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Hereditary Cancer in Clinical Practice Feb 2024Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal...
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review.
BACKGROUND
Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS.
CASE PRESENTATION
Here, we report a case of PJS in a 24-year-old female with multiple mucocutaneous black macules who complained of vaginal discharge and menorrhagia. Moreover, we first described the multimodal ultrasonographical manifestations of PJS-correlated G-EAC. The three-dimensional reconstructed view of G-EAC on 3D realisticVue exhibited a distinctive "cosmos pattern" resembling features on magnetic resonance imaging, and the contrast-enhanced ultrasound displayed a "quick-up and slow-down" pattern of the solid components inside the mixed cervical echoes. We reported the multimodal ultrasonographical characteristics of a case of PJS-related G-EAC, as well as reviewed PJS-related literature and medical imaging features and clinical characteristics of G-EAC to provide insight into the feasibility and potential of utilizing multimodal ultrasonography for the diagnosis of G-EAC.
CONCLUSIONS
Multimodal ultrasound can visualize morphological features, solid components inside, and blood supplies of the G-EAC lesion and distinguish the G-EAC lesion from normal adjacent tissues. This facilitates preoperative diagnosis and staging of PJS-related G-EAC, thereby aiding subsequent health and reproductive management for patients with PJS.
PubMed: 38419118
DOI: 10.1186/s13053-024-00275-7 -
Maturitas Jun 2024Abnormal uterine bleeding is a frequent symptom in the perimenopause. Causes are numerous, ranging from physiological reactions due to decreasing/unstable ovarian... (Review)
Review
Abnormal uterine bleeding is a frequent symptom in the perimenopause. Causes are numerous, ranging from physiological reactions due to decreasing/unstable ovarian function to premalignant and malignant conditions. Benign findings such as endometrial polyps and myomas increase with age, leading to more abnormal uterine bleeding in the perimenopause. Cervical and vaginal causes of abnormal uterine bleeding should be excluded by speculum examination. Sexually transmitted diseases or pregnancy should be ruled out. Measurement of haemoglobin and iron levels, human chorion gonadotropin and thyroid hormones are relevant in selected cases. Transvaginal ultrasound is an ideal first step for the evaluation of perimenopausal abnormal uterine bleeding. Saline or gel contrast sonohysterography improves the diagnostic accuracy. Based on the ultrasound findings, invasive procedures such as endometrial biopsy or hysteroscopy can be planned. Once premalignant and malignant causes are excluded, the necessity for treatment can be evaluated in collaboration with the patient. Heavy menstrual bleeding causing anaemia will need immediate treatment. In less severe cases and in intermenstrual bleeding, expectant management can be considered. Hormonal treatment, such as oral progestogens, combined oral contraceptives or insertion of the levonorgestrel intrauterine system, may be a possibility if anovulatory bleeding is interfering with quality of life. The amount of bleeding can be reduced both by antifibrinolytic and non-steroidal anti-inflammatory drugs, progestogens and the levonorgestrel intrauterine system. Focal intrauterine lesions such as endometrial polyps or submucous myomas may require operative hysteroscopic procedures. Endometrial ablation or endometrial resection are good choices in selected cases, but some women will need a hysterectomy to treat their abnormal uterine bleeding in perimenopause.
Topics: Humans; Female; Perimenopause; Uterine Hemorrhage
PubMed: 38412750
DOI: 10.1016/j.maturitas.2024.107944 -
International Journal of Gynecological... Apr 2024Optimal management of patients with stage IA p53abn endometrial cancer without myoinvasion, classified as intermediate risk in the 2020 European Society of...
OBJECTIVES
Optimal management of patients with stage IA p53abn endometrial cancer without myoinvasion, classified as intermediate risk in the 2020 European Society of Gynaecological Oncology, European Society for Radiotherapy and Oncology, and European Society of Pathology (ESGO-ESTRO-ESP) guidelines, and the 2022 European Society of Medical Oncology (ESMO) guidelines, is currently unclear. Practice varies from surgery alone to adjuvant radiation±chemotherapy. Our aim was to assess the risk of disease recurrence in patients with stage IA p53abn endometrial cancer without myoinvasion compared with stage IA with myoinvasion (<50%).
METHODS
Stage IA p53abn endometrial cancers were identified from retrospective cohorts. Cases were segregated into stage IA with no myoinvasion, including (1) tumor restricted to a polyp, (2) residual endometrial tumor, and (3) no residual tumor in hysterectomy specimen, versus stage IA p53abn with myoinvasion (<50%), with treatment and outcomes assessed.
