scholarly journals Thyroid Hormone Resistance With Concurrent Papillary Thyroid Cancer

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A961-A962
Author(s):  
Dhivya Pahwa ◽  
Michael Howard Shanik
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Hormone Receptor ◽  
Hormone Resistance ◽  
Papillary Thyroid ◽  
Free T4 ◽  
Thyroid Hormone Resistance ◽  
History Of

Abstract Introduction: Thyroid hormone resistance is a genetic mutation resulting in decreased receptor responsiveness. We present a case of thyroid hormone resistance with concurrent papillary thyroid cancer. Clinical Case: A 34-year-old man with a history of papillary thyroid carcinoma status post total thyroidectomy and radioactive iodine. He had transferred his care after moving to our area. He presented with persistently elevated TSH despite ongoing treatment with Levothyroxine 400 mcg daily. Upon presentation the patient reported intermittent palpitations and tremor. Vital signs revealed height of 74 inches, weight of 235 pounds, blood pressure of 112/64, and heart rate of 48. Physical examination revealed a well -healed scar on the neck without palpable lymphadenopathy. Bloodwork revealed TSH of 15.28 mIU/L and Free T4 of 2.8 ng/dL. The patient was maintained on Levothyroxine 400 mcg daily and educated on proper administration of the medication. Two months later, bloodwork revealed a TSH of 9.22 mIU/L with a Free T4 of 3.3 ng/dL. MRI of the pituitary revealed a 4mm hyper-intensity which likely represented a microadenoma. Resistance Thyroid Hormone (RTH) Mutation analysis was ordered which revealed a heterozygous mutation for the Thyroid Hormone Receptor (THR)-Beta gene. The mutation was detected at pArg438His indicating a single nucleotide substitution leading to the replacement of arginine by histidine at the p.438 of the translated protein on exon 10. The patient was maintained on Levothyroxine at 400 mcg daily. Discussion: Thyroid hormone resistance describes a constellation of symptoms from decreased tissue responsiveness to thyroid hormones. Literature reveals the prevalence of THR to be 1 in 40,000 individuals. It occurs due to mutation on the thyroid hormone receptor, most often found on the alpha or beta subunit. Frequently patients present with tachycardia and hyperactivity but it can also present with symptoms suggestive of hypothyroidism and goiter. Risk factors include family history of RTH mutation often with an autosomal dominant inheritance pattern. Patients with an elevated Free T4 with a non-suppressed TSH should be investigated with a genetic analysis of Resistance Thyroid hormone. A positive mutation would confirm the diagnosis. Close monitoring of symptoms as well as thyroid function tests should guide treatment. The concurrent diagnosis of thyroid hormone resistance in conjunction with papillary thyroid carcinoma in our patient is unique and makes management a challenge. The literature reveals few cases reported. Reference: DynaMed. (2018, November 30). Thyroid Hormone Resistance. Retrieved October 2, 2020, from https://www-dynamed-com.arktos.nyit.edu/topics/dmp~AN~T912485 Igata M, et al. Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma. Endocrinol Diabetes Metab Case Rep. 2016;2016:160003. doi:10.1530/EDM-16-0003

scholarly journals MON-472 A Case of Resistance to Thyroid Hormone with Concurrent Hashimoto’s Thyroiditis and Post-Surgical Hypothyroidism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Julie Bernthal ◽  
Sarah Kim ◽  
Shira Grock
Keyword(s):  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Hashimoto's Thyroiditis ◽  
Papillary Thyroid ◽  
Free T4 ◽  
Resistance To Thyroid Hormone ◽  
The Right

