Fumarate hydratase deficient uterine leiomyoma: a clinicopathological and molecular analysis of 80 cases / 中华病理学杂志

Objective: To investigate the clinicopathologic and molecular characteristics of fumarate hydratase (FH) deficient uterine leiomyoma. Methods: Eighty cases of FH deficient uterine leiomyoma were diagnosed from April 2018 to September 2022 in Department of Pathology, Peking University Third Hospital. Sanger sequencing of FH gene exons (exon 1-10) were performed on tumor tissues and matched non-tumor tissues/peripheral blood for all cases. FH immunohistochemistry were performed in 74 cases; S-(2-succino)-cysteine (2SC) were also detected by immunohistochemistry in five cases. Results: Patients' age ranged from 18 to 54 (36.0±7.5) years, with more than 60% exhibiting clinical symptoms of multiple and large leiomyomas (the median diameter was 70 mm). More than four histologic features, including staghorn vasculature, alveolar-pattern edema, bizarre nuclei, oval nuclei arranged in chains, prominent eosinophilic nucleoli with perinucleolar haloes and eosinophilic intracytoplasmic globules were observed in 98.5% (67/68) patients. The immunohistochemical sensitivity of FH and 2SC were 97.3% and 100%, respectively. Based on the Sanger sequencing results, the cases were divided into germline variant group (31 cases), somatic variant group (29 cases) and no variant group (20 cases). Sixty-nine percent (20/29) of the patients with FH germline variation had clear family history. Conclusions: Clinical features, histological morphology, FH and 2SC immunohistochemistry and Sanger sequencing have their own significance and limitations in differential diagnosis of FH deficient uterine leiomyoma. In clinical practice, the above information should be fully integrated and studied for accurate pathologic diagnosis and selection of patients with FH germline variation.

Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.@*METHODS@#Whole exome sequencing was carried out for the proband from the pedigree. Suspected FH gene variants were validated by Sanger sequencing. Clinical manifestation and histopathological examination were used to analyze the pedigree comprehensively.@*RESULTS@#The pedigree met the clinical diagnostic criteria for HLRCC syndrome. The whole exome sequencing showed that the FH gene of the proband had a heterozygous missense variant of c.1490T>C (p.F497S), which was consistent with the Sanger sequencing. The mother, daughter and son of the proband all had the heterozygous missense variant of c.1490T>C (p.F497S). According to the American Society of Medical Genetics and Genomics Classification Standards and Guidelines for Genetic Variations, c.1490T>C (p.F497S) (PM2+PP1-M+PP3+PP4) was a possible pathogenic variant. Based on our literature search, this variant was a new variant that had not been reported.@*CONCLUSION@#The FH gene missense variant of c.1490T>C (p.F497S) may be the cause of the HLRCC syndrome pedigree, which provides a basis for the genetic diagnosis and genetic counseling of the HLRCC syndrome.

Pulmonary Benign Metastasizing Leiomyoma: Case Report of Late Occurrence in Postmenopausal Patient / Leiomiomatose Benigna Metastatizante Pulmonar: Relato de um Caso com Ocorrência Tardia em Paciente Pós-menopausa / Leiomiomatosis Benigna Metastatizante Pulmonar: Reporte de un Caso con Ocurrencia Tardía en Paciente Posmenopáusica

Introduction: Pulmonary benign metastasizing leiomyoma (PBML) is a rare condition that occurs most commonly in young women of reproductive age some years after hysterectomy. The aim of this study was to report a PBML case which occurred 33 years after hysterectomy in a postmenopausal patient. Case report: A 59-year-old female diabetic patient, G2P2A0, with dyslipidemia, a non-smoker and ex-alcoholic (quit in the 90s), with pulmonary symptoms was referred to the health service. A chest computed tomography (CT) revealed multiple pulmonary nodules. A previous history of hysterectomy at 26 years of age led to a diagnostic hypothesis of PBML. The patient underwent segmentectomy of the largest nodule (measuring 1.2 x 0.9 cm) located in the left lung. Histopathology and immunohistochemistry studies confirmed the diagnosis of PBML. Conclusion: The patient is currently in good physical condition (regression of previous pulmonary symptoms) and scheduled for clinical follow-up. A new chest CT will be performed in 6 months

