scholarly journals Mutation in Genes Encoding Key Functional Groups Additively Increase Mortality in Patients with BRAFV600E-Mutant Advanced Papillary Thyroid Carcinoma

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5846
Author(s):  
Eyun Song ◽  
Meihua Jin ◽  
Ahreum Jang ◽  
Min Ji Jeon ◽  
Dong Eun Song ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Functional Groups ◽  
Papillary Thyroid ◽  
Primary Tumors ◽  
Targeted Next Generation Sequencing ◽  
Genes Encoding ◽  
Group 3 ◽  
Mutation Group ◽  
Group 2

The prognosis of BRAFV600E-mutant papillary thyroid carcinoma (PTC) ranges from indolent to highly aggressive courses. To better define the genetic diversity of this subtype, we evaluated the survival according to the presence of an additional mutation in genes encoding functional groups (FGs) in BRAFV600E-mutant advanced PTC patients. Targeted next-generation sequencing was performed in primary tumors of 50 BRAFV600E-mutant PTCs with distant metastasis or aggressive variants. The mutation in genes encoding FGs included alterations in histone methyltransferases, SWI/SNF subunit, and the PI3K/AKT/mTOR pathway. The primary outcome was overall survival (OS). Fifteen patients only had the BRAFV600E-mutation (group 1), 22 had BRAFV600E and mutation other than FGs (group 2), and 13 had BRAFV600E and FG mutation (group 3). OS was significantly lower in patients with FG mutations (p = 0.001) than those without, and group 3 patients had the worst survival (p = 0.004). OS significantly varied among none, one, or two FG mutation sites (p = 0.005). Presence of FG mutation was independently associated with increased mortality (hazard ratio 11.65, 95% confidence interval 1.39–97.58, p = 0.024). Coexistence of mutations in BRAFV600E and genes encoding FGs was associated with high mortality. Identification of FG mutation in BRAFV600E-mutant PTCs may be valuable in risk stratifying this subtype.

scholarly journals Association between Tumor Size and Bilateral Involvement in Papillary Thyroid Carcinoma

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Suna Erkilic ◽  
Fatih Celenk ◽  
Zehra Bozdag
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Tumor Size ◽  
Surgical Procedure ◽  
Tertiary Care ◽  
Papillary Thyroid ◽  
Tertiary Care Medical Center ◽  
Group 3 ◽  
Group 2 ◽  
Group 1

Background. Tumor multifocality and bilaterality of papillary thyroid carcinoma (PTC) are important factors when selecting the most appropriate surgical procedure. The aim of this study was to assess the bilaterality rate in PTC and the relationship between the tumor size and bilaterality.Materials and Methods. Thyroidectomy specimens with a diagnosis of PTC were retrospectively reviewed in the Pathology Department of a tertiary care medical center. Specimens were divided into three groups according to the size of the primary and contralateral tumor foci. Tumors less than or equal to 1 cm in each lobe were included in group 1. Group 2 consisted of tumors greater than 1 cm in one lobe and less than 1 cm in the other lobe. Tumors greater than 1 cm in each lobe were included in group 3.Results. We identified 868 total thyroidectomy specimens with a diagnosis of PTC between 2001 and 2011. Of these cases, both thyroid lobes were involved in 262 cases (32%). There were 109 (42%), 121 (46%), and 32 cases (12%) in group 1, group 2, and group 3, respectively.Conclusion. Bilaterality is frequent in PTC and is not related to tumor size. Accordingly, the high frequency of bilateral disease in PTC should be kept in mind when determining the extent of the surgical procedure.

scholarly journals Genetic Determinants for Prediction of Outcome of Patients with Papillary Thyroid Carcinoma

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2048
Author(s):  
Antónia Afonso Póvoa ◽  
Elisabete Teixeira ◽  
Maria Rosa Bella-Cueto ◽  
Rui Batista ◽  
Ana Pestana ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Patient Outcomes ◽  
Genetic Alterations ◽  
Papillary Thyroid ◽  
Tissue Samples ◽  
Primary Tumors ◽  
Persistent Disease ◽  
Increased Risk ◽  
Structural Disease

