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.

Angioleiomioma uterino: a propósito de un caso / Uterine angioleiomyoma: report of clinical case

Resumen El angioleiomioma es un tumor benigno perivascular que raramente se localiza en el útero. Se expone el caso de un angioleiomioma de gran tamaño en una mujer de 30 años con sangrado menstrual abundante y masa abdominal palpable. La paciente fue sometida a miomectomía y diagnosticada de angioleiomioma por el estudio histológico. Ante síntomas persistentes, la angiomiomectomía o la histerectomía simple son eficaces.

Abstract Angioleiomyoma is a benign perivascular tumor that is rarely located in the uterus. This paper presents a case of a large angioleiomyoma in a 30-year-old woman with heavy menstrual bleeding and a palpable abdominal mass. The patient underwent myomectomy and was diagnosed with angioleiomyoma by histological examination. For persistent symptoms, angiomyomectomy or simple hysterectomy are effective.

Accuracy of Transvaginal Ultrasound in the Diagnosis of Intrauterine Lesions / Acurácia da ultrasonografia tranvaginal no diagnóstico de lesões intrauterinas

Abstract Objective To evaluate the accuracy of transvaginal ultrasound in the diagnosis of intrauterine lesions, using hysteroscopy as the gold standard. Methods This was a prospective observational study with 307 patients. All patients underwent hysteroscopy after a previous transvaginal ultrasound to compare the results. The hysteroscopy was performed by experienced examiners, and transvaginal ultrasounds were performed in various public and private services, which is reflective of routine healthcare practices in obstetrics and gynecology. The sensitivity, specificity, and accuracy of the transvaginal ultrasound were calculated using hysteroscopy as the gold standard. The level of agreement between the two exams was calculated using the Kappa test. Results Themean age was 56.55±12.3 years. For endometrial polyps, we observed a sensitivity of 39.8%, specificity of 72.7%, accuracy of 52.8%, and Kappa index of 0.11 (p=0.025). For fibroids, the sensitivity was 46.7%, specificity was 95.0%, accuracy was 87.9%, and Kappa index was 0.46 (p<0.001). For endometrial thickening, the sensitivity was 68.7%, specificity was 41.7%, accuracy was 47.6%, and Kappa index was 0.06 (p=0.126). For endometrial atrophy, we found a sensitivity of 6.7%, specificity of 99.3%, accuracy of 90.2%, and Kappa index of 0.10 (p=0.006). For the other findings, the sensitivity was 15.6%, specificity was 99.6%, accuracy was 87.3%, and Kappa index was 0.23 (P<0.001). Conclusion Our study demonstrated a low level of accuracy of transvaginal ultrasound for the diagnosis of endometrial lesions, when performed by a non-experienced professional. Thus, it is important to consider the use of hysteroscopy to avoid unnecessary and inappropriate treatments.

Resumo Objetivo Avaliar a acurácia do ultrassom transvaginal para o diagnóstico de lesões intrauterinas, tendo a histeroscopia como padrão de referência. Métodos Foi realizado um estudo observacional prospectivo em 307 pacientes, submetidas à histeroscopia após ultrassonografia prévia para comparação dos resultados. A histeroscopia foi realizada por duas médicas com experiência, e os exames de ultrassom foram realizados em diversas fontes, públicas ou privadas, como ocorre no cotidiano da assistência à saúde em nosso meio. Foram avaliados sensibilidade, especificidade e acurácia, tendo a histeroscopia como padrão-ouro. O nível de concordância foi avaliado pelo teste de Kappa. Resultados A idade média foi de 56,55±12,3 anos. Os resultados para pólipo endometrial foram: sensibilidade 39.8%, especificidade 72,7%, acurácia de 52,8%, e índice Kappa 0,11 (p=0,025). Para mioma, sensibilidade 46,7%, especificidade 95,0%, acurácia 87,9%, e índice Kappa 0,46 (p<0,001). Para espessamento endometrial, sensibilidade 68,7%, especificidade 41,7%, acurácia 47,6%, e índice Kappa de 0,06 (p=0,126). Para atrofia, sensibilidade 6,7%, especificidade 99,3%, acurácia 90,2%, e índice Kappa 0,10 (p=0,006). Para outros achados, sensibilidade 15,6%, especificidade 99,6%, acurácia 87,3%, e índice Kappa 0,23 (p<0,001). Conclusão Nosso estudo demonstrou baixo nível de acurácia da ultrassonografia transvaginal para o diagnóstico de lesões endometriais, quando realizada por profissional não experiente. Assim, é importante considerar o uso da histeroscopia para evitar tratamentos desnecessários e inadequados.

