• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.15-21
• /
• 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.

• The Journal of the Korean bone and joint tumor society
• /
• v.10 no.2
• /
• pp.138-141
• /
• 2004

Osteochomdromas, which are uncommon in the hand, are encountered most frequently with hereditary multiple exostosis. They can occur away from the epiphyseal plate region at the distal end of the proximal and middle phalanges. But little has been written about exostosis that occur at the distal end of the distal phalnges. We report one case of hereditary multiple exostosis that arose at the distal end of the distal phalnges. Complete excision was done and the patient was disease-free of 4 years follow-up.

• The Journal of the Korean bone and joint tumor society
• /
• v.1 no.1
• /
• pp.60-67
• /
• 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.

• The Journal of the Korean bone and joint tumor society
• /
• v.20 no.2
• /
• pp.99-103
• /
• 2014

Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the tumor suppressor gene Tumor Protein p53 (TP53). That is extremely rare. Furthermore, this is sometimes overlooked. Here, we report a case of LFS which was confirmed by mutational analysis of the p53 gene. Also, literature review is intended to improve understanding of this disease entity.

• Journal of Yeungnam Medical Science
• /
• v.29 no.1
• /
• pp.45-47
• /
• 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
• /
• v.48 no.6
• /
• pp.611-623
• /
• 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.

• Proceedings of the Korean Biophysical Society Conference
• /
• 2001.06a
• /
• pp.20-20
• /
• 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
• /
• v.13 no.1
• /
• pp.55-58
• /
• 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
• /
• v.10 no.4
• /
• pp.359-371
• /
• 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.

• The Journal of the Korean bone and joint tumor society
• /
• v.17 no.1
• /
• pp.11-16
• /
• 2011

Purpose: This study was aimed to analyze the incidence and the anatomical distributions of HME (Hereditary Multiple Exostoses) on upper limbs and its related change in alignment of the upper limbs in HME patients. Materials and Methods: Thirty eight patients who had been diagnosed HME between 2001 and 2009, were categorized into two groups; (1) group A (1-2 involvements); (2) group B (${\geq}$3 involvements). We checked the carrying angle, VAS (Visual Analogue Scale), limitations in daily activities, cosmetic satisfaction according to the number of exostoses invasion. Results: Among the 38 patients, 23 patients (43 cases) had exostoses in the upper limbs. The locations of exostoses in the upper limbs were proximal humerus in 33 cases (30%), distal ulna in 31 cases (28.2%), and distal radius in 24 cases (21.8%). The carrying angle of group A and B was $10.7^{\circ}$, $13.8^{\circ}$, VAS was 1.3, 3.5, and the limitations in daily activities was 7.3, 6.6 of 8 points. The cosmetic satisfactory cases were 13 and 10 cases, respectively. Conclusion: The deformity in upper limbs was observed in 65% of the HME patients. As the number of invasion increases, carrying angle and VAS were increased but limitations in daily activities and cosmetic satisfaction were decreased.