RESUMEN
Diffuse oesophageal leiomyomatosis is a rare benign disease in the paediatric population. This report highlights a recent clinical case, together with a narrative review of current world literature.An early middle childhood girl with recurrent lower respiratory tract infections for 2 years was noted to have a retrocardiac lesion on chest X-ray, later confirmed to be an oesophageal mass on CT imaging. She underwent an Ivor-Lewis oesophagogastrectomy and a Heineke-Mikulicz pyloroplasty. Pathology examination revealed type I diffuse oesophageal leiomyomatosis. Alport syndrome was later confirmed following an episode of postoperative haematuria, which was corroborated by electron microscopy examination following renal biopsy.With an oesophageal mass lesion and Alport syndrome, oesophageal leiomyomatosis should be suspected in any patient with a clinical history of dysphagia and/or respiratory symptoms. Endoscopic ultrasound-guided tissue biopsy is valuable for diagnosis of all suspected lesions. Surgical resection is mandatory to effect cure.
Asunto(s)
Neoplasias Esofágicas , Leiomiomatosis , Nefritis Hereditaria , Niño , Femenino , Humanos , Neoplasias Esofágicas/patología , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/cirugía , Esofagectomía , Leiomiomatosis/diagnóstico , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Nefritis Hereditaria/complicaciones , Nefritis Hereditaria/diagnóstico , Tomografía Computarizada por Rayos XRESUMEN
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision.
Asunto(s)
Fumarato Hidratasa , Leiomiomatosis , Leiomiosarcoma , Síndromes Neoplásicos Hereditarios , Neoplasias Cutáneas , Neoplasias Uterinas , Humanos , Leiomiomatosis/genética , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Leiomiomatosis/diagnóstico , Masculino , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Leiomiosarcoma/genética , Leiomiosarcoma/diagnóstico , Leiomiosarcoma/cirugía , Leiomiosarcoma/patología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/cirugía , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Adulto , Fumarato Hidratasa/genética , Nefrectomía , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugíaRESUMEN
BACKGROUND: To report the diagnosis and treatment of a rare disease of intravenous leiomyomatosis (IVL) originating from the uterus, growing in the inferior vena cava (IVC) and extending into the right atrium (RA) associated with a pelvic arteriovenous fistula (AVF). This is the first reported case of IVL in the IVC and RA with pulmonary benign metastasizing leiomyoma (PBML) secondary to a pelvic AVF despite the use of GnRH agonists in a nonmenopausal woman. CASE PRESENTATION: The patient was a 50-year-old premenopausal woman with a history of surgical resection for and antiestrogen conservative drug for pulmonary benign metastasizing leiomyoma (PBML) 5 years. The patient nevertheless developed IVL in the IVC, internal iliac vein and RA accompanied by AVF. Vaginal ultrasound combined with echocardiography and computerized tomographic venography imaging assists in the diagnosis of IVL combined with AVF, with histopathology and immunohistochemistry ultimately confirming the diagnosis. The patient ultimately was performed with a combination of hysterectomy, bilateral adnexectomy, and resection of tumors in the IVC and RA without cardiopulmonary bypass and sternotomy. CONCLUSION: BML may be difficult to control with incomplete removal of the uterus and ovaries even with the use of antiestrogenic medications, and medically induced AVF resulting from fibroid surgery may accelerate this process and the development of IVL.
