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BMC Medical Genomics May 2024Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the... (Review)
Review
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations.
CASE PRESENTATION
A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5'UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient's history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified.
CONCLUSIONS
To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.
Topics: Humans; Tuberous Sclerosis; Female; Adult; Kidney Neoplasms; Carcinoma, Renal Cell; Tuberous Sclerosis Complex 2 Protein; Tuberous Sclerosis Complex 1 Protein; Mutation
PubMed: 38802873
DOI: 10.1186/s12920-024-01913-8 -
Gynecologic Oncology Reports Jun 2024Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking...
BACKGROUND
Uterine leiomyomas are benign tumors characterized by pelvic pain and abnormal bleeding. Their evolution can lead to degenerative changes, occasionally mimicking malignancies on imaging, presenting diagnostic challenges.
CASE PRESENTATION
A 31-year-old nulliparous woman presented with symptoms of bloating, cramping, and abdominal distension. Imaging suggested an advanced ovarian malignancy, showing a complex adnexal mass and elevated CA-125 levels. During exploratory laparotomy, what was suspected to be ovarian cancer was instead identified as a large uterine mass on pathologic evaluation revealing a benign leiomyoma with extensive hydropic change.
CONCLUSION
This case highlights the diagnostic intricacies associated with large complex adnexal masses and illustrates how benign conditions like leiomyomas with hydropic degeneration can mimic ovarian cancer. This emphasizes the importance of comprehensive preoperative and intraoperative assessments to tailor management and avoid unindicated radical procedures.
PubMed: 38798949
DOI: 10.1016/j.gore.2024.101415 -
Medicine May 2024The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is... (Review)
Review
RATIONALE
The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is relatively rare among the lacrimal gland tumors, and the early clinical symptoms are atypical, which can easily lead to misdiagnosis and missed diagnosis. Here, we report a case of MALT lymphoma of the lacrimal gland and explore its clinical manifestations, pathological characteristics, management, and pathogenesis, with the aim of helping clinicians gain an in-depth understanding of ocular adnexal MALT lymphoma.
PATIENT CONCERNS
A 60-year-old man presented to our hospital with proptosis and diplopia. The right eye deviated and shifted toward the lower part of the nose.
DIAGNOSIS
Orbital enhanced magnetic resonance imaging suggested a mass with a maximum cross-section of 3.2 × 2.1 cm. T1 weighted image was isointense, and the enhancement was more uniform and obvious.
INTERVENTIONS
The right orbital mass was treated surgically, and the final pathology report was MALT lymphoma. After the pathological report was released, the patient was transferred to the hematology department for further diagnosis and no further treatment was given eventually.
OUTCOMES
Seven months later, the patient did not complain of discomfort. Whole-body positron emission tomography-computed tomography, superficial lymph node examination and orbital magnetic resonance imaging revealed no abnormal changes.
LESSONS
The clinical manifestations of MALT lymphoma are heterogeneous. Imaging examination is important for assessing the size of the tumor and its relationship with adjacent tissues. Postoperative pathological examination may provide further evidence for the evaluation of the patient's surgical efficacy and prognosis. Management of MALT lymphoma of the lacrimal gland requires a multidisciplinary approach involving ophthalmologists, hematologists, and radiotherapists.
Topics: Humans; Lymphoma, B-Cell, Marginal Zone; Middle Aged; Male; Eye Neoplasms; Lacrimal Apparatus; Magnetic Resonance Imaging; Lacrimal Apparatus Diseases
PubMed: 38787969
DOI: 10.1097/MD.0000000000038303 -
Ultrasound in Obstetrics & Gynecology :... May 2024The primary aim was the validation of benign descriptors (BDs), followed by Assessment of Different NEoplasia's of the adneXa (ADNEX) (when BDs cannot be applied), in a...
OBJECTIVES
The primary aim was the validation of benign descriptors (BDs), followed by Assessment of Different NEoplasia's of the adneXa (ADNEX) (when BDs cannot be applied), in a two-step strategy to classify adnexal masses in pregnancy. The secondary aim was to describe the natural history of adnexal masses in pregnancy.
