Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome

Germline mutations affecting STK11 (LRG_319) are profoundly studied in relation to Peutz-Jeghers syndrome, predisposing to the development of various cancers at multiple sites. Though somatic mutations in STK11 are found to be present in several cancers, limited data on its involvement in sporadic breast cancer are available. The present study aims to evaluate the frequency and spectrum of genetic alterations in STK11 in a group of Bulgarian patients with sporadic breast cancer. A total of 73 tumor and 22 corresponding blood specimens derived from the patients, and 10 blood samples from clinically healthy controls were analyzed. High Resolution Melting analysis followed by Sanger sequencing and bioinformatic prediction tools were utilized. Seven patients (9.58%) harbored STK11 alterations, only two (2.74%) of which are exonic: one nonsense c.322A>T; p.K108X (deleterious) and one missense c.440G>A; p.Arg147His (of unknown significance). Two intronic variants were also observed: c.290+36G>T and c. *16+18C>A (novel). To our knowledge the results represent the first data indicating presence of STK11 alterations in patients with sporadic breast cancer. The limited number of the detected deleterious mutations indicates that mutational inactivation of the gene is a rare event and probably plays a minor role in sporadic breast carcinogenesis.

Download Full-text

Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

Clinical Case Reports ◽

10.1002/ccr3.2073 ◽

2019 ◽

Vol 7 (4) ◽

pp. 735-739

Author(s):

Yudian Qiu ◽

Tao Xuan ◽

Mujun Yin ◽

Zhidong Gao ◽

Peng Guo ◽

...

Keyword(s):

Genetic Analysis ◽

Clinical Characteristics ◽

Gene Mutations ◽

Peutz Jeghers Syndrome

Download Full-text

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

BMC Medical Genetics ◽

10.1186/s12881-018-0626-5 ◽

2018 ◽

Vol 19 (1) ◽

Cited By ~ 4

Author(s):

Yu-Liang Jiang ◽

Zi-Ye Zhao ◽

Bai-Rong Li ◽

Fu Yang ◽

Jing Li ◽

...

Keyword(s):

Signaling Pathway ◽

Gene Mutations ◽

Stk11 Gene ◽

P53 Signaling ◽

Cancer Phenotype ◽

Peutz Jeghers Syndrome ◽

P53 Signaling Pathway

Download Full-text

Association of Herpes Zoster Infection With Clinical Characteristics and MBL2 Gene Polymorphisms in Chinese Children With Systemic Lupus Erythematosus

The Pediatric Infectious Disease Journal ◽

10.1097/inf.0b013e3182127b67 ◽

2011 ◽

Vol 30 (8) ◽

pp. 656-660 ◽

Cited By ~ 5

Author(s):

Shun-An Wu ◽

Kou-Wei Yeh ◽

Tsung-Chieh Yao ◽

Jing-Long Huang

Keyword(s):

Systemic Lupus Erythematosus ◽

Herpes Zoster ◽

Lupus Erythematosus ◽

Gene Polymorphisms ◽

Clinical Characteristics ◽

Chinese Children ◽

Herpes Zoster Infection ◽

Systemic Lupus ◽

Mbl2 Gene

Download Full-text

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

10.21203/rs.3.rs-958870/v1 ◽

2021 ◽

Author(s):

Mei-Xia Huang ◽

Lu Qin ◽

Fei-Zhou Zhang ◽

Lei Wu ◽

Jia-Hui Yu ◽

...

Keyword(s):

Interstitial Lung Disease ◽

Lung Disease ◽

Clinical Characteristics ◽

Clinical Manifestations ◽

Failure To Thrive ◽

Surfactant Protein ◽

Chinese Children ◽

Common Mutation ◽

Onset Age ◽

Surfactant Dysfunction

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

Download Full-text

Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

Frontiers in Genetics ◽

10.3389/fgene.2021.652376 ◽

2021 ◽

Vol 12 ◽

Author(s):

Chongjun Wu ◽

Ting Xiong ◽

Zhongjin Xu ◽

Chunlei Zhan ◽

Feng Chen ◽

...