Asunto(s)
Fístula Arteriovenosa , Atrios Cardíacos , Leiomiomatosis , Neoplasias Pulmonares , Neoplasias Uterinas , Neoplasias Vasculares , Vena Cava Inferior , Humanos , Femenino , Vena Cava Inferior/patología , Vena Cava Inferior/cirugía , Vena Cava Inferior/diagnóstico por imagen , Persona de Mediana Edad , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugía , Fístula Arteriovenosa/cirugía , Fístula Arteriovenosa/etiología , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/patología , Atrios Cardíacos/patología , Atrios Cardíacos/cirugía , Atrios Cardíacos/diagnóstico por imagen , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Leiomiomatosis/diagnóstico por imagen , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/patología , Neoplasias Vasculares/patología , Neoplasias Vasculares/cirugía , Neoplasias Vasculares/diagnóstico por imagen , Neoplasias Cardíacas/secundario , Neoplasias Cardíacas/patología , Neoplasias Cardíacas/cirugía , Neoplasias Cardíacas/complicaciones , Resultado del Tratamiento , Histerectomía , Vena Ilíaca/patología , Vena Ilíaca/diagnóstico por imagenRESUMEN
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this study, we described a case of aggressive HLRCC in a 33-year-old female who exhibited a novel heterozygous germline insertion mutation in exon 8 of the FH gene (c.1126 C > T; p.Q376*). The patient underwent laparoscopic resection of the right kidney, but metastases appeared within 3 months after surgery. Histological staining of the resected tumor revealed high expression levels of programmed cell death-ligand 1 (PD-L1). Therefore, the patient was treated with immunotherapy. The patient achieved a partial response to immunotherapy, and the treatment of metastatic lesions has continued to improve. A thorough literature review pinpointed 76 historical cases of HLRCC-RCC that had undergone immunotherapy. From this pool, 46 patients were selected for this study to scrutinize the association between mutations in the FH gene and the effectiveness of immunotherapy. Our results indicate that immunotherapy could significantly improve the overall survival (OS) of patients with HLRCC-RCC. However, no influence of different mutations in the FH germline gene on the therapeutic efficacy of immunotherapy was observed. Therefore, our study suggested that immunotherapy was an effective therapeutic option for patients with HLRCC regardless of the type of FH germline mutation.
Asunto(s)
Fumarato Hidratasa , Inmunoterapia , Leiomiomatosis , Síndromes Neoplásicos Hereditarios , Neoplasias Cutáneas , Neoplasias Uterinas , Humanos , Femenino , Leiomiomatosis/genética , Leiomiomatosis/patología , Leiomiomatosis/terapia , Fumarato Hidratasa/genética , Adulto , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/terapia , Síndromes Neoplásicos Hereditarios/complicaciones , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Neoplasias Uterinas/terapia , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapia , Mutación de Línea Germinal , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Renales/terapia , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/terapiaRESUMEN
Disseminated peritoneal leiomyomatosis (DPL) is a rare and benign clinical entity. It is also known as leiomyomatosis peritonealis disseminata (LPD). Here, we report and discuss a case of a primiparous woman in her early 40s who presented with heavy, prolonged, painful menses and heaviness in her lower abdomen. She underwent a laparoscopic myomectomy for a fibroid uterus, 12 months ago for similar complaints. On workup, she was diagnosed with DPL. We performed a total abdominal hysterectomy with bilateral salpingectomy, low anterior resection with stapled colorectal anastomosis and excision of peritoneal tumour deposits in consortium with the gastrosurgery team. Her postoperative period was uneventful, and the patient was discharged on postop day 6. Her histopathology report was consistent with leiomyoma; the follow-up period was uneventful.
Asunto(s)
Histerectomía , Neoplasias Peritoneales , Humanos , Femenino , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/cirugía , Neoplasias Peritoneales/patología , Adulto , Leiomioma/cirugía , Leiomioma/diagnóstico , Leiomioma/patología , Leiomiomatosis/cirugía , Leiomiomatosis/patología , Leiomiomatosis/diagnóstico , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patología , Diagnóstico Diferencial , Miomectomía Uterina , SalpingectomíaRESUMEN
Reed Syndrome, or hereditary leiomyomatosis and renal cell carcinoma syndrome, is a rare, autosomal dominant genetic condition that predisposes individuals to a triad of cutaneous leiomyomas, uterine leiomyomas and renal cell carcinoma. Cutaneous leiomyomas are often the first manifestation of the syndrome, occurring in 76% of patients and average 26 in number. We present a case of a 47 year old female with Reed Syndrome with an unusually extensive cutaneous burden, with a total of 361 cutaneous lesions, far above the average reported number of 26. Due to the extent of her cutaneous burden, painful nature of the lesions and failure to respond to standard therapies, she was referred for fully ablative Erbium:Yag laser resurfacing therapy. The use of fully ablative Erbium:YAG laser resurfacing therapy for treatment of cutaneous leiomyomas has not been reported in the literature to date. One year following laser therapy, the treatment area not only began to repigment, but there was also no evidence of cutaneous leiomyomas recurrence or associated pain. Given the effectiveness of this unique therapy, fully ablative Erbium:YAG laser resurfacing should be kept in mind as a treatment option for both cosmetic and symptomatic cutaneous leiomyomas.
