Inherited alpha-1 antitrypsin deficiency and chondrosarcoma: A possible causal relationship

Danielius Serapinas, Rūta Strazdaitė, Kotryna Linauskienė, Skaidrius Miliauskas, Raimundas Sakalauskas

Research output: Contribution to journalArticle

Abstract

Alpha 1-antitrypsin deficiency is a genetic risk factor for manifestation of COPD and chronic liver diseases. There is an ongoing worldwide discussion concerning the role of serpins (serine protease inhibitors) in tumour genesis. Protease inhibitors such as alpha 1-antitrypsin have generally been considered to counteract tumour progression and metastases because of their ability to inhibit proteases. In this case report, we analyze relationship between inherited alpha-1 antitrypsin deficiency and chondrosarcoma. A 47-year-old woman was admitted to the hospital with relapse signs of humerus chondrosarcoma. The patient had also a history of COPD. After chest X-ray and CT, alpha 1-antitrypsin deficiency was suspected. Inherited alpha-1 antitrypsin deficiency (PiZZ homozygous genotype) was confirmed. Alpha 1-antitrypsin deficiency might have facilitated the development of chondrosarcoma. Because of low incidence rate of such diseases, we presume that there is a slight chance for such rare disorders to manifest concurrently in the same patient.
Original languageEnglish
Pages (from-to)74-77
JournalBiologija
Volume56
Issue number1-4
Publication statusPublished - 2010

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Keywords

  • Alpha-1 Antitrypsin deficiency
  • Chondrosarcoma

Cite this

Serapinas, D., Strazdaitė, R., Linauskienė, K., Miliauskas, S., & Sakalauskas, R. (2010). Inherited alpha-1 antitrypsin deficiency and chondrosarcoma: A possible causal relationship . Biologija, 56(1-4), 74-77.