Introdução: A leiomiomatose benigna metastatizante pulmonar (LBMP) é uma doença rara, ocorrendo mais comumente em mulheres jovens em idade reprodutiva alguns anos após a realização de histerectomia. O objetivo deste estudo foi relatar um caso de LBMP de ocorrência tardia, 33 anos após a realização de histerectomia, em uma paciente pós-menopausa. Relato do caso: Paciente do gênero feminino, 59 anos, G2P2A0, diabética, dislipidêmica, não tabagista e ex-etilista (parou na década de 1990), foi encaminhada ao serviço médico com sintomas pulmonares, sendo realizada tomografia computadorizada (TC) de tórax que revelou múltiplos nódulos pulmonares. Havia história prévia de histerectomia aos 26 anos de idade, sendo levantada a hipótese diagnóstica de LBMP. Paciente realizou segmentectomia do maior nódulo (medindo 1,2 x 0,9 cm) localizado no pulmão esquerdo. Exame anatomopatológico e imuno-histoquímica confirmaram o diagnóstico de LBMP. Conclusão: Atualmente, a paciente se encontra em seguimento clínico e em bom estado geral (sem os sintomas pulmonares apresentados inicialmente). Será realizada uma nova TC de tórax em seis meses

Introducción: La leiomiomatosis benigna metastatizante pulmonar (LBMP) es una enfermedad rara, que ocurre con mayor frecuencia en mujeres jóvenes en edad reproductiva pocos años después de la histerectomía. El objetivo de este estudio fue reportar un caso de LBMP de inicio tardío, 33 años después de la histerectomía, en una paciente posmenopáusica. Reporte del caso: Paciente de género femenino, 59 años, G2P2A0, diabética, dislipidémica, no fumadora y exalcohólica (parado en los 90), fue remitida al servicio por cuadro pulmonar, siendo sometida a tomografía computarizada (TC) de tórax, que reveló múltiples nódulos pulmonares. Existía antecedente de histerectomía a los 26 años, planteando la hipótesis diagnóstica de LBMP. Paciente fue sometida a segmentectomía del nódulo de mayor tamaño (de 1,2 x 0,9 cm) localizado en el pulmón izquierdo. El examen patológico y la inmunohistoquímica confirmaron el diagnóstico de LBMP. Conclusión: Actualmente la paciente se encuentra en seguimiento clínico y en buen estado general (sin los síntomas pulmonares presentados inicialmente). Se realizará una nueva TC de tórax en seis meses

Hematometra y hematocervix en paciente postmenopáusica: reporte de caso / Hematometry and hematocervix in postmenopausal patient: case repor

El hematometra es la retención de sangre en el útero y comúnmente se presenta en mujeres jóvenes con anomalías mullerianas pero puede aparecer también en mujeres postmenopausicas por causas secundarias como traumas, tumores, terapia de remplazo hormonal, estenosis cervical, entre otras. En esta presentación de caso interesante se describe una mujer postmenopáusica bajo terapia de remplazo hormonal. Dicha mujer inicia con hemorragia uterina anormal por lo que se le realiza ultrasonido evidenciando hematómetra y hematocervix. Como método diagnóstico y terapéutico de la hemorragia postmenopáusica se le realiza histerectomía abdominal en la cual la patología evidencia leiomiomatosis uterina con endometrio secretor

Hematometra is the retention of blood in the uterus and commonly occurs in young women with Mullerian abnormalities but can also appear in postmenopausal women due to secondary causes such as trauma, tumors, hormone replacement therapy, cervical stenosis, among others. In this presentation an interesting case is described a postmenopausal woman under hormone replacement therapy. She said woman began with abnormal uterine bleeding, so an ultrasound was performed showing hematometer and hematocervix. As a method diagnosis and treatment of postmenopausal hemorrhage, abdominal hysterectomy is performed in which the pathology shows uterine leiomyomatosis with secretory endometrium

Cordeiro em pele de lobo: um caso clínico / Sheep in wolf's clothing: a case report / Cordero con piel de lobo: un caso clínico