Asunto(s)
Láseres de Estado Sólido , Leiomiomatosis , Síndromes Neoplásicos Hereditarios , Neoplasias Cutáneas , Humanos , Femenino , Láseres de Estado Sólido/uso terapéutico , Persona de Mediana Edad , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/radioterapia , Síndromes Neoplásicos Hereditarios/cirugía , Leiomiomatosis/cirugía , Leiomiomatosis/radioterapia , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/radioterapia , Terapia por Luz de Baja Intensidad/métodosRESUMEN
Renal cell carcinoma (RCC) accounts for 2% of all cancer cases worldwide, and majority are sporadic. The latest World Health Organization (WHO) classification of renal cell tumors (fifth edition, 2022) has molecularly defined renal tumor entities, which includes fumarate hydratase (FH)-deficient RCC. FH-deficient RCC is an aggressive carcinoma caused by pathogenic alterations in FH gene, seen in 15% of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) syndrome. These tumors occur more frequently at a younger age and present at an advanced stage, carrying a dismal prognosis. We report a series of 10 cases of FH-deficient RCC. The mean age was 49.8 years, and all cases presented in advanced stages (III and IV). Morphologically, the cases had varied architectural patterns with characteristic eosinophilic macronucleoli and perinucleolar halo. On immunohistochemistry (IHC), all showed diffuse nucleo-cytoplasmic expression of S-(2-succino)-cysteine (2-SC), with loss of FH in seven cases. FH-deficient RCCs are aggressive neoplasms and can be diagnosed using specific IHC markers (FH and 2-SC). These patients should undergo germline testing for FH gene mutation, genetic counseling, and surveillance of family members.
Asunto(s)
Carcinoma de Células Renales , Fumarato Hidratasa , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Fumarato Hidratasa/deficiencia , Fumarato Hidratasa/genética , Persona de Mediana Edad , Femenino , Masculino , Adulto , Neoplasias Renales/genética , Neoplasias Renales/patología , Inmunohistoquímica , Anciano , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/patología , Mutación de Línea Germinal , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/deficiencia , Cisteína/análogos & derivados , Neoplasias Cutáneas , Neoplasias Uterinas , LeiomiomatosisAsunto(s)
Humanos , Masculino , Anciano , Pacientes Internos , Examen Físico , Neumatosis Cistoide Intestinal , Hallazgos Incidentales , Colonoscopía , LeiomiomatosisRESUMEN
Introducción: La leiomiomatosis peritoneal diseminada (LPD), se trata de una enfermedad benigna, que se define por la presencia de múltiples nódulos diseminados en el peritoneo de diferentes tamaños compuestos por haces de células de músculo liso. Se postulan varias teorías sobre su origen relacionadas con el estímulo hormonal, la susceptibilidad genética y la iatrogenia tras cirugías como las miomectomías por vía laparoscópica. Hallazgos clínicos: Las pacientes suelen presentar molestias abdominales de diversa índole, incluso puede cursar de forma asintomática siendo un hallazgo casual en pruebas de imagen. Diagnósticos principales: En el diagnóstico diferencial se suelen incluir la carcinomatosis, la endometriosis, la endosalpingiosis, los tumores del tracto gastrointestinal o el leiomiosarcoma. Intervenciones terapéuticas: No hay suficiente evidencia acerca de cuál es el mejor abordaje, algunos optan por manejo expectante o tratamientos médicos y otros abogan por un manejo quirúrgico más radical. Dentro de los tratamientos médicos, uno de los más usados son los agonistas de la GnRH, también se han utilizado con buenos resultados inhibidores de la aromatasa y los moduladores selectivos de los receptores de progesterona como el acetato de ulipristal. Resultados: En este caso presentamos una paciente con LPD con 15 años de seguimiento en nuestro hospital, sin evidencia de malignización. Conclusión: Conociendo la naturaleza generalmente benigna de esta enfermedad, es necesario optar por el abordaje menos invasivo posible. Se desconoce la evolución a largo plazo de esta enfermedad, pues la mayoría de casos publicados no tienen suficiente tiempo de seguimiento.
