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Cancers (Basel). 2020 Sep 06;12(9). doi: 10.3390/cancers12092529.

DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms.

Cancers

Philippe Vielh, Zsofia Balogh, Voichita Suciu, Catherine Richon, Bastien Job, Guillaume Meurice, Alexander Valent, Ludovic Lacroix, Virginie Marty, Nelly Motte, Philippe Dessen, Bernard Caillou, Abir Al Ghuzlan, Jean-Michel Bidart, Vladimir Lazar, Paul Hofman, Jean-Yves Scoazec, Adel K El-Naggar, Martin Schlumberger

Affiliations

  1. Department of Medical Biology and Pathology, Gustave Roussy, Université Paris-Saclay and Experimental and Translational Pathology Platform, CNRS UMS3655-INSERM US23 AMMICA, 94805 Villejuif, France.
  2. Laboratory of Clinical and Experimental Pathology and Biobank, Pasteur Hospital, 06002 Nice, France.
  3. Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
  4. Department of Endocrinology, Gustave Roussy, Université Paris-Saclay, 94805 Villejuif, France.

PMID: 32899953 PMCID: PMC7564487 DOI: 10.3390/cancers12092529

Abstract

Although fine-needle aspiration cytology (FNAC) is helpful in determining whether thyroid nodules are benign or malignant, this distinction remains a cytological challenge in follicular neoplasms. Identification of genomic alterations in cytological specimens with direct and routine techniques would therefore have great clinical value. A series of 153 cases consisting of 72 and 81 histopathologically confirmed classic follicular adenomas (cFAs) and classic follicular thyroid carcinomas (cFTCs), respectively, was studied by means of different molecular techniques in three different cohorts of patients (pts). In the first cohort (training set) of 66 pts, three specific alterations characterized by array comparative genomic hybridization (aCGH) were exclusively found in half of cFTCs. These structural abnormalities corresponded to losses of 1p36.33-35.1 and 22q13.2-13.31, and gain of whole chromosome X. The second independent cohort (validation set) of 60 pts confirmed these data on touch preparations of frozen follicular neoplasms by triple DNA fluorescent in situ hybridization using selected commercially available probes. The third cohort, consisting of 27 archived cytological samples from an equal number of pts that had been obtained for preoperative FNAC and morphologically classified as and histologically verified to be follicular neoplasms, confirmed our previous findings and showed the feasibility of the DNA FISH (DNA fluorescent in situ hybridization) assay. All together, these data suggest that our triple DNA FISH diagnostic assay may detect 50% of cFTCs with a specificity higher than 98% and be useful as a low-cost adjunct to cytomorphology to help further classify follicular neoplasms on already routinely stained cytological specimens.

Keywords: array comparative genomic hybridization; fine-needle aspiration; fluorescent in situ hybridization; follicular neoplasms; indeterminate cytology; thyroid

