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1.
Cureus ; 16(7): e63587, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39087153

ABSTRACT

This article reports a case of a patient with intestinal obstruction admitted to the hospital whose presumed diagnosis by CT was jejunojejunal intussusception. The patient underwent exploratory laparotomy with an enterectomy of the invaginated segment. The histopathological and immunohistochemical results of the surgical specimen confirmed the presence of a small bowel leiomyoma. This case highlights the importance of a detailed clinical evaluation of patients with an intestinal obstruction who seek emergency care. The cause of intestinal obstruction is a diagnostic challenge due to the numerous pathologies that can lead to the development of the condition. Guided anamnesis, detailed physical examinations, and accurate subsidiary exams that do not delay diagnosis are the cornerstones of emergency room care. Knowing the ideal time to refer the patient to the operating room requires knowledge and practice. The patient reported in this article with jejunal leiomyoma as a cause of intestinal intussusception is surprising for its rarity and illustrates the range of pathologies that can lead to intestinal obstruction.

2.
BMC Pulm Med ; 24(1): 376, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39090648

ABSTRACT

Pulmonary benign metastasizing leiomyoma is an uncommon condition, predominantly affecting women of childbearing age with a history of uterine smooth muscle tumors and uterine leiomyoma surgery for uterine leiomyoma. The progression of PBML is often unpredictable and depends on the extent of lung involvement. Generally, most patients remain asymptomatic, but a minority may experience coughing, wheezing, or shortness of breath, which are frequently misdiagnosed as pneumonia. consequently, this presents significant challenges in both treatment and nursing care before diagnosis. This paper reports the case of a 35-year-old woman primarily diagnosed with acute hypoxic respiratory failure who was transferred from the emergency room to the intensive care unit. The initial computed tomography scan of the patient's lungs indicated diffuse interstitial pneumonia, but the sequencing of the alveolar lavage fluid pathogen macro did not detect any bacteria, fungi, or viruses. Moreover, the patient remained in a persistent hypoxic state before the definitive diagnosis. Therefore, our focus was on maintaining the airway patency of the patient, using prone ventilation, inhaling nitric oxide, monitoring electrical impedance tomography, and preventing ventilator-associated pneumonia to improve oxygenation, while awaiting immunohistochemical staining of the patient's biopsied lung tissue. This would help us clarify the diagnosis and treat it based on etiology. After meticulous treatment and nursing care, the patient was weaned off the ventilator after 26 days and transferred to the respiratory ward after 40 days. This case study may serve as a reference for clinical practice and assist patients suffering from PBML.


Subject(s)
Leiomyoma , Lung Neoplasms , Respiratory Insufficiency , Uterine Neoplasms , Humans , Female , Adult , Leiomyoma/pathology , Leiomyoma/complications , Leiomyoma/diagnosis , Respiratory Insufficiency/etiology , Lung Neoplasms/secondary , Lung Neoplasms/complications , Lung Neoplasms/pathology , Uterine Neoplasms/pathology , Uterine Neoplasms/complications , Uterine Neoplasms/diagnosis , Tomography, X-Ray Computed , Hypoxia/etiology , Diagnosis, Differential
3.
Int J Surg Pathol ; : 10668969241256117, 2024 Jul 25.
Article in English | MEDLINE | ID: mdl-39051589

ABSTRACT

Angioleiomyoma is an uncommon benign neoplasm of mesenchymal origin that arises from perivascular smooth muscle cells. This soft tissue neoplasm usually occurs in the dermal or subcutaneous tissues of the extremities, head and neck, or trunk with fewer than 40 reported angioleiomyomas arising in the uterine corpus. Herein we report a uterine angioleiomyoma in a 44-year-old G5P4 Hispanic woman with a longstanding history of recurrent abdominal pain, pelvic organ prolapse, abnormal uterine bleeding, anemia, and hypertension. The patient underwent surgical treatment with total laparoscopic hysterectomy with bilateral salpingectomy and a uterosacral ligament suspension. Uterine angioleiomyoma was diagnosed post-operatively based on gross and microscopic features. The location of the uterine angioleiomyoma within the myometrium corresponded with contrast enhancement apparent on preoperative imaging. This and other uterine angioleiomyomas have characteristic imaging, macroscopic, and microscopic features which distinguish it from leiomyoma. Enhancing awareness of this underrecognized entity will facilitate precise diagnosis and thereby enable improved understanding of the clinicopathological characteristics of uterine angioleiomyoma.