Papillary thyroid carcinoma (PTC) usually presents an excellent prognosis, but some patients present with aggressive metastatic disease. BRAF, RAS, and TERT promoter (TERTp) genes are altered in PTC, and their impact on patient outcomes remains controversial. We aimed to determine the role of genetic alterations in PTC patient outcomes (recurrent/persistent disease, structural disease, and disease-specific mortality (DSM)). The series included 241 PTC patients submitted to surgery, between 2002–2015, in a single hospital. DNA was extracted from tissue samples of 287 lesions (primary tumors and metastases). Molecular alterations were detected by Sanger sequencing. Primary tumors presented 143 BRAF, 16 TERTp, and 13 RAS mutations. Isolated TERTpmut showed increased risk of structural disease (HR = 7.0, p < 0.001) and DSM (HR = 10.1, p = 0.001). Combined genotypes, BRAFwt/TERTpmut (HR = 6.8, p = 0.003), BRAFmut/TERTpmut (HR = 3.2, p = 0.056) and BRAFmut/TERTpwt (HR = 2.2, p = 0.023) showed increased risk of recurrent/persistent disease. Patients with tumors BRAFwt/TERTpmut (HR = 24.2, p < 0.001) and BRAFmut/TERTpmut (HR = 11.5, p = 0.002) showed increased risk of structural disease. DSM was significantly increased in patients with TERTpmut regardless of BRAF status (BRAFmut/TERTpmut, log-rank p < 0.001; BRAFwt/TERTpmut, log-rank p < 0.001). Our results indicate that molecular markers may have a role in predicting PTC patients’ outcome. BRAFmut/TERTpwt tumors were prone to associate with local aggressiveness (recurrent/persistent disease), whereas TERTpmut tumors were predisposed to recurrent structural disease and DSM.

scholarly journals Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

2017 ◽  
Vol 24 (2) ◽  
pp. 107-117 ◽  
Author(s):  
Luca Morandi ◽  
Alberto Righi ◽  
Francesca Maletta ◽  
Paola Rucci ◽  
Fabio Pagni ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Cox Regression ◽  
Gene Mutations ◽  
Molecular Data ◽  
Genetic Alterations ◽  
Papillary Thyroid ◽  
Primary Tumors ◽  
Mutational Pattern ◽  
Prognostic Stratification

Hobnail variant of papillary thyroid carcinoma (HPTC) represents a recently described, aggressive and rare group of thyroid tumors with poorly understood pathogenesis. Molecular data about this group of cancers are few, and a more detailed molecular characterization of these tumors is needed. The main objective of the study is to define a comprehensive molecular typing of HPTC. Eighteen patients affected by HPTC, including eighteen primary tumors and four lymph node metastases, were screened forNRAS,KRAS,HRAS,BRAF,TP53,PIK3CA,hTERT,PTEN,CDKN2A,EGFR,AKT1,CTNNB1andNOTCH1gene mutations. Sequencing is conducted on the MiSEQ system, and molecular data are compared with clinical-pathologic data and follow-up. The patients include 14 women and 4 men. Ages range from 23 to 87 years. All 18 primary tumors of HPTC showed ≥30% hobnail features.BRAFandTP53mutations are by far the most common genetic alterations in primary HPTC (72.2% and 55.6%, respectively), followed byhTERT(44.4%),PIK3CA(27.8%),CTNNB1(16.7%),EGFR(11.1%),AKT1(5.5%) andNOTCH1(5.5%). The mutational pattern in primary tumors and metastasis was usually maintained. Univariate Cox regression analyses with bootstrap procedure indicated a significantly increased mortality risk in patients harboringBRAFmutation andBRAFmutation associated withTP53and/orPIK3CAmutations. The detection of these multiple mutations appears to allow the identification of a subset of more aggressive tumors within the group and to bear information that should be useful for prognostic stratification of these patients including the planning of adjuvant therapy.