References

  1. Genes Chromosomes Cancer. 1997 May;19(1):43-51 - PubMed
  2. Nat Rev Mol Cell Biol. 2004 Jan;5(1):45-54 - PubMed
  3. Trends Cell Biol. 2018 Jun;28(6):465-474 - PubMed
  4. Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):19075-80 - PubMed
  5. Cancer Cytopathol. 2020 Jul;128(7):435-439 - PubMed
  6. PLoS Genet. 2016 Aug 05;12(8):e1006239 - PubMed
  7. Eur J Endocrinol. 2004 Sep;151(3):367-74 - PubMed
  8. Clin Endocrinol (Oxf). 2001 Oct;55(4):543-8 - PubMed
  9. Cell. 2014 Oct 23;159(3):676-90 - PubMed
  10. JAMA Oncol. 2019 Feb 1;5(2):204-212 - PubMed
  11. N Engl J Med. 2004 Oct 21;351(17):1764-71 - PubMed
  12. Clin Cancer Res. 2004 Oct 1;10(19):6586-97 - PubMed
  13. J Natl Cancer Inst. 2018 Apr 1;110(4):371-378 - PubMed
  14. Genes Chromosomes Cancer. 1999 Aug;25(4):349-53 - PubMed
  15. N Engl J Med. 2012 Aug 23;367(8):705-15 - PubMed
  16. Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2803-8 - PubMed
  17. Acta Cytol. 2016;60(1):14-8 - PubMed
  18. J Clin Invest. 1991 Nov;88(5):1596-604 - PubMed
  19. JAMA Surg. 2018 Sep 1;153(9):817-824 - PubMed
  20. Minerva Endocrinol. 2018 Sep;43(3):285-293 - PubMed
  21. Acta Cytol. 2014;58(4):319-29 - PubMed
  22. Eur Arch Otorhinolaryngol. 2013 Jan;270(1):325-35 - PubMed
  23. J Am Coll Radiol. 2015 Dec;12(12 Pt A):1272-9 - PubMed
  24. Thyroid. 2018 Feb;28(2):158-167 - PubMed
  25. Cell. 2017 Feb 9;168(4):613-628 - PubMed
  26. Cold Spring Harb Perspect Med. 2017 Jun 1;7(6): - PubMed
  27. J Clin Endocrinol Metab. 2005 Aug;90(8):4688-93 - PubMed
  28. Cancer Cell. 2018 Apr 9;33(4):676-689.e3 - PubMed
  29. Oncotarget. 2017 Jul 25;8(30):49421-49442 - PubMed
  30. J Clin Endocrinol Metab. 2015 Jul;100(7):2743-50 - PubMed
  31. Eur Thyroid J. 2017 Jul;6(3):115-129 - PubMed
  32. J Clin Ultrasound. 2020 Mar;48(3):127-133 - PubMed
  33. Development. 2013 Jan 1;140(1):3-12 - PubMed
  34. Cancer Genet Cytogenet. 1993 May;67(1):1-6 - PubMed
  35. J Clin Endocrinol Metab. 1997 Nov;82(11):3684-91 - PubMed
  36. Adv Anat Pathol. 2017 Jan;24(1):45-55 - PubMed
  37. Cancer Cytopathol. 2020 Apr;128(4):250-259 - PubMed
  38. Nat Rev Endocrinol. 2017 Jul;13(7):415-424 - PubMed
  39. Endocr Pract. 2017 Aug;23(8):979-988 - PubMed
  40. Endocrinol Metab (Seoul). 2019 Mar;34(1):1-10 - PubMed
  41. Biomed Pharmacother. 2018 Jul;103:399-405 - PubMed
  42. Oncogene. 2011 Jul 14;30(28):3153-62 - PubMed
  43. Dev Cell. 2020 Feb 24;52(4):413-428.e6 - PubMed
  44. Thyroid. 2019 Sep;29(9):1237-1243 - PubMed
  45. Lancet Diabetes Endocrinol. 2018 Jun;6(6):500-514 - PubMed
  46. CA Cancer J Clin. 2019 Jan;69(1):7-34 - PubMed
  47. Lancet Oncol. 2019 Feb;20(2):193-201 - PubMed
  48. JAMA Oncol. 2016 Aug 1;2(8):1023-9 - PubMed
  49. Cytopathology. 2007 Apr;18(2):105-11 - PubMed
  50. J Clin Endocrinol Metab. 2008 May;93(5):1600-8 - PubMed
  51. Thyroid. 2020 Feb;30(2):237-242 - PubMed
  52. Nature. 2018 Jan 25;553(7689):467-472 - PubMed
  53. Cold Spring Harb Perspect Med. 2017 Jan 3;7(1): - PubMed
  54. Surgery. 2018 Jan;163(1):88-96 - PubMed
  55. Arch Pathol Lab Med. 2006 Feb;130(2):148-52 - PubMed
  56. Oncogene. 2004 Sep 23;23(44):7436-40 - PubMed
  57. J Clin Endocrinol Metab. 2020 May 1;105(5): - PubMed
  58. Cancer. 2018 Apr 15;124(8):1682-1690 - PubMed
  59. Histopathology. 2018 Jan;72(1):32-39 - PubMed
  60. Acta Cytol. 2011;55(6):492-8 - PubMed
  61. Histopathology. 2018 Jan;72(1):6-31 - PubMed
  62. Arch Pathol Lab Med. 2016 Dec;140(12):1338-1344 - PubMed
  63. J Clin Endocrinol Metab. 2013 Mar;98(3):E558-66 - PubMed
  64. Cancer Cytopathol. 2011 Oct 25;119(5):322-7 - PubMed
  65. Cancer. 2002 Oct 25;96(5):261-6 - PubMed
