenal mass (yellow arrow), corresponding to the suprarenal
Gray-scale US evidences a tubular structure arising from the suprarenal mass (yellow arrow), corresponding to the suprarenal vein, with echogenic endoluminal content, suggesting invasion or thrombosis of itself
Figure 3

Gray-scale US of the upper abdomen showing an axial sectional image of the liver, reveals partial occupation of the retrohepa
Gray-scale US of the upper abdomen showing an axial sectional image of the liver, reveals partial occupation of the retrohepatic IVC by echogenic content (yellow asterisk), suggesting invasion/ thrombosis of itself
Color-doppler US confirms luminal occupation, with only partial IVC permeability (green arrow), and minimal doppler signal in
Color-doppler US confirms luminal occupation, with only partial IVC permeability (green arrow), and minimal doppler signal inside the endoluminal echogenic material (red arrow), which makes the diagnosis of vascular tumoral invasion more likely
Figure 4

Axial T1-WI MR depicts the suprarenal mass already identified with the US, isointense compared to muscle
Axial T1-WI MR depicts the suprarenal mass already identified with the US, isointense compared to muscle
In T2-WI MR, the mass shows mild heterogeneous hyperintense signal compared with muscle, well-defined margins and a tubular e
In T2-WI MR, the mass shows mild heterogeneous hyperintense signal compared with muscle, well-defined margins and a tubular extension into the left renal vein, which crosses the midline (yellow arrow). The mass displaces the pancreatic tail forwards (orange arrow)
Axial T2-WI MR with fat saturation better illustrates the small hyperintense foci suggesting necrosis (green arrow)
Axial T2-WI MR with fat saturation better illustrates the small hyperintense foci suggesting necrosis (green arrow)
Figure 5

Coronal T2-WI MR better shows the mass effect towards the spleen, compressed and displaced upwards (red arrow), and towards t
Coronal T2-WI MR better shows the mass effect towards the spleen, compressed and displaced upwards (red arrow), and towards the left kidney, horizontalised and displaced downwards (orange arrow). There is also evidence of the retrohepatic IVC occupation (yellow arrow) and the areas of central necrosis (red arrow)
Coronal STIR MR shows small hypointense foci of probable calcification (blue arrows). Note the thin hypointense capsule divid
Coronal STIR MR shows small hypointense foci of probable calcification (blue arrows). Note the thin hypointense capsule dividing the suprarenal mass from the kidney, confirming no infiltration (purple arrow)
Figure 6

Diffusion-Weighted Imaging (DWI) shows mild hyperintensity of the suprarenal mass and its vascular extension into left suprar
Diffusion-Weighted Imaging (DWI) shows mild hyperintensity of the suprarenal mass and its vascular extension into left suprarenal and renal veins and IVC
Apparent Coefficient Diffusion (ADC) map shows hypointensity of the mass (ADC value around 0.8), which is normally higher tha
Apparent Coefficient Diffusion (ADC) map shows hypointensity of the mass (ADC value around 0.8), which is normally higher than expected for an NBL
Figure 7

Axial contrast-enhanced FS T1-WI illustrates a heterogeneous enhancement of the mass and occupation of VCI by solid enhancing
Axial contrast-enhanced FS T1-WI illustrates a heterogeneous enhancement of the mass and occupation of VCI by solid enhancing tissue with multiple internal flow-voids corresponding to small vessels (yellow arrows)