• Journal of Genetic Medicine
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• 제4권1호
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• pp.15-21
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• 2007

Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

• 대한골관절종양학회지
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• 제10권2호
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• pp.138-141
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• 2004

골연골종은 수부에서는 매우 드문 질환이지만 유전성 다발성 외골종의 경우는 수지골, 특히 성장판 부위의 기저부에 빈번하게 발생하며 수지관절주위에 호발한다. 하지만 원위지골 원위부에 발생한 경우는 매우 드문 것으로 이에 대한 보고는 거의 없다. 저자들은 다발성 외골종의 가족력이 있는 10세 남아가 여러 관절 주위의 골성 종괴를 주소로 내원, 시행한 단순방사선 검사상 수부 원위지골의 원위부에 외골종이 관찰되어 이를 수술적 치료로 제거하고 문헌고찰과 함께 보고하고자 한다.

• 대한골관절종양학회지
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• 제1권1호
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• pp.60-67
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• 1995

It is difficult to manage the growing deformity of forearm bone caused by hereditary osteochondromatosis in children, because deformity and discrepancy of limb length is progressive. The are many treatment methods of these problems including excisio of osteochondroma, lengthening of ulna, shortening of radius, corrective osteotomy with or without lengthening apparatus. Among many treatment methods, we tried free vascularized epiphyseal transplantation with the proximal fibular epiphysis in 3 patients of hereditary osteochondromatosis for inducement of continuous bone growth and deformity correction. The average duration of follow up was 7 years and 1 month, the shortest duration being to 4 years and 5 months and the longest 10 years and 8 months. Serial radiologic and clinical evaluation were carried out during follow up and there were satisfactory length gain, deformity correction and improvement of adjacent joint motion in 2 cases. According to our follow up evaluation, free vascularized epiphyseal transplantation is valuable procedure in forearm deformity of hereditary osteochondromatosis although it needs skillful and experienced operative technique.

• 대한골관절종양학회지
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• 제20권2호
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• pp.99-103
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• 2014

Li-Fraumeni syndrome은 소아나 청장년층에서 다양한 형태의 종양을 유발할 수 있는 상염색체 우성 유전 질병이다. 이는 종양억제 유전자인 TP53 의 변형에 의해 발생하게 된다. 이 질환은 매우 드물며, 진단되지 못하고 간과되는 경향이 많다. 이에 저자들은 17세, 폐선암을 동반한 근위 경골 골육종 환자에서 가족력을 통해 이 질환을 의심하고, 유전자 검사를 통하여 확진한 증례를 보고하고자 한다.

• Journal of Yeungnam Medical Science
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• 제29권1호
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• pp.45-47
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• 2012

Osteochondroma is a common bone tumor but a rare tumor in the rib. It is often asymptomatic and observed incidentally. This is a case report of a 49-year-old woman with an osteochondroma mimicking a mediastinal mass in hereditary multiple exostoses. The chest X-ray and computed tomography (CT) scans revealed the bony density feature of the mass. Surgical excision confirmed that the lesion was an osteochondroma.

• Steel and Composite Structures
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• 제48권6호
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• pp.611-623
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• 2023

This work considered an optimal control formulation in the sense of Caputo derivatives. The optimality of the fractional optimal control problem. The tumor immune interaction in fractional form provides an excellent tool for the description of memory and hereditary properties of inter and intra cells. So the interaction between effector-cells, tumor cells and are modeled by using the definition of Caputo fractional order derivative that provides the system with long-time memory and gives extra degree of freedom. In addiltion, existence and local stability of fixed points are investigated for discrete model. Moreover, in order to achieve more efficient computational results of fractional-order system, a discretization process is performed to obtain its discrete counterpart. Our technique likewise allows the advancement of results, such as return time to baseline that are unrealistic with current model solvers.

• 한국생물물리학회:학술대회논문집
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• 한국생물물리학회 2001년도 학술 발표회 진행표 및 논문초록
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• pp.20-20
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• 2001

The PTEN tumor suppressor is mutated in diverse human cancers and in hereditary cancer predisposition syndromes. PTEN is a phosphatase that can act on both polypeptide and phosphoinositide substrates in vitro. The PTEN structure reveals a phosphatase domain similar to protein phosphatases but having an enlarged active site important for the accommodation of the phosphoinositide substrate.(omitted)

• Journal of Genetic Medicine
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• 제13권1호
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• pp.55-58
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• 2016

Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.

• Advances in nano research
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• 제10권4호
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• pp.359-371
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• 2021

A tumor immune interaction is a main topic of interest in the last couple of decades because majority of human population suffered by tumor, formed by the abnormal growth of cells and is continuously interacted with the immune system. Because of its wide range of applications, many researchers have modeled this tumor immune interaction in the form of ordinary, delay and fractional order differential equations as the majority of biological models have a long range temporal memory. So in the present work, tumor immune interaction in fractional form provides an excellent tool for the description of memory and hereditary properties of inter and intra cells. So the interaction between effector-cells, tumor cells and interleukin-2 (IL-2) are modeled by using the definition of Caputo fractional order derivative that provides the system with long-time memory and gives extra degree of freedom. Moreover, in order to achieve more efficient computational results of fractional-order system, a discretization process is performed to obtain its discrete counterpart. Furthermore, existence and local stability of fixed points are investigated for discrete model. Moreover, it is proved that two types of bifurcations such as Neimark-Sacker and flip bifurcations are studied. Finally, numerical examples are presented to support our analytical results.

• 대한골관절종양학회지
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• 제17권1호
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• pp.11-16
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• 2011

목적: 유전성 다발성 외골종 환자에서 상지에 발생한 외골종 병변의 분포와 이와 관련하여 상지의 축성 배열의 변화에 대해 조사하였다. 대상 및 방법: 2001년부터 2009년까지 유전성 다발성 외골종으로 진단받은 38명, 76예를 대상으로 하였다. 외골종 침범 수에 따라 Group A (2부위 이하), Group B (3부위 이상)로 분류하였으며, 각 그룹간 운반각 및 VAS (Visual Analogue Scale), 일상 활동의 제한 정도, 외관상 만족도를 비교 평가하였다. 결과: 외골종으로 진단받은 38명 환자 중 상지에 발생한 외골종은 23명, 43예에서 관찰되었다. 발생 부위로는 상완골 근위부 33예(30%), 척골 원위부 31예(28.2%), 요골 원위부 24예(21.8%) 이었다. Group A, B 각각 운반각은 $10.7^{\circ}$, $13.8^{\circ}$, VAS는 1.3점, 3.5점, 일상생활 능력의 제한은 8점 중 7.3점, 6.6점을 보였으며 외관상 만족한 경우는 13예, 10예였다. 결론: 유전성 다발성 외골종 환자 중 상지 변형은 65%에서 동반되었다. 침범 부위 수가 증가할 수록 운반각 및 VAS는 증가하였고, 일상생활 능력과 만족도는 감소하였다.