Abstract:BackgroundSome poorly differentiated thyroid carcinomas (PDTC) arise from pre-existing, well-differentiated carcinomas of follicular cell origin; however, others most likely arise de novo. The case of a PDTC adjacent to a pre-existing nodular goiter is very rare.Case presentationA patient had a PDTC, a widely invasive, cellular tumor with cells that lacked the nuclear features of a papillary thyroid carcinoma. Carcinoma cells were arranged in trabecular, solid, and microfollicular histological patterns and dis… Show more
“…The rarity of this neoplasm and the heterogeneity of histologic features highlight a major diagnostic challenge. PDTC constitutes ~4% of all thyroid neoplasms and mainly affects females in their fifth age similar to our case 5 , 6 .…”
Introduction and importance:
Poorly differentiated thyroid carcinomas represent a rare heterogeneous group of malignant tumors that constitute approximately 2-4% of all thyroid neoplasms. Substernal Goiter is defined as an enlargement of the thyroid gland that is located below the thoracic inlet. Malignant neoplasms arising from a substernal goiter were reported in only 2-3% of cases.
This case report has been reported in line with the SCARE Criteria.
Case presentation:
This article presents a 54-year-old Syrian female who presented at our institution due to dysphagia, dyspnea, cervical swelling, and loss of appetite. Following clinical and radiological examinations, total thyroidectomy with lymph node dissection was performed. Microscopic examination revealed an infiltrative growth pattern of insular, trabecular, and solid formations of epithelial cells with scant eosinophilic cytoplasm, hyperchromatic nuclei, and bizarre mitotic figures with areas of necrosis. Subsequently, the final diagnosis was confirmed as a multifocal poorly differentiated thyroid carcinoma arising from a substernal goiter.
Clinical discussion:
The heterogeneity of histologic features of poorly differentiated thyroid carcinoma represents a diagnostic challenge. Diagnosis of poorly differentiated thyroid carcinomas is based on the Turin Criteria which highlights histopathological features. Computed tomography plays a major role in substernal goiter for further evaluation.
Conclusion:
In this manuscript, we aimed to present a unique case report with challenging diagnostic features including the rapid development of an infiltrative poorly differentiated thyroid carcinoma from a substernal goiter highlighting the importance of a detailed histopathological examination of thyroid nodules in the absence of significant medical history.
“…The rarity of this neoplasm and the heterogeneity of histologic features highlight a major diagnostic challenge. PDTC constitutes ~4% of all thyroid neoplasms and mainly affects females in their fifth age similar to our case 5 , 6 .…”
Introduction and importance:
Poorly differentiated thyroid carcinomas represent a rare heterogeneous group of malignant tumors that constitute approximately 2-4% of all thyroid neoplasms. Substernal Goiter is defined as an enlargement of the thyroid gland that is located below the thoracic inlet. Malignant neoplasms arising from a substernal goiter were reported in only 2-3% of cases.
This case report has been reported in line with the SCARE Criteria.
Case presentation:
This article presents a 54-year-old Syrian female who presented at our institution due to dysphagia, dyspnea, cervical swelling, and loss of appetite. Following clinical and radiological examinations, total thyroidectomy with lymph node dissection was performed. Microscopic examination revealed an infiltrative growth pattern of insular, trabecular, and solid formations of epithelial cells with scant eosinophilic cytoplasm, hyperchromatic nuclei, and bizarre mitotic figures with areas of necrosis. Subsequently, the final diagnosis was confirmed as a multifocal poorly differentiated thyroid carcinoma arising from a substernal goiter.
Clinical discussion:
The heterogeneity of histologic features of poorly differentiated thyroid carcinoma represents a diagnostic challenge. Diagnosis of poorly differentiated thyroid carcinomas is based on the Turin Criteria which highlights histopathological features. Computed tomography plays a major role in substernal goiter for further evaluation.
Conclusion:
In this manuscript, we aimed to present a unique case report with challenging diagnostic features including the rapid development of an infiltrative poorly differentiated thyroid carcinoma from a substernal goiter highlighting the importance of a detailed histopathological examination of thyroid nodules in the absence of significant medical history.
“…Primary thyroid tumors were classified according to the most recent World Health Organization criteria with the exception of tall cell variant (TCV-PTC) and poorly differentiated thyroid cancer [6]. Tumors were classified as TCV-PTC if they contained ≥ 50% tall cells.…”
Purpose: Brain metastasis (BM) in patients with differentiated thyroid cancer (DTC) are rare but associated with poor prognosis. We examined risk factors for overall survival (OS) in this population and explored the pattern of genomic alterations. Materials and Methods: Single institution, retrospective review of all patients with DTC from January 2000-November 2016, identified 79 patients for analysis. Multiple prognostic factors, including age, gender, distal metastasis (DM), diagnosis time, DM sites, BM diagnosis time, BM number and size, genomic sequencing data, craniectomy, external beam radiation (EBRT), and kinase inhibitor therapies were evaluated. Univariate and multivariate analyses were performed. Results: Median survival after BM was 18 months. One-and three-year survival was 63% and 33% respectively. Univariate analysis identified four covariates correlated with prolonged survival: time between DTC diagnosis and BM < 3 years (p = 0.01), time from initial DM diagnosis to BM ≤ 22 months (p = 0.03), ≤ 3 BM sites (p = 0.002), and craniectomy (p = 0.05). Multivariate model revealed three variables associated with OS: DTC diagnosis to BM time < 3 years (p = 0.04), *
“…Therefore, the authors suggested that the majority of anaplastic thyroid carcinomas arise de novo rather than through clonal transformation of well-differentiated thyroid carcinomas [ 80 ]. However, the genetic alterations in cases of poorly differentiated thyroid carcinomas arising within a nodule of goiter, thus paradigmatic of de novo origin, are unspecific (i.e., NRAS mutations) [ 81 ]. Fig.…”
Section: Molecular Mechanisms Of Progression From Well-differentiatedmentioning
The molecular characterization of poorly and anaplastic thyroid carcinomas has been greatly improved in the last years following the advent of high throughput technologies. However, with special reference to genomic data, the prevalence of reported alterations is partly affected by classification criteria. The impact of molecular pathology in these tumors is multifaceted and bears diagnostic, prognostic, and predictive implications although its use in the clinical practice is not completely assessed. Genomic profiling data claim that genetic alterations in poorly differentiated and anaplastic thyroid carcinomas include “Early” and “Late” molecular events, which are consistent with a multi-step model of progression. “Early” driver events are mostly RAS and BRAF mutations, whereas “Late” changes include above all TP53 and TERT promoter mutations, as well as dysregulation of gene involved in the cell cycle, chromatin remodeling, histone modifications, and DNA mismatch repair. Gene fusions are rare but represent relevant therapeutic targets. Epigenetic modifications are also playing a relevant role in poorly differentiated and anaplastic thyroid carcinomas, with altered regulation of either genes by methylation/deacetylation or non-coding RNAs. The biological effects of epigenetic modifications are not fully elucidated but interfere with a wide spectrum of cellular functions. From a clinical standpoint, the combination of genomic and epigenetic data shows that several molecular alterations affect druggable cellular pathways in poorly differentiated and anaplastic thyroid carcinomas, although the clinical impact of molecular typing of these tumors in terms of predictive biomarker testing is still under exploration.
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