scholarly journals Genetics, Diagnosis, and Management of Hürthle Cell Thyroid Neoplasms

2021 ◽  
Vol 12 ◽  
Author(s):  
David G. McFadden ◽  
Peter M. Sadow

Hürthle cell lesions have been a diagnostic conundrum in pathology since they were first recognized over a century ago. Controversy as to the name of the cell, the origin of the cell, and even which cells in particular may be designated as such still challenge pathologists and confound those treating patients with a diagnosis of “Hürthle cell” anything within the diagnosis, especially if that anything is a sizable mass lesion. The diagnosis of Hürthle cell adenoma (HCA) or Hürthle cell carcinoma (HCC) has typically relied on a judgement call by pathologists as to the presence or absence of capsular and/or vascular invasion of the adjacent thyroid parenchyma, easy to note in widely invasive disease and a somewhat subjective diagnosis for minimally invasive or borderline invasive disease. Diagnostic specificity, which has incorporated a sharp increase in molecular genetic studies of thyroid tumor subtypes and the integration of molecular testing into preoperative management protocols, continues to be challenged by Hürthle cell neoplasia. Here, we provide the improving yet still murky state of what is known about Hürthle cell tumor genetics, clinical management, and based upon what we are learning about the genetics of other thyroid tumors, how to manage expectations, by pathologists, clinicians, and patients, for more actionable, precise classifications of Hürthle cell tumors of the thyroid.

2020 ◽  
pp. 014556132097376
Author(s):  
Olivia Green ◽  
Matthew Keisling ◽  
Mamatha Kambalapalli ◽  
Janice McDaniel ◽  
Scott Boulanger ◽  
...  

Hurthle cell tumors are rare follicular-derived thyroid neoplasms. Hurthle cell tumors may be benign or malignant. Workup includes imaging, fine needle aspiration, and treatment usually consists of observation versus thyroidectomy. We describe a case of Hurthle cell adenoma in an adolescent; to the best of our knowledge, this represents only the third case described in the English literature of adolescent Hurthle cell adenoma.


2002 ◽  
Vol 126 (10) ◽  
pp. 1233-1236
Author(s):  
Tamar Giorgadze ◽  
Richard M. Ward ◽  
Zubair W. Baloch ◽  
Virginia A. LiVolsi

Abstract We present a case of a malignant phyllodes tumor metastasizing to a Hürthle cell adenoma of the thyroid. A 55-year-old woman underwent mastectomy for a malignant phyllodes tumor. Two years later, she presented with a left thyroid mass, which was a single, circumscribed, soft, deep red-brown nodular lesion with an eccentric area of firmer consistency. Histologically, the thyroid tumor was composed of 2 distinct types of cellular proliferation. Atypical spindle cells were infiltrating between the Hürthle cell cords and follicles in a fibrosarcomatous pattern. A battery of immunohistochemical stains was applied to both the thyroid and breast tumors for comparison. Based on the histologic and immunophenotypic features of the fibrosarcomatous components of both the breast and thyroid tumors, we rendered a diagnosis of cystosarcoma phyllodes metastatic to Hürthle cell adenoma. To the best of our knowledge, this unusual case is a first report of tumor-to-tumor metastasis of a sarcoma to a primary thyroid neoplasm.


2008 ◽  
Vol 132 (8) ◽  
pp. 1241-1250 ◽  
Author(s):  
Kathleen T. Montone ◽  
Zubair W. Baloch ◽  
Virginia A. LiVolsi

Abstract Context.—Hürthle cells are eosinophilic, follicular-derived cells that are associated with a variety of nonneoplastic and neoplastic thyroid lesions. The differential diagnosis of Hürthle cell lesions is quite broad. Objective.—To review the pathologic conditions associated with Hürthle cells in the thyroid and to discuss pathology of thyroid lesions associated with oncocytic cytology. Data Sources.—A variety of thyroid nonneoplastic (autoimmune thyroiditis, multinodular goiter) and neoplastic conditions (Hürthle cell adenoma, Hürthle cell carcinoma) are associated with Hürthle cell cytology. In addition, there are several thyroid neoplasms that should be considered when one observes a Hürthle cell neoplasm in the thyroid (oncocytic variant of medullary carcinoma, several variants of papillary thyroid carcinoma). Conclusions.—Oncocytic cytology is seen in a variety of thyroid conditions that are associated with a broad differential diagnosis and care must be used for accurate diagnosis. Newer molecular-based techniques may be useful for further classification of thyroid neoplasms with oncocytic pathology.