Malignant uterine neoplasms attended at a brazilian regional hospital: 16-years profile and time elapsed for diagnosis and treatment / Neoplasias malignas do útero atendidas em hospital regional brasileiro: Perfil em 16 Anos e tempo dispendido até diagnóstico e tratamento

Abstract Objective The present study aims to evaluate the profile of endometrial carcinomas and uterine sarcomas attended in a Brazilian cancer center in the period from 2001 to 2016 and to analyze the impact of time elapsed fromsymptoms to diagnoses or treatment in cancer stage and survival. Methods This observational study with 1,190 cases evaluated the year of diagnosis, age-group, cancer stage and histological type. A subgroup of 185 women with endometrioid histology attended in the period from 2012 to 2017 was selected to assess information about initial symptoms, diagnosticmethods, overall survival, and to evaluate the influence of the time elapsed from symptoms to diagnosis and treatment on staging and survival. The statistics used were descriptive, trend test, and the Kaplan- Meier method, with p-values < 0.05 for significance. Results A total of 1,068 (89.7%) carcinomas (77.2% endometrioid and 22.8% nonendometrioid) and 122 (10.3%) sarcomas were analyzed, with an increasing trend in the period (p < 0.05). Histologies of non-endometrioid carcinomas, G3 endometrioid, and carcinosarcomas constituted 30% of the cases. Non-endometrioid carcinomas and sarcomas weremore frequently diagnosed in patients over 70 years of age and those on stage IV (p < 0.05). The endometrioid subgroup with 185 women reported 92% of abnormal uterine bleeding and 43% diagnosis after curettage. The average time elapsed between symptoms to diagnosis was 244 days, and between symptoms to treatment was 376 days, all without association with staging (p = 0.976) and survival (p = 0.160). Only 12% of the patients started treatment up to 60 days after diagnosis. Conclusion The number of uterine carcinoma and sarcoma cases increased over the period of 2001 to 2016. Aggressive histology comprised 30% of the patients and, for endometrioid carcinomas, the time elapsed between symptoms and diagnosis or treatment was long, although without association with staging or survival.

Resumo Objetivo O presente estudo avaliou o perfil dos carcinomas endometriais e sarcomas uterinos atendidos em um centro brasileiro de câncer no período de 2001 a 2016, e avaliou o impacto do tempo decorrido entre os sintomas até o diagnóstico ou tratamento no estadiamento e sobrevida pelo câncer. Métodos Estudo observacional com 1.190 casos que analisou o ano do diagnóstico, faixa etária, estágio e tipo histológico do câncer. Um subgrupo de 185 mulheres com histologia endometrioide e atendidas no período de 2012 a 2017 foi selecionado para avaliar informações sobre sintomas iniciais, métodos de diagnóstico, sobrevida global e para analisar a relação entre o tempo decorrido a partir dos sintomas até o diagnóstico e tratamento no estadiamento e sobrevida. Foram realizadas análises estatísticas descritiva, de tendência linear e de sobrevida pelo método de Kaplan-Meier, com valores de p < 0,05 para significância. Resultados Os casos estudados de acordo com a histologia foram 1.068 (89,7%) carcinomas (77,2% endometrioides e 22,8% não endometrioides) e 122 (10,3%) sarcomas, com tendência crescente no período (p < 0,05). Histologias de carcinomas não endometrioides, G3 endometrioides e carcinossarcomas consistiram em 30% dos casos. Carcinomas não endometrioides e sarcomas forammais frequentemente diagnosticados em pacientes acima de 70 anos de idade e em estágio IV (p < 0,05). O subgrupo com185 mulheres com carcinoma endometrioide apresentou 92% de sangramento uterino anormal e 43% de diagnóstico após curetagem. O tempo médio decorrido entre os sintomas e o diagnóstico foi de 244 dias e entre os sintomas e o tratamento, 376 dias, todos sem associação com estadiamento (p = 0,976) e sobrevida (p = 0,160). Apenas 12% das pacientes iniciaram o tratamento em até 60 dias após o diagnóstico. Conclusão O número de casos de carcinomas e sarcomas uterinos aumentaram no período de 2001 a 2016. A histologia agressiva compreendeu 30% dos pacientes e, no caso dos carcinomas endometrioides, o tempo decorrido entre os sintomas e o diagnóstico ou tratamento foi longo, embora sem associação com estadiamento ou sobrevida.

Does big mean evil? Giant, but benign uterine leiomyoma: case report and review of the literature / Será que grande significa maligno? Leiomioma gigante, porém benigno: Relato de caso e revisão de literatura

Abstract Uterine leiomyoma is themost prevalent benign type of gynecological tumor. It affects more than 80% of women worldwide and, within this group, more than 50% may be asymptomatic. However, large fibroid volumes may be associated with symptoms of extrinsic compression, and most of the cases do not present atypical cells. We present the case of a 49-year-old woman who underwent a total abdominal hysterectomy of a 13.5-kg uterine leiomyoma with no malignancies at histopathology and review the literature about giant uterine leiomyomas and their clinical repercussion. We concluded that large volumes do not always pose a threat regarding malignancy; however, future molecular studies are needed to investigate giant uterine fibroids.

