The current report of the patient with PFTC deserves well sharing. Our aim was to execute personalized dignosis and treatment to reduce the incidence rate and prolong life cycle. PFTC was first reported by Rokitansky in 18475. The incidence rate of primary fallopian tube carcinoma accounts for 0. 14%-1. 8% of all gynecological malignancies6 However, recent data suggest that the true incidence of PFTC has been substantially underestimated. A large number of evidence has confirmed that most epithelial ovarian cancers(EOC)are of fallopian origin. And it originates from the epithelium of the fallopian tube. The most common histological type of it is serous adenocarcinoma7. Postmenopausal women are susceptible. Although nosogenesisis unclear, a lot of datas suggest genetic factor as unanimous principal factor.
The routes of metastasis of fallopian tube carcinoma are similar to those of ovrican cancer. PFTC mainly spreads to adjacent tissue or organ, and also can disseminate to other sites by lymphatic or hematogenous routes. Lymphatic metastasis of fallopian tube carcinoma has three main pathways8. PFTC spreads mainly through the infundibulopelvic ligament to the paraaortic lymph nodes, and also through broad ligament to the pelvic lymph nodes and through round ligament to the inguinal lymph nodes4. Umbilical metastasis from intraabdominal cancer mainly through the lymphatic channels draining the paraaortic lymph nodes, but may also spread through direct extension, venous routes, and embry-onic remnants9. Sister Mary Joseph (1856 − 1939) was the first to notice that an umbilical nodule may be a specific sign of intraabdominal cancer. It has consequently been suggested that the name “Sister Mary Joseph’s nodule” should be given to metastatic tumors of the umbilicus4 Because of the fist sign in umbilical region, as well as its clinical feature same with omphalitis, logically, she was dignosed as omphalitis at first. From her postoperative pathology result, we overturned the conclusion.
Hereditary tumor syndrome is a disease-causing mutation of one or more genes that causes tumors in one or more organs of an individual, and the mutated genes can be inherited from generation to generation in the family line, most of which are autosomal dominant, accounting for about 5%~ 10% of all tumors10. Hereditary tumors are associated with germline mutations in oncogenes or tumor suppressor genes in the carcinogenesis pathway. Hereditary breast and ovarian cancer(HBOC) as one of the most genetically related syndromes in ovarian cancer is related to the pathogenic mutation of tumor suppressor genes. The majority HBOC are mutation of BRCA 1 and BRCA2. The NCCN Guidelines recommended, all women diagnosed with ovarian, fallopian tube, or abdominal cancer, regardless of age or family history, should receive inheritance counseling and undergo BRCA genetic testing11. BRCA (Breast Cancer Susceptibility Genes) includes BRCA1 and BRCA2. There are hundreds of BRCA1/2 mutations. These two genes are responsible for encoding and synthesizing a tumor suppressor protein, which participates in the repair of DNA homologous damage and prevents excessive cell proliferation. This protein and Poly ADP -ribose polymerase(PARP )serve as two ways to repair DNA damage ,When one of the repair pathways fails, the damaged part of the DNA can be repaired through another pathway to stabilize the genetic information in the cell. When a cell has a BRCA1/2 mutation, although it loses the BRCA repair pathway, it can also repair DNA damage through the PARP pathway, so the mutated tumor cells can still survive. At present, the targeted drugs for BRCA are mainly PARP inhibitors, which block the survival of BRCA-mutated tumor cells by inhibiting the PARP pathway, resulting in the death of tumor cells. The mutation has also been linked to a higher risk of pancreatic and prostate cancers.