Abstract Introduction: Resistance to thyroid hormone (RTH) is a rare defect that results in impaired sensitivity to thyroid hormone. While most commonly caused by mutations in the thyroid hormone receptor beta (THRβ) gene, in 15% of patients with the RTH phenotype, no mutation is identified.1 This entity is known as non-thyroid hormone receptor RTH (nonTR-RTH). Patients with RTH have an increased risk of autoimmune thyroid disease with a reported odds ratio of 2.36.2 Hashimoto’s thyroiditis or other etiologies of hypothyroidism add a layer of complexity to RTH as such individuals may require high doses of levothyroxine to overcome hormone resistance. Clinical Case: A 36-year-old male was referred for abnormal thyroid function tests. He denied symptoms of thyroid dysfunction. Physical examination was notable for a goiter. Weight was 83 kg. Initial labs revealed TSH 6.8 mcIU/mL (0.3-4.7 mcIU/mL), free T4 2.0 ng/dL (0.8-1.7 ng/dL), free T3 491 pg/dL (222-383 pg/dL), and thyroid peroxidase antibody >600 IU/mL (≤20 IU/mL). Additional work-up demonstrated elevated free T4 by equilibrium dialysis 2.5ng/dL (0.9-2.2 ng/dL) and elevated TSH with HAMA treatment 5.96 mIU/L (0.40-4.50 mIU/L), thereby ruling out familial dysalbuminemic hyperthyroxinemia and HAMA interference. Alpha-subunit of 0.30 ng/mL (<0.55 ng/mL) and normal pituitary MRI did not support a TSH-secreting adenoma. Quest Diagnostics RTH Gene Sequencing was negative for a mutation in the THRβ gene. The patient was subsequently diagnosed with nonTR-RTH. Thyroid ultrasound showed multiple thyroid nodules, including a 1.8 cm hypoechoic, complex nodule in the left inferior gland and a 1.7 cm isoechoic nodule in the right inferior gland. Fine needle aspiration of the left nodule was suspicious for papillary thyroid carcinoma and the right nodule showed lymphocytic thyroiditis. The patient underwent total thyroidectomy and pathology demonstrated a benign left nodule and an incidental 0.3 cm right papillary thyroid carcinoma. The patient started levothyroxine 150 mcg daily (1.8 mcg/kg) post-operatively with subsequent TSH of 18.1 mcIU/mL. His dose was increased to 200 mcg daily (2.4 mcg/kg) and TSH was still elevated at 11.7 mcIU/mL. His levothyroxine dose was subsequently increased to 250 mcg daily (3 mcg/kg) and TSH is outstanding. Conclusions: This case highlights the diagnostic challenge in nonTR-RTH. It also demonstrates the complex management of patients with RTH and concurrent hypothyroidism. Such patients need close monitoring and aggressive titration of levothyroxine to achieve desired hormone levels. 1. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta 2013;1830:3987-4003. 2. Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab 2010;95:3189-93.

scholarly journals Papillary Thyroid Carcinoma With Cystic Changes in a Patient With Prior History of Toxic Nodule

2020 ◽  
Vol 8 ◽  
pp. 232470962094267
Author(s):  
Gliceida Maria Galarza Fortuna ◽  
Paola Rios ◽  
Ailyn Rivero ◽  
Gabriela Zuniga ◽  
Kathrin Dvir ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Thyroid Nodules ◽  
Molecular Testing ◽  
Papillary Thyroid ◽  
Thyroid Lobectomy ◽  
Cystic Changes ◽  
History Of

Thyroid nodules are palpable on up to 7% of asymptomatic patients. Cancer is present in 8% to 16% of those patients with previously identified thyroid nodules. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, accounting for approximately 85% of thyroid cancers. Although most appear as solid nodules on ultrasound imaging, a subset of 2.5% to 6% has cystic components. The presence of cystic changes within thyroid nodules decreases the accuracy of fine needle aspiration (FNA) in the diagnosis of thyroid cancer, given the difficulty of obtaining appropriate cellular content. This becomes a diagnostic and therapeutic challenge. We present a case of a 31-year-old female with a 1-month history of palpitations, fatigue, and night sweats, who underwent evaluation, and was diagnosed with subclinical hyperthyroidism. She presented 4 years later with compressive symptoms leading to repeat FNA, showing Bethesda III-atypia of undetermined significance and negative molecular testing. Thyroid lobectomy revealed PTC with cystic changes. This case is a reminder that patients with hyperfunctioning thyroid nodule should have closer follow-up. It poses the diagnostic dilemma of how much is good enough in the evaluation and management of a thyroid nodule. Early detection and action should be the standard of care.

scholarly journals Thyroid Hormone Receptor β (THRB) Is a Major Target Gene for Micro-RNAs Deregulated in Papillary Thyroid Carcinoma (PTC)

2011 ◽  
Vol 25 (2) ◽  
pp. 373-373
Author(s):  
Krystian Jazdzewski ◽  
Joanna Boguslawska ◽  
Jaroslaw Jendrzejewski ◽  
Sandya Liyanarachchi ◽  
Janusz Pachucki ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Hormone Receptor ◽  
Untranslated Region ◽  
Normal Tissue ◽  
Thyroid Hormone Receptor ◽  
Papillary Thyroid ◽  
Down Regulation ◽  
Micro Rnas

