Minimally Invasive Follicular Thyroid Carcinoma Developed in Dyshormonogenetic Multinodular Goiter Due to Thyroid Peroxidase Gene Mutation

Shacham, Elena Chertok; Ishay, Avraham; Irit, Elmalah; Pohlenz, Joachim; Tenenbaum‐Rakover, Yardena

doi:10.1089/thy.2011.0478

Cited by 35 publications

(15 citation statements)

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“…Rarely, DG may present as nodular thyroid swelling in an unsuspected euthyroid adult, as seen in the report by Perry et al, in which case presence of atypia on cytology may be worrisome. Coexistence of malignancy in DG can further complicate the issue.…”

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confidence: 99%

Cytological features of dyshormonogenetic goitre: A diagnostic pitfall

et al. 2019

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Dyshormonogenetic goitre, being rare, infrequently reaches the cytopathologist's desk. This letter reports a case of a child with dyshormonogenetic goitre, highlighting its cytological features and common differential diagnoses.Dyshormonogenetic goitre (DG) is a rare cause of congenital hypothyroidism, resulting from a lack of enzymes necessary for biosynthesis/transport of thyroid hormones. The disease usually presents in childhood with symptoms secondary to hypothyroidism.Rarely, patients may be euthyroid. Owing to a lack of adequate thyroid hormone synthesis, there is uninhibited stimulation by thyroid stimulating hormone (TSH), resulting in thyroid hyperplasia, and hence thyroid swelling. This profound thyroid follicular hyperplasia can be a cause of over-diagnosis in fine needle aspiration cytology (FNAC). 1 Although the histological findings of DG are well documented, there is a paucity of literature on its cytological features as DG is usually a clinical diagnosis. However, patients may be subjected to FNAC for evaluation of either radiologically suspicious nodules or thyromegaly in an unsuspected euthyroid patient. An accurate pre-operative diagnosis on cytology, will aid correct management and avoid undue surgery. We present here the cytological and histological findings of a case of DG along with a discussion of the possible diagnostic pitfalls that this lesion may pose.An 8-year-old male presented with gradual thyroid enlargement and growth retardation from 5 years of age. The T3 (0.78 ng/mL) and T4 (1.6 μg/dL) levels were decreased, and the TSH (584-753 μIU/mL) was markedly raised. Sonography showed multinodular thyroid enlargement. The nodules were solid and hyperechoic relative to the surrounding parenchyma. Some showed cystic changes. Contrastenhanced computed tomography scan showed multiple non-enhancing well defined round to oval shaped hypo-intensities in both lobes of thyroid. Thyroid scintiscan showed a cold nodule in the inferior pole of the right thyroid lobe and another in the upper pole of the left thyroid lobe. Ultrasound-guided FNAC was performed on the two nodules using a 24-gauge needle. The smears were air-dried for May-Grünwald Giemsa and alcohol-fixed for Papanicolaou staining.Following cytological evaluation, the patient was subjected to a total thyroidectomy for cosmetic purposes, and thereafter put on hormone replacement. The thyroidectomy specimen weighed 10 g and measured 4.5 × 6 × 3 cm 3 . The external capsule was intact. The cut surface of both lobes showed solid, greyish-white well circumscribed nodules ranging in size from 0.4 to 1 cm separated by fibrous bands.The smears were cellular and showed syncytial fragments and cohesive clusters of follicular cells. Occasional stromal fragments were seen ( Figure 1A), corresponding to stromal fibrosis on histology. (Figure 1E). The follicular cells were arranged as microfollicles ( Figure 1B), representing follicular hyperplasia seen histologically ( Figure 1F). There was focal nuclear anisonucleosis with a moderate number of giant...