Introduction: Disseminated peritoneal leiomyomatosis (DPL) is a benign pathology, defined by the presence of multiple disseminated nodules in the peritoneum of different sizes composed of bundles of smooth muscle cells. Several theories are postulated about its origin related to hormonal stimulus, genetic susceptibility and iatrogenesis after surgeries such as laparocopic myomectomies. Clinical findings: Patients usually present with abdominal discomfort of various kinds, and it may even be asymptomatic, being an incidental finding on imaging tests. Main diagnoses: The differential diagnosis usually includes carcinomatosis, endometriosis, endosalpingiosis, tumours of the gastrointestinal tract or leiomyosarcoma. Therapeutic interventions: There is insufficient evidence about the best approach, with some advocating expectant management or medical treatment and others advocating more radical surgical management. Among medical treatments, one of the most widely used are GnRH agonists, aromatase inhibitors and selective progesterone receptor modulators such as ulipristal acetate have also been used with good results. Results: In this case we present a patient with LPD with 15 years of follow-up in our hospital, with no evidence of malignancy. Conclusion: Knowing the generally benign nature of this disease, it is necessary to opt for the least invasive approach possible. The long-term evolution of this disease is unknown, as most published cases do not have sufficient follow-up time.(AU)
Asunto(s)
Humanos , Femenino , Diagnóstico Diferencial , Leiomiomatosis/diagnóstico , Leiomiomatosis/tratamiento farmacológico , Neoplasias , Ginecología , Enfermedades de los Genitales FemeninosRESUMEN
Leiomyoma is the most prevalent benign tumor of the female reproductive system. Benign metastasizing leiomyoma (BML) is a rare phenomenon that presents at distant sites, typically the lungs, exhibiting histopathological features similar to the primary uterine tumor in the absence of malignancy features in both. Fumarate hydratase-deficient uterine leiomyoma (FH-d UL) is an uncommon subtype among uterine smooth muscle tumors (0.5-2%), showing distinctive histomorphology and FH inactivation. The majority of FH-d ULs are sporadic, caused by somatic FH inactivation, while a minority of cases occur in the context of the hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome caused by germline FH inactivation. Metastasizing FH-d UL has not been well documented and might be under-reported. Here, we present two cases (21- and 34-year-old females) who presented with metastasizing FH-d UL after myomectomy/hysterectomy with histologically proven multiple lung metastases in both, in addition to multi-organ involvement in one case (cervical-thoracic lymph nodes, left kidney, perihepatic region, left zygomatic bone, and soft tissues). Pathological examination confirmed FH-d leiomyomas in the primary/recurrent uterine tumors, multiple lung lesions, and a renal mass. The minimal criteria for diagnosis of leiomyosarcoma were not fulfilled. Genetic testing revealed germline pathogenic FH variants in both cases (c.1256C > T; p.Ser419Leu in Case 1 and c.425A > G; p.Gln142Arg in Case 2). These novel cases highlight a rare but possibly under-recognized presentation of FH-d BML. Our study suggests that FH-d BML cases might be enriched for the HLRCC syndrome.
