Review
Advances in the diagnosis and treatment of Peutz-Jeghers syndrome and preventive treatment
WEI Xueming, GU Guoli, XU Limei, MAO Gaoping, WANG Shilin
Xue-Ming Wei, Guo-Li Gu, Shi-Lin Wang, Department of General Surgery, General Hospital of the Air Force, People’s Liberation Army, Beijing 100142, China
Xu Limei, Department of Rehabilitation, General Hospital of the Chinese People’s Liberation Army Air Force Beijing 100142, China.
Mao Gaoping, Department of Gastroenterology, General Hospital of the Chinese People’s Liberation Army Air Force, Beijing 100142, China.
Gu Guoli, Department of General Surgery, Air Force General Hospital
Author contributions: Xue-Ming Wei and Gu Guoli contributed equally to this article; Xue-Ming Wei, Gu Guoli and Gaoping Mao co-designed this article; Xue-Ming Wei and Gu Guoli were responsible for the surgical consultation and paper writing; Gaoping Mao was responsible for the small bowel microscopy; Li-Mei Xu was responsible for the traditional Chinese medicine treatment; Shi-Lin Wang reviewed the paper.
Correspondence should be addressed to Gu Guoli, Associate Chief Physician, Department of General Surgery, Air Force General Hospital, People’s Liberation Army, Beijing, 100142, China. [email protected]
Tel: 010-68410099-6302
Exploring of preventive treatments and advancement of diagnose and therapy on Peutz-Jeghers syndrome
Xue-Ming Wei, Guo-Li Gu, Li-Mei Xu, Gao-Ping Mao, Shi-Lin Wang
Xue-Ming Wei, Guo-Li Gu, Shi-Lin Wang, Department of General Surgery, the General Hospital of Chinese PLA Air Force, Beijing 100142, China
Li-Mei Xu, Department of Rehabilitation, the General Hospital of Chinese PLA Air Force, Beijing 100142, China
Gao-Ping Mao, Department of Digestion, the General Hospital of Chinese PLA Air Force, Beijing 100142, China
Correspondence to: Guo-Li Gu, Associate Professor, Department of General Surgery, General Hospital of Chinese PLA Air Force, Beijing 100142, China. [email protected]
Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is caused by inactivating germline mutations in LKB1/STK11 and Life-threatening complications Now operation and endoscope therapy are still the main way to develop gastrointestinal obstruction, an increasing risk for developing gastrointestinal malignancies and extraintestinal cancers. endoscope therapy still are main way to cure gastrointestinal polyposis of Peutz-Jeghers syndrome, and Double-balloon enteroscopy has important With the developing of translational medicine, molecular targeted therapy brings a new With the development of translational medicine, molecular targeted therapy brings a new paproach to preventive treatment of gastrointestinal polyposis of Peutz-Jeghers syndrome, and the selective COX-2 inhitibors are the most representative. Traditional Chinese medicine is an alternative choice. Based on summary of our clinical experience on diagnosis and treatment of gastrointestinal polyposis Based on summary of our clinical experience on diagnosis and treatment of gastrointestinal polyposis of Peutz-Jeghers syndrome, and combined with recently developing, we explored the diagnosis ideas and comprehensive Hope to improve clinician’s capabilities of diagnosis and treatment of it, and make patients with Peutz-Jeghers syndrome We hope to improve clinician’s capabilities of diagnosis and treatment of it, and make patients with Peutz-Jeghers syndrome get the most clinical profit.