scholarly journals Synchronous Papillary Thyroid Carcinoma and Breast Ductal Carcinoma: A Case Report

2021 ◽  
Author(s):  
Hedieh Moradi Tabriz ◽  
Arezoo Eftekhar Javadi ◽  
Atieh Zandnejadi ◽  
Adel Yazdankhah ◽  
Reza Hajebi
Keyword(s):  
Breast Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Ductal Carcinoma ◽  
Incidence Rates ◽  
Breast Cancers ◽  
Papillary Thyroid ◽  
Breast Cancer Patients ◽  
Cervical Lymph Nodes ◽  
Primary Tumors

Breast cancer was the most frequent cause of cancer-induced death among middle-aged (20- 59) women in the last decade. In contrast, the incidence rates of thyroid cancer have begun to stabilize in recent years. The synchronous neoplasms of thyroid and breast cancers are very rare in clinical settings. The current study presented a case of synchronous Papillary Thyroid Carcinoma (PTC) and breast ductal carcinoma in a 37-year-old woman. It is proposed that the mechanism of these synchronous primary tumors is associated with an interaction between the breast and thyroid hormonal responses. It is essential to examine breast tissue in patients with thyroid carcinoma or vice versa. In our case, although axillary sentinel lymph node was free from the tumor, cervical lymph nodes were involved by breast carcinoma; suggesting the importance of cervical examination in breast cancer patients.

scholarly journals Prognosis of low-risk papillary thyroid carcinoma patients: Its relationship with the size of primary tumors

2012 ◽  
Vol 59 (2) ◽  
pp. 119-125 ◽  
Author(s):  
Yasuhiro Ito ◽  
Takumi Kudo ◽  
Minoru Kihara ◽  
Yuuki Takamura ◽  
Kaoru Kobayashi ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Low Risk ◽  
Papillary Thyroid ◽  
Primary Tumors

scholarly journals Coexistence of Malignant Struma Ovarii and Cervical Papillary Thyroid Carcinoma

2013 ◽  
Vol 98 (12) ◽  
pp. 4599-4605 ◽  
Author(s):  
Aaron Leong ◽  
Philip J. R. Roche ◽  
Miltiadis Paliouras ◽  
Louise Rochon ◽  
Mark Trifiro ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Gland ◽  
Thyroid Carcinoma ◽  
Braf V600e ◽  
Field Cancerization ◽  
Cytokeratin 19 ◽  
Struma Ovarii ◽  
Papillary Thyroid ◽  
Primary Tumors ◽  
Malignant Struma Ovarii

Context: Struma ovarii is an uncommon monodermal teratoma in which thyroid tissue is the predominant element. Malignant transformation of struma ovarii is an even rarer occurrence. Case Presentation: We describe a 42-year-old woman who underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy for a symptomatic left pelvic mass. Histology revealed malignant struma ovarii with classical papillary thyroid carcinoma expression. Ultrasonography of the cervical neck showed thyroid micronodules and a dominant 1-cm nodule in the left thyroid lobe. As the ovarian tumor was large, the patient underwent a total thyroidectomy with the intention of administering 131I therapy in an adjuvant setting. Histology of the cervical thyroid gland revealed bilateral multifocal papillary thyroid carcinoma with extrathyroidal extension and perithyroidal lymph node metastasis. Methods: Morphological (microscopy), immunohistochemical (Hector Battifora mesothelial cell 1, cytokeratin-19, galectin-3), and molecular (BRAF V600E, RAS, RET-PTC) characteristics and clonality analysis of the cervical thyroid and ovarian tumors were explored to distinguish them as separate malignancies. Results: The thyroid-type tumors from the cervical gland and ovary were discordant in terms of tissue histology and level of cytokeratin-19 expression. The clinical features and tumor profile results supported the independent existence of these two embryologically related, although topographically distinct, malignancies. Conclusion: Our findings provided support for synchronous, albeit distinct, primary tumors in the ovary and cervical thyroid. “Field cancerization” and early genomic instability may explain multifocality in all thyroid-type tissue. In this regard, patients with malignant struma ovarii should undergo imaging of their thyroid gland for coexisting disease and thyroidectomy recommended for suspected malignancy or in preparation for radioiodine therapy.

