RESUMO
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.
Assuntos
Fumarato Hidratase , Imunoterapia , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Humanos , Feminino , Leiomiomatose/genética , Leiomiomatose/patologia , Leiomiomatose/terapia , Fumarato Hidratase/genética , Adulto , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/terapia , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Uterinas/terapia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Mutação em Linhagem Germinativa , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/terapiaRESUMO
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.
Assuntos
Histerectomia , Neoplasias Peritoneais , Humanos , Feminino , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/cirurgia , Neoplasias Peritoneais/patologia , Adulto , Leiomioma/cirurgia , Leiomioma/diagnóstico , Leiomioma/patologia , Leiomiomatose/cirurgia , Leiomiomatose/patologia , Leiomiomatose/diagnóstico , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Diagnóstico Diferencial , Miomectomia Uterina , SalpingectomiaRESUMO
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.
Assuntos
Fumarato Hidratase , Leiomiomatose , Mutação de Sentido Incorreto , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Humanos , Fumarato Hidratase/genética , Leiomiomatose/genética , Leiomiomatose/patologia , Feminino , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Renais/genética , Neoplasias Renais/patologia , Linhagem , Mutação em Linhagem Germinativa , Masculino , Adulto , Predisposição Genética para Doença , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Fumarato Hidratase , Testes Genéticos , Mutação em Linhagem Germinativa , Leiomioma , Neoplasias Uterinas , Humanos , Feminino , Fumarato Hidratase/genética , Fumarato Hidratase/deficiência , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Uterinas/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Leiomioma/genética , Leiomioma/patologia , Leiomioma/diagnóstico , Predisposição Genética para Doença , Aconselhamento Genético , Leiomiomatose/genética , Leiomiomatose/patologia , Leiomiomatose/diagnósticoRESUMO
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.
Assuntos
Fumarato Hidratase , Leiomioma , Neoplasias Pulmonares , Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/patologia , Neoplasias Uterinas/genética , Fumarato Hidratase/deficiência , Fumarato Hidratase/genética , Adulto , Leiomioma/patologia , Leiomioma/genética , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/genética , Adulto Jovem , Leiomiomatose/patologia , Leiomiomatose/genética , Miomectomia Uterina , HisterectomiaRESUMO
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.
Assuntos
Leiomiomatose , Neoplasias Peritoneais , Humanos , Progressão da Doença , Leiomiomatose/tratamento farmacológico , Leiomiomatose/complicações , Leiomiomatose/patologia , Neoplasias Peritoneais/complicações , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/cirurgia , Projetos Piloto , Sirolimo/efeitos adversosRESUMO
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.
Assuntos
Progressão da Doença , Leiomiomatose , Recidiva Local de Neoplasia , Neoplasias Uterinas , Humanos , Feminino , Pessoa de Meia-Idade , Adulto , Leiomiomatose/cirurgia , Leiomiomatose/patologia , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Fatores de Risco , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia , Estudos Retrospectivos , Adulto Jovem , Neoplasias Vasculares/patologia , Neoplasias Vasculares/cirurgiaRESUMO
BACKGROUND: To compare clinicopathologic, molecular features, and treatment outcome between fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) and type 2 papillary renal cell carcinoma (T2 pRCC). METHODS: Data of T2 pRCC patients and FH-dRCC patients with additional next-generation sequencing information were retrospectively analyzed. The cancer-specific survival (CSS) and disease-free survival (DFS) were primary endpoint. RESULTS: A combination of FH and 2-succino-cysteine (2-SC) increased the rate of negative predictive value of FH-dRCC. Compared with T2 pRCC cases, FH-dRCC cases displayed a greater prevalence in young patients, a higher frequency of radical nephrectomy. Seven FH-dRCC and two T2 pRCC cases received systemic therapy. The VEGF treatment was prescribed most frequently, with an objective response rate (ORR) of 22.2% and a disease control rate (DCR) of 30%. A combined therapy with VEGF and checkpoint inhibitor reported an ORR of 40% and a DCR of 100%. FH-dRCC cases showed a shortened CSS (P = 0.042) and DFS (P < 0.001). The genomic sequencing revealed 9 novel mutations. CONCLUSIONS: Coupled with genetic detection, immunohistochemical biomarkers (FH and 2-SC) can distinguish the aggressive FH-dRCC from T2 pRCC. Future research is awaited to illuminate the association between the novel mutations and the clinical phenotypes of FH-dRCC in the disease progression.
Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Neoplasias Cutâneas , Neoplasias Uterinas , Humanos , Feminino , Carcinoma de Células Renais/tratamento farmacológico , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/metabolismo , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/genética , Neoplasias Renais/diagnóstico , Fumarato Hidratase/genética , Fumarato Hidratase/metabolismo , Estudos Retrospectivos , Fator A de Crescimento do Endotélio Vascular , Leiomiomatose/diagnóstico , Leiomiomatose/genética , Leiomiomatose/patologia , Resultado do Tratamento , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Neoplasias Cutâneas/genéticaRESUMO
OBJECTIVES: The aim was to explore the magnetic resonance imaging (MRI) features of stage-I intravenous leiomyomatosis (IVL). MATERIALS AND METHODS: From January 2019 to January 2023, clinical, pathological, and MRI data were collected from 19 cases confirmed by surgical pathology. Two radiologists retrospectively measured the tumor sizes, T1WIs, T2WIs, and ADC values and evaluated contrast-enhanced T1WIs, DWIs, complications and parauterine infiltrations. The number of tumor cells and the total nuclear area were measured. The percentage of tumor cell area out of the total area was used as the tumor cell density. RESULTS: Nineteen patients with stage-I IVL aged 33 to 66 years (mean age: 46 ± 7.6 years) were included in this study. All 19 cases were located in the myometrium or parametrium, with a mean diameter of 11.2 ± 4.8 cm. Among these cases, 14 (73.6%) were associated with leiomyoma, and six (31.6%) involved the broad ligament. Isointensity was observed in the T1WIs of 12 cases (63.2%), while slight hypointensity was seen in five patients (26.3%). Isointensity was observed in the on T2WIs of four cases (21.1%), and iso- or slight hyperintensity was observed in 15 cases (78.9%). A significant difference was detected between the normalized T2WIs of IVL and myometrium (p < 0.001). A Pearson correlation test showed demonstrated a negative correlation between the ADC and tumor cell density values (r = - 0.946, p < 0.001). Tortuous vessels were present in 17 cases (89.5%) within or next to the lesions, and multiple winding cord-like filling defects were seen in 11 cases (57.9%) within the tortuous vessels on the T2WIs. CONCLUSION: Identifying the characteristic MRI features of stage-I IVL helped improve the diagnostic accuracy achieves for this rare tumor. Stage-I IVL often presents as a large mass accompanied by leiomyoma, and it easily invades the broad ligament. TIWI signals exhibited isointensity, and T2WI signals contained iso- or slight hyperintensity. Tortuous vessels were present within or next to the lesions, and multiple winding cord-like filling defects were observed within the tortuous vessels on the T2WIs.
Assuntos
Leiomiomatose , Doenças Vasculares , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/cirurgia , Leiomiomatose/patologia , Estudos Retrospectivos , Imageamento por Ressonância Magnética , Imagem de Difusão por Ressonância MagnéticaAssuntos
Leiomiomatose , Neoplasias Peritoneais , Humanos , Leiomiomatose/patologia , Leiomiomatose/diagnóstico , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/patologia , Feminino , Tomografia Computadorizada por Raios X , Histocitoquímica , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patologia , Radiografia Abdominal , Fígado/patologia , Fígado/diagnóstico por imagem , Pessoa de Meia-Idade , Microscopia , AdultoRESUMO
RATIONALE: Intravascular/intravenous leiomyomatosis (IVL) is a peculiar variant of uterine leiomyoma that is classified as a histologically benign smooth muscle tumor with a biological behavior similar to that of a malignant tumor. It is characterized by the proliferation of leiomyomas spreading along the uterine and extrauterine venous circulation. PATIENT CONCERNS: Herein, we present 2 cases of IVL who had completely different clinical manifestations to stress the need for constant vigilance of IVL diagnosis and the understanding of uterine leiomyoma heterogenicity. Case 1 was registered for fever without specific triggering factors, irregular menstruation and clinically diagnosed uterine diverticula, while no information about fibroids was mentioned. Case 2 was characterized by an aggressively growing abdominal mass. With a large space-occupying lesion in the right abdominopelvic cavity and no imaging evidence of involvement of the iliac vein or above vein, the patient was initially diagnosed with multiple myomata. DIAGNOSES: Both patients' diagnoses were confirmed as IVL by histopathology. To our knowledge, the mass of case 1 is the minimum IVL in the English literature. INTERVENTIONS: Subtotal hysterectomy with bilateral salpingectomy was performed on the former, while total hysterectomy with bilateral salpingectomy was performed on the latter. OUTCOMES: Both patients were comfortable, and no relapse occurred. LESSONS: Two cases in the study showed 2 different proceeding stages of the same disease and corroborated multiple pathogeneses, which have been mentioned in the available literature on IVL. Our work provides both supplement for clinical data to facilitate further research and better understanding of special types of fibroids to clinicians.