Resumo Leiomioma uterino é o tumor benigno ginecológico de maior prevalência. Ele afeta mais de 80% das mulheres no mundo e, deste grupo, mais de 50% podem ser assintomáticas. Contudo, miomas de grande volume podem ser associados com sintomas de compressão extrínseca, e a maioria dos casos não apresentam células atípicas. Nós apresentamos o caso de uma mulher de 49 anos que foi submetida a histerectomia total abdominal de um espécime de 13,5 quilos sem malignidades ao exame histopatológico. Também revisamos a literatura sobre leiomiomas uterinos de grande volume e sua repercussão clínica. Concluímos que grandes volumes nem sempre representam um risco relacionado à malignidade; contudo, estudos moleculares futuros são necessários para investigar leiomiomas uterinos gigantes.

Evaluation of KI-67 expression in uterine leiomyoma and in healthy myometrium: a pilot study

SUMMARY OBJECTIVE Evaluate the expression of KI-67 in uterine leiomyomas and adjacent myometrial tissue and verify the existence of a correlation between clinical parameters and KI-67 expression in tumors. METHODS This is a cross-sectional, controlled, analytical study. Samples of leiomyomas and myometrium were obtained from patients who underwent hysterectomy. The samples were processed by immunohistochemistry using KI-67 antibody, and the expression was evaluated by two blinded observers. Student›s T-test was used for comparison of means, and Pearson›s P test for correlation with clinical parameters. RESULTS A total of 9 patients were included in the study. The mean age was 40.7 years, ranging from 35 to 44 years. The mean expression of KI-67 in myometrium was 1.63%, and, in leiomyomas, 5.96% (p <0.001). The highest expression of KI-67 was moderately related to the severity of anemia, bleeding, and pain level. CONCLUSION The expression of KI-67 in normal myometrium was significantly lower than in leiomyomas. The highest expression of KI-67 was moderately related to the severity of anemia, bleeding, and pain level in the patients of this study.

RESUMO OBJETIVO Avaliar a expressão do KI-67 em leiomiomas uterinos e tecido miometrial adjacente e verificar a existência de correlação entre parâmetros clínicos e expressão do KI-67 em tumores. MÉTODOS Estudo transversal, controlado e analítico. Amostras de leiomiomas e miométrio foram obtidas de pacientes que realizaram histerectomia. As amostras foram processadas por imuno-histoquímica utilizando anticorpo para KI-67 e a expressão avaliada por dois observadores cegos. O teste t de Student foi utilizado para comparação de médias e o teste P de Pearson para correlação com parâmetros clínicos. RESULTADOS Um total de 9 pacientes foi incluído no estudo. A idade média foi de 40,7 anos, variando de 35 a 44 anos. A expressão média do KI-67 no miométrio foi de 1,63% e nos leiomiomas de 5,96% (p <0,001). A maior expressão do KI-67 foi moderadamente relacionada com a gravidade da anemia, sangramento e nível de dor. CONCLUSÃO A expressão do KI-67 no miométrio normal foi significativamente menor que nos leiomiomas. A maior expressão do KI-67 foi moderadamente relacionada à gravidade da anemia, sangramento e nível de dor nos pacientes deste estudo.

Leiomioma como simulador de neoplasia maligna uterina: reporte de un caso / Leiomyoma as a simulator of uterine malignant neoplasms: a case report

RESUMEN El cáncer de mama puede originar de forma muy excepcional metástasis en órganos genitales. Estas suelen presentarse de forma asintomática siendo su diagnóstico generalmente tardío. En el estudio de la enfermedad diseminada la tomografía de emisión de positrones con fluordeoxiglucosa asociada a la tomografía computada (FDG PET/CT) juega un rol importante, sin embargo presenta limitantes al momento de diferenciar entre lesiones secundarias, primarias y neoplasias benignas que pueden tener elevada captación de fluordeoxiglucosa (1). Por lo expuesto anteriormente el diagnóstico de certeza solo puede realizarse mediante el estudio anatomopatológico. El caso presentado a continuación abarca uno de los posibles diagnósticos diferenciales con FDG PET/CT que evidencia un incremento en la captación de fluordeoxiglucosa.

ABSTRACT Breast cancer rarely metastasize on pelvic organs and its diagnosis is often delayed due to the asymptomatic nature of this disease. Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (FDG PET/CT) is a useful method for early diagnosis. However, may present a false positive diagnosis from benign lesions that have an increased uptake of glucose. We present a case in which a patient who had breast cancer had an increase glucose uptake in FDG PET/CT from a benign lesion.

