The Gulf journal of oncology · 2025
De novo mutation of the RET proto-oncogene revealing multiple endocrine neoplasia type 2A: a sporadic case from Western Algeria.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Chami Amina, Romanet Pauline, Mohammedi Fatima, Benabadji Nadia, Habour Narimane, Derkaoui Dalia, Sahraoui Tewfik
Аннотация
BACKGROUND: Multiple endocrine neoplasia type 2A (MEN2A) is a rare autosomal dominant disorder associated with RET proto-oncogene mutations. Early diagnosis is absolutely critical for managing and preventing aggressive forms of medullary thyroid carcinoma (MTC) and associated tumours. Our aims are to confirm the clinical diagnosis and to detect, in relatives, those who bear the familial mutation in order to benefit from medical management before the first symptoms appear.
CASE PRESENTATION: We report a sporadic case of MEN2A in a 34-year-old woman from western Algeria. She presented with bilateral medullary thyroid carcinoma and a left pheochromocytoma.
RESULTS: Genetic analysis by nextgeneration sequencing revealed a de novo heterozygous c.1901G>C (p.Cys634Ser) mutation in exon 11 of the RET gene. This is a well-known pathogenic variant associated with MEN2A.
DISCUSSION: This case proves that RET genetic testing is vital in all cases of MTC, even in those without a family history, as de novo mutations can occur. The absence of this variant in the patient's first-degree relatives confirms the de novo origin, possibly linked to advanced paternal age.
CONCLUSION: Systematic genetic screening and counselling are essential for the early diagnosis and appropriate management of MEN2A, particularly in sporadic cases. Broader implementation of molecular testing and genetic counselling in Algeria is recommended to improve patient outcomes and prevent transmission to future generations.
CASE PRESENTATION: We report a sporadic case of MEN2A in a 34-year-old woman from western Algeria. She presented with bilateral medullary thyroid carcinoma and a left pheochromocytoma.
RESULTS: Genetic analysis by nextgeneration sequencing revealed a de novo heterozygous c.1901G>C (p.Cys634Ser) mutation in exon 11 of the RET gene. This is a well-known pathogenic variant associated with MEN2A.
DISCUSSION: This case proves that RET genetic testing is vital in all cases of MTC, even in those without a family history, as de novo mutations can occur. The absence of this variant in the patient's first-degree relatives confirms the de novo origin, possibly linked to advanced paternal age.
CONCLUSION: Systematic genetic screening and counselling are essential for the early diagnosis and appropriate management of MEN2A, particularly in sporadic cases. Broader implementation of molecular testing and genetic counselling in Algeria is recommended to improve patient outcomes and prevent transmission to future generations.