RESULTS
There were 65 stage IA p53abn endometrial cancers with no myoinvasion (22 polyp confined, 38 residual endometrial tumor, 2 no residual in hysterectomy specimen, 3 not specified) and 97 with myoinvasion. There was no difference in survival outcomes in patients with stage IA without myoinvasion (16% of patients recurred, 19% if there was residual endometrial disease) compared with stage IA with myoinvasion (17%). The risk of recurrence was lowest in patients with stage IA p53abn endometrial cancer without myoinvasion treated with chemotherapy±radiation (8%). Most recurrences in patients with stage IA without myoinvasion were distant (89%), with no isolated vaginal vault recurrences, and all except one distant recurrence occurred in patients who had not received adjuvant chemotherapy.
CONCLUSION
The recurrence rate in patients with stage IA p53abn endometrial cancer without myoinvasion was 16%, highest in the setting of residual endometrial disease (19%), and exceeding the threshold where adjuvant therapy is often considered. The high frequency of distant recurrences observed may support chemotherapy as part of the treatment regimen.
Topics: Female; Humans; Retrospective Studies; Neoplasm Staging; Neoplasm Recurrence, Local; Endometrial Neoplasms; Radiotherapy, Adjuvant
PubMed: 38388178
DOI: 10.1136/ijgc-2023-005149 -
Annales de Pathologie Feb 2024
PubMed: 38341310
DOI: 10.1016/j.annpat.2023.11.002 -
Annals of Medicine and Surgery (2012) Feb 2024Endometrial polyps (EPs) result from the overgrowth of endometrial glands and stroma. Giant endometrial polyps, defined as those exceeding 4 cm, are rare, and their...
INTRODUCTION
Endometrial polyps (EPs) result from the overgrowth of endometrial glands and stroma. Giant endometrial polyps, defined as those exceeding 4 cm, are rare, and their association with phytoestrogen (PE) intake is infrequently reported.
CASE PRESENTATION
The authors present a case of a giant endometrial polyp in a 59-year-old post-menopausal woman from Nepal. The patient presented with lower abdominal pain and a history of vaginal spotting. She was not under any drugs or medications, including hormones, but had a regular intake of PE-rich foods. Imaging revealed a giant endometrial polyp and a uterine fibroid. Total abdominal hysterectomy and bilateral salpingo-oophorectomy (TAH-BSO) were performed and histopathology examination confirmed the diagnosis of endometrial polyp and fibroid.
DISCUSSION
In our case, the patient's increased age and PE-rich diet were identified as potential risk factors for the giant endometrial polyp. Giant endometrial polyps are rare, with limited cases reported to date, often associated with tamoxifen or raloxifene use. Phytoestrogens can exhibit oestrogenic effects, contributing to endometrial polyps. This case emphasizes the importance of further research to explain the relationship between phytoestrogen intake and giant endometrial polyps.
CONCLUSION
Giant endometrial polyps are uncommon, and their association with phytoestrogen intake remains underexplored. Clinicians should consider dietary factors in history while evaluating endometrial polyps, and further research is necessary to explore the potential role of phytoestrogens in the development of giant endometrial polyps.
PubMed: 38333296
DOI: 10.1097/MS9.0000000000001667 -
Gynecologie, Obstetrique, Fertilite &... May 2024To update the 2010 CNGOF clinical practice guidelines for the first-line management of infertile couples.
OBJECTIVE
To update the 2010 CNGOF clinical practice guidelines for the first-line management of infertile couples.
MATERIALS AND METHODS
Five major themes (first-line assessment of the infertile woman, first-line assessment of the infertile man, prevention of exposure to environmental factors, initial management using ovulation induction regimens, first-line reproductive surgery) were identified, enabling 28 questions to be formulated using the Patients, Intervention, Comparison, Outcome (PICO) format. Each question was addressed by a working group that had carried out a systematic review of the literature since 2010, and followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE®) methodology to assess the quality of the scientific data on which the recommendations were based. These recommendations were then validated during a national review by 40 national experts.
RESULTS
The fertility work-up is recommended to be prescribed according to the woman's age: after one year of infertility before the age of 35 and after 6months after the age of 35. A couple's initial infertility work-up includes a single 3D ultrasound scan with antral follicle count, assessment of tubal permeability by hysterography or HyFOSy, anti-Mullerian hormone assay prior to assisted reproduction, and vaginal swabbing for vaginosis. If the 3D ultrasound is normal, hysterosonography and diagnostic hysteroscopy are not recommended as first-line procedures. Chlamydia trachomatis serology does not have the necessary performance to predict tubal patency. Post-coital testing is no longer recommended. In men, spermogram, spermocytogram and spermoculture are recommended as first-line tests. If the spermogram is normal, it is not recommended to check the spermogram. If the spermogram is abnormal, an examination by an andrologist, an ultrasound scan of the testicles and hormonal test are recommended. Based on the data in the literature, we are unable to recommend a BMI threshold for women that would contraindicate medical management of infertility. A well-balanced Mediterranean-style diet, physical activity and the cessation of smoking and cannabis are recommended for infertile couples. For fertility concern, it is recommended to limit alcohol consumption to less than 5 glasses a week. If the infertility work-up reveals no abnormalities, ovulation induction is not recommended for normo-ovulatory women. If intrauterine insemination is indicated based on an abnormal infertility work-up, gonadotropin stimulation and ovulation monitoring are recommended to avoid multiple pregnancies. If the infertility work-up reveals no abnormality, laparoscopy is probably recommended before the age of 30 to increase natural pregnancy rates. In the case of hydrosalpinx, surgical management is recommended prior to ART, with either salpingotomy or salpingectomy depending on the tubal score. It is recommended to operate on polyps>10mm, myomas 0, 1, 2 and synechiae prior to ART. The data in the literature do not allow us to systematically recommend asymptomatic uterine septa and isthmoceles as first-line surgery.
