1.Current Aspects of Clonal Hematopoiesis: Implications for Clinical Diagnosis
Kristin KARNER ; Tracy I GEORGE ; Jay L PATEL
Annals of Laboratory Medicine 2019;39(6):509-514
The broad dissemination of next-generation sequencing capability has increased recognition of clonal hematopoiesis in various clinical settings. In hematologically normal individuals, somatic mutations may occur at an increasing frequency with age in genes that are also commonly mutated in overt myeloid malignancies such as AML and MDS (e.g., DNMT3A, TET2, and ASXL1). This is referred to as clonal hematopoiesis of indeterminate potential (CHIP) and is a benign state; however, it carries a risk of progression to hematologic malignancy as well as mortality primarily because of increased cardiovascular events. In clinical settings, clonal hematopoiesis may be observed in cytopenic patients who do not otherwise meet the criteria for hematologic malignancy, a condition referred to as clonal cytopenias of undetermined significance (CCUS). Distinguishing CCUS from overt MDS or other myeloid neoplasms can be challenging because of the overlapping mutational landscape observed in these conditions. Genetic features that could be diagnostically helpful in making this distinction include the number and biological function of mutated genes as well as the observed variant allele frequency. A working knowledge of clonal hematopoiesis is essential for the diagnosis and clinical management of patients with hematologic conditions. This review describes the key characteristics of clonal hematopoiesis with particular focus on implications for differential diagnosis in patients with CHIP, idiopathic cytopenia, CCUS, and myeloid malignancy.
Diagnosis
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Diagnosis, Differential
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Gene Frequency
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Hematologic Neoplasms
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Hematopoiesis
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Humans
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Mortality
2.Screening the High Risk Patient for Gynaecological Cancer.
Yonsei Medical Journal 2002;43(6):717-721
It is often difficult to conclude that improvements in survival with time are due to a screening programme alone. Although a reduction in the death rate from a given cancer may reflect the benefits of early detection or improved treatment, the benefits may also result from lead time bias and over-diagnosis, the former resulting in longer survival of screen-identified cancers because the time before the cancer would have been clinically diagnosed is included in calculations. Furthermore, recent reviews on randomised clinical trials of cancer screening have provided strong evidence that misclassifications in causes of death have been a major problem, leading to an over-estimation of the effectiveness (or alternatively an under-estimation of potential harm) of screening.
Cervix Neoplasms/*diagnosis
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Endometrial Neoplasms/diagnosis
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Female
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Genital Neoplasms, Female/*diagnosis/epidemiology/mortality
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Human
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Incidence
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Ovarian Neoplasms/diagnosis
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Risk
3.Fibromyalgia syndrome after comprehensive treatment of breast cancer: a case report.
Xia DING ; Yan LI ; Yiyi CUI ; Yingying SHEN ; Jianzhong GU ; Yong GUO
Journal of Zhejiang University. Medical sciences 2016;45(4):429-431
Fibromyalgia syndrome after comprehensive treatment of breast cancer is rare and seldom reported. Here we present a case of a 50-year-old female patient,who was admitted to the hospital because of generalized fibromyalgia for 3 months and brain metastasis after the right breast carcinoma surgery for 1 month, and the clinical diagnosis was brain metastasis from breast carcinoma combined with fibromyalgia syndrome. The fibromyalgia were relieved with proper symptomatic treatment but the patient eventually died of tumor progression.
Brain Neoplasms
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mortality
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secondary
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Breast Neoplasms
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complications
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mortality
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therapy
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Carcinoma
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mortality
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therapy
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Female
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Fibromyalgia
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diagnosis
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etiology
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therapy
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Humans
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Middle Aged
4.Stereotaxic Biopsy for Brain Tumors Using C-T Brain Scanning.
Sang Sup CHUNG ; Hyoung Chun PARK ; Joong Uhn CHOI ; Young Soo KIM ; Kyu Chang LEE ; Hun Jae LEE
Journal of Korean Neurosurgical Society 1979;8(2):387-392
Stereotaxic biopsy is an useful technique as an alternative to craniotomy for the tissue diagnosis of the intracranial tumors, especially such as deep seated tumor or malignant neoplasm in the dominant hemisphere. Such biopsy was more safe and lesser expensive than any other procedures and had high accuracy. For the purpose of more accuracy, the authors inserted small steel ball marker at the biopsy site and performed repeat C-T brain scanning immediately after the operation. We could confirm the marker in the tumor tissue on the C-T scans. The authors had experienced 4 cases of stereotaxic biopsy as follow; 2 cases of thalamic astrocytomas, 1 case of pineocytoma and 1 case of astrocytoma grade II in the dominant hemisphere. Neither mortality nor morbidity was noted.
