RESUMO
SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin. PRKAR1A gene was PCR amplified using genomic DNA and analyzed for sequence variants which revealed the novel mutation resulting in substitution of amino acid cysteine instead of the naturally occurring valine in the peptide chain and a premature stop codon at position 18 (V215CfsX18). This change leads to development of tumors in different organs due to lack of tumor suppressive activity secondary to failure of synthesis of the related protein.
Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Acromegalia/genética , Síndrome de Cushing/genética , Complexo de Carney/genética , Mixoma/cirurgia , Mixoma/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Irã (Geográfico) , MutaçãoRESUMO
Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin. PRKAR1A gene was PCR amplified using genomic DNA and analyzed for sequence variants which revealed the novel mutation resulting in substitution of amino acid cysteine instead of the naturally occurring valine in the peptide chain and a premature stop codon at position 18 (V215CfsX18). This change leads to development of tumors in different organs due to lack of tumor suppressive activity secondary to failure of synthesis of the related protein.
Assuntos
Acromegalia , Complexo de Carney , Síndrome de Cushing , Mixoma , Acromegalia/genética , Adulto , Complexo de Carney/genética , Síndrome de Cushing/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Feminino , Humanos , Irã (Geográfico) , Mutação , Mixoma/genética , Mixoma/cirurgia , Adulto JovemRESUMO
A rare case of intracranial haemangiopericytoma with a thrice recurrence, treated by gross total removal and local irradiation is presented. Histological examination of the tumour specimen showed haemangiopericytoma (WHO grading III). The tumour has not recurred for 15 months after third operation and 30 sessions of radiotherapy, although the effectiveness of radiation for haemangiopericytoma is unclear.