4.
Pathol Res Pract ; 260: 155462, 2024 Jul 14.
Article in English | MEDLINE | ID: mdl-39053134

ABSTRACT

Lipoleiomyomas are rare variants of uterine leiomyomas rarely studied in the literature. We retrospectively studied 20 cases of uterine lipoleiomyomas showing that these lesions represent 0.7 % of all uterine leiomyomas diagnosed histologically. The patients did not experience any recurrence, and the tumors showed no morphological criteria of malignancy. They did not show significant p16, p53 or MiB1 expression. They showed diffuse and strong expression or estrogen and progesterone receptors by the smooth muscle component but without accompanying expression by the adipocytic component in one third of the cases. Androgen receptors were rarely expressed. They expressed in their majority HMGA2 in both components, while RB1 was usually not found. Fumarate hydratase (FH) is expressed by lipoleiomyomas, while they are negative for HMB45. In conclusion, uterine lipoleiomyomas are rare, benign tumors, characterized by HMGA2 expression, while they show no elements suspicious of malignancy, PEComas or FH deficiency. The role of RB1 in these tumors should be further explored.

5.
Cureus ; 16(6): e63116, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39055427

ABSTRACT

Uterine leiomyosarcoma (LMS) is an uncommon disease that arises from the smooth muscles present in the uterus. It usually occurs in post-menopausal women. Due to its aggressive nature, it has a very poor prognosis. We present a case of uterine LMS, which presented at a young age of 35 years for infertility, which is rare at this age. She had a fundal fibroid for which myomectomy was done. On histopathology, she was diagnosed with LMS. It is very difficult and nearly impossible to diagnose LMS preoperatively by available imaging modalities. There is an urgent need for a reliable preoperative risk scoring system that can help in diagnosing malignancy so that a correct surgical pathway and treatment can be offered to patients. A total abdominal hysterectomy (TAH) with bilateral salpingo-oophorectomy (BSO) was done and was advised adjuvant chemotherapy. The patient remained disease-free and was put on chemotherapy.

6.
Int J Hyperthermia ; 41(1): 2377346, 2024.
Article in English | MEDLINE | ID: mdl-39004082

ABSTRACT

PURPOSE: To investigate the value of susceptibility weighted imaging (SWI) for assessing the hyperacute outcome of ablation of uterine fibroids immediately after magnetic resonance-guided focused ultrasound (MRgFUS) treatment. METHODS: This retrospective imaging study included patients who underwent SWI and contrast-enhanced (CE) MR within 15 min of MRgFUS ablation for uterine fibroids. Two readers independently assessed the SWI features of ablative lesions and their association with the non-perfused volume (NPV) ratio. The intraclass correlation coefficient (ICC) and diagnostic value of SWI findings were calculated. RESULTS: A total of 27 uterine fibroids from 21 participants (mean age 40.1 ± 7.2 years) were analyzed. 51.9% (14/27) leiomyomas had NPV ratio ≥90%. In post-ablation SWI images, the interobserver ICC for the relative signal intensity and hypointense peripheral rim were 0.613 and 0.843, respectively (both p < .001). There was a significant difference in the prevalence of hypointense peripheral rim in leiomyomas with NPV ratio ≥90% and < 90% (p < .01), while the prevalence of relative signal intensity showed no significant difference (p > .05). When using the complete hypointense peripheral rim as a diagnostic criterion to identify NPV ratio ≥ 90%, readers 1 and 2 showed diagnostic sensitivity, specificity, and accuracy of 85.7%, 76.9%, 81.5%, and 78.6%, 76.9%, 77.8%, respectively. CONCLUSION: Identifying a complete hypointense peripheral rim on SWI may be a potential imaging marker for assessing the hyperacute outcome of uterine fibroids ablation by MRgFUS, specifically in determining whether the NPV ratio is ≥90%.