Astrocytoma
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Biopsy*
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Brain Neoplasms*
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Brain*
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Craniotomy
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Diagnosis
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Mortality
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Pinealoma
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Steel
5.Usefulness of 7th UICC/AJCC Classification for Stomach Cancer in Korean Patients.
The Korean Journal of Gastroenterology 2011;58(5):233-234
No abstract available.
Female
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Humans
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Male
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*Neoplasm Staging
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Stomach Neoplasms/*diagnosis/*mortality
6.Detection of Microcalcifications in Digital Mammograms Using Foveal Method.
Whi Vin OH ; Kwanggi KIM ; Young Jae KIM ; Hansung KANG ; Jungsil RO ; Wookyung MOON
Journal of Korean Society of Medical Informatics 2009;15(1):165-172
OBJECTIVE: Breast cancer represents themost frequently diagnosed cancer in women. In order to reduce mortality, early detection of breast cancer is important, because diagnosis is more likely to be successful in the early stages of the disease. On the average, the reader's sensitivity can be increased by 10%with the assistance of computer-aided diagnosis (CAD) system. This paper presents a CAD system for the automatic detection of clustered micro-calcifications in digitized mammograms. METHODS: The proposed system consists of three main steps. First, breast region is segmented from original mammogram using contrast property of grey level co-occurrence matrix(GLCM). Second, potential micro-calcification pixels in the mammograms are detected by foveal method. Third, in order to reduce false-positive rate, individual micro-calcifications are detected by a set of 8 features extracted from the potential individual micro-calcification objects. RESULTS: In the result, Specificity and sensitivity are used to evaluate the detection performance of micro-calcifications.(sensitivity : 93.1%, specificity : 87.5%). CONCLUSION: This study could be a useful method for diagnosis of breast cancer as a CAD system.
Breast
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Breast Neoplasms
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Diagnosis
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Female
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Humans
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Mortality
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Sensitivity and Specificity
7.Clinical Implication of BRAF Mutation in Thyroid Cancer.
Korean Journal of Endocrine Surgery 2014;14(3):131-137
The BRAF(V600E) mutation is the most common genetic alteration and presents in 40~80% of all papillary thyroid cancer (PTC), showing the highest prevalence in the Korean population, close to 80%. Previous studies published in the past 10 years showed a significant correlation between BRAF(V600E) mutation and poor prognostic outcomes of PTC, including recurrence and mortality. Therefore, its clinical application for the diagnosis of thyroid nodule or for decisions regarding the management policy by prediction of the prognosis of thyroid cancer has been proposed. However, some recent studies have reported conflict results, and there appear to be growing concerns regard to the cost-benefit of tests for detection of the BRAF(V600E) mutation. In this paper, we reviewed previous studies regarding the BRAF(V600E) mutation and attempted to evaluate the clinical implication of the BRAF(V600E) mutation in clinical practice.
Diagnosis
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Mortality
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Prevalence
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Prognosis
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Recurrence
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Thyroid Neoplasms*
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Thyroid Nodule
8.Diagnosis and treatment of tracheal or bronchuotracheal adenoid cystic carcinoma.
Ming QIN ; Yu FU ; Daping YU ; Shaofa XU ; Ming HAN ; Zitong WANG
Chinese Journal of Lung Cancer 2010;13(6):628-631
BACKGROUND AND OBJECTIVEAdenoid cystic carcinoma is primary bronchopulmonary carcinoma with low malignancy, and 43 patients treated in the past 50 years in our hospital were retrospectively studied. The aim of this study is to discuss the clinical symptoms, pathologic characteristic and therapeutic method of primary tracheal or bronchuotracheal adenoid cystic carcinoma.
METHODSThis study summarized total 43 patients of primary tracheal or bronchus adenoid cystic carcinoma treated in our hospital from Jan. 1958 to Dec. 2007. Among them, 40 patients were treated by surgical resection, and 3 patients were treated by fiberoptic bronchoscope's interventional treatment.
RESULTSThe 1-yr, 3-yr, 5-yr survival rates of the 43 patients above were 100% (41/41), 89.5% (34/38), 87.1% (27/31), respectively.