Through genetic testing, Carriers of tumor-causing genes should be timely screened for cancer. Screening methods are commonly used in clinical practice, such as gynecological ultrasound, CA125 detection. Iatrogenic intervention can effectively reduce the risk of hereditary gynecological tumors, including drug prophylaxis and risk reduction surgery. Preventive drugs are mostly sex hormone drugs, mainly oral contraceptives. Preventive bilateral salpingo-oophorectomy, bilateral salpingectomy, and hysterectomy can reduce the risk of cancer in carriers of hereditary gynecological tumor mutation genes, so it is called risk reduction surgery. Patients with hereditary tumors are relatively young at the time of onset, and it is recommended that high-risk patients undergo risk-reduction surgery at the age of 35 to 45 or after the completion of childbirth. Iatrogenic menopause, infertility, and hypoestrogen syndrome caused by risk-reducing surgery can be intervened. In combination with the patient, the mother, sister, brother and son of the first-degree relatives should be genetically tested. Prophylactic removal of the ovaries can reduce the incidence of breast cancer. The cost of genetic testing is not high, all should be implemente. Prevention is based on the results of the examination. Preventive resection of the prostate is not recommended. Regular PSA,digital rectal examination, and transrectal ultrasound examination, should be routine screening once a year from 40–45 years old.
The ideal balance between tumor prevention and fertility preservation in genetic gynecological tumor population is risk-reducing surgery after fertility completion. The optimal age for RRSO implementation is 35 to 45 years old. The "childbearing period" time window is relatively shorter for women at high risk of gynecological tumors. If they have not completed their childbearing and have to consider receiving RRSO risk reduction surgery, it is recommended to use frozen egg or frozen embryo assisted reproductive techniques (ART) to complete the childbearing. Carriers of B R C A 1 and B R C A 2 mutations are diagnosed as gynecological tumors. Fertility preservation (FP) also needs to take into account chemotherapy-related infertility, premature ovarian insufficiency (POI), or iatrogenic menopause, etc. Gynecological oncologists must have the awareness and concept of oncofertility, and guide B R C A 1 and B R C A 2 mutation carriers to go to the department of reproductive endocrinology, so as to have relatively ample time to assess basic ovarian reserve, guide and implement fertility preservation plans. Patients can also fully understand the timing of reproductive function preservation and the pros and cons of pre-implantation genetic testing. RRSO recipients who have preserved frozen eggs or embryos can achieve fertility by in vitro fertilization and embryo transfer(IVF-ET). Otherwise, donating eggs can be considered. Adoption is also an option. Uterine transplantation is a new technique to realize family planning. Recently, a case of live birth was reported. However, for women with high risk of hereditary gynecological tumors, the role and risk of uterine transplantation in preserving fertility have not been determined. Hereditary gynecological tumors are inherited in an autosomal dominant manner, and carriers of the mutant gene have a 50% probability of passing the pathogenic mutation to their offspring12. PGD/PGS and prenatal diagnosis techniques can minimize the risk of the transmission of pathogenic mutations to offspring. Women with pathogenic gene mutations are at higher risk of cancer. Such patients should receive genetic counseling related to PGD/PGS. PGD/PGS is first obtained through in vitro fertilization, the embryos (often at the blastocyst stage) are biopsied, and genetic testing is used to screen embryos for transplantation that do not carry pathogenic genetic mutations. When PGD/PGS for monogenic/single gene defects is done, PGD/PGS for aneuploidy can be tested meanwhile. Different from prenatal diagnosis, PGD/PGS can identify embryos carrying pathogenic mutation genes before pregnancy, effectively avoiding worries and considerations during pregnancy, and avoiding termination of pregnancy when pathogenic mutation is found in embryos. It is recommended that carriers with BRCA1/2 mutations undergo transvaginal ultrasound combined with serum CA125 screening from 30 to 35 years of age. The methods with early diagnosis technology still need to be developed.
With the development of society, the world pays more attention to health, The world is looking for a code to prevent disease. Medical technology is advancing so fast that it can solve many of the technical problems of the past and bring good news to people. Standardized consultation for hereditary tumors is helpful for screening and identifying high-risk individuals, and guide intervention measures based on genetic principles. It is not only beneficial to the prevention and early detection of tumors, but also can be involved in the selection of fertility decisions and subsequent endocrine therapy. Therefore, Gynecologic oncologists should cooperate with reproductive medicine doctors to provide fertility preservation, PGD/PGS and other related consultations for high-risk patients with gynecological tumors, and formulate diagnosis and treatment plans. With the development of gene detection technology, effective intervention measures should be implemented. It is very important to realize early prevention, early diagnosis and early treatment for cancer patients with familial genetic tendency.