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Endocrinology and Metabolism (Seoul,... Mar 2019Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies of differentiated thyroid carcinoma (DTC)... (Review)
Review
Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies of differentiated thyroid carcinoma (DTC) using massively-parallel sequencing (MPS) have been published. Recent advances in MPS technology have started to provide important insights into the molecular pathogenesis of DTC. In the genomic landscape, the most recurrently altered genes in DTC, which has a low mutational burden relative to other cancers, are , , and fusion genes. Some novel driver candidates also have been identified. The frequency of these genomic alterations varies across the subtypes of DTC (classical PTC, follicular variant of PTC, and follicular thyroid carcinoma). Telomerase reverse transcriptase () promoter mutations are the alteration that makes the most important contribution to the progression of DTC. In the transcriptomic landscape, DTC can be classified according to its gene expression profile, and each subtype has a distinct mutational profile, intracellular signaling output, and clinicopathological characteristics. Herein, we review the results of genomic studies using MPS technology, and describe the types and frequencies of genomic alterations according to histological classifications of DTC and the characteristics and significance of the gene expression signatures of DTC.
Topics: Adenocarcinoma, Follicular; Carcinoma, Papillary; Female; Genomics; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; Oncogene Proteins, Fusion; Promoter Regions, Genetic; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins p21(ras); Telomerase; Thyroid Cancer, Papillary; Thyroid Neoplasms; Transcriptome
PubMed: 30912334
DOI: 10.3803/EnM.2019.34.1.1 -
Ear, Nose, & Throat Journal Dec 2017
Topics: Adenocarcinoma, Papillary; Humans; Nasopharyngeal Neoplasms
PubMed: 29236265
DOI: 10.1177/014556131709601203 -
The American Journal of Surgical... Oct 2023Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in...
Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma (DPA). The main objectives of the present study were (i) to provide an overview of the prevalence of previously identified oncogenic drivers in acral sweat gland tumors and (ii) to genetically characterize tumors in which no recurrent genetic alteration has been identified yet. Cases of acral sweat gland tumors were identified from the database of the French network CARADERM. After histologic review, the presence of previously identified genetic alterations was investigated in the entire cohort (n=79) using a combination of immunohistochemistry and targeted DNA and RNA sequencing. Tumor entities with no recurrent genetic alterations were submitted to whole-transcriptome sequencing. CRTC1::MAML2 fusion was identified in cases of hidradenoma and hidradenocarcinoma (n=9/12 and n=9/12). A p.V600E mutation of BRAF was observed in all cases of tubular adenoma (n=4). YAP1:MAML2 and YAP1::NUTM1 fusions were observed in poroid tumors (n=15/25). ETV6::NTRK3 and TRPS1::PLAG1 fusion transcripts were identified in secretory carcinoma (n=1/1) and cutaneous mixed tumors (n=3/4), respectively. The HPV42 genome was detected in most cases of DPA (n=10/11) and in 1 adnexal adenocarcinoma not otherwise specified. Finally, whole-transcriptome analysis revealed BRD3::NUTM1 or NSD3::NUTM1 fusions in 2 cases of NUT adnexal carcinoma and NCOA4::RET and CCDC6::RET fusion transcripts in 2 cystadenoma/hidrocystoma-like tumors. Our study confirms distinctive cytogenetic abnormalities in a wide number of acral adnexal neoplasms and supports the use of molecular analysis as a valuable aid in the diagnosis of these rare and often difficult to diagnose group of neoplasms.
Topics: Humans; Sweat Gland Neoplasms; Skin Neoplasms; Carcinoma; Acrospiroma; Transcription Factors; Adenocarcinoma, Papillary; Repressor Proteins
PubMed: 37505808
DOI: 10.1097/PAS.0000000000002098 -
Open Medicine (Warsaw, Poland) 2020Primary pulmonary papillary adenocarcinoma (PA) is a specific and rare subtype of invasive pulmonary adenocarcinoma (ADC). The knowledge concerning the clinicopathologic...
BACKGROUND
Primary pulmonary papillary adenocarcinoma (PA) is a specific and rare subtype of invasive pulmonary adenocarcinoma (ADC). The knowledge concerning the clinicopathologic features and prognosis of patients with primary pulmonary PA has not been clarified because of its rarity.