METHODS
Retrospective analysis of prospectively collected data of women with an adnexal mass on ultrasonography identified during pregnancy between 2017 and 2022. The study was conducted at Queen Charlotte's and Chelsea Hospital, UK. Relevant clinical and ultrasound data were extracted from the medical records and ultrasound software astraia. Adnexal masses were classified and managed according to expert subjective assessment (SA). Ultrasound features were recorded prospectively at the time of ultrasound examination. Borderline ovarian tumours (BOT) were classified as malignant. Benign Descriptors (BDs) were applied to classify adnexal masses, in cases where BDs were not applicable, the ADNEX model (using a risk of malignancy of >10%) was used, in a two-step strategy. The two-step strategy was applied retrospectively. The reference standard used was histology (where available) or expert SA at the postnatal ultrasound scan.
RESULTS
291 women with a median age of 33 (IQR 29-36) years presented with an adnexal mass in pregnancy, at a median gestation of 12 (IQR 8-17) weeks. 267 (267/291, 91.8%) women were followed up to the postnatal period, as 24 women (24/291, 8.2%) were lost to follow up. Based on the reference standard, 4.1% of adnexal masses (11/267) were classified as malignant (all BOTs) and 95.9% (256/267) as benign (41 on histology and 215 based on expert SA at postnatal ultrasound). BDs could be applied to 68.9% of adnexal masses (184/267); of these only one mass (BOT) was misclassified as benign (1/184, 0.5%). ADNEX was used to classify the residual masses (83/267) and misclassified three BOTs as benign (3/10, 30.0%) and 25 benign masses (based on reference standard) as malignant (25/73, 34.2%), 13 (13/25, 52.0%) of these were classified as decidualised endometriomas on expert SA, with confirmed resolution of decidualisation in the postnatal period. The two-step strategy had a specificity of 90.2%, sensitivity of 63.6%, negative predictive value of 98.3% and positive predictive value of 21.9%. 56 (56/267, 21.0%) women had surgical intervention, four as an emergency during pregnancy (4/267, 1.5%,) and four (4/267, 1.5%) electively during caesarean section. 48 (48/267, 18.0%) women had surgical intervention in the post-natal period, 11 (11/267, 4.1%) in the first 12 weeks postnatal and 37 >12 weeks (37/267, 13.9%) postnatal. 64 (64/267, 24.0%) adnexal masses resolved spontaneously during follow up. Cyst-related complications occurred in four women (4/267, 1.5%) during pregnancy (ovarian torsion n=2, cyst rupture n=2) and six (6/267, 2.2%) in the postnatal period (all ovarian torsion). 196 (196/267, 73.4%) had a persistent adnexal mass, including one of the women who had an ovarian torsion and underwent de-torsion and had a persistent adnexal mass at postnatal ultrasound. Presumed decidualisation occurred in 31.1% (19/61) of endometriomas and had resolved in 89.5% (17/19) by the first postnatal ultrasound scan.
CONCLUSION
We found Benign Descriptors apply to most masses in pregnancy, however the small number of malignant tumours in the cohort (4.1%) restricted the evaluation of the ADNEX model, so expert subjective assessment should be used to classify adnexal masses in pregnancy, when BDs do not apply. A larger multicentre prospective study is required to evaluate the use of the ADNEX model to classify adnexal masses in pregnancy. Our data suggests that most adnexal masses can be managed expectantly during pregnancy given a large proportion of masses spontaneously resolved and the low risk of complications. This article is protected by copyright. All rights reserved.
PubMed: 38787921
DOI: 10.1002/uog.27707 -
Australasian Journal of Ultrasound in... May 2024A low-grade appendiceal mucinous neoplasm (LAMN) is a cystic dilatation of the appendix resulting from the accumulation of mucinous secretions caused by a luminal...