Keyword(s):

Blood Cell ◽

Red Blood Cell ◽

Clinical Characteristics ◽

Hemoglobin Concentration ◽

Chinese Children ◽

Test Results ◽

Test Analysis ◽

Genetic Characteristics ◽

Significant Difference ◽

Gene Test

ObjectiveTo investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.MethodsThe clinical data and gene test results of children with HS were collected. All patients were diagnosed by gene test results, and the laboratory results were obtained before splenectomy. The data of red blood cell (RBC), hemoglobin (HB), mean red blood cell volume (MCV), mean red blood cell hemoglobin (MCH), mean red blood cell hemoglobin concentration (MCHC), and hematocrit (HCT) were statistically analyzed according to different mutation genes. Statistical methods for comparison between groups Mann–Whitney test analysis, two-terminal p < 0.05 was considered significant difference.ResultsA total of 15 children were enrolled in our hospital, and 14 variants were found (nine variants have not been reported before), including 10 ANK1 mutations (seven ANK1 truncated mutations) and five SPTB mutations. Patients with ANK1 mutations had more severe anemia than those with SPTB mutations (significantly lower RBC, HB, MCHC, and HCT).ConclusionThis is one of the few studies on the genetic and clinical characteristics of children with HS in China. This study identified the unique genetic and clinical characteristics of Chinese children with HS and analyzed the pathogenic genotype–phenotypic association. The results confirmed that the anemia degree of HS patients caused by ANK1 was more serious than that of patients with SPTB deficiency. However, further study of the correlation between genotype and phenotype requires a larger sample size.

Download Full-text

A Case Report and Literature Review of Wilson Disease

Journal of Clinical and Nursing Research ◽

10.26689/jcnr.v4i3.1232 ◽

2020 ◽

Vol 4 (3) ◽

Author(s):

Panpan Chen ◽

Yingying Zhang ◽

Linqing Qiu ◽

Xinxin Yu

Keyword(s):

Wilson Disease ◽

Clinical Characteristics ◽

Clinical Manifestations ◽

Gene Mutations ◽

Hereditary Disease ◽

Abnormal Liver Function ◽

Atp7b Gene ◽

Literature Reference ◽

Urinary Copper

To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.

Download Full-text

Mutational activation of the K-ras oncogene and the effect of chemotherapy in advanced adenocarcinoma of the lung: a prospective study.

Journal of Clinical Oncology ◽

10.1200/jco.1997.15.1.285 ◽

1997 ◽

Vol 15 (1) ◽

pp. 285-291 ◽

Cited By ~ 63

Author(s):

S Rodenhuis ◽

L Boerrigter ◽

B Top ◽

R J Slebos ◽

W J Mooi ◽

...

Keyword(s):

Lung Cancer ◽

Clinical Characteristics ◽

Gene Mutations ◽

Close Relative ◽

Ras Gene ◽

Ras Mutation ◽

Ras Mutations ◽

Adenocarcinoma Of The Lung ◽

Response To Chemotherapy ◽

Mutational Activation

PURPOSE To determine whether the clinical course and the response to chemotherapy of patients with advanced adenocarcinoma of the lung depends on the presence or absence of a ras mutation in the tumor. Mutational activation of K-ras is a strong adverse prognostic factor in stage I or II lung cancer and laboratory studies have suggested that ras mutations lead to resistance against ionizing radiation and chemotherapy. PATIENTS AND METHODS Patients with advanced adenocarcinoma of the lung with measurable or assessable disease received chemotherapy with mesna, ifosfamide, carboplatin, and etoposide (MICE). Archival biopsies, fresh biopsies, or fine-needle aspirations were tested for the presence of ras gene mutations. Associations of ras mutations with clinical characteristics, response to chemotherapy, and survival were studied. RESULTS The presence or absence of ras gene mutations could be established in 69 of 83 patients (83%). A total of 261 courses of MICE were administered to 62 informative patients, 16 of whom were shown to have a K-ras mutation-positive tumor. The frequency of mutations (26%) and the type of mutations closely matched the pattern we have previously reported in operable disease. Patients with a ras mutation in their tumor were more likely to have a close relative with lung cancer, but other clinical characteristics, such as pattern of metastases, response, and survival, were similar between the ras mutation-positive and ras mutation-negative groups. CONCLUSION Patients with advanced lung adenocarcinoma who harbor a ras mutation may have major responses to chemotherapy and have similar progression-free and overall survival as patients with ras mutation-negative tumors. K-ras mutations may represent one of several ways in which early tumors are enabled to metastasize to distant sites.

Download Full-text