2016 ◽  
Vol 23 (9) ◽  
pp. 769-782 ◽  
Author(s):  
Thais Biude Mendes ◽  
Bruno Heidi Nozima ◽  
Alexandre Budu ◽  
Rodrigo Barbosa de Souza ◽  
Marcia Helena Braga Catroxo ◽  
...  

We have identified previously a panel of markers (C1orf24, ITM1 and PVALB) that can help to discriminate benign from malignant thyroid lesions. C1orf24 and ITM1 are specifically helpful for detecting a wide range of thyroid carcinomas, and PVALB is particularly valuable for detecting the benign Hürthle cell adenoma. Although these markers may ultimately help patient care, the current understanding of their biological functions remains largely unknown. In this article, we investigated whether PVALB is critical for the acquisition of Hürthle cell features and explored the molecular mechanism underlying the phenotypic changes. Through ectopic expression ofPVALBin thyroid carcinoma cell lines (FTC-133 and WRO), we demonstrated that PVALB sequesters free cytoplasmic Ca2+, which ultimately lowers calcium levels and precludes endoplasmic reticulum (ER) Ca2+refilling. These results were accompanied by induced expression of PERK, an ER stress marker. Additionally, forced expression of PVALB reduces Ca2+inflow in the mitochondria, which can in turn cause changes in mitochondria morphology, increase mitochondria number and alter subcellular localization. These findings share striking similarity to those observed in Hürthle cell tumors. Moreover, PVALB inhibits cell growth and induces cell death, most likely through the AKT/GSK-3β. Finally, PVALB expression coincides with Ca2+deposits in HCA tissues. Our data support the hypothesis that the loss ofPVALBplays a role in the pathogenesis of thyroid tumors.


2021 ◽  
Vol 2 (2) ◽  
pp. 77-92
Author(s):  
Esther Diana Rossi ◽  
Philippe Vielh

Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these nodules are benign, whereas 5–15% of them are malignant. The pre-operative diagnosis of cancer is a critical challenge in order to ensure that each patient can be treated with the best tailored management with a reduction of unnecessary surgery for benign lesions. Fine needle aspiration cytology (FNAC) represents the first and most important diagnostic tool for the evaluation of thyroid lesions. According to the literature, FNAC is able to render a conclusive diagnosis in up to 70–80% of all cases. For the remaining 20–30% of nodules, cytological diagnoses fall into the category of indeterminate lesions mostly due to the lack of specific morphological features. According to the Bethesda system for reporting thyroid cytopathology (TBSRTC), indeterminate lesions can be sub-stratified into three different subcategories including “atypia of undetermined significance/follicular lesion of undetermined significance-AUS/FLUS”; “follicular or Hürthle cell neoplasm/suspicious for follicular or Hürthle cell neoplasm-FN/SFN”; and “suspicious for malignancy-SFM”. Many of these indeterminate lesions undergo repetition or diagnostic lobectomy. Nonetheless, the majority of these cases will have a benign diagnosis due to the fact that the rate of cancer ranges between 6 and 30%. It stands to reason that the application of ancillary technique, mostly molecular testing, emerged as a critical additional tool for those thyroid indeterminate lesions. Since the early 1990s, material collected from cytological samples yields sufficient and adequate cells for the detection of point mutation or gene fusions. Nonetheless, the further availability of new sequencing technologies such as next-generation sequencing (NGS) has led to more comprehensive molecular applications adopted now in clinical use. The current review investigates the multiple advances in the field of molecular testing applied in thyroid cytology.


Thyroid ◽  
2006 ◽  
Vol 16 (4) ◽  
pp. 325-331 ◽  
Author(s):  
Karmen Stankov ◽  
Annalisa Biondi ◽  
Marilena D'Aurelio ◽  
Giuseppe Gasparre ◽  
Anna Falasca ◽  
...  

2021 ◽  
Vol 4 (3) ◽  
Author(s):  
Ramesh Mahadev Tambat ◽  
Sreenivas M. D. ◽  
Tejas A. P. ◽  
Nitin Kumar K ◽  
Sadiq Nawaz F ◽  
...  

Author(s):  
T. Yu. Danzanova ◽  
E. A. Gudilina ◽  
A. A. Kalinina ◽  
P. I. Lepedatu ◽  
G. T. Sinyukova

Purpose: Assessment of the capabilities of the ultrasound method in the diagnostics of a rare Hurthle-cell tumor of the thyroid gland on the example of a clinical case of a patient with malignant neoplasms of independent primary multiple localizations in comparison with other research methods.Material and methods: A comprehensive study of materials from the history of the disease, the results of clinical, laboratory, instrumental, morphological research methods and their comparison with diagnostic cases from literature data.Results: Despite the full comprehensive examination of the patient, including ultrasound, MRI, PET/CT, puncture biopsy under ultrasound control, it was not possible to make the correct diagnosis before the operation. The presence of other malignant diseases in the patient’s history, the presence of altered paratracheal nodes in the same zone, and the rare occurrence of Hurthle thyroid tumors played a role.Conclusions: Hurthle-thyroid cell tumors are a rare disease, but it must always be taken into account in the diagnostic search, since even benign Hurthle tumors have a high risk of malignancy and spreading of distant metastases. 


2021 ◽  
Vol 20 (1) ◽  
pp. 42-55
Author(s):  
A. F. Valiakhmetova ◽  
L. I. Papusha ◽  
A. V. Artemov ◽  
G. V. Tereshchenko ◽  
E. A. Sal’nikova ◽  
...  

Background. Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an extremely rare entity first officially recognized in 2016 WHO classification of tumors of the central nervous system. Magnetic resonance imaging (MRI) of this tumor usually visualizes diffuse meningeal infiltration with contrast enhancement, with the presence of multiple small contrast‑negative cysts, visible mainly in the T2 images. The main molecular markers of DLGNTs include the KIAA1549-BRAF fusion gene, BRAF V600E substitution is less common.The aim of this work is to describe the manifestation of DLGNT, its neuroimaging and molecular genetic characteristics, the experience of using anti‑BRAF and anti‑MEK therapy.Materials and methods. In this article are described four cases of DLGNT. The first patient with the presence of the KIAA1549-BRAF fusion in the tumor tissue received a full course of SIOP‑LGG / 2004 chemotherapy (carbo‑ platin and vincristine), the stabilization of the disease on the MRI remains for 4 years after completion of treatment. Second patient with KIAA1549-BRAF fusion gene in tumour tissue received MEK inhibitor trametinib as first line of treatment with the stabilization of the disease on control MRI which last for 2 years. A third patient with a mutation in the BRAF V600E gene. After disease progression on standard chemotherapy (carboplatin and vincristine) according to the SIOP‑LGG / 2004 protocol, anti‑BRAF therapy with vemurafenib was prescribed. After 10 months on MRI a complete response was recorded, which persists during the drug intake for 2.5 years. In the fourth patient, no molecular genetic aberrations were detected; a refractory / progressive course of the dis‑ ease was noted. To date, the stabilization of the disease is recorded on the fourth line of chemotherapy (everoli‑ mus and temozolomide).Conclusion. Given the rarity of this tumor and the lack of consensus about therapy, despite the limited number of observations, our experience allows us to recommend molecular testing of DLGNT to detect activating events in the BRAF gene, as well as consideration of anti‑BRAF / MEK therapy if either the BRAF V600E mutation is de‑ tected or KIAA1549-BRAF fusion.


2016 ◽  
pp. 185-185 ◽  
Author(s):  
David Schneider ◽  
Herbert Chen ◽  
Rebecca Sippel
Keyword(s):  

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