A low-grade appendiceal mucinous neoplasm (LAMN) is a cystic dilatation of the appendix resulting from the accumulation of mucinous secretions caused by a luminal obstruction. Although usually benign, pseudomyxoma peritonei may occur in the event of rupture, and 10% of cases may be secondary to appendiceal cystadenocarcinoma. A LAMN is both more common and more likely to have a malignant association in women, making it an entity with which practitioners of gynaecological ultrasound should be familiar. Although not the primary aim, early pregnancy ultrasound assessments can offer the diagnostic opportunity to identify pelvic pathology. A LAMN can be identified on ultrasonography by visualisation of an adnexal mass separate to the ovary, which due to the layers of secretions has a distinctive appearance previously likened to 'onion-skin' or 'whipped-cream'. Here, we describe an incidental finding of a LAMN during an early pregnancy assessment. Practitioners of early pregnancy ultrasound should be familiar with the characteristic morphology of this rare but important finding.
PubMed: 38784695
DOI: 10.1002/ajum.12377 -
Journal of Women's Health (2002) Jun 2024Sexually transmitted infections (STIs) continue to increase in the United States with more than 2.5 million cases of gonorrhea, chlamydia, and syphilis reported to the... (Review)
Review
Sexually transmitted infections (STIs) continue to increase in the United States with more than 2.5 million cases of gonorrhea, chlamydia, and syphilis reported to the Centers for Disease Control and Prevention in 2022. Untreated STIs in women can lead to adverse outcomes, including pelvic inflammatory disease, infertility, chronic pelvic pain, and pregnancy complications such as ectopic pregnancy, early pregnancy loss, stillbirth, and neonatal transmission. STI-related guidelines can be complex and are frequently updated, making it challenging to stay informed on current guidance. This article provides high-yield updates to support clinicians managing STIs by highlighting changes in screening, diagnosis, and treatment. One important topic includes new guidance on syphilis screening, including a clarified description of high community rates of syphilis based on Healthy People 2030 goals, defined as a case rate of primary or secondary syphilis > 4.6 per 100,000. Reproductive aged persons living in counties above this threshold should be offered syphilis screening. Additionally, American College of Obstetricians & Gynecologists now recommends syphilis screening three times during pregnancy regardless of risk-at the first prenatal visit, during the third trimester, and at delivery. In addition, new guidance to support consideration for extragenital screening for gonorrhea and chlamydia in women at sites such as the anus and pharynx is discussed. Other topics include the most recent chlamydia, gonorrhea, trichomoniasis, and pelvic inflammatory disease treatment recommendations; screening and treatment guidance for ; genital herpes screening indications and current diagnostic challenges; and the diagnosis and management of mpox in women and during pregnancy.
Topics: Humans; Female; Sexually Transmitted Diseases; Pregnancy; United States; Syphilis; Pregnancy Complications, Infectious; Mass Screening; Chlamydia Infections; Gonorrhea; Practice Guidelines as Topic; Adult
PubMed: 38770770
DOI: 10.1089/jwh.2024.0367 -
International Journal of Surgery Case... Jun 2024Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without...
INTRODUCTION
Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without skin adnexal structures (such as hair, hair follicle, sweat gland, sebaceous gland) can be defined as epidermoid cyst. 7 % of these cysts occur in the head and neck, 1.6 % of which appear in the oral cavity. Gender distribution is balanced but more prevalent in males. Epidermoid cysts are the most common cutaneous cysts. These cysts are rarely discovered prior to puberty. It has been reported that 1 % of epidermoid cysts will malignantly develop into squamous cell carcinoma (SCC) or basal cell carcinoma (BCC).
CASE PRESENTATION
18-year-old male patient presented with 57.99 × 55.33 × 41.41 mm-sized epidermoid cyst treated at the Regional Hospital in Indonesia. The primary complaint was a painless, asymptomatic lump on the floor of the mouth which was felt 10 years ago. Two years prior, the lump enlarged, and the patient began to feel difficulty in swallowing, and respiratory distress appeared one year later. Supplementary examinations: ultrasonography, fine needle aspiration biopsy, plain radiography, multiple slice computed tomography scan was performed to support epidermoid cyst diagnosis.
DISCUSSION
An intraoral approach-based cystectomy with a horizontal incision was utilized for surgical treatment to avoid adjacent anatomic structure. Histopathological examination showed a macroscopic image of pouch tissue with approximately 0.2 cm-thick wall, brownish white in color with yellow mass like cheese pulp, and microscopic image of tissue covered with monomorphous complex squamous epithelium with eosinophilic keratinized mass lumen.
