Thyroid nodule other diagnostic studies: Difference between revisions

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*** Difficult to palpate nodules
*** Difficult to palpate nodules
*** Posteriorly located nodules
*** Posteriorly located nodules
FNA biopsy is sensitive and specific in the diagnosis of childhood thyroid nodules  
FNA biopsy is sensitive and specific in the diagnosis of childhood thyroid nodules. <ref name="pmid16778391">{{cite journal |vauthors=Chang SH, Joo M, Kim H |title=Fine needle aspiration biopsy of thyroid nodules in children and adolescents |journal=J. Korean Med. Sci. |volume=21 |issue=3 |pages=469–73 |year=2006 |pmid=16778391 |pmc=2729953 |doi=10.3346/jkms.2006.21.3.469 |url=}}</ref><ref name="pmid10640894">{{cite journal |vauthors=Hung W |title=Solitary thyroid nodules in 93 children and adolescents. a 35-years experience |journal=Horm. Res. |volume=52 |issue=1 |pages=15–8 |year=1999 |pmid=10640894 |doi=23426 |url=}}</ref>
 
J Clin Endocrinol Metab 86:4644–4648. 100. Hung W 1999 Solitary thyroid nodules in 93 children and adolescents, a 35-years experience. Horm Res 52:15–18.
 
=== Molecular marker evaluation ===
=== Molecular marker evaluation ===
The molecular marker evaluation tests are performed using samples that are collected during fine needle aspiration, from needle washings.
The molecular marker evaluation tests are performed using samples that are collected during fine needle aspiration, from needle washings.


The most important indications of the molecular markers study include indeterminate cytological diagnosis, to assist with decision making about management option (surgical treatment). The molecular tests which have the most available data are: Afirma Gene-expression Classifier, seven-gene panel of genetic mutations and rearrangements and galectin-3 immunohistochemistry.
The most important indications of the molecular markers study include indeterminate cytological diagnosis, to assist with decision making about management option (surgical treatment). The molecular tests which have the most available data are: Afirma Gene-expression Classifier, seven-gene panel of genetic mutations and rearrangements and galectin-3 immunohistochemistry.<ref name="pmid18495537">{{cite journal |vauthors=Bartolazzi A, Orlandi F, Saggiorato E, Volante M, Arecco F, Rossetto R, Palestini N, Ghigo E, Papotti M, Bussolati G, Martegani MP, Pantellini F, Carpi A, Giovagnoli MR, Monti S, Toscano V, Sciacchitano S, Pennelli GM, Mian C, Pelizzo MR, Rugge M, Troncone G, Palombini L, Chiappetta G, Botti G, Vecchione A, Bellocco R |title=Galectin-3-expression analysis in the surgical selection of follicular thyroid nodules with indeterminate fine-needle aspiration cytology: a prospective multicentre study |journal=Lancet Oncol. |volume=9 |issue=6 |pages=543–9 |year=2008 |pmid=18495537 |doi=10.1016/S1470-2045(08)70132-3 |url=}}</ref><ref name="pmid17381488">{{cite journal |vauthors=Sapio MR, Posca D, Raggioli A, Guerra A, Marotta V, Deandrea M, Motta M, Limone PP, Troncone G, Caleo A, Rossi G, Fenzi G, Vitale M |title=Detection of RET/PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings |journal=Clin. Endocrinol. (Oxf) |volume=66 |issue=5 |pages=678–83 |year=2007 |pmid=17381488 |doi=10.1111/j.1365-2265.2007.02800.x |url=}}</ref>
 
Bartolazzi A, Orlandi F, Saggiorato E, Volante M, Arecco F, Rossetto R, Palestini N, Ghigo E, Papotti M, Bussolati G, Martegani MP, Pantellini F, Carpi A, Giovagnoli MR, Monti S, Toscano V, Sciacchitano S, Pennelli GM, Mian C, Pelizzo MR, Rugge M, Troncone G, Palombini L, Chiappetta G, Botti G, Vecchione A, Bellocco R; Italian Thyroid Cancer Study Group (ITCSG) 2008 Galectin-3-expression analysis in the surgical selection of follicular thyroid nodules with indeterminate fine-needle aspiration cytology: a prospective multicentre study. Lancet Oncol 9:543–549
 
Sapio MR, Posca D, Raggioli A, Guerra A, Marotta V, Deandrea M, Motta M, Limone PP, Troncone G, Caleo A, Rossi G, Fenzi G, Vitale M 2007 Detection of RET=PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings. Clin Endocrinol (Oxf ) 66:678–683.


The Afirma gene-expression classifier (167 GEC; mRNA expression of 167 genes) evaluates for the presence of benign gene expression profile. It has a high sensitivity (92 %) and negative predictive (93 %) value but low positive predictive value and specificity (48–53 %) [68, 71]. It is used as a rule out test to identify benign nodules. A benign GEC result predicts low risk of malignancy but the nodules classified as benign still have ~5 % risk of malignancy [71, 72].
==Genetic Evaluation==
*A highly sensitive (92%) gene-expression classifier called Afirma evaluates the presence of related gene expression profiles. The low specificity of this technique (a negative predictive of 93 %, positive predictive value and specificity of 48–53 %) lead to major usage of this technique as a rule out test to identify benign nodules. A benign gene expression classifier result predicts low risk of malignancy but there is still an up to 5% chance of malignancy in the nodules classified as benign.