Asunto(s)
Fumarato Hidratasa , Leiomioma , Neoplasias Pulmonares , Neoplasias Uterinas , Humanos , Femenino , Neoplasias Uterinas/patología , Neoplasias Uterinas/genética , Fumarato Hidratasa/deficiencia , Fumarato Hidratasa/genética , Adulto , Leiomioma/patología , Leiomioma/genética , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/genética , Adulto Joven , Leiomiomatosis/patología , Leiomiomatosis/genética , Miomectomía Uterina , HisterectomíaRESUMEN
Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a pathology-based atypical uterine leiomyoma diagnosis critical. However, the prevalence of germline pathogenic/likely PVs in FH among atypical uterine leiomyomata cases is unknown. To better understand FH germline PV prevalence and current patterns of genetic counseling and germline genetic testing, we undertook a retrospective review of atypical uterine leiomyomata cases at a single large center. We compared clinical characteristics between the FH PV, FH wild-type (WT), and unknown genetic testing cohorts. Of the 144 cases with atypical uterine leiomyomata with evaluable clinical data, only 49 (34%) had documented genetic test results, and 12 (8.3%) had a germline FH PV. There were 48 IHC-defined FH-deficient cases, of which 41 (85%) had FH testing and nine had a germline FH PV, representing 22% of the tested cohort and 18.8% of the FH-deficient cohort. Germline FH PVs were present in 8.3% of evaluable patients, representing 24.5% of the cohort that completed genetic testing. These data highlight the disconnect between pathology and genetic counseling, and help to refine risk estimates that can be used when counseling patients with atypical uterine leiomyomata. PREVENTION RELEVANCE: Women diagnosed with fumarate hydratase (FH)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of FH-deficient uterine leiomyomata in the absence of germline FH pathogenic/likely pathogenic variants is needed.
Asunto(s)
Fumarato Hidratasa , Pruebas Genéticas , Mutación de Línea Germinal , Leiomioma , Neoplasias Uterinas , Humanos , Femenino , Fumarato Hidratasa/genética , Fumarato Hidratasa/deficiencia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Persona de Mediana Edad , Estudios Retrospectivos , Adulto , Leiomioma/genética , Leiomioma/patología , Leiomioma/diagnóstico , Predisposición Genética a la Enfermedad , Asesoramiento Genético , Leiomiomatosis/genética , Leiomiomatosis/patología , Leiomiomatosis/diagnósticoRESUMEN
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (FH) gene predispose to HLRCC. Identifying germline pathogenic FH variants enables lifetime renal cancer screening and genetic testing for family members. In this report, we present a FH missense variant (c.1039T>C (p.S347P)), initially classified as a variant of uncertain significance. Clinical assessment, histopathological findings, molecular genetic studies, and enzymatic activity studies support the re-classification of the FH c.1039T>C variant to "pathogenic" based on ACMG/AMP criteria. Further insights into pathological recognition of FH-deficient renal cancer are discussed and should be recognized. This study has shown how (a) detailed multi-disciplinary analyses of a single variant can reclassify rare missense variants in FH and (b) careful pathological review of renal cancers is obligatory when HLRCC is suspected.
Asunto(s)
Fumarato Hidratasa , Leiomiomatosis , Mutación Missense , Síndromes Neoplásicos Hereditarios , Neoplasias Cutáneas , Neoplasias Uterinas , Humanos , Fumarato Hidratasa/genética , Leiomiomatosis/genética , Leiomiomatosis/patología , Femenino , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Neoplasias Uterinas/genética , Neoplasias Uterinas/patología , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/patología , Neoplasias Renales/genética , Neoplasias Renales/patología , Linaje , Mutación de Línea Germinal , Masculino , Adulto , Predisposición Genética a la Enfermedad , Persona de Mediana EdadRESUMEN
Uterine leiomyoma invading internal iliac vein and consequently disseminating into the right atrium is an extremely rare condition, and surgical strategy is controversial. Here, we reported a specific case with successful surgical resection through one-stage total hysterectomy, bilateral oophorectomy, and the intracardiovascular lesion. This procedure would be an optimal choice for uterine leiomyoma invading inferior vena cava and spreading to right atrium.