Introdução: Quando um utente recorre a uma consulta médica, este já tem uma ideia pré-definida do seu problema de saúde. Esta advém da sua experiência anterior, da cultura local e da sua estrutura de apoio. Apresentação do Caso: Mulher de 48 anos, ex-fumadora. Antecedentes pessoais de excisão de leiomioma uterino há 18 anos. Recorreu à médica de família por tosse há quatro meses. Fez uma tomografia computadorizada tórax, onde se individualizavam formações nodulares dispersas, sugestivas de metastização. Referenciou-se de urgência para consulta de pneumologia, onde lhe foi pedida biópsia, a qual a doente recusou. Após breve avaliação familiar, a própria utente compreendeu que o seu medo era gerado pela sua experiência prévia de vida. A utente acabou por realizar biópsia que revelou padrão de leiomioma. Admitiu-se leiomiomatose benigna metastizante secundária à excisão de miomas uterinos. Conclusão: A "dolência" compreendida pelos utentes vai influenciar o modo como vão gerir a sua doença e a sua dolência. Na consulta existe a gestão entre os medos do doente e as incertezas diagnósticas por parte do médico. Nestes casos, o médico de família não deve assumir uma posição paternalista de decisão, mas sim capacitar os utentes para uma escolha consciente e informada.

Introduction: When a patient has a medical appointment, they already have a pre-defined idea of their health problem. This idea is influenced by their previous experience, local culture and family support. Case Description: 48-year-old female, former smoker. She reveals a personal history of uterine leiomyoma excision 18 years ago. She turns to her doctor complaining of cough for the last four months. A chest computed tomography was ordered, in which nodular formations were identified, suggestive of metastasis. An urgent referral was made to a pulmonology consultation, where a biopsy was requested, which the patient refused to perform. After a family assessment, the patient realized that her previous life experience generated her fear. The patient ended up performing the biopsy that revealed a leiomyoma pattern. The diagnosis of benign metastatic leiomyomatosis secondary to uterine fibroid excision was made. Conclusion: The "illness" understood by patients will influence how they will manage their disease and their malaise. In the consultation there is a confrontation between the patient's fears and the diagnostic uncertainties of the physician. In such cases, the family doctor should not assume a paternalistic position of decision, but should empower patients to make a conscious and informed choice

Introducción: Cuando un paciente tiene una cita médica, ya tiene una idea predefinida de su problema de salud. Esta idea está influenciada por su experiencia previa, cultura local y apoyo familiar. Presentación del caso: Mujer de 48 años, exfumadora. Ella revela una historia personal de escisión de leiomioma uterino hace 18 años. Ella recurre a su médico quejándose de tos durante los últimos cuatro meses. Se ordenó una Tomografía computarizada de tórax, en la que se identificaron formaciones nodulares, sugestivas de metástasis. Se hizo una referencia urgente a una consulta de neumología, donde se solicitó una biopsia, que el paciente se negó a realizar. Después de una evaluación familiar, la paciente se dio cuenta de que su experiencia de vida anterior generaba miedo. Se realizó el diagnóstico de leiomiomatosis benigna metastatizante secundaria a escisión de fibromas uterinos. Conclusión: La "enfermedad" entendida por los pacientes influirá en cómo manejarán su enfermedad y su malestar. En la consulta existe una confrontación entre los temores del paciente y las incertidumbres diagnósticas del médico. En tales casos, el médico de familia no debe asumir una posición paternalista de decisión, sino que debe capacitar a los pacientes para que tomen una decisión consciente e informada.

Hemopneumotórax recorrente: descrição da síndrome da endometriose torácica / Recurrent hemopneumothorax: thoracic endometriosis syndrome description

A endometriose torácica é uma forma de endometriose extrapélvica encontrada em tecidos pulmonares ou na pleura. Caracteriza- se clinicamente pela presença de pneumotórax catamenial, hemotórax catamenial, hemoptise e nódulos pulmonares. O pneumotórax catamenial é a manifestação mais frequente, sendo caracterizado pelo acúmulo recorrente de ar na cavidade torácica durante o período menstrual. Ocorre, geralmente, no hemitórax direito e possui maior incidência na faixa etária dos 30 aos 40 anos de idade. Nosso objetivo é descrever um caso de derrame pleural hemorrágico recorrente e pneumotórax espontâneo correlacionados ao período menstrual em paciente de 34 anos. (AU)

Thoracic endometriosis is a form of extrapelvic endometriosis found in pulmonary tissue or the pleura. Clinically, it is characterized by the presence of catamenial pneumothorax, catamenial hemothorax, hemoptysis, and pulmonary nodules. The most frequent clinical presentation is catamenial pneumothorax, which is typified by a recurrent collection of air in the thoracic cavity occurring in conjunction with menstrual periods. It occurs more commonly on the right side and its highest incidence is between 30 and 40 years of age. Our objective is to describe a case of recurrent hemorrhagic pleural effusion and spontaneous pneumothorax correlated to the menstrual period in a 34-year-old patient. (AU)