Subject(s)
High-Intensity Focused Ultrasound Ablation , Leiomyoma , Magnetic Resonance Imaging , Humans , Female , Leiomyoma/diagnostic imaging , Leiomyoma/surgery , Adult , Magnetic Resonance Imaging/methods , High-Intensity Focused Ultrasound Ablation/methods , Retrospective Studies , Middle Aged , Treatment Outcome , Uterine Neoplasms/surgery , Uterine Neoplasms/diagnostic imaging
7.
F S Sci ; 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-39004304

ABSTRACT

OBJECTIVE: To evaluate the impact of Coenzyme Q-10 (CoQ-10) on the dysregulated synthesis of extracellular matrix proteins mediated by transforming growth factor beta 3 (TGF-ß3) in uterine leiomyomas DESIGN: Laboratory study SUBJECTS: None INTERVENTIONS: Treatment of immortalized uterine myometrial and leiomyoma cells to TGF-ß3 and CoQ-10 MAIN OUTCOME MEASURES: Protein concentration of collagen 1A1 (COL1A1), collagen 3A1 (COL3A1), collagen 11A1 (COL11A1), and fibronectin (FN1) was assessed through western blot analysis after treatment of immortalized uterine myometrial and leiomyoma cells with both TGF-ß3 and concentrations of CoQ-10 at 10, 50, and 100 µM concurrently for 24 hours. RESULTS: Immortalized uterine leiomyoma and myometrial cells exposed to TGF-ß3 for 24 hours demonstrated a significant upregulation of COL1A1, COL3A1, COL11A1, and FN1 as compared to untreated cells. In leiomyoma cells, concurrent treatment with CoQ-10 over the same timeframe revealed a dose-dependent decrease of these protein concentrations as compared to cells treated with TGF-ß3 alone. At the highest concentration of 100 µM CoQ-10, significant decreases in the amount of COL1A1 (0.59 + 0.10-fold, P = 0.03), COL3A1 (0.46 + 0.09-fold, P = 0.002), COL11A1 (0.53 + 0.09-fold, P = 0.01), and FN1 (0.56 + 0.09-fold, P = 0.002) were observed. Similarly, myometrial cells exposed to both TGF-ß3 and CoQ-10 demonstrated a dose-responsive decline in the amount of extracellular matrix protein as compared to cells exposed to TGF-ß3 alone. Significant reductions in the amount of COL1A1 (0.75 + 0.03-fold, P = 0.03), COL3A1 (0.48 + 0.06-fold, P = 0.04), COL11A1 (0.38 + 0.06, P = 0.003), and FN1 (0.69 + 0.04-fold, P = 0.006) were appreciated at 100 µM CoQ-10. CONCLUSION: CoQ-10 mitigated the aberrant production of key biomarkers of the extracellular matrix mediated by TGF-ß3 in uterine leiomyomas. Our findings highlight a promising nonhormonal compound that can counteract the fibroproliferative process inherent to leiomyomas.

8.
Cells ; 13(13)2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38994959

ABSTRACT

Uterine leiomyosarcoma (uLMS) is the most common subtype of uterine sarcomas. They have a poor prognosis with high rates of recurrence and metastasis. The five-year survival for uLMS patients is between 25 and 76%, with survival rates approaching 10-15% for patients with metastatic disease at the initial diagnosis. Accumulating evidence suggests that several biological pathways are involved in uLMS pathogenesis. Notably, drugs that block abnormal functions of these pathways remarkably improve survival in uLMS patients. However, due to chemotherapy resistance, there remains a need for novel drugs that can target these pathways effectively. In this review article, we provide an overview of the recent progress in ascertaining the biological functions and regulatory mechanisms in uLMS from the perspective of aberrant biological pathways, including DNA repair, immune checkpoint blockade, protein kinase and intracellular signaling pathways, and the hedgehog pathway. We review the emerging role of epigenetics and epitranscriptome in the pathogenesis of uLMS. In addition, we discuss serum markers, artificial intelligence (AI) combined with machine learning, shear wave elastography, current management and medical treatment options, and ongoing clinical trials for patients with uLMS. Comprehensive, integrated, and deeper insights into the pathobiology and underlying molecular mechanisms of uLMS will help develop novel strategies to treat patients with this aggressive tumor.


