Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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DiGeorge syndrome who developed lymphoproliferative mediastinal mass

  • Kim, Kyu Yeun (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Hur, Ji Ae (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Kim, Ki Hwan (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Cha, Yoon Jin (Department of Pathology, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Lee, Mi Jung (Department of Radiology, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Kim, Dong Soo (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital)
  • 투고 : 2013.09.13
  • 심사 : 2013.10.31
  • 발행 : 2015.03.10
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초록

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

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참고문헌

  1. Chinnadurai S, Goudy S. Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. Curr Opin Otolaryngol Head Neck Surg 2012;20:502-6. https://doi.org/10.1097/MOO.0b013e328359b476
  2. Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci 2012;69:17-27. https://doi.org/10.1007/s00018-011-0842-z
  3. Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am 2008;28:353-66. https://doi.org/10.1016/j.iac.2008.01.003
  4. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924-33.
  5. Yu S, Graf WD, Shprintzen RJ. Genomic disorders on chromosome 22. Curr Opin Pediatr 2012;24:665-71. https://doi.org/10.1097/MOP.0b013e328358acd0
  6. Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, et al. Prevalence of primary immunodeficiency in Korea. J Korean Med Sci 2012;27:788-93. https://doi.org/10.3346/jkms.2012.27.7.788
  7. Pongpruttipan T, Cook JR, Reyes-Mugica M, Spahr JE, Swerdlow SH. Pulmonary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue associated with granulomatous inflammation in a child with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Pediatr 2012;161:954-8. https://doi.org/10.1016/j.jpeds.2012.07.003
  8. Sabattini E, Bacci F, Sagramoso C, Pileri SA. WHO classification of tumours of haematopoietic and lymphoid tissues in 2008: an overview. Pathologica 2010;102:83-7.
  9. Filipovich AH, Mathur A, Kamat D, Kersey JH, Shapiro RS. Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency 1994;5:91-112.
  10. O'Byrne KJ, Dalgleish AG. Chronic immune activation and inflammation as the cause of malignancy. Br J Cancer 2001;85:473-83. https://doi.org/10.1054/bjoc.2001.1943
  11. Dawling S, Roodi N, Mernaugh RL, Wang X, Parl FF. Catechol-O-methyltransferase (COMT)-mediated metabolism of catechol estrogens: comparison of wild-type and variant COMT isoforms. Cancer Res 2001;61:6716-22.

피인용 문헌

  1. Risk of malignancy in 22q11.2 deletion syndrome vol.5, pp.4, 2017, https://doi.org/10.1002/ccr3.880
  2. Primary Immunodeficiency and Cancer in Children; A Review of the Literature vol.15, pp.4, 2015, https://doi.org/10.2174/1573396315666190917154058