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Hu XC, Gan CX, Zheng HM, Wu XP, Pan WS. Immunotherapy in combination with chemotherapy for Peutz-Jeghers syndrome with advanced cervical cancer: A case report. World J Gastrointest Surg 2023; 15:480-487. [PMID: 37032790 PMCID: PMC10080604 DOI: 10.4240/wjgs.v15.i3.480] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/22/2022] [Revised: 01/31/2023] [Accepted: 03/04/2023] [Indexed: 03/27/2023] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and female patients may develop gynecologic tumours. The prognosis for such patients is poor and the specific pathogenesis remains uncertain. Therefore, there are currently no uniform treatment options.
CASE SUMMARY Herein, we introduce the case of a 45-year-old female who was diagnosed with PJS for 45 years and cervical cancer for 3 years. Postoperative pathological examination showed metastases in the right external iliac lymph nodes. The patient was initially treated with a combination of doxorubicin and carboplatin chemotherapy and pelvic magnetic resonance showed that the metastases had grown. Subsequently, we performed whole exome sequencing in this patient and identified the relevant causative gene. In addition to the chemotherapy regimen, sindilizumab was administered and the patient was followed up. After 4 cycles of treatment, the metastases were substantially reduced and were not enlarged after six months of follow-up. This case report suggests that patients with PJS combined with cervical cancer may have a sustained response to immune-combination chemotherapy regimens.
CONCLUSION Clinicians should be aware of the importance of immunotherapy in patients with PJS combined with advanced cervical cancer.
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Affiliation(s)
- Xiang-Cheng Hu
- Department of Gastroenterology, Bengbu Medical College, Bengbu 233000, Anhui Province, China
| | - Chen-Xiao Gan
- Department of Gastroenterology, Zhejiang Provincial People’s hospital, Hangzhou 310014, Zhejiang Province, China
| | - Hui-Min Zheng
- Department of Gastroenterology, Bengbu Medical College, Bengbu 233000, Anhui Province, China
| | - Xue-Ping Wu
- Department of Gastroenterology, Zhejiang Provincial People’s hospital, Hangzhou 310014, Zhejiang Province, China
| | - Wen-Sheng Pan
- Department of Gastroenterology, Zhejiang Provincial People’s hospital, Hangzhou 310014, Zhejiang Province, China
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Gordhandas SB, Kahn R, Sassine D, Aviki EM, Baltich Nelson B, Catchings A, Liu YL, Lakhman Y, Abu-Rustum NR, Park KJ, Mueller JJ. Gastric-type adenocarcinoma of the cervix in patients with Peutz-Jeghers syndrome: a systematic review of the literature with proposed screening guidelines. Int J Gynecol Cancer 2022; 32:79-88. [PMID: 34903560 DOI: 10.1136/ijgc-2021-002997] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2021] [Accepted: 11/02/2021] [Indexed: 11/04/2022] Open
Abstract
OBJECTIVES To perform a systematic review of gastric-type adenocarcinoma of the cervix and lobular endocervical glandular hyperplasia (a possible precursor lesion) in Peutz-Jeghers syndrome, and to analyze data from the literature, along with our institutional experience, to determine recommendations for screening and detection. METHODS A comprehensive literature searc and retrospective search of pathology records at our institutio were conducted. Articles were screened by two independent reviewers. Case reports/series on lobular endocervical glandular hyperplasia/gastric-type adenocarcinoma of the cervix in Peutz-Jeghers syndrome were included. Demographic, clinical, and radiologic information was collected. RESULTS A total of 1564 publications were reviewed; 38 met the inclusion criteria. Forty-nine were included in the analysis (43 from the literature, 6 from our institution). Forty-three reported on gastric-type adenocarcinoma alone, 4 on lobular endocervical glandular hyperplasia alone, and 2 on concurrent lobular endocervical glandular hyperplasia/gastric-type adenocarcinoma. Median age at diagnosis was 17 (range, 4-52) for patients with lobular endocervical glandular hyperplasia alone and 35 (range, 15-72) for those with gastric-type adenocarcinoma. The most common presenting symptoms were abdominal/pelvic pain and vaginal bleeding/discharge. Imaging was reported for 27 patients; 24 (89%) had abnormal cervical features. Papanicolaou (Pap) smear prior to diagnosis was reported for 12 patients; 6 (50%) had normal cytology, 4 (33%) atypical glandular cells, and 2 (17%) atypical cells not otherwise specified. Patients with gastric-type adenocarcinoma (n=45) were treated with surgery alone (n=16), surgery/chemotherapy/radiation (n=11), surgery/chemotherapy (n=9), surgery/radiation (n=5), or radiation/chemotherapy (n=4). Twelve (27%) of 45 patients recurred; median progression-free survival was 10 months (range, 1-148). Twenty patients (44%) died; median overall survival was 26 months (range, 2-156). Thirteen patients (27%) were alive with no evidence of disease. CONCLUSIONS Gastric-type adenocarcinoma in Peutz-Jeghers syndrome is associated with poor outcomes and short progression-free and overall survival. Screening recommendations, including pathognomonic symptom review and physical examination, with a low threshold for imaging and biopsy, may detect precursor lesions and early-stage gastric-type adenocarcinoma, leading to better outcomes in this high-risk population. PROSPERO REGISTRATION NUMBER CRD42019118151.
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Affiliation(s)
- Sushmita B Gordhandas
- Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Ryan Kahn
- Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Dib Sassine
- Department of Obstetrics and Gynecology, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA
| | - Emeline M Aviki
- Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
- Joan & Sanford I. Weill Medical College of Cornell University, New York, New York, USA
| | - Becky Baltich Nelson
- Joan & Sanford I. Weill Medical College of Cornell University, New York, New York, USA
| | - Amanda Catchings
- Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Ying L Liu
- Joan & Sanford I. Weill Medical College of Cornell University, New York, New York, USA
- Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
- Gynecologic Medical Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Yuliya Lakhman
- Body Imaging Service, Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Nadeem R Abu-Rustum
- Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
- Joan & Sanford I. Weill Medical College of Cornell University, New York, New York, USA
| | - Kay J Park
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
| | - Jennifer J Mueller
- Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA
- Joan & Sanford I. Weill Medical College of Cornell University, New York, New York, USA
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Yoshikawa T, Abe T, Amano H, Hanada K, Minami T, Kobayashi T, Yonehara S, Nakahara M, Ohdan H, Noriyuki T. Metachronous triple cancer associated with Peutz-Jeghers syndrome treated with curative surgery: a case report. Surg Case Rep 2018; 4:84. [PMID: 30069736 PMCID: PMC6070452 DOI: 10.1186/s40792-018-0492-6] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2018] [Accepted: 07/23/2018] [Indexed: 12/17/2022] Open
Abstract
Background Peutz–Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. It is well known that individuals with PJS are at an increased risk of cancer in a variety of organs. Case presentation Here, we present a patient with PJS who achieved long-term survival by undergoing repeat curative surgery for metachronous triple cancer. Her medical history included hilar cholangiocarcinoma and cervical carcinoma; curative surgery was performed for both conditions. On annual follow-up, the level of carcinoembryonic antigen was elevated at 6.9 ng/ml. Enhanced computed tomography revealed a cystic tumor consisting of mural nodules at the pancreatic head; the maximal diameter was 15 mm. Magnetic resonance imaging clearly demonstrated the tumor with low intensity on T1-weighted images and high intensity on T2-weighted images. Endoscopic ultrasound sonography showed a high echoic tumor at the pancreatic head, which was confirmed as adenocarcinoma by fine-needle aspiration biopsy. The preoperative diagnosis was intraductal papillary mucinous carcinoma (IPMC; T1N0M0, stage IA). Subtotal stomach-preserving pancreaticoduodenectomy was performed and the final diagnosis was IPMC, stage 0 (TisN0M0). Conclusions Aggressive surgery for metachronous triple cancer resulted in good long-term prognosis. Continuous and systematic follow-up would allow the detection of malignancy at an early stage and make treatment with curative surgery possible.