Key Words: Peutz-Jeghers syndrome; Gastrointestinal polyposis; Therapy; Diagnosis; Translational Medicine
Wei XM, Gu GL, Xu LM, Mao GP, Wang SL. Exploring of preventive treatments and advancement of diagnose and therapy on Peutz-Jeghers syndrome. Shijie Huaren Xiaohua Zazhi 2011
Abstract
Peutz-Jeghers syndrome (PJS) is characterized by skin pigmentation, gastrointestinal malformation polyps, and heredity. PJS gastrointestinal polyps can produce serious complications such as obstruction, bleeding, overturning, and malignancy, and its clinical treatment is currently based on surgery and endoscopy, among which double-balloon electronic small bowel microscopy is clinically important for the diagnosis and treatment of PJS gastrointestinal polyps. With the advancement of translational medicine, molecularly targeted therapy has brought a new way of preventive treatment for PJS gastrointestinal polyps, which is represented by selective inhibitors of cyclooxygenase-2. In addition, traditional Chinese medicine, represented by “Jisheng Wu Mei Wan”, provides another option for the preventive treatment of PJS polyps. In this paper, we summarize the consensus and progress made by domestic and foreign scholars in the study of PJS in recent years, and propose the concept of integrated treatment of PJS gastrointestinal polyps with Chinese and Western medicine based on our own experience. The aim is to improve the ability of clinicians in the diagnosis and treatment of PJS gastrointestinal polyps, so that patients with PJS can receive the maximum clinical benefit.
Keywords: Peutz-Jeghers syndrome; gastrointestinal polyps; diagnosis; treatment; translational medicine
Wei X. M., Gu G. L., Xu L. M., Mao G. P., Wang S. L. Diagnostic advances and preventive treatment of Peutz-Jeghers syndrome. World Journal of Chinese Gastroenterology 2011; 19()
0Introduction
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by germline mutations in LKB1/STK11 and characterized by cutaneous mucosal melanosis and gastrointestinal dysplasia polyps [1-3]. In contrast, gastrointestinal polyps can cause serious complications such as bleeding, obstruction, intussusception, and malignancy, and are characterized by early onset, difficult diagnosis and treatment, and prolonged disease duration [4-6]. The risk to patients and their families is enormous. At present, there is no clinical standard for the management of PJS gastrointestinal polyps. In this paper, we summarize the progress made by domestic and foreign scholars in PJS research in recent years and propose a comprehensive treatment model for PJS gastrointestinal polyps and a preventive treatment concept combining Chinese and Western medicine based on our clinical experience. The aim is to improve the ability of clinicians to diagnose and treat PJS gastrointestinal polyps, so as to maximize the clinical benefit of PJS patients.
1 Diagnosis
The diagnostic criteria for PJS established by the National Collaborative Group on Hereditary Colorectal Cancer in 2003 [7] are: multiple malformed polyps of the gastrointestinal tract with skin mucosal pigmentation, with or without family history. Those diagnosed with PJS should be tested for LKB1/STK11 and/or FHIT genes. Therefore, the clinical diagnosis of a typical PJS case is not difficult; however, if one is not familiar with the clinicopathological features of PJS and does not pay attention to the investigation of family history, the diagnosis may still be missed.
1.1 Medical history
Approximately 60% of patients with PJS have a clear or suspected family history, but some cases of PJS may be inherited intergenerationally and true sporadic PJS is rare [8]. Therefore, when a case of PJS is suspected, it is important to investigate the presence of PJS in the grandparents in addition to the parents. At present, the family size in China tends to be smaller, and the reduction in the number of family members will make the genetic manifestation of PJS more insidious.
1.2 Symptoms and signs
1.2.1 PJS melanosis: PJS melanosis usually occurs in early childhood [9], but tends to disappear or fade with age, mostly after puberty. Therefore, in some adult PJS cases, the dark spots may not be found. The diagnosis of such cases should not be based on the presence or absence of dark spots, but rather on the type of mismatch pathology of the polyp and family history.