Subject(s)
Leiomyosarcoma , Uterine Neoplasms , Humans , Leiomyosarcoma/diagnosis , Leiomyosarcoma/pathology , Leiomyosarcoma/therapy , Leiomyosarcoma/drug therapy , Leiomyosarcoma/genetics , Female , Uterine Neoplasms/diagnosis , Uterine Neoplasms/drug therapy , Uterine Neoplasms/pathology , Uterine Neoplasms/genetics , Uterine Neoplasms/therapy , Prognosis , Molecular Targeted Therapy , Biomarkers, Tumor/metabolism
9.
Cureus ; 16(6): e62436, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39011196

ABSTRACT

This report details cases of uterine fibroid-associated deep vein thrombosis leading to massive pulmonary embolism, as well as the likely associated physiology. Two women, aged 33 and 37, presented with fibroid-associated pulmonary embolism. They both had large uterine sizes and no underlying thrombophilia. Case 1 had an uncomplicated course, whereas Case 2 had a course complicated by cardiac arrest and prolonged recovery. The presence of fibroids enhances coagulation and platelet adhesion. Mechanical compression also plays a role in predisposing to thrombosis. There may be a role for preoperative screening, especially in those with an elevated estimated uterine weight.

10.
Cureus ; 16(6): e62220, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39006682

ABSTRACT

Cutaneous leiomyomas are benign and rare smooth muscle tumors. Genital leiomyoma includes leiomyomas located in the nipple, scrotum, areola or vulva. Nipple leiomyomas are the least common genital leiomyomas and are commonly seen to occur in middle-aged women. Here, we present a case of a 40-year-old female complaining of a growth over the right nipple for six months. On local examination, it was a 1cm x 1cm growth on the lateral aspect of the nipple. Finally, a treatment plan of complete excision was done. Grossly, it was a well-circumscribed skin-covered soft tissue bit with a skin flap measuring 0.6cm x 0.6cm and soft tissue measuring 0.6cm x 0.5cm x 0.2cm. Histopathological examination revealed a skin-covered section with dermis showing a well-circumscribed unencapsulated lesion that showed intersecting fascicles of spindle cells with no atypia or mitoses noted. Microscopically, the growth had tumor-free resection margins. Immunohistochemical confirmation with S100, smooth muscle actin (SMA) and caldesmon was done. Diagnosis of nipple leiomyoma was given with strong SMA positivity. Nipple leiomyoma is a rare, benign lesion and needs to be correctly diagnosed microscopically. Biopsy and immunohistochemistry is a confirmatory investigation that can lead to timely management of the patient.

11.
J Surg Oncol ; 2024 Jul 22.
Article in English | MEDLINE | ID: mdl-39038195

ABSTRACT

Uterine leiomyoma is a benign tumor of myometrial tissue which usually affects women of reproductive age. Its prevalence increases with age and has a peak incidence at the age of 40. Metastasizing leiomyomas are dense connective tissue and smooth myometrial muscle cells tumors located outside the uterus. We present the case report of a 55-year-old female referred to investigate pulmonary nodules with the diagnosis of metastasizing leiomyoma.