Context: Loss of the thyroid hormone receptor is common in tumors. In mouse models, a truncated THRB gene leads to thyroid cancer. Previously, we observed up-regulation of the expression of eight micro-RNAs (miR) in papillary thyroid carcinoma (PTC) tumors. Objective: Our objective was to determine whether THRB might be inhibited by miR up-regulated in PTC. Design: The potential binding of miR to the 3′-untranslated region of THRB was analyzed in silico. Direct inhibition by miR binding to the cloned 3′-untranslated region of THRB was evaluated using luciferase assays. Inhibition of endogenous THRB and its target genes (DIO1 and APP) was examined in cell lines transfected by pre-miR. The impact on thyroid hormone response elements (TRE) was evaluated in promoter assays. Correlations between the expression of THRB and miR was evaluated in 13 PTC tumor/normal tissue pairs. Results: THRB contains binding sites for the top seven miR up-regulated in PTC (P = 0.0000002). Direct interaction with THRB was shown for miR-21 and miR-146a. We observed lower levels of THRB transcripts in cell lines transfected with miR-21, −146a, and −221 (down-regulation of 37–48%; P < 0.0001), but not with miR-181a. THRB protein was suppressed down to 10–28% by each of four miR. Concomitant expression of DIO1 and APP was affected (down-regulation of 32–66%, P < 0.0034 and up-regulation of 48–57%, P < 0.0002, respectively). All four miR affected TRE activity in promoter assays. Down-regulation of luciferase occurred after transfection with pTRE-TK-Luc construct and each of four miR. The analysis of tumor/normal tissue pairs revealed down-regulation of THRB in 11 of 13 pairs (1.3- to 9.1-fold), and up-regulation of miR-21, −146a, −181a, and −221 in almost all pairs. Conclusions: MiR up-regulated in PTC tumors directly inhibit the expression of THRB, an important tumor suppressor gene.

scholarly journals A Case of Miliary Nodules, Hemoptysis and Hot Thyroid Cancer: Unusual Presentation of Papillary Thyroid Cancer

2015 ◽  
Vol 7 (3) ◽  
pp. 72-75
Author(s):  
Jesse SL Hu ◽  
Rajeev Parameswaran
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Neck Dissection ◽  
Young Patient ◽  
Papillary Thyroid Cancer ◽  
Braf Mutation ◽  
Unusual Presentation ◽  
Papillary Thyroid ◽  
History Of

ABSTRACT Background Papillary thyroid carcinoma is the commonest thyroid cancer. Patients usually present with thyroid nodule and rarely with hyperthyroidism such that 2009 ATA guidelines recommended that cytological evaluation is not necessary in patients with hyperfunctioning nodules as they rarely harbor malignancy. We report a case of an unusual presentation of metastatic papillary thyroid carcinoma in a young patient. Case presentation A 17-year-old girl, presented to our hospital with 3 days of fever, cough and hemoptysis. Chest X-ray showed extensive miliary nodules and was treated for presumed miliary tuberculosis. Biochemical investigations revealed a hyperthyroid state (fT4 55.7 TSH < 0.02), with negative antibodies (TRAB and TSI). Radioisotope scan showed increased uptake on right lobe. She underwent bronchoscopy and biopsy which revealed metastatic papillary thyroid carcinoma. Clinical examination revealed a small goiter with palpable cervical node at level III on the left. There were no clinical signs of Graves’ disease and she had no history of previous radiation or family history of endocrine disease. Ultrasound revealed multiple hypodense thyroid nodules with microcalcification and increased vascularity. Ultrasound of the neck showed the presence of abnormal lymphadenopathy. She underwent total thyroidectomy, bilateral central neck dissection and left lateral modified neck dissection. Histology showed 1.3 cm papillary thyroid carcinoma involving the left lobe and multifocal papillary thyroid microcarcinomas involving both lobes. Ten out of 27 nodes were involved. She was BRAF mutation positive. She recovered well postoperatively and was rendered hypothyroid. She underwent radioiodine ablation which showed no more disease in the neck but unfortunately there was no uptake in the lung metastases. Conclusion Metastatic papillary thyroid cancer developing in a young patient with hyperthyroidism is extremely rare and suggests a more aggressive behavior as confirmed by BRAF mutation. How to cite this article Hu JSL, Parameswaran R. A Case of Miliary Nodules, Hemoptysis and Hot Thyroid Cancer: Unusual Presentation of Papillary Thyroid Cancer. World J Endoc Surg 2015;7(3):72-75.

scholarly journals Thyroid Hormone Receptor β (THRB) Is a Major Target Gene for MicroRNAs Deregulated in Papillary Thyroid Carcinoma (PTC)

2011 ◽  
Vol 96 (3) ◽  
pp. E546-E553 ◽  
Author(s):  
Krystian Jazdzewski ◽  
Joanna Boguslawska ◽  
Jaroslaw Jendrzejewski ◽  
Sandya Liyanarachchi ◽  
Janusz Pachucki ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Cell Lines ◽  
Hormone Receptor ◽  
Untranslated Region ◽  
Normal Tissue ◽  
Thyroid Hormone Receptor ◽  
Papillary Thyroid ◽  
Down Regulation

Context: Loss of the thyroid hormone receptor is common in tumors. In mouse models, a truncated THRB gene leads to thyroid cancer. Previously, we observed up-regulation of the expression of eight microRNAs (miRs) in papillary thyroid carcinoma (PTC) tumors. Objective: Our objective was to determine whether THRB might be inhibited by miRs up-regulated in PTC. Design: The potential binding of miR to the 3′-untranslated region of THRB was analyzed in silico. Direct inhibition by miRs binding to the cloned 3′-untranslated region of THRB was evaluated using luciferase assays. Inhibition of endogenous THRB and its target genes (DIO1 and APP) was examined in cell lines transfected by pre-miRs. The impact on thyroid hormone response element (TRE) was evaluated in promoter assays. Correlations between the expression of THRB and miRs was evaluated in 13 PTC tumor/normal tissue pairs. Results: THRB contains binding sites for the top seven miRs up-regulated in PTC (P = 0.0000002). Direct interaction with THRB was shown for miR-21 and miR-146a. We observed lower levels of THRB transcripts in cell lines transfected with miR-21, -146a, and -221 (down-regulation of 37–48%; P &lt; 0.0001), but not with miR-181a. THRB protein was suppressed down to 10–28% by each of four miRs. Concomitant expression of DIO1 and APP was affected (down-regulation of 32–66%, P &lt; 0.0034 and up-regulation of 48–57%, P &lt; 0.0002, respectively). All four miRs affected TRE activity in promoter assays. Down-regulation of luciferase occurred after transfection with pTRE-TK-Luc construct and each of four miRs. The analysis of tumor/normal tissue pairs revealed down-regulation of THRB in 11 of 13 pairs (1.3- to 9.1-fold), and up-regulation of miR-21, -146a, -181a, and -221 in almost all pairs. Conclusions: MiRs up-regulated in PTC tumors directly inhibit the expression of THRB, an important tumor suppressor gene.

scholarly journals ARMC5-associated Bilateral Macronodular Adrenocortical Hyperplasia: A Novel Germline Variant Associated with Concomitant Papillary Thyroid Carcinoma and Meningioma

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S54-S55
Author(s):  
K Strauss ◽  
S Smith ◽  
A Grover
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Cushing Syndrome ◽  
Case Reports ◽  
Papillary Thyroid ◽  
Endocrine Neoplasia ◽  
Familial Form ◽  
Adrenocortical Hyperplasia ◽  
History Of

Abstract Introduction/Objective Germline mutations in the tumor suppressor gene Armadillo-containing repeat protein 5 gene (ARMC5) have been very recently recognized as a cause for a familial form of bilateral macronodular adrenocortical hyperplasia (BMAH), itself a rare cause of Cushing syndrome. In patients with ARMC5 mutations, scattered case reports have also shown an association with meningiomas and cancers of the pancreas, breast, colon, and thyroid. Methods/Case Report We present the case of BMAH, arising in a 61-year-old female with a history of metastatic papillary thyroid carcinoma and meningioma. The patient presented with bilateral but asymmetric adrenal enlargement (right greater than left) and Cushing syndrome. Given history of thyroid cancer and meningioma, genetics referral was ordered. Counseling revealed a pedigree without a strongly evident familial pattern of hereditary endocrine neoplasia characteristic of any of the more common inherited dispositions to endocrine neoplasia. Additionally, a targeted capture-based NGS germline genetic sequencing study for variants in 12 genes associated with associated with hereditary thyroid cancer was performed and negative. However, based on recent scholarship regarding ARMC5, follow-up germline NGS and Sanger sequencing studies encompassing the entire coding sequences of ARMC5 were ordered. These identified a germline, heterozygous, novel (not in ClinVar) but likely pathogenic variant in (c.802C&gt;T, p.Arg268*), providing a likely explanation for the patient’s BMAH. In attempt to control the patient’s Cushing symptoms, right-sided adrenalectomy was performed, revealing a 220g adrenal gland with marked multinodular hyperplasia with solid, nested, and tubular architecture. Results (if a Case Study enter NA) NA Conclusion While case reports exist describing an association between other ARMC5 mutations and BMAH with concomitant meningiomas and/or malignancies, greater study is needed in order to better characterize the phenotypic spectrum of this disease. Our experience with this case not only reports a novel, apparently pathogenic mutation, but it documents its association with BMAH and, additionally, papillary thyroid carcinoma and meningioma.