METHODS
The clinical data of a total of 3391 patients with primary pulmonary PA were retrospectively analyzed to confirm their clinical characteristics and factors influencing prognosis and were in comparison with 3236 patients with non- PA pulmonary adenocarcinoma. All patients were histologically diagnosed between 1988 and 2015 in The Surveillance Epidemiology and End Results (SEER) database. A nomogram with satisfactory predictive performance was established to visually predict long-term survival of these patients.
RESULTS AND CONCLUSION
Collectively, primary pulmonary PA is a rare pathological cancer and its prognosis is analogous to that of non-PA pulmonary adenocarcinoma. Older age, larger lesions, distant metastases, lymph node invasion, and poor pathological differentiation are correlative with unacceptable prognosis. Surgical intervention is conducive to reaping favorable prognosis. Unfortunately, radiotherapy or chemotherapy results of no significant effects on patient survival. In our study, a nomogram with prognostic function is formulated to confer individual prediction of overall survival (OS).
PubMed: 32195357
DOI: 10.1515/med-2020-0014 -
Pathologica Mar 2019
Topics: Adenocarcinoma; Female; Humans; Thyroid Cancer, Papillary; beta Catenin
PubMed: 31217615
DOI: 10.32074/1591-951X-66-18 -
Clinical Endoscopy Sep 2016Endoscopic submucosal dissection (ESD) enables curative resection of early gastric cancers (EGCs) with a negligible risk of lymph node metastasis (LNM). Although ESD... (Review)
Review
Endoscopic submucosal dissection (ESD) enables curative resection of early gastric cancers (EGCs) with a negligible risk of lymph node metastasis (LNM). Although ESD for EGCs with absolute and expanded indications is safe, the results differ between EGCs with specialized and common histologies. EGC with papillary adenocarcinoma is a differentiated-type adenocarcinoma. At present, it is treated with ESD according to the same criteria as other differentiated-type adenocarcinomas. The LNM rate under the current indication criteria is high, and over half of the patients who undergo ESD as a primary treatment for EGC with papillary adenocarcinoma achieve an out-of-ESD result. Gastric carcinoma with lymphoid stroma in EGC has a low LNM rate and a favorable outcome, despite deep submucosal invasion. Patients with this gastric cancer subtype may be good candidates for ESD, even with deep submucosal invasion. Large-scale prospective multi-center studies with longer follow-up periods are needed to set proper ESD criteria for these tumors. Clinicians should be aware of these disease entities and ESD should be more carefully considered for EGCs with papillary adenocarcinoma and gastric carcinoma with lymphoid stroma.
PubMed: 27744663
DOI: 10.5946/ce.2016.127 -
Journal of Endocrinological... May 2021Familial non-medullary thyroid carcinoma (FNMTC), mainly of papillary histotype (FPTC), is defined by the presence of the disease in two or more first-degree relatives... (Review)
Review
BACKGROUND
Familial non-medullary thyroid carcinoma (FNMTC), mainly of papillary histotype (FPTC), is defined by the presence of the disease in two or more first-degree relatives in the absence of other known familial syndromes. With the increasing incidence of PTC in the recent years, the familial form of the disease has also become more common than previously reported and constitutes nearly 10% of all thyroid cancers. Many aspects of FNMTC are debated, concerning both clinical and genetic aspects. Several studies reported that, in comparison with sporadic PTCs, FPTCs are more aggressive at disease presentation, while other authors reported no differences in the clinical behavior of sporadic and familial PTCs. For this reason, recent guidelines do not recommend screening of family members of patients with diagnosis of differentiated thyroid cancer (DTC). FNMTC is described as a polygenic disorder associated with multiple low- to moderate-penetrance susceptibility genes and incomplete penetrance. At the moment, the genetic factors contributing to the development of FNMTC remain poorly understood, though many putative genes have been proposed in the recent years.
PURPOSE
Based on current literature and our experience with FNMTC, in this review, we critically discussed the most relevant controversies, including its definition, the genetic background and some clinical aspects as screening and treatment.
