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Related Experiment Video

Updated: Jul 31, 2025

In Vivo Model for Testing Effect of Hypoxia on Tumor Metastasis

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Published on: December 9, 2016

PROPROTEIN CONVERTASE 1/3 DEFICIENCY WITH PELVIC EWING SARCOMA.

H Oral¹, D C Guven², D Ateş Özdemir³

¹Department of Internal Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Acta Endocrinologica (Bucharest, Romania : 2005)

|May 8, 2023

Summary

Proprotein convertase 1/3 (PC 1/3) deficiency, a rare metabolic disorder, was diagnosed in a patient who also developed pelvic Ewing's sarcoma. This case highlights the need to investigate potential links between rare metabolic conditions and cancer risk.

Area of Science:

Endocrinology
Oncology
Genetics

Background:

Proprotein convertase 1/3 (PC 1/3) deficiency is a rare autosomal recessive disorder linked to PCSK1 gene mutations.

Keywords:

Ewing’s sarcoma Proprotein convertase 1/3 deficiency endocrinopathy obesity

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It presents with early-onset malabsorption, obesity, and multiple hormonal deficiencies.

Ewing's sarcoma is a rare neuroectodermal tumor often challenging to diagnose.