scholarly journals Thyroid Hormone Receptor β (THRB) Is a Major Target Gene for Micro-RNAs Deregulated in Papillary Thyroid Carcinoma (PTC)

2011 ◽  
Vol 32 (1) ◽  
pp. 157-157
Author(s):  
Krystian Jazdzewski ◽  
Joanna Boguslawska ◽  
Jaroslaw Jendrzejewski ◽  
Sandya Liyanarachchi ◽  
Janusz Pachucki ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Hormone Receptor ◽  
Target Gene ◽  
Thyroid Hormone Receptor ◽  
Papillary Thyroid ◽  
Micro Rnas ◽  
Thyroid Hormone Receptor Β ◽  
Major Target

scholarly journals Recurrent follicular thyroid carcinoma presenting as a cutaneous lesion. An unusual case of pigmented skin lesion.

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Gerald Roseman ◽  
Sumrit Bola ◽  
Alexander Ashman ◽  
S Garvie ◽  
Rogan Corbridge
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Skin Lesion ◽  
Thyroid Carcinoma ◽  
Unusual Case ◽  
Follicular Thyroid Carcinoma ◽  
Cutaneous Lesion ◽  
Cancer Recurrence ◽  
Papillary Thyroid ◽  
History Of

Follicular thyroid carcinoma most commonly metastasises to the lungs, liver, and non-cranial bones. Where skin metastases have occurred, this has been in the context of diffuse metastatic disease, and most commonly occur in the scalp. Cutaneous deposits in the neck have been described in papillary thyroid carcinoma, but we believe this to be the first description of cancer recurrence presenting as cutaneous metastatic follicular thyroid carcinoma. A pigmented skin lesion in a patient with a history of thyroid cancer could represent a metastasis and should be treated with suspicion.

scholarly journals Calcification Patterns in Papillary Thyroid Carcinoma are Associated with Changes in Thyroid Hormones and Coronary Artery Calcification

2018 ◽  
Vol 7 (8) ◽  
pp. 183
Author(s):  
Jeonghoon Ha ◽  
Jeongmin Lee ◽  
Kwanhoon Jo ◽  
Jeong-Sun Han ◽  
Min-Hee Kim ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Thyroid Hormone ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Coronary Artery Calcification ◽  
Close Association ◽  
Papillary Thyroid ◽  
Free T4 ◽  
Hormone Levels ◽  
Thyroid Hormone Levels

Recent studies suggested that a lower serum thyroid hormone level is associated with more vascular calcification. However, it has been rarely evaluated whether lower thyroid hormone levels affect the calcification of thyroid cancer and there is a relationship between calcification patterns of papillary thyroid carcinoma (PTC) and coronary artery calcification (CAC). The study was divided into two groups: First, we retrospectively reviewed 182 PTC patients and examined the correlation between PTC calcification patterns and CAC by coronary computed tomography (CT). Second, the correlation between the calcification pattern of PTC and thyroid hormone concentration was investigated (n = 354). The calcification pattern of PTC was evaluated by thyroid ultrasonography and classified into four groups: no-calcification, microcalcification, macrocalcification, and mixed-calcification. In PTC patients with microcalcification and mixed calcification, more CAC was observed and coronary calcium score (CCS) was higher. Lower free T4 and higher thyroid-stimulating hormone (TSH) levels were associated with microcalcification and mixed calcification, not with macrocalcification and no calcification. PTC with microcalcification and mixed calcification showed more aggressive phenotypes like lymph node metastasis and more advanced TNM (tumor, node, and metastasis) stage than those with no calcification and macrocalcification. Calcification patterns of PTC showed close association with thyroid hormone levels and CAC. Further research is needed to determine how these findings are related to cardiovascular risk and disease-specific mortality.

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