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Home > Vol 39, No 6 (2021) > Aungkawattanapong

A study of the TP53 Germline Mutation and Clinicopathologic Features in Thai Children with Adrenocortical Carcinoma

Nadvadee Aungkawattanapong, Piti Techavichit, Supanun Lauhasurayotin, Kanhathai Chiengthong, Darintr Sosothikul, Chalinee Monsereenusorn, Vichit Supornsilchai, Kanya Suphapeetiporn, Chinachote Teerapakpinyo, Shanop Shuangshoti

Abstract

Objective: To determine the clinicopathologic features and germline tumor protein p53 (TP53) mutation in children with adrenocortical carcinoma (ACC).
Material and Methods: This was a retrospective study. From 2009 to 2018, children with ACC from King Chulalongkorn Memorial Hospital and Phramongkutklao Hospital were enrolled into the study. Clinical presentations and hormonal profiles were recorded. Mutation analyses of the TP53 gene were acquired using the next-generation-sequencing method which was performed for germline samples of all patients and the parents of those who tested positive.
Result: Two males and six females with ACC were enrolled into this study. The median age at diagnosis was 25.5 months (range 10 to 67 months). All participants had virilization, either virilization only (n=3) or associated with Cushing (n=5). All participants had had surgery to completely remove all of the tumor and three participants had received adjuvant chemotherapy consisting of etoposide, doxorubicin, and cyclophosphamide. All participants had three different known mutations in the TP53 gene: c.1010G>A (p.R337H), c.916C>T (p.R306*) and c.743G>A (p.R248Q). Two of the three participants with TP53 mutations had pulmonary metastasis. One participant had wild-type TP53 and pulmonary recurrence occurred one year after diagnosis. The median follow-up time was 31 months (range 10 to 168 months. As of this writing, seven participants survived without evidence of recurrence. No second malignancy was found in all participants. One participant who had c.916C>T died of pulmonary metastasis 10 months after diagnosis.
Conclusion: We successfully identified three different germline TP53 mutations in patients with ACC. Progression to pulmonary metastasis and recurrence were higher among participants with TP53 mutations. The treatment outcome of childhood ACC was good when surgery and adjuvant chemotherapy were used.

 Keywords

Adrenocortical carcinoma; children; Germline mutation; Hereditary; Li- Fraumeni syndrome; TP53

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References

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DOI: http://dx.doi.org/10.31584/jhsmr.2021810

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About The Authors

Nadvadee Aungkawattanapong
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Piti Techavichit
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Supanun Lauhasurayotin
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Kanhathai Chiengthong
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Darintr Sosothikul
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Chalinee Monsereenusorn
Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Ratchatewi, Bangkok 10400,
Thailand

Vichit Supornsilchai
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Kanya Suphapeetiporn
Clinical Research for Holistic Management in Pediatric Hematological and Oncology, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Chinachote Teerapakpinyo
Chula GenePro Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

Shanop Shuangshoti
Department of Pathology, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Pathumwan, Bangkok 10330,
Thailand

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