  66. Nat Rev Endocrinol. 2011 Aug 30;7(10):569-80 - PubMed
  67. Nat Genet. 2020 Mar;52(3):283-293 - PubMed
  68. Cancer Cytopathol. 2014 Apr;122(4):241-9 - PubMed
  69. JAMA Oncol. 2018 Aug 1;4(8):1125-1126 - PubMed
  70. Am J Hum Genet. 1998 Aug;63(2):625-37 - PubMed
  71. Mol Cell Endocrinol. 2016 Sep 15;433:130-7 - PubMed
  72. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2640-2650 - PubMed
  73. Genes Chromosomes Cancer. 2001 Sep;32(1):43-9 - PubMed
  74. J Pathol. 2005 Jul;206(3):305-11 - PubMed
  75. Cancer Cytopathol. 2020 Jul;128(7):470-481 - PubMed
  76. N Engl J Med. 2015 Dec 10;373(24):2347-56 - PubMed
  77. Endocr Pathol. 2011 Jun;22(2):103-7 - PubMed
  78. Cancer Res. 2004 Jun 1;64(11):3780-9 - PubMed
  79. Radiology. 2018 Jun;287(3):1082 - PubMed
  80. Cancer Epidemiol Biomarkers Prev. 2013 Jul;22(7):1252-9 - PubMed
  81. Am J Clin Pathol. 1993 Sep;100(3):231-5 - PubMed
  82. Oncol Rep. 2007 Oct;18(4):917-26 - PubMed
  83. Biostatistics. 2004 Oct;5(4):557-72 - PubMed
  84. Genes (Basel). 2019 Sep 23;10(10): - PubMed
  85. Endocr Pract. 2016 May;22(5):622-39 - PubMed
  86. Genes Chromosomes Cancer. 1998 Mar;21(3):250-5 - PubMed
  87. Int J Cancer. 1999 Jan 5;80(1):32-8 - PubMed
  88. Cancer Cell. 2018 Aug 13;34(2):242-255.e5 - PubMed
  89. Am J Pathol. 1999 May;154(5):1539-47 - PubMed
  90. Cancer Cell. 2018 Aug 13;34(2):256-270.e5 - PubMed
  91. Science. 2015 Sep 25;349(6255):1483-9 - PubMed
  92. Arch Pathol Lab Med. 2007 Jan;131(1):65-73 - PubMed
  93. Oncogene. 2005 Oct 6;24(44):6646-56 - PubMed
  94. Oncotarget. 2016 Oct 25;7(43):69638-69648 - PubMed
  95. Curr Opin Oncol. 2016 Jan;28(1):1-4 - PubMed
  96. Thyroid. 2017 Nov;27(11):1341-1346 - PubMed
  97. Cancer Genet Cytogenet. 1998 Feb;101(1):42-8 - PubMed
  98. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15044-9 - PubMed
  99. Diagn Cytopathol. 2017 May;45(5):399-405 - PubMed
  100. Cancer Cytopathol. 2018 May;126(5):317-325 - PubMed
  101. Eur Thyroid J. 2017 Sep;6(5):225-237 - PubMed
  102. Am J Clin Pathol. 2009 Nov;132(5):658-65 - PubMed
  103. Acta Cytol. 2012;56(4):333-9 - PubMed
  104. J Clin Endocrinol Metab. 1998 Feb;83(2):525-30 - PubMed
  105. N Engl J Med. 1993 Feb 25;328(8):553-9 - PubMed
  106. Cancer Cytopathol. 2016 Oct;124(10):711-721 - PubMed
  107. Eur J Endocrinol. 2018 Jul;179(1):13-20 - PubMed
  108. J Clin Endocrinol Metab. 2012 Oct;97(10):E2031-5 - PubMed
  109. Br J Cancer. 1998 Oct;78(8):1012-7 - PubMed
  110. Cancer Genet Cytogenet. 1984 Oct;13(2):181-3 - PubMed
  111. Endocr Relat Cancer. 2006 Jun;13(2):497-508 - PubMed
  112. JAMA. 2018 Mar 6;319(9):914-924 - PubMed
  113. Thyroid. 2016 Jan;26(1):1-133 - PubMed
  114. Mod Pathol. 2011 Apr;24 Suppl 2:S10-8 - PubMed
  115. J Clin Endocrinol Metab. 1998 Jun;83(6):2036-42 - PubMed
  116. Genes Chromosomes Cancer. 2003 Mar;36(3):292-302 - PubMed
  117. Surgery. 2000 Dec;128(6):888-93;discussion 893-4 - PubMed
  118. Cancer. 1985 Oct 15;56(8):2011-8 - PubMed
  119. Arch Pathol Lab Med. 2018 Apr;142(4):446-457 - PubMed
  120. J Clin Endocrinol Metab. 2001 Sep;86(9):4268-72 - PubMed
  121. N Engl J Med. 1998 Jan 29;338(5):297-306 - PubMed
  122. Mol Cancer. 2018 Aug 8;17(1):116 - PubMed
  123. Head Neck Pathol. 2009 Mar;3(1):86-93 - PubMed
  124. Thyroid. 2019 Apr;29(4):471-479 - PubMed
  125. Annu Rev Pathol. 2018 Jan 24;13:141-162 - PubMed
  126. Eur J Endocrinol. 2013 Oct 01;169(5):649-55 - PubMed
  127. Endocr Relat Cancer. 2018 Mar;25(3):R163-R177 - PubMed
  128. Int J Cancer. 1990 Jan 15;45(1):16-20 - PubMed
  129. J Natl Compr Canc Netw. 2018 Dec;16(12):1429-1440 - PubMed

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