12.
Int J Surg Case Rep ; 122: 109788, 2024 May 21.
Article in English | MEDLINE | ID: mdl-39032352

ABSTRACT

INTRODUCTION: Leiomyoma torsion is an incredibly rare entity. Diagnosis is frequently intraoperative due to poor correlation between clinical symptoms and radiological findings. We report a case of a twisted uterine leimyoma diagnosed intraoperatively. CASE PRESENTATION: Our patient was 46 years old, nulliparous woman, presented to the emergency department with three days of acute pelvic pain. On physical examination, a firm and tender pelvic mass was palpable, extending below the umbilicus, suggestive of uterine origin. Laboratory investigations revealed an inflammatory response. Ultrasound identified a large abdomino-pelvic mass adherent to the right side of the uterus, with no detectable blood flow on Doppler examination. Given the diagnostic uncertainty, exploratory laparoscopy was performed. The diagnosis of a pedunculated Leiomyoma torsion with acute appendicitis was confirmed. Initially we performed a fibroid detorsion then a myomectomy and appendectomy were performed. CLINICAL DISCUSSION: The torsion of the vascular pedicle of a subserous leiomyoma can lead to ischemic gangrene and peritonitis, which can cause mortality. The risk factors that contribute to the fibroid torsion include the size, the stalk of the pedunculated myoma that must be thin and long in order for it to undergo rotation and torsion. There are no specific clinical signs or imaging modalities that reliably indicate the diagnosis. A diagnostic laparoscopy is most often indicated in case of diagnostic doubt. Surgery may consist in myomectomy or hysterectomy. CONCLUSION: It is important to consider the possibility of torsed leiomyoma in the differential diagnosis in any woman presenting with an intra-abdominal and pelvic mass with acute abdomen.

13.
Radiol Case Rep ; 19(9): 3677-3682, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38983279

ABSTRACT

Vascular leiomyomas are infrequent benign soft tissue neoplasms arising from vascular wall. These lesions are more frequent in females, predominantly seen in lower extremities presenting as slowly enlarging freely mobile palpable soft tissue lesions, often painful. The role of imaging in small peripheral soft tissue masses is often limited to preoperative mapping with a long list of potential differentials. We are presenting 2 case studies of palpable masses with similar pathology, soft tissue vascular leiomyomas where its MR features can be helpful in inclusion of this entity not only in differential diagnosis of enhancing small peripheral soft tissue masses but can suggest a diagnosis in appropriate clinical scenario.

14.
World J Clin Cases ; 12(18): 3529-3533, 2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38983438

ABSTRACT

BACKGROUND: Leiomyomas (LMs) are mesenchymal tumors that arise from smooth muscle cells. LMs most commonly arise in organs with an abundance of smooth muscle such as the uterus and gastrointestinal tract. Conversely, LMs are rarely detected in the head and neck region. In this study, we report a rare case of laryngeal LM (LLM) and summarized the clinical characteristics of reported LLMs to help clinicians better understand this rare disease and improve its diagnosis, treatment, and postoperative course. CASE SUMMARY: A 49-year-old man was admitted to our ENT outpatient clinic with a chief complaint of pharynx discomfort for 2 months. Laryngoscopy performed under topical anesthesia revealed a solitary, pink mass at the tubercle of epiglottis. Surgery via laryngeal endoscopy was performed under general anesthesia, and the lesion was excised easily. Positive immunohistochemical staining for desmin and smooth-muscle actin indicated a smooth muscle origin and the diagnosis was laryngeal leiomyoma. After surgery, the patient's condition was stable, and he was discharged 2 d after surgery. During the 1-year postoperative period, the patient's condition remained stable without evidence of recurrence. CONCLUSION: Surgical resection is the preferred treatment for LLMs, its early diagnosis and differential diagnosis have important clinical significance.