CONCLUSION
Based on strong agreement between experts, we have been able to formulate updated recommendations in 28 areas concerning the initial management of infertile couples.
Topics: Humans; Female; Infertility, Female; Male; France; Infertility, Male; Gynecology; Obstetrics; Ovulation Induction; Reproductive Techniques, Assisted; Adult; Societies, Medical; Pregnancy; Obstetricians; Gynecologists
PubMed: 38311310
DOI: 10.1016/j.gofs.2024.01.014 -
Life (Basel, Switzerland) Dec 2023Atypical polypoid adenomyoma (APAM) is a rare polypoid benign tumor of the uterus that causes irregular vaginal bleeding in women of reproductive age. It has the...
Atypical polypoid adenomyoma (APAM) is a rare polypoid benign tumor of the uterus that causes irregular vaginal bleeding in women of reproductive age. It has the potential for malignant transformation, but it does not metastasize. APAM may coexist with endometrial hyperplasia and adenocarcinoma, usually leading to misdiagnosis. Histopathologically, it is a biphasic tumor, represented by the endometrioid glands with a complex histoarchitecture, with sometimes squamous morular metaplasia or cytologic atypia, interspersed with a fibromyomatous stroma. This tumor has a high incidence of recurrence. We present a very rare case of a 21-year-old patient, a virgin, without a significant medical history, with a bleeding mass occupying the vagina. The mass was excised using forceps, scissors, and a suture of the visible pedicle. After a four-year follow-up and no additional medical treatment, no relapse was observed. Given the risk of recurrence and progression, APAM might be treated via a hysterectomy in patients with no desire for pregnancy. Due to a lower recurrence rate, the conservative treatment of atypical polypoid adenomyoma performed via an operative hysteroscopy represents the best choice. Previously diagnosed in hysterectomy specimens, with the introduction of better-performing indirect imaging techniques, adenomyosis is a clinical entity that has the possibility of being diagnosed in the presurgical stage.
PubMed: 38137953
DOI: 10.3390/life13122352 -
Ginekologia Polska Dec 2023In this retrospective observational study, cases from our institution were included and the published literature reviewed to investigate the diagnosis and prognosis of...
OBJECTIVES
In this retrospective observational study, cases from our institution were included and the published literature reviewed to investigate the diagnosis and prognosis of cervical rhabdomyosarcoma, a rare group of tumours.
MATERIAL AND METHODS
The clinicopathological data of 12 patients with cervical rhabdomyosarcoma (RMS) treated at the West China Second University Hospital of Sichuan University from January 2006 to May 2023 were collected, and their clinicopathological characteristics, diagnoses, treatments, prognoses and pregnancy outcomes were retrospectively analysed.
RESULTS
(1) Clinical characteristics: The ages of the 12 RMS patients ranged from 15 to 50 years, with a median age of 17 years. Five of the patients were adults, and seven were adolescents. The initial symptoms were vaginal bleeding in 5 patients, vaginal tissue prolapse in 6 patients, and abdominal pain and urinary frequency in 1 patient. Two patients were considered to have "cervical polyps" and underwent polypectomy at the other hospitals, but the cervical mass recurred soon thereafter. (2) Pathological features: The maximum tumour diameter ranged from 3 to 25 cm. The twelve cases of cervical RMS consisted of embryonal rhabdomyosarcoma (ERMS) in 7 adolescents, ERMS in 3 adults, and pleomorphic rhabdomyosarcoma (PRMS) in 2 adults. Immunohistochemical results showed the expression of one or more characteristic markers of RMS. We reclassified tumour stage according to the Intergroup Rhabdomyosarcoma Study (IRS) clinical group and tumour node metastasis (TNM) classification. (3) Treatment: Eight patients underwent radical surgery (66.7%, 8/12), including all 5 of the included adults and 3 of the adolescents, 2 of whom were treated 10 years ago. Conservative surgical resection was performed on four patients (33.3%, 4/12), all of whom were adolescents. Postoperative chemotherapy was given to all patients except one, but one patient who underwent radical surgery discontinued chemotherapy on her own without receiving a full course. Two of the ERMS patients underwent preoperative chemotherapy, and the lesions were significantly reduced. (4) Prognosis: One of the 12 patients with cervical RMS was lost to follow-up. Of the remaining 11 patients, 10 (including seven adolescents and three adults) survived tumour free (90.9%, 10/11), and 1 adult patient with existing pulmonary multiple metastases (IRS stage IV, T2N0M1) at the initial diagnosis survived 9 months with progression-free disease (9.1%, 1/11). The median survival time was 91 months (5 to 213 months). Among 4 patients receiving fertility-sparing management, 1 conceived and delivered successfully (25%).
