Peripheral primitive neuroectodermal tumor associated with paraneoplastic Cushing's syndrome: The rare case

Abstract

IntroductionPrimitive neuroectodermal tumors (PNET) form a group of tumors defined by their appearance that are thought to develop from primitive (undifferentiated) nerve cells in the brain. They are rare tumors and their incidence is not well defined.Case presentationAn 18-month-old male presenting with typical Cushingoid appearance (moon face, central obesity, hirsutism and growth arrest) was admitted for evaluation of endocrine problems. Subsequent laboratory studies revealed markedly elevated adrenocorticotropic (ACTH) and cortisol levels, as well as a hypokalemic metabolic alkalosis, these data are consistent with the diagnosis of Cushing's disease. He was treated with metyrapone to control hypercortisolemia. One month and a half later, a mass was detected in the abdomen by ultrasonography. An abdominal Computed tomography confirmed a large heterogeneous retroperitoneal mass with a significant amount of extension into surrounding structures which was removed by laparoscopic abdominal surgery. The patient's symptoms completely resolved and the ACTH and cortisol levels were also greatly reduced. Histologically, the tumor tissue consistent with the diagnosis of the retroperitoneal primitive neuroectodermal tumor which was confirmed immunohistochemically. This case demonstrates the successful diagnosis and treatment of a rare neoplasm.ConclusionThis is the first rare case with ectopic ACTH syndrome caused by the peripheral primitive neuroectodermal tumor.

Rare case of renal Ewing sarcoma presenting as ectopic Cushing syndrome in a 12-year-old girl

“…In this case, the patient presented with features of CS and was evaluated accordingly. There has been only one previous case report of an 18-month-old patient with similar features which was found to be PNET on evaluation 9. In our patient on confirmation of CS, the high ACTH pointed towards Cushing disease (CD) or ectopic ACTH secretion.…”

Metastatic Biphasic Primitive Tumor in the Mandible of a Child

“…40 Rahbar et al presented a case of Cushing's syndrome due to adrenocorticotropic-secreting peripheral PNET. 41 de Souza Azevedo et al reported of synchronous orofacial granulomatosis associated with MEC, however, the identification of associated pathological processes as a PNS is difficult depending on the constancy shown in a series of cases. Such large casuistic is difficult to obtain in rare tumors.…”

Primitive Neuroectodermal Tumour Invading the Inferior Vena Cava

“…PNETs belong to the Ewing sarcoma family of tumours (ESFTs), which was first described in 1921 by James Ewing from the case of a 14-year-old female with a malignant bone tumour composed of small round cells [ 9 ] . PNETs are considered to be highly malignant tumours composed of small round cells originating from neuroectodermal tissue that attack the central nervous system or peripheral organs, varying in clinical presentation based on the origin of the tumour [ 10 ] . Usually, radiological and pathological work-ups are associated with misdiagnosis [ 11 ] .…”