Asunto(s)
Leiomiomatosis , Femenino , Humanos , Leiomiomatosis/complicaciones , Leiomiomatosis/diagnóstico por imagen , Leiomiomatosis/cirugía , Histerectomía , Atrios Cardíacos/cirugía , Enfermedades Raras , SíncopeAsunto(s)
Leiomiomatosis , Neoplasias Vasculares , Vena Cava Inferior , Humanos , Vena Cava Inferior/patología , Vena Cava Inferior/diagnóstico por imagen , Leiomiomatosis/patología , Leiomiomatosis/cirugía , Leiomiomatosis/diagnóstico por imagen , Femenino , Neoplasias Vasculares/cirugía , Neoplasias Vasculares/patología , Neoplasias Vasculares/diagnóstico por imagen , Persona de Mediana Edad , AdultoRESUMEN
OBJECTIVE: To analyse the risk factors for post-operative recurrence or progression of intravenous leiomyomatosis and explore the impact of different treatment strategies on patient prognosis. METHODS: Patients with intravenous leiomyomatosis who underwent surgery from January 2011 to December 2020 and who were followed for ≥3 months were included. The primary endpoint was recurrence (for patients with complete resection) or progression (for patients with incomplete resection). Kaplan-Meier survival analysis was used to analyse the factors affecting recurrence. RESULTS: A total of 114 patients were included. The median age was 45 years old (range 24-58). The tumors were confined to the uterus and para-uterine vessels in 48 cases (42.1%), while in 66 cases (57.9%) it involved large vessels (iliac vein or genital vein and/or proximal large veins). The median follow-up time was 24 months (range 3-132). Twenty-nine patients (25.4%) had recurrence or progression. The median recurrence or progression time was 16 months (range 3-60). Incomplete tumor resection (p=0.019), involvement of the iliac vein or genital vein (p=0.042), involvement of the inferior vena cava (p=0.025), and size of the pelvic tumor ≥15 cm (p=0.034) were risk factors for recurrence and progression. For intravenous leiomyomatosis confined to the uterus or para-uterine vessels, no post-operative recurrence after hysterectomy and bilateral oophorectomy occurred in this cohort. Compared with hysterectomy and bilateral oophorectomy, the risk of recurrence after tumorectomy (with the uterus and ovaries retained) was significantly greater (p=0.009), while the risk of recurrence after hysterectomy was not significantly increased (p=0.058). For intravenous leiomyomatosis involving the iliac vein/genital vein and the proximal veins, post-operative aromatase inhibitor treatment (p=0.89) and two-stage surgery (p=0.86) were not related to recurrence in patients with complete tumor resection. CONCLUSION: Incomplete tumor resection, extent of tumor lesions and size of the pelvic tumor were risk factors for post-operative recurrence and progression of intravenous leiomyomatosis.