Assuntos
Leiomiomatose , Mioma , Neoplasias Uterinas , Doenças Vasculares , Feminino , Humanos , Leiomiomatose/diagnóstico , Leiomiomatose/cirurgia , Leiomiomatose/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/patologia , Recidiva Local de Neoplasia , Veia Ilíaca/patologiaRESUMO
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. Here, we aimed to establish its founder effect and characterize the associated clinical phenotype. RESULTS: Haplotype analysis confirmed that families shared a common haplotype (32/38 markers) spanning 0.61-0.82 Mb, indicating this recurrent variant was inherited from a founder ancestor. Cutaneous and uterine leiomyomatosis were diagnosed in 64.6% (64/99) and 98% (50/51) of patients, respectively, and renal cell cancer was present in 10.4% (10/96). The pathogenic FH_c.1118A > G variant is a Spanish founder mutation that originated 12-26 generations ago. We estimate that the variant may have appeared between 1370 and 1720. Individuals carrying this founder mutation had similar frequency of renal cell cancer and a higher frequency of renal cysts and leiomyomas than those in other cohorts of this syndrome. CONCLUSIONS: In the Spanish province of Alicante there is a high prevalence of HLRCC because of the founder mutation FH c.1118A > G; p.(Asn373Ser). The characterization of founder mutations provides accurate and specific information regarding their penetrance and expressivity. In individuals with suspected HLRCC from the province of Alicante, genetic testing by direct analysis of the founder FH c.1118A > G; p.(Asn373Ser) mutation may be a faster and more efficient diagnostic tool compared with complete gene sequencing.
Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Feminino , Humanos , Leiomiomatose/genética , Leiomiomatose/patologia , Neoplasias Renais/genética , Neoplasias Cutâneas/patologia , Mutação/genética , SíndromeRESUMO
La leiomiomatosis peritoneal diseminada es una entidad rara de etiología incierta, caracterizada por la proliferación de múltiples nódulos benignos en la cavidad peritoneal, formados por células musculares lisas, que pueden simular una carcinomatosis peritoneal. Es más frecuente en mujeres en edad fértil, durante el embarazo o por el uso de anticonceptivos orales. Se presenta el caso de una mujer de 40 años diagnosticada de leiomiomatosis peritoneal diseminada, sometida a una histerectomía simple por miomatosis uterina. Después de dos años del diagnóstico presenta una exacerbación de la enfermedad y se sospecha de malignización, por lo que se realiza una laparotomía exploratoria donde se observan múltiples nódulos miomatosos extendidos por epiplón, peritoneo y apéndice. Se le practica la exéresis de todos los nódulos (omentectomía, apendicectomía y anexectomía bilateral(. La biopsia confirma el diagnóstico de leiomiomatosis peritoneal diseminada. Actualmente, la paciente permanece asintomática tras 6 años de seguimiento(AU)
Disseminated peritoneal leiomyomatosis is a rare entity of uncertain etiology, characterized by the proliferation of multiple benign nodules in the peritoneal cavity. These nodules are formed by smooth muscle cells, which can simulate peritoneal carcinomatosis. It manifests predominantly in women of childbearing age, especially during pregnancy or with the use of oral contraceptives. We report here the case of a 40-year-old woman diagnosed with disseminated peritoneal leiomyomatosis, who underwent simple hysterectomy due to uterine myomatosis. Two years after the diagnosis, she presented with an exacerbation of the disease and malignancy was suspected. So exploratory laparotomy was performed. Multiple myomatous nodules were observed, extended by omentum, peritoneum and appendix. All nodules were removed -omentectomy, appendectomy and bilateral adnexectomy. Biopsy confirms the diagnosis of disseminated peritoneal leiomyomatosis. As of today, the patient remains asymptomatic after 6 years of follow-up(AU)
Assuntos
Humanos , Feminino , Adulto , Leiomiomatose/diagnóstico , Leiomiomatose/patologia , Histerectomia/métodosRESUMO
Para el estudio y diagnóstico de la patología endometrial se cuenta con el ultrasonido transvaginal y la biopsia de endometrio. Objetivo: Determinar la correlación clínica, ultrasonográfica e histológica en patología endometrial, en pacientes tratadas en el Servicio de Cirugía del Hospital Dr. Francisco Antonio Rísquez, entre 2006 y 2016. Métodos: Estudio retrospectivo, transversal. Se incluyeron las pacientes intervenidas quirúrgicamente por patologías uterinas, que contaron con información completa en la historia clínica. Se utilizó estadística descriptiva, sensibilidad, especificidad y coeficiente de correlación. Resultados: El grupo etario más afectado fue el de 41 a 50 años, con 62,73 %, el motivo de consulta más frecuente fue sangrado genital con 52 casos (47,3 %), 52 pacientes (47,3 %) presentaron sangrado menstrual abundante y 40 (36,4 %) refirieron sangrado abundante y prolongado. Ecográficamente, el diagnóstico más frecuente fue leiomiomatosis uterina (87 casos, 79,1 %). La línea endometrial estuvo entre 1,3 y 11,3 mm en 80,9 %; en 54 casos (49,1 %) la biopsia de endometrio reportó secretor sin atipia. No se observó correlación estadística entre la clínica y la biopsia de endometrio (p=0,478 Kappa=0,00). La correlación estadística entre el ultrasonido y la biopsia de endometrio fue casi perfecta (p=0,000 Kappa=0,947) y entre la biopsia preoperatoria y la definitiva fue moderada (p=0,000 Kappa 0,542). La sensibilidad del ultrasonido es de 100 % y especificidad de 90,91 %. Conclusiones: La sensibilidad y especificidad del ultrasonido respecto a la biopsia de endometrio fue elevada. La frecuencia de patología endometrial en la biopsia endometrial fue baja(AU)
For the study and diagnosis of endometrial pathology it has with transvaginal ultrasound and endometrial biopsy. Objective: To determine the correlation of clinical, ultrasound and histological endometrial pathology in patients treated in the service of surgery of the Hospital Dr. Francisco Antonio Rísquez, between 2006 and 2016. Methods: Retrospective, cross-sectional study. Included patients surgically treated by uterine pathologies, which counted with complete information in the medical record. We used descriptive statistics, sensitivity, specificity, and correlation coefficient. Results: The most affected age group was that of 41 to 50 years, in 62,73%, the reason for more frequent consultation was bleeding genital with 52 cases (47.3%), 52 patients (47.3%) they had heavy menstrual bleeding and 40 (36.4%) abundant and prolonged bleeding was referred. Ecograficamente, the most frequent diagnosis was uterine leiomyomatosis (87 cases, 794.1%). The endometrial line was between 1.3 and 11.3 mm 80.9%; in 54 cases (49.1%) the endometrial biopsy reported secretory without atypia. No statistical correlation between the clinic and the endometrial biopsy was observed (p = 0, 478 Kappa = 0, 00). The statistical correlation between ultrasound and endometrial biopsy was almost perfect (p = 0, 000 Kappa = 0, 947) and between preoperative biopsy and the final was moderate (p = 0, 0000,542 Kappa). The sensitivity of ultrasound is 100% and specificity of 90.91%. Conclusions: The sensitivity and specificity of ultrasound for endometrial biopsy was high. The frequency of endometrial pathology in endometrial biopsy was low(AU)
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Hemorragia Uterina/cirurgia , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/patologia , Ultrassonografia/instrumentação , Endométrio/patologia , Biópsia/métodos , Prontuários Médicos/estatística & dados numéricos , Estudos Retrospectivos , Leiomiomatose/patologiaRESUMO
Benign intraperitoneal metastatic leiomyomatosis is a rare benign disease that is observed when a leiomyoma is present in the peritoneal surface. Women who have undergone hysterectomy for leiomyomas are most commonly affected. Patients are usually asymptomatic at presentation, being frequently an incidental finding in imaging studies. Ultrasound and CT play an important role in the diagnosis. The lesions are histologically identical to their uterine counterparts. There are different theories about the pathogenesis of the disease, including peritoneal seeding after laparoscopic hysterectomy. Others support the hypothesis of multiple independent foci of smooth muscle proliferation. Treatment, as in uterine leiomyomatosis, is generally conservative. We report a 53-year-old hysterectomized woman with intraperitoneal leiomyomas detected in a routine physical examination as mobile abdominal masses who underwent successful laparoscopic resection.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Peritoneais/secundário , Neoplasias Uterinas/patologia , Leiomiomatose/patologia , Leiomioma/patologia , Neoplasias Peritoneais/cirurgia , Neoplasias Peritoneais/diagnóstico por imagem , Leiomiomatose/cirurgia , Leiomiomatose/diagnóstico por imagem , HisterectomiaRESUMO
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.
Assuntos
Humanos , Feminino , Adulto Jovem , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologia , Síndromes Neoplásicas Hereditárias/patologia , Leiomiomatose/patologia , Pele/patologia , Neoplasias Cutâneas/genética , Neoplasias Uterinas/genética , Biópsia , Síndromes Neoplásicas Hereditárias/genética , Imuno-Histoquímica , Tumor de Músculo Liso/patologia , Leiomiomatose/genética , Idade de Início , Fumarato Hidratase/genéticaRESUMO
Abstract Introduction Intravenous leiomyomatosis is a benign and rare condition that can result in cardiac events with fatal outcomes when left untreated. Intravenous leiomyomatosis is probably underestimated because the diagnosis is easily missed. We present a case of an intravenous leiomyomatosis without extra-pelvic involvement, with a brief review of this pathology. Case Report 46-year-old woman submitted to hysterectomy and bilateral adnexectomy because of a pelvic mass detected in ultrasound. During the surgery, intravenous leiomyomatosis diagnosis was suspected. Pathological analysis confirmed this suspicion. Further imaging exams were performed without detecting any anomalies related to this condition. The patient remained with no evidence of disease after one year of follow-up. Conclusion Intravenous leiomyomatosis is a rare condition that can lead to serious complications. Early diagnosis followed by an appropriate treatment is very important to patient outcome, and underdiagnoses can be counteracted if the gynecologist is aware of this entity.
Resumo Introdução A leiomiomatose intravenosa é uma condição benigna, rara, que pode resultar em eventos cardíacos, podendo ser fatal quando não tratada. Esta patologia está provavelmente subestimada, uma vez que facilmente não é diagnosticada. Neste artigo, apresentamos um caso de leiomiomatose intravenosa sem envolvimento extrapélvico, com uma breve revisão da patologia. Relato de Caso Mulher de 46 anos de idade, submetida a histerectomia e anexectomia bilateral após detecção ecográfica de massa pélvica. Durante a cirurgia, houve a suspeita de leiomiomatose intravenosa, e o exame anátomo-patológico confirmou o diagnóstico. A paciente foi submetida a outros exames de imagem, não sendo detectada qualquer anomalia relacionada com a patologia. Após um ano de followup, a paciente manteve-se sem evidência de doença. Conclusão A leiomiomatose intravenosa é uma condição rara que pode levar a complicações graves. O diagnóstico precoce e o tratamento adequado são muito importantes para o prognóstico da paciente, e os subdiagnósticos podem ser evitados se o ginecologista estiver ciente dessa entidade.