CONCLUSIONS
The treatment of cervical RMS must take the patient's age and reproductive intent into account. The overall prognosis for cervical RMS in children and adolescents is good, and conservative surgical resection combined with chemotherapy is recommended to preserve fertility. The pregnancy outcome is also worth anticipating. For patients who have completed childbirth, radical surgery is preferred. Approaches to accurately assessing the patient's condition, grasping the indications and scope of surgery, and developing chemoradiotherapy regimens deserve further exploration.
PubMed: 38126889
DOI: 10.5603/gpl.96919 -
Bioscience Trends Jan 2024Microorganisms are ubiquitous in the human body; they are present in various areas including the gut, mouth, skin, respiratory tract, and reproductive tract. The... (Review)
Review
Microorganisms are ubiquitous in the human body; they are present in various areas including the gut, mouth, skin, respiratory tract, and reproductive tract. The interaction between the microbiome and reproductive health has become an increasingly compelling area of study. Disruption of the female genital tract microbiome can significantly impact the metabolism of amino acids, carbohydrates, and lipids, increasing susceptibility to reproductive tract diseases such as vaginitis, chronic endometritis, endometrial polyps, endometriosis, and polycystic ovary syndrome. The gut microbiome, considered an endocrine organ, plays a crucial role in the reproductive endocrine system by interacting with hormones like estrogen and androgens. Imbalances in the gut microbiome composition can lead to various diseases and conditions, including polycystic ovary syndrome, endometriosis, and cancer, although research on their mechanisms remains limited. This review highlights the latest advancements in understanding the female genital tract and gut microbiomes in gynecological diseases. It also explores the potential of microbial communities in the treatment of reproductive diseases. Future research should focus on identifying the molecular mechanisms underlying the association between the microbiome and reproductive diseases to develop new and effective strategies for disease prevention, diagnosis, and treatment related to female reproductive organs.
Topics: Female; Humans; Gastrointestinal Microbiome; Polycystic Ovary Syndrome; Endometriosis; Genitalia, Female; Reproduction
PubMed: 38104979
DOI: 10.5582/bst.2023.01133 -
Reproductive Biomedicine Online Feb 2024What are the different characteristics of vaginal microbial composition between patients with endometrial polypoid lesions and controls?
RESEARCH QUESTION
What are the different characteristics of vaginal microbial composition between patients with endometrial polypoid lesions and controls?
DESIGN
This cohort study compared the pre-operative microbial compositions of vaginal samples in a cohort of 703 women with endometrial polypoid lesions [293 and 410 women diagnosed and not diagnosed with polyps pathologically (polyps group and not-polyps group, respectively] and 703 women in the control group. Bacterial abundance, diversity, differential taxa and microbial network structure were assessed using 16S rRNA gene sequencing. Predictive algorithms were used to determine the functional pathways of vaginal microbiota within the cohort.
RESULTS
The control group exhibited higher relative abundance of Lactobacillus crispatus in comparison with the polypoid lesions group (P = 0.0427). Beta diversity of vaginal microbiota differed significantly between the groups (P < 0.05). Comparing the polyps group with the not-polyps group, Leptotrichia spp. and Cutibacterium spp. were more abundant in the polyps group, and Fannyhessea spp., Acinetobacter spp. and Achromobacter spp. were more abundant in the not-polyps group. The control group exhibited higher abundance of Bifidobacterium spp., Achromobacter spp. and Escherichia/Shigella spp. (false discovery rate < 0.05). Furthermore, the polyps group and not-polyps group displayed more complex co-occurrence networks compared with the control group.
CONCLUSIONS
The results of this study provide compelling evidence supporting associations between vaginal microbiota and endometrial polypoid lesions, highlighting the potential relationship between a well-balanced vaginal microbial ecosystem and a healthy intrauterine environment.
Topics: Female; Humans; Cross-Sectional Studies; Cohort Studies; RNA, Ribosomal, 16S; Microbiota; Reproduction; Vagina
PubMed: 38101145
DOI: 10.1016/j.rbmo.2023.103602