Asunto(s)
Progresión de la Enfermedad , Leiomiomatosis , Recurrencia Local de Neoplasia , Neoplasias Uterinas , Humanos , Femenino , Persona de Mediana Edad , Adulto , Leiomiomatosis/cirugía , Leiomiomatosis/patología , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Factores de Riesgo , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/patología , Estudios Retrospectivos , Adulto Joven , Neoplasias Vasculares/patología , Neoplasias Vasculares/cirugíaRESUMEN
BACKGROUND: Intravenous leiomyomatosis (IVL), pulmonary benign metastatic leiomyomatosis (PBML), and leiomyomatosis peritonealis disseminata (LPD) are leiomyomas with special growth patterns and high postoperative recurrence rates. We report the safety and efficacy of a pilot study of sirolimus in the treatment of recurrent IVL, PBML, and recurrent LPD. METHODS: This was a pilot study to evaluate the safety and efficacy of sirolimus in the treatment of leiomyomatosis (ClinicalTrials.gov identifier NCT03500367) conducted in China. Patients received oral sirolimus 2 mg once a day for a maximum of 60 months or until disease progression, intolerable toxicity, withdrawal of consent, or investigator decision to stop. The primary end point of this study was the objective response rate. Secondary end points included safety and tolerability, disease control rate, and progression-free survival. RESULTS: A total of 15 patients with leiomyomatosis were included in the study, including five with recurrent IVL, eight with PBML and two with recurrent LPD. The median follow-up time was 15 months (range 6-54 months), nine patients (60%) had treatment-related adverse events (including all levels), and two patients had treatment-related grade 3 or 4 adverse events. The objective response rate was 20.0% (95% CI, 7.1-45.2%), and the disease control rate was 86.7% (95% CI, 62.1-96.3%). Partial response was achieved in three patients. The median response time in the three partial response patients was 33 months (range 29-36 months), and the sustained remission time of these three patients reached 0, 18, and 25 months, respectively. CONCLUSIONS: Sirolimus was safe and effective in the treatment of recurrent IVL, PBML, and recurrent LPD. TRIAL REGISTRATION: ClinicalTrials.gov identifier NCT03500367. Registered on 18 April 2018.
Asunto(s)
Leiomiomatosis , Neoplasias Peritoneales , Humanos , Progresión de la Enfermedad , Leiomiomatosis/tratamiento farmacológico , Leiomiomatosis/complicaciones , Leiomiomatosis/patología , Neoplasias Peritoneales/complicaciones , Neoplasias Peritoneales/patología , Neoplasias Peritoneales/cirugía , Proyectos Piloto , Sirolimus/efectos adversosRESUMEN
RATIONALE: Cellular uterine leiomyomas (CL) represent the prevailing subtype among uterine leiomyomas. In this study, we report a case of recurrent peritoneal disseminated uterine fibroids 2 years after single-port laparoscopic gasless myomectomy. This article endeavors to examine the potential limitations of the aforementioned surgical procedure and outline the distinguishing features of recurrent cases with primary postoperative pathology as CL. Additionally, it aims to provide a summary of previous retrospective studies on CL and propose the existence of immunohistochemical molecules that may serve as predictors for the postoperative recurrence of cellular uterine fibroids. The ultimate objective is to enhance clinicians' comprehension of the disease. PATIENT CONCERNS: Two years ago, the patient underwent a single-port gasless laparoscopic myomectomy for uterine fibroids. Gynecological color Doppler ultrasound conducted 3 months ago revealed recurrence of uterine fibroids, and the patient experienced abdominal distension, mild urinary frequency, and constipation for the past month. DIAGNOSES: After the second surgical procedure, a comprehensive pathological examination and immunohistochemical analysis of both the uterine mass and metastatic lesions revealed that the definitive diagnosis was CLs. INTERVENTIONS: The patient underwent the total hysterectomy, bilateral salpingectomy, pelvic adhesiolysis, omental mass resection, mesenteric mass resection, and pelvic peritoneal mass resection. All specimens were sent for rapid frozen examination and showed to be leiomyomas. OUTCOMES: The patient was discharged from the hospital on the 10th day after the operation. At the date of writing the article, the patient had no recurrence for 1 year and 5 months. LESSONS: The single-port gasless approach did not achieve the desired reduction in fibroid recurrence, as anticipated by the surgeon. The act of pulling the tumor towards the abdominal incision for resection, on the contrary, may serve as an iatrogenic factor contributing to postoperative recurrence of CL into peritoneal dissemination leiomyomatosis. The single-port gasless assisted bag may be a more suitable option for myomectomy. The utmost effort should be made to prevent the potential recurrence of myoma caused by iatrogenic factors.
Asunto(s)
Laparoscopía , Leiomiomatosis , Miomectomía Uterina , Neoplasias Uterinas , Femenino , Humanos , Miomectomía Uterina/métodos , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/patología , Útero/patología , Leiomiomatosis/cirugía , Enfermedad Iatrogénica , Laparoscopía/métodosRESUMEN
Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial.