scholarly journals Coexisting Germline CHEK2 and Somatic BRAFV600E Mutations in Papillary Thyroid Cancer and Their Association with Clinicopathological Features and Disease Course

Cancers ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 1744 ◽  
Author(s):  
Danuta Gąsior-Perczak ◽  
Artur Kowalik ◽  
Agnieszka Walczyk ◽  
Monika Siołek ◽  
Krzysztof Gruszczyński ◽  
...  
Keyword(s):  
Treatment Response ◽  
Clinical Course ◽  
Repair Process ◽  
Clinicopathological Features ◽  
Older Age ◽  
Disease Outcome ◽  
Disease Course ◽  
Papillary Thyroid ◽  
Risk Treatment ◽  
Aggressive Clinical Course

BRAFV600E is the most common somatic mutation in papillary thyroid carcinoma (PTC) and the majority of evidence indicates that it is associated with an aggressive clinical course. Germline mutations of the CHEK2 gene impair the DNA damage repair process and increase the risk of PTC. Coexistence of both mutations is expected to be associated with poorer clinical course. We evaluated the prevalence of concomitant CHEK2 and BRAFV600E mutations and their associations with clinicopathological features, treatment response, and disease course in PTC patients. The study included 427 unselected PTC patients (377 women and 50 men) from one center. Relationships among clinicopathological features, mutation status, treatment response, and disease outcomes were assessed. Mean follow-up was 10 years. CHEK2 mutations were detected in 15.2% and BRAFV600E mutations in 64.2% patients. Neither mutation was present in 31.4% cases and both BRAFV600E and CHEK2 mutations coexisted in 10.8% patients. No significant differences in clinicopathological features, initial risk, treatment response, or disease outcome were detected among these patient groups. CHEK2 mutations were significantly associated with older age, while BRAFV600E was significantly associated with older age and extrathyroidal extension. The coexistence of both mutations was not associated with more aggressive clinicopathological features of PTC, poorer treatment response, or disease outcome.

scholarly journals Low urinary iodine is a protective factor of central lymph node metastasis in papillary thyroid cancer: a cross-sectional study

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Ziyang Zeng ◽  
Kang Li ◽  
Xianze Wang ◽  
Siwen Ouyang ◽  
Zimu Zhang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Protective Factor ◽  
Urinary Iodine ◽  
Iodine Intake ◽  
Clinicopathological Features ◽  
Papillary Thyroid ◽  
Central Lymph Node ◽  
High Iodine ◽  
Central Lymph

Abstract Background An abrupt increase of thyroid cancer has been witnessed paralleling the supplemented iodine intake in formerly iodine-deficient countries. And increased iodine intake has been linked to the rising incidence rate of papillary thyroid cancer (PTC). However, the correlation between iodine and clinicopathological features of PTC has not been well-characterized. This study aimed to investigate the associations between iodine intake and the clinicopathological features of PTC patients. Methods Three hundred and fifty-nine PTC patients who received surgical treatment in Peking Union Medical College Hospital from May 2015 to November 2020 were retrospectively reviewed. The associations between urinary iodine (UI), urinary iodine/creatinine ratio (UI/U-Cr), and the clinicopathological features of PTC were analyzed. Univariate and multivariate analysis were performed to investigate the relationship between UI level and central lymph node metastasis (CLNM). Results There were no significant differences in UI in different groups according to the variables studied, except that patients with CLNM had higher UI level than CLNM(−) patients. No associations were found between UI/U-Cr and clinicopathological features except variant subtypes (classic/follicular). After dividing patients into high-iodine group and low-iodine group, more patients were found to have CLNM in the high-iodine group (p = 0.02). In addition, younger age, larger tumor size, and classic variant were positively correlated with CLNM (p < 0.05). Univariate analysis showed that insufficient iodine intake (≤ 99 μg/L) was associated with decreased CLNM risk in PTC. And after defining insufficient iodine intake as ≤ 109 μg/L and above requirements as ≥ 190 μg/L, multivariate analysis showed that lower iodine was associated with CLNM in total population of PTC (OR 0.53, 95% CI 0.31–0.91) and in PTC < 1 cm (papillary thyroid microcarcinoma, PTMC) (OR 0.43, 95% CI 0.21–0.87). Conclusions Low iodine was a protective factor for CLNM in papillary thyroid cancer, particularly in those < 1 cm. These results indicated that iodine may not only be an initiator of tumorigenesis, but also a promoter of the development of PTC.