15.
Euroasian J Hepatogastroenterol ; 14(1): 20-23, 2024.
Article in English | MEDLINE | ID: mdl-39022203

ABSTRACT

Background: Gastrointestinal stromal tumors (GISTs) have malignant potential. Distinction of GISTs from leiomyoma is important to the decision of follow-up or treatment for upper gastrointestinal tract subepithelial lesions (SELs). There are few studies on the evaluation of gastrointestinal SELs with endoscopic ultrasound (EUS) elastography. Aims: To evaluate the efficiency of strain ratio (SR) measurement and Giovannini's classification (Gc) by EUS elastography in differentiating GISTs from leiomyomas. Materials and methods: Twenty-three lesions with histopathological diagnoses of 13 GISTs and 10 leiomyomas were evaluated. The lesions' SR values were obtained from EUS reports retrospectively. Giovannini's classification was performed according to the elastography images recorded in the system. The effectiveness of SR and Gc in the distinction between GIST and leiomyomas was evaluated. Results: Twelve of the GISTs and 3 of the leiomyomas were with scores 4 and 5 according to Gc (p = 0.006). Gastrointestinal stromal tumors had a higher SR than leiomyomas (p = 0.001). For the diagnosis of GISTs, sensitivity/specificity/diagnostic accuracy were 92.3%/80%/87% for SR alone, 92.3%/70%/82.6% for Gc alone, and 84.6%/80%/82.6% for the use of both SR and Gc. Conclusions: This is the first study in which semi-quantitative (SR) and qualitative (Gc) methods were evaluated together for the distinction of GISTs and leiomyomas. The sensitivity of SR alone for diagnosing GIST is higher than that of Gc alone or the combination of both methods. Although SR alone does not diagnose GIST, it can be used as an auxiliary method in biopsy and follow-up decisions. How to cite this article: Erdem RE, Bektas M, Ellik ZM, et al. Use of Endoscopic Ultrasound Elastography to Differentiate between Gastrointestinal Stromal Tumor and Leiomyoma Localized in the Upper Gastrointestinal Tract. Euroasian J Hepato-Gastroenterol 2024;14(1):20-23.

16.
F S Sci ; 2024 Jul 16.
Article in English | MEDLINE | ID: mdl-39025326

ABSTRACT

OBJECTIVE: To study the possible role for HMGA2 overexpression in differentiated myometrial cells and its potential to induce a stem cell-like or dedifferentiating phenotype and drive fibroid development. DESIGN: Myometrial cells were immortalized and transduced with an HMGA2 lentivirus to produce HMGA2hi cells. In vitro stem cell assays were conducted and RNA from HMGA2hi and control cells and fibroid-free myometrial (MyoN) and HMGA2 fibroid (HMGA2F) tissues were submitted for RNA-sequencing. SETTING: University research laboratory SUBJECTS: Women undergoing hysterectomy for symptomatic uterine fibroids or other gynecological conditions. INTERVENTION: Not applicable. MAIN OUTCOME MEASURES: In-vitro stem-like properties from myometrium cell lines. RNA-sequencing and collagen production of HMGA2 overexpressing primary leiomyoma tissue and cell lines. RESULTS: HMGA2hi cells have enhanced self-renewal capacity, decreased proliferation, and have a greater ability to differentiate into other mesenchymal cell types. HMGA2hi cells exhibit a stem cell-like signature and share transcriptomic similarities with HMGA2F. Moreover, dysregulated extracellular matrix pathways are observed in both HMGA2hi cells and HMGA2F. CONCLUSION: Our findings suggest that HMGA2 overexpression drives myometrial cells to dedifferentiate into a more plastic phenotype and provides evidence for an alternative mechanism for fibroid etiology, suggesting that fibroids may not only arise from a mutated stem cell but also from a mutated differentiated myometrial cell.

17.
Oxygen (Basel) ; 4(2): 236-252, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38957794

ABSTRACT

Uterine fibroids are the most common tumors in females affecting up to 70% of women world-wide, yet targeted therapeutic options are limited. Oxidative stress has recently surfaced as a key driver of fibroid pathogenesis and provides insights into hypoxia-induced cell transformation, extracellular matrix pathophysiology, hypoxic cell signaling cascades, and uterine biology. Hypoxia drives fibroid tumorigenesis through (1) promoting myometrial stem cell proliferation, (2) causing DNA damage propelling transformation of stem cells to tumor initiating cells, and (3) driving excess extracellular matrix (ECM) production. Common fibroid-associated DNA mutations include MED12 mutations, HMGA2 overexpression, and Fumarate hydratase loss of function. Evidence suggests an interaction between hypoxia signaling and these mutations. Fibroid development and growth are promoted by hypoxia-triggered cell signaling via various pathways including HIF-1, TGFß, and Wnt/ß-catenin. Fibroid-associated hypoxia persists due to antioxidant imbalance, ECM accumulation, and growth beyond adequate vascular supply. Current clinically available fibroid treatments do not take advantage of hypoxia-targeting therapies. Growing pre-clinical and clinical studies identify ROS inhibitors, anti-HIF-1 agents, Wnt/ß-catenin inhibition, and TGFß cascade inhibitors as agents that may reduce fibroid development and growth through targeting hypoxia.