scholarly journals Triple Synchronous Tumors Presenting as Right Nasolabial Basal Cell Carcinoma, Papillary Thyroid Carcinoma and Prolactinoma: A Rare Case Report

2020 ◽  
Vol 35 (2) ◽  
pp. 200-209
Author(s):  
Mateo Te ◽  
◽  
Donnah Bless Lumanlan-Mosqueda ◽  
KennyJun Demegillo
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Basal Cell Carcinoma ◽  
Thyroid Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Serum Prolactin ◽  
Papillary Thyroid ◽  
Synchronous Tumors ◽  
Primary Tumors ◽  
The Right

Multiple primary tumors are rare, with a published meta-analysis that shows the frequency of second primary tumor at 3-5%, and a third tumor at 0.5%. A 57-year-old female sought consultation due to a persistently bleeding right nasolabial mass. On further history and examination, she also presented with a right anterior neck mass, repeated abortions, secondary amenorrhea, and loss of libido years prior. Serum prolactin was significantly elevated and an incidental finding of a pituitary mass on head and neck CT scan was appreciated. Metastasis and syndromic familial disorder were ruled out. Bromocriptine was given and she underwent total thyroidectomy and wide excision of the right nasolabial mass which turned out to be papillary thyroid carcinoma (PTC) and basal cell carcinoma (BCC) respectively on histopathologic report. On follow up, repeat serum prolactin decreased to normal levels. After extensive literature review, this is the first documented case of triple synchronous tumors with a combination of BCC of the right nasolabial area, PTC and prolactinoma in local, national and international studies. With comprehensive work up and literature search, the diagnosis was established and ultimately the patient benefited from a multidisciplinary management.

scholarly journals Significance of TNF-αand the Adhesion Molecules: L-Selectin and VCAM-1 in Papillary Thyroid Carcinoma

2016 ◽  
Vol 2016 ◽  
pp. 1-17 ◽  
Author(s):  
Toral P. Kobawala ◽  
Trupti I. Trivedi ◽  
Kinjal K. Gajjar ◽  
Darshita H. Patel ◽  
Girish H. Patel ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Adhesion Molecules ◽  
Serum Levels ◽  
Thyroid Diseases ◽  
Papillary Thyroid ◽  
Primary Tumors ◽  
Aggressive Tumor ◽  
Circulating Levels ◽  
Benign Thyroid

Circulating levels of TNF-αand the adhesion molecules L-Selectin and VCAM-1 as well as their expression in the primary tumors of patients with benign thyroid diseases and papillary thyroid carcinoma (PTC) have been determined in this study. The serum levels of TNF-α, L-Selectin, and VCAM-1 were significantly higher in patients with both benign thyroid diseases and PTC as compared to the healthy individuals. However, the levels of only TNF-αand L-Selectin, and not VCAM-1, were significantly higher in patients with PTC in comparison to those observed in patients with benign thyroid diseases. Further the expression of TNF-αand L-Selectin was also significantly higher in the primary tumors of PTC patients, relative to the benign thyroid diseases. The expression of L-Selectin and VCAM-1 significantly correlated with aggressive tumor behavior. In PTC patients, the circulating TNF-αlevels significantly positively correlated with the levels of L-Selectin, while TNF-αimmunoreactivity was significantly associated with VCAM-1 expression. Serum TNF-αwas found to be a significant prognosticator for OS in PTC patients. Overall the results signify that the interaction between TNF-αand the adhesion molecules may have a role in thyroid carcinogenesis and understanding this complexity may offer potential therapeutic targets for better management of thyroid cancer.

Sign in / Sign up

Export Citation Format

Share Document