Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up.
22q11 deletion syndrome
DiGeorge
genetic syndrome
thyroid cancer
thyroid nodules
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
20
04
2023
accepted:
14
07
2023
medline:
29
8
2023
pubmed:
28
8
2023
entrez:
28
8
2023
Statut:
epublish
Résumé
The chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and impairment of the immune system due to thymic dysfunction. Other genetic syndromes, often called DiGeorge-like, share clinical and immunological features with 22q11.2 deletion syndrome. This syndrome has been rarely associated with malignancies, mainly hematological but also hepatic, renal, and cerebral. Rarely, malignancies in the head and neck region have been described, although no aggregate of data on the development of thyroid neoplasms in patients with this clinical phenotype has been conducted so far. To characterize this possible association, a multicenter survey was made. Thus, we present a case series of five pediatric patients with 22q11.2 deletion syndrome or DiGeorge-like syndrome who were occasionally found with confirmed or highly suspected neoplasms of the thyroid gland during their follow-up. In three cases, malignancies were histologically confirmed, but their outcome was good due to an early recognition of suspicious nodules and precocious surgery. This study underlines for clinicians the higher risk of neoplasms in the head and neck district for patients affected by these syndromes. It also emphasizes the importance of a prolonged clinical and ultrasound follow-up for patients with this clinical and immunological phenotype.
Identifiants
pubmed: 37635986
doi: 10.3389/fendo.2023.1209577
pmc: PMC10450035
doi:
Types de publication
Case Reports
Multicenter Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1209577Informations de copyright
Copyright © 2023 Sarli, Ricci, Lodi, Cavone, Pacillo, Giancotta, Ubertini, Baroncelli, Cancrini, Azzari and Stagi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Am J Med Genet. 1995 Oct 23;59(1):103-13
pubmed: 8849001
Eur J Pediatr. 2022 Nov;181(11):3907-3913
pubmed: 36044066
Lancet Diabetes Endocrinol. 2021 Apr;9(4):193-194
pubmed: 33662332
Urology. 2020 Mar;137:e8-e9
pubmed: 31883877
Am J Hum Genet. 1988 Nov;43(5):605-11
pubmed: 3189331
Br J Cancer. 1993 Aug;68(2):357-63
pubmed: 8347491
Arch Dis Child. 1999 Dec;81(6):513-4
pubmed: 10569971
Eur J Pediatr. 2011 Nov;170(11):1465-70
pubmed: 21833498
Cancer Genet. 2014 Sep;207(9):415-9
pubmed: 25018128
Nat Genet. 2001 Mar;27(3):286-91
pubmed: 11242110
PLoS One. 2014 Aug 01;9(8):e103884
pubmed: 25084529
Arch Dis Child. 1999 Nov;81(5):444-5
pubmed: 10519724
Front Immunol. 2019 Apr 16;10:777
pubmed: 31057537
Acta Paediatr. 2023 Jun;112(6):1312-1318
pubmed: 36867048
Front Endocrinol (Lausanne). 2020 Aug 19;11:543
pubmed: 32973676
Clin Immunol Immunopathol. 1996 Jul;80(1):9-15
pubmed: 8674245
Front Immunol. 2013 Oct 31;4:322
pubmed: 24198816
BMJ Case Rep. 2022 Mar 10;15(3):
pubmed: 35272994
J Cell Physiol. 2019 Apr;234(4):3790-3799
pubmed: 30362517
Clin Exp Immunol. 2010 Nov;162(2):271-9
pubmed: 20854328
Br J Cancer. 1995 Dec;72(6):1563-9
pubmed: 8519679
J Allergy Clin Immunol Pract. 2019 Sep - Oct;7(7):2369-2376
pubmed: 30922987
Am J Med Genet A. 2006 Apr 15;140(8):906-9
pubmed: 16532473
Clin Immunol. 2018 Mar;188:81-84
pubmed: 29292084
Genes (Basel). 2022 Aug 28;13(9):
pubmed: 36140720
Clin Immunol. 2001 Jan;98(1):54-61
pubmed: 11141327
Endocr J. 2014;61(4):311-20
pubmed: 24452016
Pediatr Pathol Mol Med. 2003 Jul-Aug;22(4):323-41
pubmed: 14692228
J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):98-101
pubmed: 26316430
J Pediatr. 2001 Nov;139(5):715-23
pubmed: 11713452
Am J Med Genet A. 2017 Jul;173(7):1913-1918
pubmed: 28436605
Pathol Res Pract. 2020 Apr;216(4):152855
pubmed: 32111443
J Med Genet. 1998 Sep;35(9):789-90
pubmed: 9733045
AACE Clin Case Rep. 2022 Feb 07;8(4):181-182
pubmed: 35959083
Eur Arch Otorhinolaryngol. 2012 Feb;269(2):381-7
pubmed: 21861138
Nat Genet. 2007 Sep;39(9):1071-3
pubmed: 17704777
Oncologist. 2019 Mar;24(3):e106-e110
pubmed: 30606882
J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):895-901
pubmed: 31271555
Am J Med Genet A. 2015 Jul;167(7):1560-4
pubmed: 25944702
Thyroid. 2016 Jan;26(1):1-133
pubmed: 26462967
Semin Cancer Biol. 2020 Aug;64:135-146
pubmed: 31158464
Laryngoscope. 2009 Aug;119(8):1495-500
pubmed: 19507237
J Clin Endocrinol Metab. 2001 Sep;86(9):4268-72
pubmed: 11549660
Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):287-295
pubmed: 34889385
Am J Med Genet A. 2018 Oct;176(10):2121-2127
pubmed: 28940864
Cytometry B Clin Cytom. 2019 May;96(3):223-233
pubmed: 30334372
Clin Endocrinol (Oxf). 2010 Jun;72(6):839-44
pubmed: 19863572
Scand J Immunol. 2007 Jul;66(1):1-7
pubmed: 17587340
PLoS One. 2014 Mar 17;9(3):e91598
pubmed: 24637876
J Clin Med. 2022 Apr 05;11(7):
pubmed: 35407632
Cytometry A. 2015 Jan;87(1):81-5
pubmed: 25132325