CONCLUSIONPrimary tracheal or bronchus adenoid cystic carcinoma are rare and low malignancy carcinoma. The clinical symptoms of them are not typical. The best treatment is early detection and taking measures of operation plus radiotherapy. The other palliative treatment is fiberoptic bronchoscope's interventional treatment.
Adult ; Aged ; Bronchial Neoplasms ; diagnosis ; mortality ; surgery ; Carcinoma, Adenoid Cystic ; diagnosis ; mortality ; surgery ; Female ; Humans ; Male ; Middle Aged ; Prognosis ; Tomography, X-Ray Computed ; Tracheal Neoplasms ; diagnosis ; mortality ; surgery
9.Diagnosis and surgical management of mediastinal neurogenic tumors.
Zhiyong ZHANG ; Yidong ZHOU ; Yushang CUI ; Shanqing LI ; Heng ZHANG ; Li LI ; Zejian LI
Chinese Journal of Surgery 2002;40(9):676-678
OBJECTIVETo study the clinical manifestations, diagnostic methods, surgical management and prognosis of patients with neurogenic tumors of the mediastinum.
METHODOne hundred and ten patients with neurogenic tumors of the mediastinum were analyzed retrospectively.
RESULTSAfter operation, 2 patients died in hospitalization and 8 experienced such complications as Horner's syndrome or laryngeal recurrent nerve paralysis. In 102 patients with benign tumors, 2 patients had recurrence, and 4 patients with neurofibrosarcoma or malignant neurilemmoma died within 3 years postoperatively.
CONCLUSIONSMost neurogenic tumors of the mediastinum are benign and could be diagnosed by chest X-ray or CT. The clinical manifestations, diagnosis methods, surgical management of the dumbbell tumors differ from others. Minimal invasive surgery and video assist thoracoscopy surgery are of special value in treatment of the selected neurogenic tumors of the mediastinum. Benign neurogenic tumors rarely recur after complete resection, and malignant neurogenic tumors have poor prognosis.
Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Male ; Mediastinal Neoplasms ; diagnosis ; mortality ; surgery ; Middle Aged ; Neurilemmoma ; diagnosis ; mortality ; surgery ; Neurofibroma ; diagnosis ; mortality ; surgery ; Prognosis ; Retrospective Studies
10.Clinical features and prognosis of cervical adenocarcinoma and adenosquamous carcinoma: an analysis of 237 cases.
Qian CHEN ; Lu LIU ; Jingjing ZHANG ; Sai HAN ; Baoxia CUI ; Youzhong ZHANG ; Beihua KONG
Journal of Zhejiang University. Medical sciences 2018;47(4):357-361
OBJECTIVE:
To analyze the clinical features and prognosis of cervical adenocarcinoma (AC) and adenosquamous carcinoma of cervix (ASC).
METHODS:
The clinical data of 237 patients, including 201 cases of AC and 36 cases of ASC (FIGO stage ⅠB1-ⅡA), who underwent surgery in Qilu Hospital between September 2007 and September 2016 were reviewed. Clinical features of two groups were compared, and Kaplan-Meier survival analysis was performed to evaluate the prognosis.
RESULTS:
A larger proportion of ASC patients had lymphovascular space invasion compared with AC patients (<0.01), but no significant differences were observed in the age, FIGO stage, size of tumor, depth of stromal invasion, parametrial invasion, lymphatic metastasis and risk grade between two groups (all >0.05). The 5-year overall survival rates of AC and ASC groups were 79.4% and 78.3%, and the 5-year recurrence-free survival rates were 77.4% and 73.0%. Among patients received concurrent chemoradiotherapy, the 5-year overall survival rates were 71.0% and 61.4%, and the 5-year recurrence-free survival rates were 68.8% abd 61.1%, respectively. No significant differences were observed in 5-year overall survival rates and recurrence-free survival rates between AC and ASC patients (all >0.05).
CONCLUSIONS
Lymphovascular space invasion was more likely to occur in patients with ASC, but there was no significant difference in the prognosis between AC and ASC patients.
Adenocarcinoma
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diagnosis
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mortality
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Carcinoma, Adenosquamous
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diagnosis
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mortality
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Female
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Humans
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Neoplasm Staging
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Prognosis
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Retrospective Studies
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Survival Rate
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Uterine Cervical Neoplasms
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diagnosis
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mortality