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Cytological features of dyshormonogenetic goitre: A diagnostic pitfall

et al. 2019

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“…We were not able to find a defect similar to our patients on literature review. The patient and her family members will be monitored regularly with a thyroid ultrasound and thyroglobulin levels in the unlikely event, they develop differentiated thyroid cancer, which can occur occasionally (1, 8, 9). …”

Section: Discussionmentioning

confidence: 99%

Euthyroid athyroxinemia – a novel endocrine syndrome

Woodhouse

Bahowairath

Elshafie

2017

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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A 55-year-old female was referred with abnormal thyroid function tests (TFTs); the free thyroxine level (FT4) was undetectable <3.3 pmol/L (normal: 7.9–14.4), while her FT3, TSH and urinary iodine levels were normal. She was clinically euthyroid with a large soft lobulated goitre that had been present for more than thirty years. She received an injection of recombinant human TSH (rhTSH) following which there was a progressive rise of the FT3 and TSH levels to 23 pmol/L and >100 mIU/L respectively at 24 h, The FT4 however remained undetectable throughout. Being on thyroxine 100 µg/day for one month, her FT4 level increased to 15 pmol/L and TSH fell to 0.08 mIU/L. Four years earlier at another hospital, her FT4 level had been low (6.8 pmol/L) with a normal TSH and a raised Tc-99 uptake of 20% (normal<4%). We checked the TFTs and Tc-99 scans in 3 of her children; one was completely normal and 2 had euthyroid with soft lobulated goitres. Their Tc-99 scan uptakes were raised at 17% and 15%, with normal TFTs apart from a low FT4 7.2 pmol/L in the son with the largest thyroid nodule. This is a previously unreported form of dyshormonogenesis in which, with time, patients gradually lose their ability to synthesize thyroxine (T4) but not triiodothyroxine (T3).Learning points:This is a previously unreported form of dyshormonogenetic goitre.This goitre progressively loses its ability to synthesize T4 but not T3.The inability to synthesize T4 was demonstrated by giving rhTSH.

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“…While discovery of a mutation in TPO as the cause of multinodular goiter may diminish that risk, it does not exclude the possibility of cancer. Most imporatantly, as exemplified in both these and previous cases, multinodular goiters in the setting of thyroid dyshormonogenesis can appear malignant, or may actually progress to true malignancy, complicating the workup and subsequent treatment [25, 26]. Therefore, going forward it would be of interest to determine the correlation, if any, between specific known and new mutations in TPO or any other step in thyroid hormone production and their relative risk of development of cancer.…”

Section: Discussionmentioning

confidence: 99%

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

Sparling

Fabian

Harik

et al. 2016

Journal of Pediatric Endocrinology and Metabolism

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Background Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer. Methods Herein we describe the cases of two brothers diagnosed with congenital hypothyroidism, with initial findings consistent with thyroid dyshormonogenesis. One brother eventually developed multinodular goiter with complex pathology on biopsy, resulting in thyroidectomy. Results Whole exome sequencing revealed the brothers carry a novel frameshift mutation in thyroperoxidase; the mutation, while not previously described, was likely both deleterious and pathogenic. Conlcusions These cases highlight the complex pathology that can occur within thyroid dyshormonogenesis, with similar appearance to possible thyroid cancer, leading to complex management decisions. They also highlight the role that a genetic diagnosis can play in interpreting the impact of dyshormonogenesis on nodular thyroid development, and the need for long-term follow-up in these patients.

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Minimally Invasive Follicular Thyroid Carcinoma Developed in Dyshormonogenetic Multinodular Goiter Due to Thyroid Peroxidase Gene Mutation

Abstract: Despite the rare occurrence of thyroid carcinoma in dyshormonogenetic MNG, we recommend long-term follow-up and regular neck ultrasound imaging to prevent delayed diagnosis of thyroid carcinoma.

Cited by 35 publications

References 29 publications

Cytological features of dyshormonogenetic goitre: A diagnostic pitfall

Cytological features of dyshormonogenetic goitre: A diagnostic pitfall

Euthyroid athyroxinemia – a novel endocrine syndrome

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

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