Leiomiomatosis peritoneal diseminada en paciente histerectomizada / Disseminated Peritoneal Leiomyomatosis in a Hysterectomized Patient

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)

Oncovascular Surgery: Essential Roles of Vascular Surgeons in Cancer Surgery

For the modern practice of cancer surgery, the concept of oncovascular surgery (OVS), defined as cancer resection with concurrent ligation or reconstruction of a major vascular structure, can be very important. OVS for advanced cancers requires specialized procedures performed by a specialized multidisciplinary team. Roles of oncovascular surgeons are summarized as: a primary surgeon in vessel-origin tumors, a rescue surgeon treating complications during cancer surgery, and a consultant surgeon as a multidisciplinary team for cancer surgery. Vascular surgeons must show leadership in cancer surgery in cases of complex advanced diseases, such as angiosarcoma, leiomyosarcoma, intravenous leiomyomatosis, retroperitoneal soft tissue sarcoma, iatrogenic injury of the major vessels during cancer surgery, pancreatic cancer with vascular invasion, extremity soft tissue sarcoma, melanoma and others.

Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic syndrome resulting from germline mutations in fumarate hydratase. The combination of bevacizumab plus erlotinib showed promising interim results for HLRCC-associated RCC. Based on these results, we analyzed the outcome of bevacizumab plus erlotinib in Korean patients with HLRCC-associated RCC. MATERIALS AND METHODS: We retrospectively reviewed the efficacy and safety of bevacizumab plus erlotinib in patients with HLRCC-associated RCC who were confirmed to have germline mutations in fumarate hydratase. The primary endpoint was the objective response rate (ORR), while the secondary endpoints were progression-free survival (PFS) and overall survival (OS). RESULT: We identified 10 patients with advanced HLRCC-associated RCC who received bevacizumab plus erlotinib. Median age at diagnosis was 41 years, and five of the patients had received the combination as first- or second-line treatments. The ORR was 50% and the median PFS and OS were 13.3 and 14.1 months, respectively. Most adverse events were predictable and manageable by conventional measures, except for one instance where a patient died of gastrointestinal bleeding. CONCLUSION: This is the first real-world outcome of the treatment of advanced HLRCC-associated RCC. Bevacizumab plus erlotinib therapy showed promising activity with moderate toxicity. We should be increasingly aware of HLRCC-associated RCC and bevacizumab plus erlotinib should be a first-line treatment for this condition, unless other promising data are published.

Correlación clínica, imagenológica e histológica en patología endometrial: experiencia en el hospital Dr. Francisco Antonio Rísquez (2006-2016) / Clinical, imaging and histological correlation in endometrial pathology: experience in the hospital Dr. Francisco Antonio Rísquez (2006-2016)

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)

Leiomiomatosis intravascular gigante con extensión a cavidades cardíacas / Giant intravascular leiomyomatosis intravascular with extension to the cardiac cavities

Resumen Se presenta el caso de inusual crecimiento intracardíaco de leiomiomatosis intravascular gigante en una mujer de 38 años, en quien durante evaluación prequirúrgica de cirugía abdominal se documentó de manera incidental una masa en cavidades cardiacas derechas. Dada su presentación infrecuente y las dificultades en el abordaje diagnóstico y terapéutico, se realiza posterior revisión de la literatura.

Abstract The case is presented of an unusual intracardiac growth of a giant intravascular leiomyomatosis in a 38 year-old woman. During a pre-surgical evaluation for abdominal surgery, the incidental finding of a mass in the right cardiac cavities was noted. Given its uncommon presentation and the difficulties in the diagnostic and therapeutic approach, a subsequent review of the literature was performed.