CONCLUSION
Following the procedure, there was no longer respiratory distress nor difficulty in swallowing and the patient recovered well with no deficiency in aesthetics.
PubMed: 38761688
DOI: 10.1016/j.ijscr.2024.109729 -
Frontiers in Medicine 2024Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery....
BACKGROUND
Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery. This results in a high number of unnecessary surgeries. A surveillance-based approach is recommended to form the basis for surgical referrals. We have previously reported the clinical performance of MIA3G, a deep neural network-based algorithm, for assessing ovarian cancer risk. In this study, we show that MIA3G markedly improves the surgical selection for women presenting with adnexal masses.
METHODS
MIA3G employs seven serum biomarkers, patient age, and menopausal status. Serum samples were collected from 785 women (IQR: 39-55 years) across 12 centers that presented with adnexal masses. MIA3G risk scores were calculated for all subjects in this cohort. Physicians had no access to the MIA3G risk score when deciding upon a surgical referral. The performance of MIA3G for surgery referral was compared to clinical and surgical outcomes. MIA3G was also tested in an independent cohort comprising 29 women across 14 study sites, in which the physicians had access to and utilized MIA3G prior to surgical consideration.
RESULTS
When compared to the actual number of surgeries ( = 207), referrals based on the MIA3G score would have reduced surgeries by 62% ( = 79). The reduction was higher in premenopausal patients (77%) and in patients ≤55 years old (70%). In addition, a 431% improvement in malignancy prediction would have been observed if physicians had utilized MIA3G scores for surgery selection. The accuracy of MIA3G referral was 90.00% (CI 87.89-92.11), while only 9.18% accuracy was observed when the MIA3G score was not used. These results were corroborated in an independent multi-site study of 29 patients in which the physicians utilized MIA3G in surgical consideration. The surgery reduction was 87% in this cohort. Moreover, the accuracy and concordance of MIA3G in this independent cohort were each 96.55%.
CONCLUSION
These findings demonstrate that MIA3G markedly augments the physician's decisions for surgical intervention and improves malignancy prediction in women presenting with adnexal masses. MIA3G utilization as a clinical diagnostic tool might help reduce unnecessary surgeries.
PubMed: 38756943
DOI: 10.3389/fmed.2024.1374836 -
Rapid Communications in Mass... Jul 2024Huahong tablet, a commonly used clinical Chinese patent medicine, shows good efficacy in treating pelvic inflammation and other gynaecological infectious diseases....
Ultrahigh-performance liquid chromatography Q-Exactive-Orbitrap mass spectrometry and molecular network analysis alongside network pharmacology to elucidate the active constituents and mechanism of action of Huahong tablet in treating pelvic inflammatory disease.
RATIONALE
Huahong tablet, a commonly used clinical Chinese patent medicine, shows good efficacy in treating pelvic inflammation and other gynaecological infectious diseases. However, the specific composition of Huahong tablets, which are complex herbal formulations, remains unclear. Therefore, this study aims to identify the active compounds and targets of Huahong tablets and investigate their mechanism of action in pelvic inflammatory diseases.
METHODS
We utilised ultrahigh-performance liquid chromatography Q-Exactive-Orbitrap mass spectrometry and the relevant literature to identify the chemical components of Huahong tablets. The GNPS database was employed to further analyse and speculate on the components. Potential molecular targets of the active ingredients were predicted using the SwissTargetPrediction website. Protein-protein interaction analysis was conducted using the STRING database, with visualisation in Cytoscape 3.9.1. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed using the DAVID database. Additionally, a traditional Chinese medicine-ingredient-target-pathway network was constructed using Cytoscape 3.10.1. Molecular docking validation was carried out to investigate the interaction between core target and specific active ingredient.
RESULTS
A total of 66 chemical components were identified, and 41 compounds were selected as potential active components based on the literature and the TCMSP database. Moreover, 38 core targets were identified as key targets in the treatment of pelvic inflammatory diseases with Huahong tablets. GO and KEGG enrichment analysis revealed 986 different biological functions and 167 signalling pathways.