The seven gene mutation and rearrangement analysis panel evaluates for BRAF, NRAS, HRAS and KRAS point mutations and common rearrangements of RET/PTC and PAX8/PPARγ. It has a high specificity (86–100 %) and positive predictive value (84–100 %) but poor sensitivity (reported from 44 to 100 %) [69, 73–75]. It is being used as a rule in test for thyroid malignancy.
*The seven gene mutation and rearrangement analysis panel evaluates for BRAF, NRAS, HRAS and KRAS point mutations and common rearrangements of RET/PTC and PAX8/PPARγ. It has a high specificity (86–100 %) and positive predictive value (84–100 %) but poor sensitivity (reported from 44 to 100 %) [69, 73–75]. It is being used as a rule in test for thyroid malignancy.


==References==
==References==

Revision as of 16:48, 2 October 2017


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Other Diagnostic Studies

Fine needle aspiration

The most important diagnostic test to differentiate thyroid nodules from each other is fine needle aspiration (FNA). As FNA is considered as an aggressive procedure, the American Thyroid Association developed the following criteria for FNA indication:

  • Nodules ≥ 1 cm with intermediate or high suspicion US pattern
  • Nodules ≥ 1.5 cm with low suspicion US pattern
  • Nodules ≥ 2 cm with very low suspicion US pattern (e.g., spongiform). Observation an alternate option
  • For nodules that do not meet the above criteria, FNA is not required, including nodules < 1 cm (with some exceptions) and purely cystic nodules 26462967
  • Criteria for US-guided FNA:
    • A higher likelihood of either a nondiagnostic cytology (>25–50% cystic component)
    • A higher likelihood of sampling error
      • Difficult to palpate nodules
      • Posteriorly located nodules

FNA biopsy is sensitive and specific in the diagnosis of childhood thyroid nodules. [1][2]

Molecular marker evaluation

The molecular marker evaluation tests are performed using samples that are collected during fine needle aspiration, from needle washings.

The most important indications of the molecular markers study include indeterminate cytological diagnosis, to assist with decision making about management option (surgical treatment). The molecular tests which have the most available data are: Afirma Gene-expression Classifier, seven-gene panel of genetic mutations and rearrangements and galectin-3 immunohistochemistry.[3][4]

Genetic Evaluation

  • A highly sensitive (92%) gene-expression classifier called Afirma evaluates the presence of related gene expression profiles. The low specificity of this technique (a negative predictive of 93 %, positive predictive value and specificity of 48–53 %) lead to major usage of this technique as a rule out test to identify benign nodules. A benign gene expression classifier result predicts low risk of malignancy but there is still an up to 5% chance of malignancy in the nodules classified as benign.
  • The seven gene mutation and rearrangement analysis panel evaluates for BRAF, NRAS, HRAS and KRAS point mutations and common rearrangements of RET/PTC and PAX8/PPARγ. It has a high specificity (86–100 %) and positive predictive value (84–100 %) but poor sensitivity (reported from 44 to 100 %) [69, 73–75]. It is being used as a rule in test for thyroid malignancy.

References

  1. Chang SH, Joo M, Kim H (2006). "Fine needle aspiration biopsy of thyroid nodules in children and adolescents". J. Korean Med. Sci. 21 (3): 469–73. doi:10.3346/jkms.2006.21.3.469. PMC 2729953. PMID 16778391.
  2. Hung W (1999). "Solitary thyroid nodules in 93 children and adolescents. a 35-years experience". Horm. Res. 52 (1): 15–8. doi:23426 Check |doi= value (help). PMID 10640894.
  3. Bartolazzi A, Orlandi F, Saggiorato E, Volante M, Arecco F, Rossetto R, Palestini N, Ghigo E, Papotti M, Bussolati G, Martegani MP, Pantellini F, Carpi A, Giovagnoli MR, Monti S, Toscano V, Sciacchitano S, Pennelli GM, Mian C, Pelizzo MR, Rugge M, Troncone G, Palombini L, Chiappetta G, Botti G, Vecchione A, Bellocco R (2008). "Galectin-3-expression analysis in the surgical selection of follicular thyroid nodules with indeterminate fine-needle aspiration cytology: a prospective multicentre study". Lancet Oncol. 9 (6): 543–9. doi:10.1016/S1470-2045(08)70132-3. PMID 18495537.
  4. Sapio MR, Posca D, Raggioli A, Guerra A, Marotta V, Deandrea M, Motta M, Limone PP, Troncone G, Caleo A, Rossi G, Fenzi G, Vitale M (2007). "Detection of RET/PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings". Clin. Endocrinol. (Oxf). 66 (5): 678–83. doi:10.1111/j.1365-2265.2007.02800.x. PMID 17381488.

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