1.2.2 PJS gastrointestinal polyps: PJS gastrointestinal polyps are most commonly found in the upper jejunum and are characterized by a large number of polyps of different sizes distributed throughout the gastrointestinal tract [10], which can cause acute and chronic abdominal pain, intestinal entrapment, intestinal torsion, intestinal obstruction, gastrointestinal bleeding, and other complications; their clinical manifestations are complex and variable, with small bowel entrapment being the most common [11]. In addition, PJS can be associated with extraintestinal tumors such as breast cancer, pancreatic cancer, female reproductive system tumors, testicular support cell tumors, and neuroglioma. Moreover, these extraintestinal tumors can be the first manifestation of PJS [12]. Therefore, patients with these PJS-related tumors should be alerted to the possibility of PJS in clinical practice.
1.3 Adjuvant investigations
Gastrointestinal polyps in PJS are best found in the upper jejunum, which is a blind spot for conventional endoscopy. Therefore, conventional endoscopy and imaging have limited diagnostic significance for PJS, whereas capsule endoscopy and electronic small bowel microscopy have significant advantages.
1.3.1 Capsule endoscopy: Capsule endoscopy can examine the entire gastrointestinal tract and has the advantages of being easy to perform, noninvasive, easily tolerated, and does not require sedation. However, it has the disadvantages of high dependence on intestinal cleanliness, expensive equipment and examination, inability to take biopsies and microscopic treatment, lack of targeting and selectivity in photography, and short battery operating time [13-15]. In addition, it is not advisable to perform capsule endoscopy in cases with a tendency to obstruction because it may not be able to pass through the incomplete obstruction, which may aggravate the obstruction and eventually require surgery or electronic small bowel microscopy to remove the capsule endoscope. In our hospital, we have treated a case in which a capsule endoscopy was performed outside the hospital and blocked at the small bowel obstruction, which was eventually removed under electronic small bowel microscopy, thus avoiding open surgery.
1.3.2 Double-balloon electronic small bowel microscopy: Double-balloon electronic small bowel microscopy (DBE) has the advantages of minimal trauma, high safety, repeatable examination and treatment, and precise results [16-18]. Transoral and transanal DBE examinations can examine the entire gastrointestinal tract, and biopsies can be obtained and treatment such as microscopic polyp coiling and cauterization can be performed. However, there are disadvantages such as complicated and time-consuming operation, the need for intravenous anesthesia, and expensive equipment and examination costs.
1.4 Differential diagnosis
Clinically, PJS needs to be differentiated from Cronkhite-Canada syndrome (CCS). CCS has a late onset and is an acquired, non-genetic disease that may be associated with infection, lack of growth factors, arsenic toxicity, and stress and overexertion are also risk factors [19,20]. In addition to gastrointestinal polyps and mucosal pigmentation, CCS is characterized by hair loss and atrophy and loss of finger (toe) nails.
2 Treatment
At present, the clinical treatment of PJS gastrointestinal polyps is still mainly surgical, supplemented by endoscopic treatment. However, the cause of PJS is the LKB1/STK11 germline mutation, and surgery and endoscopic treatment can only destroy the target organ of the causative gene, which is only a passive and local treatment [21]; it cannot achieve the etiological treatment. How to prevent, delay the growth and malignancy of polyps, and even eliminate them is the scientific and clinical goal of PJS gastrointestinal polyps. At present, gene therapy is not available, but the biological process of PJS gastrointestinal polyp development → progression → malignancy → metastasis takes a long time, in which various cytokines and enzymes are involved [22]. If the process of polyp development can be blocked or inhibited, the polyp formation can be inhibited and its development slowed down; molecularly targeted drugs are the main representatives [23-25]. Molecularly targeted drugs are the main representatives [23-25]. Traditional Chinese medicine is also favored by patients with PJS because of its low adverse effects and low cost. Therefore, the combination of Chinese and Western medicine (molecular targeted drugs + Chinese herbal medicine) has the potential to open a preventive pathway for the treatment of PJS gastrointestinal polyps.
2.1 Local treatment
2.1.1 Endoscopic treatment: Although endoscopic treatment is a local treatment, it can prolong the interval of surgery and even avoid open surgery in some patients. Therefore, it is also of clinical importance. DBE is very advantageous in the management of PJS gastrointestinal polyps [16]. Preoperative endoscopy can help to understand the extent and size of the polyp and to make a preliminary assessment of the need for surgical management, and endoscopic electrocautery or trap removal can be used for small polyps and thin-tipped polyps. Intraoperative endoscopy can help to understand the presence of polyps, obstruction, and cancer (by visual observation and biopsy) in the “blind” areas of surgical exploration (e.g., at the level of the duodenum); it can also provide guidance in determining the site of bowel incision; and for small polyps, microscopic management can be performed (but may prolong the operative time). Postoperative endoscopy is usually performed within 3-6 mo after surgery for further management of small polyps and for timely management of any new lesions.
2.1.2 Surgical treatment: Currently, open and laparoscopic surgery is mainly performed to address the complications caused by polyps, such as intestinal obstruction, overturning, bleeding, and malignancy. Based on the principle of minimally invasive treatment and maximum preservation of the intestinal canal, the following issues should be noted during surgery [5]: (1) the intestinal canal should not be pulled and pulled to avoid breakage of the intestinal canal, but should be gradually extruded from the sheath of the intestinal canal, which can reduce the resection of the intestinal canal; (2) most of the PJS polyps have long and thin tips, and all polyps within 10-15 cm from the incision can be pulled or extruded from one incision. (3) Larger polyps have their own trophoblastic vessels and should be removed with thorough suturing at the base to stop bleeding to avoid secondary bleeding after surgery; (4) Intestinal segments with dense lesions can be selected for partial resection without polyps at the cut edge, It is not necessary to remove too many intestinal tubes. For polyps with malignant changes, they should be treated according to the principles of intestinal cancer.
2.2 Prophylactic treatment
The advancement of basic research and pharmaceutical technology has made it possible to treat PJS gastrointestinal polyps prophylactically, which is also a reflection of the application of translational medicine to the treatment of PJS gastrointestinal polyps. Although it is still in its infancy, the application of preventive drugs for the treatment of PJS gastrointestinal polyps is promising and promising. This has the potential to open up new avenues of prophylactic treatment for PJS gastrointestinal polyps.
2.2.1 Molecularly targeted therapy: Molecularly targeted therapy has the advantages of high specificity, significant effect, and basically no damage to normal tissues. Currently, molecularly targeted drugs for PJS have been used in clinical practice. (1) Selective cyclooxygenase-2 inhibitors: Cyclooxygenase (COX) is the rate-limiting enzyme in the synthesis of prostaglandins. In humans, COX-2 is expressed in response to inflammatory cytokines, tumor-promoting factors, growth factors and oncogenes, and is involved in a variety of pathophysiological processes. COX-2 inhibitors have been used for the prevention and treatment of colorectal polyps and colorectal cancer. Studies have shown [26-28] that COX-2 shows high expression in PJS gastrointestinal polyps. Therefore, COX-2 inhibitors would inhibit the development of PJS gastrointestinal polyps. Selective COX-2 inhibitors became available in the 1990s, with the first generation including nimesulide, meloxicam, celecoxib, and rofecoxib, and the second generation including vadecoxib (Valdecoxib), parecoxib (Parecoxib), and etoricoxib (Etoricoxib). The use of COX-2 as a therapeutic target for PJS gastrointestinal polyps has a promising application. Reasons: (1) COX-2 is highly expressed in tumor cells but not in normal cells; it is a good target for tumor therapy. ②Screening COX-2 inhibitors is relatively easy. Because a large number of COX-2 inhibitors have been used as first-line anti-inflammatory and analgesic drugs for many years, the screened drugs do not need to be tested in clinical trials. (iii) New therapeutic targets related to prostaglandin synthesis can be identified based on COX-2 extension. Therefore, as research progresses, selective COX-2 inhibitors will play an increasingly important role in the treatment of PJS. (2) mTOR signaling pathway inhibitors: mammalian target of rapamycin (mTOR) is a downstream molecule of PI3K/Akt pathway, which can receive various signals such as growth factors, nutrients and energy, and is a key molecule in regulating cell growth and proliferation. Studies have confirmed [29-31] that the mTOR signaling pathway is involved in the onset and development of PJS. Therefore, inhibition of the mTOR signaling pathway would inhibit the development of PJS. Rapamycin, a first-generation mTOR pathway inhibitor, has anti-lymphocyte proliferation, anti-tumor and antifungal effects. The new generation of mTOR pathway inhibitors, Temsirolimus and Everolimus, are already in clinical use, and their use in the treatment of PJS gastrointestinal polyps is still under investigation. This may limit their use in the treatment of PJS gastrointestinal polyps due to higher adverse effects than selective COX-2 inhibitors. (3) Inhibitors of EGFR, VEGF and their receptors: Targeted inhibitors of EGFR, VEGF and their receptors have been used in the clinical treatment of colorectal cancer. However, there are few reports on their role in PJS gastrointestinal polyps [32,33]. Further studies are needed for the application of their related targeting drugs in the treatment of PJS gastrointestinal polyps. (4) Practice and consideration of molecular targeted therapy for PJS: In the past 3 years, we conducted a clinical trial of celecoxib for the prophylactic treatment of PJS gastrointestinal polyps with the approval of the hospital ethics committee and signed informed consent, and a total of 8 cases were enrolled, of which 3 cases were discontinued after 1 mo due to allergic rash. Two cases were discontinued after 2 mo due to the appearance of gastrointestinal bleeding. Two cases completed the 6 mo course of treatment and one case completed the 9 mo course of treatment. The DBE of these 3 patients showed that the distribution and size of polyps tended to decrease after completing the treatment course, but the sample size was too small to be statistically significant.
For the molecular targeting therapy of PJS, we believe that the following problems need to be solved: (1) the problem of target screening methods. At present, most of the relevant targets are detected by immunohistochemistry, which is simple and easy to use, but the results are easily affected by the quality of reagents and operation level, and cannot be quantified; the expression rate varies greatly. It is worth exploring whether more stable screening methods (e.g., fluorescence in situ hybridization, quantitative PCR, etc.) or uniform reagent standards (e.g., fixed manufacturers, fixed clone lines) can be used to prevent these problems. (2) How to develop unified criteria based on the expression of COX-2, mTOR, EGFR and VEGF as indications for PJS-targeted therapy? This requires further clarification of the relationship between PJS-targeted drug therapy and the expression of COX-2, mTOR, EGFR, and VEGF. (3) To determine the optimal timing, regimen and dose of targeted therapy and how to combine it with surgery and radiotherapy? Can multiple targeted drugs be used in combination?
2.2.2 Chinese medicine treatment: Although various molecular targeting drugs have the advantages of being highly targeted and effective, they also have the disadvantages of being expensive and having large side effects, which are not yet popular in clinical practice. Chinese herbal medicine is unique in the recognition and treatment of PJS gastrointestinal polyps, with the advantages of easy administration, low cost, and low side effects; therefore, Chinese herbal treatment also provides a good choice for the preventive treatment of PJS. (1) Chinese medicine evidence of PJS gastrointestinal polyps: Chinese medicine regards polyps as superfluous organisms with phlegm coagulation and stagnation [34], and considers congenital endowment and dietary factors as the main causes of PJS gastrointestinal polyps [35]. Insufficient innate endowment and damage to the internal organs due to prolonged disease lead to deficiency of spleen and yang and malfunction of water and dampness transport, resulting in internal accumulation of phlegm and dampness, which leads to poor qi flow, stagnation of qi and blood, and congestion of veins and channels, resulting in the accumulation of qi, dampness, phlegm and stasis, and eventually polyps over time. (2) Chinese herbal treatment for gastrointestinal polyps in PJS: The ancient formula “Ji Sheng Wu Mei Wan” has been used most frequently in the treatment of gastrointestinal polyps. This formula was developed by Yan Youhe in the Song Dynasty for the treatment of “bleeding from intestinal wind”. It was written in the book of “The Book of the Times” by Chen Xiuyuan of the Qing Dynasty: “It is very difficult to treat dripping blood, so Jisheng left behind Wu Mei Wan, stir-fried and pounded with Wu Mei, and the disease will be relieved after a few times of vinegar. Gong Zhixian of Chongqing Institute of Traditional Chinese Medicine added wine vinegar, human nails and ivory shavings to the original medicine to make “JiSheng WuMei Wan” [36]; it has been used to treat various polyps with reliable efficacy. Since human nails and ivory shavings are not easy to obtain, and therefore, the effect is not reduced by replacing them with Andrographis paniculata. Some TCM experts have also used Panax ginseng, Wei Ling Xian, and Di Long to promote their efficacy in resolving blood stasis and clearing the ligaments, and in grinding and dispersing hard knots [37]. The efficacy of wu mei is well documented in ancient texts [38]. In the Compendium of Materia Medica, it is said that “it has a physical effect on the erosion of malignant sores and pterygium, although it is acidic”. In Liu Juanzi’s “Ghost Legacy”, it is said: “Use the flesh of the plum to burn and keep the sex, grind it and put it on the bad flesh, and it will disappear overnight”. The “Explanation of the Materia Medica” says: “Removing green and black moles, as well as eroding bad flesh, the sour taste of the external treatment, can eliminate moles and flesh. The Ben Jing says that wu mei can “…… erode bad flesh”. In the book of Surgery, “Ping Pterygium Dan”, the plum is also used as the main medicine to eliminate rotten flesh. Modern medical research has found that ursolic acid, the active component of Ume plum, has antitumor effects, and experiments have shown [39] that the inhibition rate of Ume plum decoction against human uterine leiomyoma strain JTC-26 was over 90% in in vitro tests. The results of in vitro antitumor and in vitro immunomodulation tests showed that the aqueous and alcoholic extracts of Ume plum had inhibited the growth of human primitive megakaryocytic leukemia cells and human promyelocytic leukemia cells. One of the mechanisms of action of Umei on HL-40 cells is the inhibition of cellular DNA synthesis and the arrest of the cells in the G/M phase, thus inhibiting the formation of nodal tumors [40]. It has the function of quenching the wind and relieving spasm, dispelling wind and pain, and detoxifying and dispersing nodules [41]. According to the Compendium of Materia Medica: “Dispersing wind and phlegm, nodules, scrofula, head wind, wind and insect tooth pain, skin rash, itching from dermatitis, all gold sores, and treating swelling and wind hemorrhoids”. (3) The preparation and precautions of JiSheng WuMei pill: 1500 g of WuMei (choose fat and fleshy WuMei, soak in wine and vinegar for one night, remove the core and roast to keep the sex), 500 g of silkworm (fried with rice and slightly yellow), 50 g of Andrographis paniculata (washed with alkaline water or soap water, dried in the sun, then fried with talcum powder in a pot until the nail pieces are yellow and bulging, take out and sieve the talcum powder, let cool, and grind the powder). The above drugs are finely powdered and made into pills with refined honey, each pill weighing 9 g, to be taken orally three times a day. After the pills are made, put them into glass bottles and put them in a dry and ventilated place to prevent moisture and mold from deteriorating. Since PJS gastrointestinal polyps occur in children and it is difficult to take the pills, we can use a decoction of 15 g each of Ume plum and Stachybotrys, and take it orally twice a day. During the period of taking the medicine, it is advisable to eat a light diet with plenty of fruits and vegetables, keep the bowels open, avoid frying, stir-frying, spicy, smoking and alcohol. Under the premise of signed informed consent and hospital ethics committee approval, we selected 11 patients with PJS to be treated with “Jisheng Wu Mei Wan” orally. The DBE review showed that the treatment was effective in 6 cases and ineffective in 2 cases. The specific efficacy has yet to be determined by increasing the sample size and longer-term follow-up. (4) Chinese herbal enemas: It was reported in the literature [42] that the enema of Wu Bei Zi Wu Mei Tang has the effect of clearing dampness and heat, removing decay and stasis, and broad-spectrum anti-inflammatory. It can retard the development of gastrointestinal polyps. The decoction was concentrated to 100-150 mL by adding 500 mL of water, filtering out impurities and bottling. The enema was administered once every night at 1h before bedtime by drip method, 12 d for a course of treatment. After a course of treatment, rest for 7 d, a total of two courses of treatment, repeat the second course after 6 mo. In the formula, Wu Bei Zi and Wu Mei can astringently stop bleeding, pacify and remove decay; Huang Lian, Jin Yin Hua, Zi Cao and Dan Shen can clear heat, remove dampness and detoxify, activate blood circulation and remove blood stasis; Bletilla can astringently stop bleeding, subdue swelling and promote healing; Peppermint has a clearing effect on heat; and Pterygium has the function of pacifying and removing decay. (5) For the treatment of PJS, we believe that the following issues need to be addressed: ① Clarify the TCM physical characteristics and typology of PJS patients. As TCM emphasizes individualized treatment, the different TCM constitutions of PJS patients determine the differences in their herbal treatment. ②The standardization of TCM treatment for PJS. Otherwise, it is difficult to evaluate the exact efficacy of TCM in treating PJS. (③) To clarify the active ingredients of relevant TCM and their mechanisms in the treatment of PJS.
3 Conclusion
In the context of the lack of clinical application of gene therapy, it is important to explore the clinical model for effective treatment of PJS. We believe that the clinical integrated treatment model of local treatment (endoscopy) + rescue treatment (surgery) + preventive treatment (pharmacological intervention) has certain advantages. Although small bowel microscopy is a local treatment, it can prolong the interval between procedures and even save some patients from open surgery. Although the combination of Chinese and Western medicine in the prophylactic treatment of PJS GI polyps faces difficulties and uncertainties, its clinical application is promising; it has the potential to open up new treatment methods for patients with PJS and deserves further study.
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Background information
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by mutations in LKB1/STK11, which is characterized by gastrointestinal malformation polyps, skin pigmentation and familial inheritance. Gastrointestinal polyps may lead to intestinal obstruction, intussusception, bleeding, malignant transformation and other serious complications, resulting in repeated hospitalization, multiple surgeries and eventual malignant transformation, causing great harm to patients, their families and society.
Research and development frontier
In this paper, we summarize the research progress at home and abroad and combine our own research results. It focuses on some practical issues in the clinical diagnosis and treatment of PJS gastrointestinal polyps, such as: The clinical application of DBE, the experience of endoscopic and surgical treatment, surgical techniques, molecular targeting therapy and new trends of Chinese medicine treatment. The content is informative, practical and of great clinical guidance.
Innovation Inventory
This article summarizes the basic research progress at home and abroad, and combines our own experience in the treatment of PJS gastrointestinal polyps. The concept of translational medicine is applied to the clinical management of PJS gastrointestinal polyps. A comprehensive clinical treatment system for PJS gastrointestinal polyps is outlined. The logic is clear and points out the direction and goal of the treatment of PJS gastrointestinal polyps.
Application points
This article highlights the new trends in the clinical management of PJS gastrointestinal polyps from a practical clinical perspective, which helps to deepen the understanding of PJS and improve the clinical management ability, and also provides a theoretical basis and practical experience for the preventive treatment of PJS gastrointestinal polyps.
Peer Review
The paper is closely related to clinical practice, with clear logical lines, and comprehensively discusses the clinical diagnosis and treatment of PJS gastrointestinal polyps; it proposes the concept of preventive treatment and conducts relevant clinical trials, which is a good guidance for the clinical diagnosis and treatment of PJS gastrointestinal polyps.