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1. Internal Medicine I > 11. Thyroid nodules and cancer > Flashcards

11. Thyroid nodules and cancer Flashcards

1
Q

What are the types of thyroid tumors?

A
  • Benign (Follicular adenoma, Harthle cell adenoma)
  • Malignant (Papillary cc., Follicular cc., Medullary cc., Anaplastic cc.,
  • Others : Fibrosarcoma, lymphoma, teratoma, mets
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2
Q

What is the incidence of thyroid nodules in the population?

A

4-7% of the population has palpable nodules.

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3
Q

What is the likelihood of solitary cold nodules being malignant?

A

5-10% of solitary cold nodules are malignant.

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4
Q

What factors are considered in determining the likelihood of a thyroid nodule becoming malignant?

A
  • Patient’s history,
  • characteristics of the nodule,
  • other symptoms (hyperthyroid/hypothyroid, compression),
  • family history,
  • neck irradiation
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5
Q

What is the probability of cancer in the presence of microcalcification in a thyroid nodule?

A

The probability of cancer is 70% in the presence of microcalcification.

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6
Q

What is the gold standard for thyroid nodule evaluation?

A

Fine needle aspiration biopsy (FNAB).

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7
Q

What is the diagnostic approach for thyroid nodule evaluation?

A

History and physical exam, ultrasound, cytology, and genetic tests.

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8
Q

What is the most common histological type of thyroid malignancy?

A

Papillary thyroid carcinoma (PTC).

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9
Q

What percentage of all thyroid malignancies does PTC comprise?

A

60-80%.

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10
Q

What percentage of PTC cases have somatic mutations?

A

More than 40-70%.

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11
Q

What is the second most common histological type of thyroid malignancy?

A

Follicular thyroid carcinoma (FTC).

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12
Q

What percentage of all thyroid malignancies does FTC comprise?

A

10-15%.

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13
Q

What percentage of FTC cases have mutations?

A

30-50%.

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14
Q

What is the main genetic alteration found in PTC?

A

BRAF

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15
Q

What is the correlation between BRAF mutation and tumor aggressivity in PTC?

A

BRAF mutation is thought to correlate with extrathyroidal growth, lymph node involvement, radioiodine resistance, and tumor recurrence.

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16
Q

What is the main genetic alteration found in FTC?

A

RAS

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17
Q

What is the risk of cancer in nodules positive for RAS mutations?

A

79% of RAS mutation-positive “benign” nodules have evidence for clonal neoplasm and early transformation to cancer.

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18
Q

What are the three signaling pathways involved in thyroid cancer?

A

MAP-kinase, PIP3-kinase/protein-kinase-B (PI3K/AKT), and adhesion and migration.

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19
Q

What is the effect of mutated RAS protein in thyroid cancer?

A

Mutated RAS protein elicits GTP-ase effect and, consequently, activation of follicular cell proliferation, leading to genomic instability, increased growth potential, and tumor development.

20
Q

What is the RET proto-oncogene?

A

The RET proto-oncogene encodes a tyrosine-kinase transmembrane receptor.

21
Q

What is the effect of RET/PTC1 fusion protein in thyroid cancer?

A

RET/PTC1 fusion protein results in reduced malignancy.

22
Q

What is the effect of RET/PTC3 fusion protein in thyroid cancer?

A

RET/PTC3 fusion protein results in enhanced malignancy.

23
Q

What is the PAX8 gene?

A

The PAX8 gene encodes a transcriptional factor that has a role in tissue differentiation.

24
Q

What is the PAX8/PPAR-gamma-1 gene rearrangement?

A

The PAX8/PPAR-gamma-1 gene rearrangement has been observed in follicular thyroid cancer (FTC).

25
Q

What are TERT point mutations in thyroid cancer?

A

TERT point mutations are genetic alterations observed in thyroid cancer.

26
Q

What is the genomic landscape of anaplastic thyroid cancer?

A

The genomic landscape of anaplastic thyroid cancer involves multiple driver mutations, such as BRAF and PIK3CA.

27
Q

What is the driving gene fusion in medullary thyroid cancer?

A

The driving gene fusion in medullary thyroid cancer is ALK fusion genes.

28
Q

What is the significance of BRAF and PIK3CA mutations in thyroid cancer?

A

They are multiple driver mutations.

29
Q

What are some of the genes associated with thyroid cancer?

A

TP53, TERT, ALK fusions, NTRK1 fusions, NTRK3 fusions, BRAF V600E, RET/PTC, RAS, PTEN, BRAF K601E, PAX8/PPARG.

30
Q

What is the ThyroSeq v2?

A

It is a 56-gene panel used for molecular testing of thyroid nodules.

31
Q

What is the ThyroSeq v3?

A

It is a 112-gene panel used for molecular testing of thyroid nodules.

32
Q

What is the platform used for ThyroCanTM?

A

IonTorrent PGM.

33
Q

What is the purpose of the Afirma Veracyte test?

A

It is used for molecular testing of thyroid nodules.

34
Q

What is the NGS-based method used in ThyroCanTM?

A

It is a method that uses 23 cancer genes and 2 tissue control genes to detect 568 mutations and 2 expressions.

35
Q

What is the platform used for the analysis of +2 tissue control genes?

A

IonTorrent PGM.

36
Q

What is the target gene analysis method used in this study?

A

Targeted NGS, mutation analysis.

37
Q

What are the genes targeted for mutation analysis in this study?

A

BRAF, KRAS, NRAS, HRAS, TERT, RET, TP53, AXIN1, APC, IDH1, SMAD4, MET, CTNNB1, PIK3CA, DICER1, VHL, PTEN, LPAR4, EIF1AX, GAS8-AS1, TSHR, AKT1, GNAS.

38
Q

What is the purpose of scintigraphy in the diagnosis of thyroid nodules?

A

To detect hyperfunctioning nodules.

39
Q

What are the treatment options for hyperfunctioning thyroid nodules?

A

Radioiodine treatment or surgery.

40
Q

What imaging technique is used to suspect thyroid nodules?

A

Ultrasound.

41
Q

What is the purpose of a TSH assay in the management of thyroid nodules?

A

To determine if the patient has suppressed, normal, or elevated levels of TSH.

42
Q

What is the next step in the management of a hyperfunctioning thyroid nodule?

A

Radioiodine treatment or surgery.

43
Q

What is the purpose of an ultrasound in the management of thyroid nodules?

A

To determine if the nodule is suspect or not suspect for malignancy.

44
Q

What is the purpose of a fine-needle aspiration biopsy in the management of thyroid nodules?

A

To obtain cytology and determine if the nodule is malignant or benign.

45
Q

What is the next step in the management of a thyroid nodule with uncertain cytology?

A

Repeated biopsy or observation.

46
Q

What are some molecular markers that can be used in the treatment of thyroid tumors?

A

Positive markers.

47
Q

What characteristics need to be checked in thyroid nodules?

A
  • size,
  • consistency,
  • multiple/solitary,
  • fixed/mobile,
  • cervical lymph nodes,
  • hypodensity,
  • microcalcification,
  • hypervascularisation,
  • solid nodule,
  • irregular borders,
  • lack of halo sign

1. Internal Medicine I (20 decks)

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