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 266-271 ◽  
Author(s):  
B Zakrzewska-Pniewska ◽  
M Styczynska ◽  
A Podlecka ◽  
R Samocka ◽  
B Peplonska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Brain Atrophy ◽  
Genetic Factors ◽  
Clinical Course ◽  
Progression Rate ◽  
Disease Course ◽  
Familial Cases ◽  
Sporadic Cases ◽  
The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

Mutations of CARD15 gene in Crohn's disease patients are more frequent in ASCA-positive with more aggressive clinical course. An Ig-IBD study

2003 ◽  
Vol 124 (4) ◽  
pp. A376
Author(s):  
Vito Annese ◽  
Arnaldo Andreoli ◽  
Bollani Serafina ◽  
Fabiana Castiglione ◽  
Mario Cottone ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Clinical Course ◽  
Card15 Gene ◽  
Aggressive Clinical Course

scholarly journals Nested variant of urothelial carcinoma of the urinary bladder

Rare Tumors ◽  
2011 ◽  
Vol 3 (4) ◽  
pp. 132-134 ◽  
Author(s):  
Tadashi Terada
Keyword(s):  
Urothelial Carcinoma ◽  
Lamina Propria ◽  
Bladder Tumor ◽  
Clinical Course ◽  
Carcinoma Cells ◽  
Ki 67 ◽  
Atypical Cells ◽  
Nested Variant ◽  
Aggressive Clinical Course ◽  
Nephrogenic Metaplasia

The nested variant of urothelial carcinoma (NVUC) is characterized by the presence of benign-appearing urothelial carcinoma cells in the lamina propria, sparing the surface urothelial involvement. NVUC shows aggressive clinical course despite of benign-looking histology. Herein reported are two cases of NVUC. One is 80-year-old woman, and another is 78-year-old man. In both cases, atypical cells forming nests and tubules were seen in the lamina propria without surface urothelial involvement. One case resembled nephrogenic metaplasia and another proliferated Brunn's nest or inverted papilloma. Immunohistochemically, both cases showed positive p53 and high Ki67 labeling, suggesting that both cases are malignant. Immunohistochemically, one case was characterized by positive cytokeratins, EMA, p53, Ki-67 (labeling=15%), α-methylacyl CoA racemase, CA19-9, and MUC1, and another case by positive cytokeratins, EMA, p63, p53, Ki-67 (lebeling=30%), CD10, CEA, and MUC1. Cyto keratin immunoprofiles were described and other antigens’ expressions were shown. The patients are now free of tumor 6 and 15 months after the resection of the bladder tumor.

Follicular Lymphoma With a Burkitt Translocation—Predictor of an Aggressive Clinical Course: A Case Report and Review of the Literature

2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  
Keyword(s):  
Case Report ◽  
Follicular Lymphoma ◽  
Clinical Course ◽  
Lymphoblastic Leukemia ◽  
Initial Diagnosis ◽  
Indolent Lymphoma ◽  
Review Of The Literature ◽  
Cell Type ◽  
Aberrant Expression ◽  
Aggressive Clinical Course

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.

scholarly journals Atypical clinical course of cerebral arachnoid cyst

2015 ◽  
Vol 17 (2) ◽  
pp. 77
Author(s):  
A. L. Krivoshapkin ◽  
A. V. Gorbatykh ◽  
A. S. Gaytan ◽  
P. A. Semin ◽  
V. V. Kobozev
Keyword(s):  
Surgical Treatment ◽  
Intracranial Pressure ◽  
Female Patient ◽  
Arachnoid Cyst ◽  
Clinical Course ◽  
Operative Management ◽  
Middle Cranial Fossa ◽  
Raised Intracranial Pressure ◽  
Cranial Fossa ◽  
Aggressive Clinical Course

In this publication we report a case of atypical, aggressive clinical course of arachnoid cyst in 19-year old female patient, which caused raised intracranial pressure and disruption of bony structures of the middle cranial fossa and the orbit. It also describes peculiarities of operative management and results of surgical treatment of this patient.

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