Topics: Carcinoma, Papillary; Early Detection of Cancer; Genetic Predisposition to Disease; Humans; Patient Care Management; Thyroid Cancer, Papillary
PubMed: 33025555
DOI: 10.1007/s40618-020-01435-x -
Frontiers in Endocrinology 2023Differentiated thyroid cancer (DTC) is rare in childhood and adolescence although it represents the most frequent endocrine malignancy in this population. DTC includes... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Differentiated thyroid cancer (DTC) is rare in childhood and adolescence although it represents the most frequent endocrine malignancy in this population. DTC includes both papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC). Most pediatric DTCs are PTCs, while FTCs are rare. To date, no systematic reviews on the global epidemiology of pediatric and adolescent DTC have been published. This systematic review and meta-analysis aims to estimate the overall incidence and prevalence of DTCs in patients aged 0-19 years.
METHODS
The systematic research was conducted from January 2000 to December 2021 through MEDLINE via PubMed, Cochrane Library, and Embase databases. Two separate meta-analyses were performed for PTC and FTC.
RESULTS
After the selection phase, a total of 15 studies (3,332 screened) met the inclusion criteria and are reported in the present systematic review. Five studies were conducted in Europe, five in North America, two in South America, one in Asia, one reported data for 49 countries and territories across the five continents, and one from both the USA and Africa. Most of the studies ( = 14) reported data obtained from national registries, and only one provided information collected from hospital medical records. Beyond the actual trend over time, our study reported a pooled global incidence rate (IR) of PTC and FTC in the pediatric age of 0.46 (95% CI: 0.33-0.59) and 0.07 (95% CI: 0.02-0.12) per 100,000 person-years, respectively. The highest IRs were recorded among Caucasian girls, and the lowest in black or other races/ethnicities.
CONCLUSION
Our data confirm that DTC in the pediatric population is a rare condition. The pooled IRs of the studies included in this meta-analysis are ~0.5 for PTC, which is the most common histological type when both genders and all age groups are considered. The implementation of a prospective international registry on pediatric DTC, as part of the wider European Registries for Rare Endocrine Conditions, has been recently proposed. In addition to providing relevant information on the clinical behavior of this rare disease, standardization of data collection will be pivotal to fill current gaps and allow an accurate estimation of the real incidence and risk factors of DTC.
Topics: Adolescent; Humans; Child; Male; Female; Incidence; Prevalence; Prospective Studies; Carcinoma, Papillary; Thyroid Neoplasms; Adenocarcinoma, Follicular; Thyroid Cancer, Papillary
PubMed: 37795368
DOI: 10.3389/fendo.2023.1270518 -
Atencion Primaria Nov 2018Overdiagnosis of cancer is the detection of asymptomatic cancers that do not grow or they are growing with such slowness, that they would never have caused medical...
Overdiagnosis of cancer is the detection of asymptomatic cancers that do not grow or they are growing with such slowness, that they would never have caused medical problems in the patient during the course of their life. Often they are tumours that are detected through population screenings but also in the clinical context due to incidental findings from image tests with advanced technology. Some of these tumours could even disappear spontaneously without treatment. The patient may die as a result of another disease before the cancer has caused symptoms. For that reason, the diagnosis of these tumours is an important cause of over-treatment, which can include serious risks and toxicity. Although overdiagnosis can occur in any disease, it is more relevant in the case of cancer.
Topics: Adenocarcinoma; Asymptomatic Diseases; Breast Neoplasms; Carcinoma, Ductal, Breast; Female; Humans; Incidental Findings; Male; Medical Overuse; Neoplasm Grading; Neoplasm Regression, Spontaneous; Neoplasms; Prostatic Neoplasms; Thyroid Cancer, Papillary; Thyroid Neoplasms; Watchful Waiting
PubMed: 30268494
DOI: 10.1016/j.aprim.2018.08.002 -
Journal of Surgical Case Reports Jun 2023Adenocarcinoma is extremely uncommon in the digits with an incidence of 0.08 per 1 000 000 people per year, known as digital papillary adenocarcinoma (DPA). This...
Adenocarcinoma is extremely uncommon in the digits with an incidence of 0.08 per 1 000 000 people per year, known as digital papillary adenocarcinoma (DPA). This disease is commonly described pathologically as malignancy of the sweat glands. The fundamental histologic characteristics of DPA are the presence of papillary projections in cystic spaces in a multinodular tumor lined by epithelial cells. DPA are often delayed in diagnosis because of either misdiagnosis for benign lesions or underreporting, which can contribute to poor prognosis and metastasis. This report serves to present a case of recurrence observed in primary digital adenocarcinoma and to bring awareness to the topic as concrete management continues to develop.
PubMed: 37397064
DOI: 10.1093/jscr/rjad296