Aberrant uterine leiomyomas with extrauterine manifestation: intravenous leiomyomatosis and benign metastasizing leiomyomas

OBJECTIVE: Intravenous leiomyomatosis (IVL) and benign metastasizing leiomyoma (BML) are uncommon variants of benign uterine leiomyomas with extrauterine manifestations. Categorizing the extent of disease allows clinicians to delineate the clinical spectrum and the level of sophistication for complete surgical resection. METHODS: Twelve patients with IVL and BML were reviewed. They were divided into early versus late stage disease groups, and initial manifestation, clinical characteristics, laboratory values, surgical pathology, and follow up data were summarized. RESULTS: Patients were mostly pre- or peri-menopausal and parous. Patients with late stage disease were more likely to present with cardiac symptoms or abnormal findings on chest X-ray, whereas those with early stage disease presented with classical leiomyoma symptoms including heavy menstrual bleeding, increased myoma size, or lower abdominal discomfort. Tumor marker levels were within normal ranges. A trend of higher neutrophil to leukocyte ratio was observed in the late versus the early stage group (10.4 vs. 1.51, P=0.07); the platelet leukocyte ratio was statistically higher in patients with late stage IVL (0.23 vs. 0.13, P=0.04). The overall recurrence rate was 25%. No recurrence was observed in stage I or stage III IVL groups, while 50% of the stage II IVL group showed recurrence in the pelvic cavity. CONCLUSION: IVL and BML are benign myoma variants with paradoxically metastatic clinical presentation. Careful inquiry of systemic symptoms, the presence of underlying systemic inflammation, and a high index of suspicion are required for preoperative diagnosis. Furthermore, a multidisciplinary approach is necessary to improve outcomes of surgical resection.

Leiomiomatosis benigna metastásica: reporte de caso clínico / Benign intraperitoneal metastatic leiomyomatosis: a case report

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.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset

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.

Leiomiomatose benigna metastatizante: uma causa rara de nódulos pulmonares / Benign metastasizing leiomyomatosis: a rare cause of pulmonary nodules

A leiomiomatose benigna metastatizante pulmonar (LBMP) é uma doença rara e tipicamente diagnosticada em mulheres mais jovens com história pregressa de histerectomia por leiomioma uterino (LU), caracterizada pelo aparecimento de nódulos pulmonares relativamente pequenos, geralmente assintomáticos, podendo ser achados desde três meses até 20 anos após a histerectomia. Até abril de 2014, foram publicados na literatura crítica mundial apenas 167 casos. Os autores apresentam uma série de três casos de LBMP, em pacientes submetidas à histerectomia prévia e analisaram os prontuários dos pacientes afim de uma comparação dos resultados obtidos nos presentes relatos de casos em relação aos verificados na literatura critica mundial. As três pacientes femininas, realizaram histerectomia entre 20 e 35 anos de idade e posteriormente procuraram nossa assistência por terem descoberto nódulos pulmonares em exames radiográficos de rotina, a partir de 17 anos após a histerectomia. Todas foram submetidas a procedimentos cirúrgicos e diagnosticadas com a rara LBMP, que em geral possui tumores silenciosos sendo a maioria dos pacientes assintomática, geralmente detectada em exames de rotina. Os sintomas são inexistentes ou inespecíficos. A confirmação diagnóstica precisa requer técnica histológica, com os achados de fibras musculares lisas, sem sinais de malignidade e imunohistoquímica para o fenótipo do LU. O tratamento de escolha é a excisão cirúrgica para confirmação com o diagnóstico histopatológico.

Pelvic Intravenous Leiomyomatosis - Case Report / Leiomiomatose intravenosa pélvica - caso clínico

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.

Leiomioma cutáneo atípico en un paciente con leiomiomatosis cutánea y mutación de la enzima fumarato hidratasa / Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase

Se presenta un varón de 56 años con un leiomioma atípico en el contexto de una leiomiomatosis cutánea, con antecedentes familiares de miomatosis uterina y con estudio genético que revela una mutación en el gen de la enzima fumarato hidratasa, sin que hasta el momento presente ningún tipo de neoplasia maligna renal. El leiomioma atípico es un tumor poco frecuente, que usualmente ocurre de forma aislada, siendo excepcional la presentación en pacientes con leiomiomatosis cutánea. Es ampliamente conocida la relación de la mutación de la enzima fumarato hidratasa con leiomiomas mútiples, miomas uterinos y el mayor riesgo de desarrollar cáncer renal; sin embargo, el papel de esta mutación en el desarrollo de leiomiomas atípicos es por hoy imposible de esclarecer debido a los escasos casos recogidos en la literatura.