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Affiliation(s)
- Toru Yoshikawa
- Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan
| | - Tomoyuki Abe
- Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan.
| | - Hironobu Amano
- Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan.,Department of Gastroenterological and Transplant Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Keiji Hanada
- Department of Gastroenterology, Onomichi General Hospital, Onomichi, Hiroshima, Japan
| | - Tomoyuki Minami
- Department of Gastroenterology, Onomichi General Hospital, Onomichi, Hiroshima, Japan
| | - Tsuyoshi Kobayashi
- Department of Gastroenterological and Transplant Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Shuji Yonehara
- Department of Pathology, Onomichi General Hospital, Onomichi, Hiroshima, Japan
| | - Masahiro Nakahara
- Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan
| | - Hideki Ohdan
- Department of Gastroenterological and Transplant Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Toshio Noriyuki
- Department of Surgery, Onomichi General Hospital, 1-10-23, Onomichi, Hiroshima, 722-8508, Japan.,Department of Gastroenterological and Transplant Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
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Li CG, Yang L, Sheng JQ. Hereditary Colorectal Cancer in China: Current Status and Progress. Gastrointest Tumors 2015. [DOI: 10.1159/000434650] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/30/2023] Open
Abstract
<b><i>Background:</i></b> Hereditary colorectal cancer (CRC) accounts for about 5% of the total incidence of CRC. During the last decades, there have been great advances in the research of hereditary CRC in China. <b><i>Summary:</i></b> This review mainly focuses on advances of the genetic basis, clinicopathological features, diagnosis, chemoprevention and treatment of hereditary CRC in China. <b><i>Key Message:</i></b> Hereditary CRC has a higher risk to initiate the progression towards neoplasia than sporadic CRC. It can be diagnosed by clinical manifestation or the relevant genetic testing so as to guide the clinical treatment to improve the survival rate and survival quality of patients. <b><i>Practical Implications:</i></b> Hereditary CRC includes hereditary nonpolyposis CRC (Lynch syndrome), familial adenomatous polyposis and other rare types such as Peutz-Jeghers syndrome and familial juvenile polyposis. Based on the clinical manifestations and family history, highly suspected cases can be screened for in the general population and the diagnosis ruled out by genetic analysis. Then, chemoprevention, endoscopic intervention or surgery can be selected properly to improve patients' survival and quality of life.
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Abstract
The mammalian target of rapamycin (mTOR) signaling pathway is one of the most important intracellular signal transduction pathways and is involved in a series of biological activities, such as gene transcription, protein translation, ribosome synthesis, and cell apoptosis. The abnormal activation of the mTOR signaling pathway has a close relationship with the development of some hereditary diseases, tumors and diabetes. Intervention with biological processes of these diseases by influencing the mTOR signalling pathway with all kinds of biological means has become a hot area of research for several years. This article reviews the recent advances in understanding the composition and function of the mTOR signaling pathway and its role in the pathogenesis of Peutz-Jeghers syndrome. It is expected that molecular therapy targeting the mTOR signalling pathway can be used for preventive therapy of Peutz-Jeghers syndrome.
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Abstract
Colorectal cancer is one of the most common digestive malignant tumors in China. Its incidence and mortality rates rank top among all malignant tumors. Previous studies show that nearly one-third of colorectal cancers are associated with hereditary colorectal tumors. Hereditary colorectal tumors are mainly divided into two categories: hereditary nonpolyposis colorectal cancer and hereditary colorectal polyposis. In this article, we will review the recent advances in research on hereditary colorectal neoplasms.
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