18.
Front Pharmacol ; 15: 1373020, 2024.
Article in English | MEDLINE | ID: mdl-38974045

ABSTRACT

FH-deficient Renal Cell Carcinoma (FH-deficient RCC) are inherited tumors caused by mutations in the fumarate hydratase (FH) gene, which plays a role in the tricarboxylic acid cycle. These mutations often result in aggressive forms of renal cell carcinoma (RCC) and other tumors. Here, we present a case of FH-deficient RCC in a 43-year-old woman with a history of uterine fibroids. She exhibited a new heterozygous mutation in exon six of the FH gene (c.799_803del, c.781_796del). The patient had multiple bone metastases and small subcutaneous nodules in various areas such as the shoulders, back, and buttocks. Biopsy of a subcutaneous nodule on the right side revealed positive expression of 2-succinate-cysteine (2SC), and FH staining indicated FH expression deletion. The patient underwent treatment with a combination of erlotinib and bevacizumab, which resulted in significant efficacy with moderate side effects. This treatment combination may be recommended as a standard regimen. This case underscores the importance of genetic testing in patients with advanced renal cancer to enhance diagnostic accuracy. Furthermore, it provides insights into potential treatment approaches for FH-deficient RCC.

19.
J Clin Med ; 13(14)2024 Jul 19.
Article in English | MEDLINE | ID: mdl-39064250

ABSTRACT

This case report details the surgical treatment of a rare enlarged cervical leiomyoma with uterine prolapse in a 48-year-old woman. She presented to Konyang University Hospital with a palpable vaginal mass, lower abdominal pain, and urinary incontinence. Despite being nulliparous, she had severe chronic constipation due to schizophrenia medication and lived in a health care facility separated from her family. Pelvic examination revealed stage 3 uterine prolapse with a large necrotic cervical leiomyoma. A robot-assisted vaginal hysterectomy followed by sacrocolpopexy was performed using the Da Vinci Xi Surgical System. Histopathology confirmed cervical leiomyoma with squamous metaplasia. At a three-month follow-up, there were no complications, pelvic anatomy was restored, and urinary incontinence improved. Although the patient had a systemic infection due to the necrotic cervical leiomyoma, raising concerns about the increased risk of infection associated with mesh use, she was high-risk for pelvic organ prolapse (POP) recurrence due to her medical history and living situation. Therefore, she underwent concurrent surgeries with pre- and postoperative antibiotic treatment, and recovered without complications. Given that the risk of developing POP increases after a hysterectomy, in high-risk patients, as demonstrated in this case, the concurrent surgical correction of POP may be an effective strategy.

20.
Cureus ; 16(5): e61310, 2024 May.
Article in English | MEDLINE | ID: mdl-38983791

ABSTRACT

Bladder leiomyoma is a rare condition in pediatric and adolescent age groups, accounting for less than 1% of all bladder tumors, presenting a diverse array of histologic types and prevalence. Furthermore, bladder leiomyoma's prevalence is even more seldom with only five reported cases till the present day. Common presentation depends on the localisation and the affected layer in the bladder, urinary outlet or ureteral obstruction, irritative voiding symptoms, pelvic pain, and hematuria are the most common presentations of this condition. Diagnostic, treatment, and follow-up protocols in this entity are not well-established due to their rare occurrence in this age group. After complete surgical excision, the prognosis is excellent and the risk of recurrence is reported to be very low. Up to the present day, no instances of malignant transformation or metastasis have been documented in the literature. This case report aims to enhance current knowledge of the radiological, pathological, and clinical features of bladder leiomyoma in a 15-year-old female patient. The main complaint was lower urinary tract symptoms. An incidental solid bladder mass was discovered during the evaluation with ultrasound and magnetic resonance imaging (MRI). Afterwards, cystoscopy confirmed a 5-centimeter solid mass at the right wall of the bladder, and transurethral piecemeal resection was performed. The bladder mass was found to be intramural, and complete endoscopic resection was considered safe and efficient during the surgery. No complications or recurrence occurred in the postoperative setting.

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