We report the case of a 56 year-old male with an atypical leiomyoma in the context of a cutaneous leiomyomatosis and a family history of uterine leiomyomatosis. The genetic study revealed a mutation in the gene for the enzyme fumarate hydratase, but he has not had any renal malignancy so far. Atypical leiomyoma is a rare tumor that usually presents as a single lesion and is exceptional in patients with cutaneous leiomyomatosis. The relation between fumarate hydratase enzyme mutations with multiple leiomyomas, uterine leiomyomatosis and an increased risk of developing kidney cancer is widely known. However, the role of these mutations in the development of atypical leiomyomas is still impossible to clarify given the few cases reported in the literature.

Uterine Intravenous Leiomyomatosis with Intracardiac Extension and Pulmonary Benign Metastases on FDG PET/CT: A Case Report

A 48-year-old woman presented with a 50-day history of irregular vaginal bleeding and lower abdominal pain. Ultrasound indicated an extremely large occupying lesion in the pelvic cavity that was highly suggestive of malignancy. Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) was performed to further assess the nature of pelvic abnormality. PET/CT images demonstrated a diffusely lobulated mass ranging from cervix up to the inferior pole of kidneys with mild FDG uptake. Simultaneously, multiple nodules in bilateral lungs and a hypodense lesion in the right ventricle were shown without FDG-avidity. Based on the imaging results, the presumptive diagnosis was uterine intravenous leiomyomatosis with intracardiac extension and pulmonary benign metastases, which was subsequently confirmed by MRI and the lesion biopsy.

Intravenous Leiomyomatosis with Extension to the Heart Associated with Disseminated Peritoneal Leiomyomatosis / 대한내과학회지

Leiomyomatosis refers to benign smooth muscle cell tumors that often arise from unusual growth patterns and include benign metastasizing leiomyoma, disseminated peritoneal leiomyomatosis, and intravenous leiomyomatosis. Intravenous leiomyomatosis is the extension of a vascular tumor into the venous channels, whereas disseminated peritoneal leiomyomatosis is characterized by multiple leiomyomas growing along the submesothelial tissues of the abdominopelvic peritoneum. It is extremely rare for intravenous leiomyomatosis and disseminated peritoneal leiomyomatosis to occur simultaneously. A 42-year-old female presented with disseminated peritoneal leiomyomatosis and intravenous leiomyomatosis extended through the inferior vena cava into the right side of the heart. The patient underwent one-stage surgery under simultaneous sternotomy and laparotomy, and radical excision of the tumor was achieved using cardiopulmonary bypass. Here we describe a case in which complete removal of a leiomyomatosis with an unusual growth pattern was successfully performed using one-stage surgery.

Surgical Treatment Strategies of Intravenous Leiomyomatosis withRight Cardiac Cavities Extension / 中国医学科学院学报

Objective To investigate the diagnosis and surgical treatment strategies of intravenous leiomyomatosis(IVL)extending through inferior vena cava into the right cardiac cavities. Methods Thirty patients of IVL extending through inferior vena cava into the right cardiac cavities were treated in Peking Union Medical College Hospital from November 2002 to January 2015.The following variables were studied: age,cardiopulmonary bypass time,deep hypothermic circulatory arrest time,origins of IVL,blood loss,duration of post-operative hospital stay,hospitalization expenses,edema of lower extremity,blood transfusion,postoperative complication,residual IVL,and re-grow or recurrence. Results Thirteen of 30 patients reported double lower limb edema. The cardiopulmonary bypass was applied in 27 cases,and the average duration of cardiopulmonary bypass was(106.9±53.7)min. Then,21 patients were treated with the deep hypothermic circulatory arrest,and the mean time was(28.2±11.6) min. The tumors originated from the genital veins in 9 cases,the iliac vein in 13 cases,and both veins in 8 cases. The average intra-operative blood loss volume was (2060.5±2012.3)ml,and 21 patients received blood transfusion. The average hospitalization time was(18.9±8.3)days and the average hospitalization expenses was (80 840.4±28 264.2)RMB yuan. While 14 patients had postoperative complications,there was no serious postoperative complication or death.All patients have shown a favorable outcome.Conclusions Tumor embolus extending through inferior vena cava into the right cardiac cavities should be suspected in patients with multiple hysteromyoma. Successful therapy for IVL with right cardiac cavities extension is dependent on reasonable surgical treatment strategies. Surgical removal of the ovaries is vital to avoid IVL re-grow or recurrence.