CONCLUSION
The active ingredients in Huahong tablets exert therapeutic effects on pelvic inflammatory diseases by acting on multiple targets and utilising different pathways. Molecular docking confirmed the high affinity between the specific active ingredients and disease targets.
Topics: Drugs, Chinese Herbal; Chromatography, High Pressure Liquid; Pelvic Inflammatory Disease; Network Pharmacology; Humans; Mass Spectrometry; Female; Protein Interaction Maps; Tablets; Molecular Docking Simulation
PubMed: 38747108
DOI: 10.1002/rcm.9766 -
Fertility and Sterility Feb 2024To report an uncommon case of primary OP treated laparoscopically. Ectopic pregnancy (EP) is the leading cause of maternal mortality during the first trimester and the...
OBJECTIVE
To report an uncommon case of primary OP treated laparoscopically. Ectopic pregnancy (EP) is the leading cause of maternal mortality during the first trimester and the incidence increases with assisted reproductive techniques, occurring in approximately 1.5%-2.1% of patients undergoing in vitro fertilization. Omental pregnancy (OP) is an extremely rare form of EP accounting for less than 1% of all EPs. OP can be classified as primary or secondary on the basis of Studdiford's criteria. The preoperative diagnosis of OP is complex and usually occur in acute circumstances during a throughout intraoperative evaluation of the abdomen. A delayed diagnosis poses a serious threat to the survival of the patient; therefore, it is important to remark that EP can exist in unusual locations and prompt surgical intervention may be necessary.
DESIGN
A step-by-step narrated video of a rare clinical case and description of the surgical procedure.
SETTING
Tertiary Level Academic Hospital "IRCCS Azienda Ospedaliero - Universitaria di Bologna" Bologna, Italy.
PATIENT
A 36-year-old woman was referred to our emergency room because of acute abdominal pain and nausea for 2 hours with no signs of hemodynamic instability. The patient also complained that poor vaginal bleeding appeared during the last 24 hours. The patient has undergone a cycle of in vitro fertilization with an elective single frozen embryo transfer of a blastocyst on day 5, 2 months before. She had no relevant clinical or surgical history. Diffuse abdominal tenderness and a painful uterus at mobilization were appreciated at clinical examination. A massive hemoperitoneum was diagnosed using transvaginal-transabdominal ultrasound, and no uterine or adnexal lesions were identified. The β-human chronic gonadotropin level was 43.861 mIU/mL, and the hemoglobin value was 10.5 g/dL.
INTERVENTIONS
On suspicion of a ruptured EP, after detailed counseling and the acquisition of informed consent, a laparoscopic exploration was planned. First, the hemoperitoneum was evacuated to allow visualization of the abdominal cavity. At pelvic inspection, no EP was found. Throughout the exploration of the abdominal cavity, a 4-cm bluish cystic mass of friable consistency was detected infiltrating the omentum and the mesentery. According to Studdiford's criteria, the diagnosis of a primary OP was established. A careful and complete excision of the ectopic implant was performed with an ultrasonic system and required a considerable hemostatic effort using bipolar energy, endoscopic clips, and mechanical compression. The postoperative course was uneventful. The β-human chronic gonadotropin levels gradually decreased to negative values within 29 days after surgery.
MAIN OUTCOME MEASURE(S)
Omental ectopic pregnancy can be successfully managed with a laparoscopic approach even in an emergency setting.
CONCLUSION
Omental pregnancy can easily be overlooked, even by skilled surgeons, during laparoscopic exploration. It is mandatory that all peritoneal surfaces and the omentum be carefully inspected during surgery in patients without other signs of pelvic EP.We confirm that the patient included in this video gave consent for publication of the video and posting of the video online, including on social media, the journal website, scientific literature websites, and other applicable sites.
Topics: Humans; Female; Pregnancy; Hemoperitoneum; Laparoscopy; Adult; Fertilization in Vitro; Omentum; Pregnancy, Abdominal; Treatment Outcome
PubMed: 38742286
DOI: 10.1016/j.fertnstert.2023.10.025