Differential expression, diagnostic and prognostic significance of stathmin-1 and CD147 in various uterine smooth muscle tumors / Expresión diferencial, diagnóstico y significado de pronóstico de stathmin-1 y CD147 en diferentes tumores del músculo liso uterino

SUMMARY: Uterine smooth muscle tumors (USMT) are common, behavior-distinct gynecological tumors; including: leiomyoma (ULM), leiomyosarcoma (ULMS), and smooth muscle tumors of undetermined malignant potential (STUMP). Pre-operative distinction is difficult, thus diagnosis relies on histopathology. Immunohistochemistry (IHC) had been used to help in distinction. We studied two markers (stathmin-1 and CD147) to demonstrate whether they have diagnostic/ prognostic assist. Sixty seven USMT are studied. Age, follow up, and recurrence/metastasis data were collected. Representative slides were stained and Histologic score (HS) calculated as stain intensity (SI) X percentage of positive tumor cells (PP). Results were grouped as low expression (LE) and high expression (HE); then correlated to tumor types, and risk of recurrence/ metastasis. Statistical analysis (P < 0.05); Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were calculated. Stathmin-1 HS (p= 0.000) and HE (p=0.002) were different among groups. Same as for CD147 HS and HE (both p=0.000), with a gradient increase from LM to STUMP to ULMS. Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were as following: For stathmin-1 HS: 92 %; 20 %; 42 %; and 80 % (CI= 44-96 %). For Stathmin-1 HE: 80 %; 66 %; 60 %; and 84 % (CI=66-94 %). For CD147 HS: 85 %; 22 %; 41 %; and 69 %. For CD147 HE: 58 %; 49 %; 42 %; and 65 % (CI= 45-80 %), respectively. Recurrence / metastasis were documented in 6 cases (4 ULMS; 2 STUMP) with follow up ranging from 6 months to 102 months. 5 tumors had stathmin-1 HE (p=0.099); 2 had CD147 HE (p=0.393) in the primary tumors. STMN1 and CD147 are helpful diagnostic tests for USMT sub-typing, especially for ULMS. Gradient increase of expression from LM, to STUMP, to ULMS may indicate a role in malignant transformation in USMT, and in increased risk of recurrences/metastasis.

RESUMEN: Los tumores del músculo liso uterino (USMT, por sus siglas en inglés) son tumores ginecológicos comunes y de comportamiento distinto; incluyendo: leiomioma (ULM), leiomiosarcoma (ULMS) y tumores de músculo liso de potencial maligno indeterminado (STUMP). La distinción preoperatoria es difícil, por lo que el diagnóstico se basa en la histopatología. La inmunohistoquímica (IHQ) se había utilizado para ayudar en la distinción. Estudiamos dos marcadores (stathmin-1 y CD147) para demostrar si había efecto diagnóstico / pronóstico. Se estudiaron 67 USMT. Se recopilaron los datos de edad, seguimiento y recurrencia / metástasis. Las muestras representativas se tiñeron y la puntuación histológica (HS) se calculó como la intensidad de la tinción (IS) x porcentaje de células tumorales positivas (PP). Los resultados se agruparon como expresión baja (EB) y expresión alta (EA); luego se correlacionaeon con los tipos de tumores y el riesgo de recurrencia / metástasis. Análisis estadístico (P <0,05); se calcularon la sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS. Stathmin-1 HS (p = 0,000) y HE (p = 0,002) fueron diferentes entre los grupos. Igual que para CD147 HS y HE (ambos p = 0,000), con un aumento de gradiente de LM a STUMP a ULMS. La sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS fueron los siguientes: Para stathmin-1 HS: 92 %; 20 %; 42 %; y 80 % (IC = 44-96 %). Para Stathmin-1 HE: 80 %; 66 %; 60 %; y 84 % (IC = 66-94 %). Para CD147 HS: 85 %; 22 %; 41 %; y el 69 %. Para CD147 HE: 58 %; 49 %; 42 %; y 65 % (IC = 45-80 %), respectivamente. La recurrencia / metástasis se documentaron en 6 casos (4 ULMS; 2 STUMP) con un seguimiento que osciló entre 6 meses y 102 meses. Cinco tumores tenían stathmin-1 HE (p = 0,099); dos tenían CD147 HE (p = 0,393) en los tumores primarios. STMN1 y CD147 son pruebas de diagnóstico útiles para la subclasificación de USMT, especialmente para ULMS. El aumento en el gradiente de la expresión de LM, a STUMP, a ULMS puede indicar un papel en la transformación maligna en USMT y en un mayor riesgo de recurrencias / metástasis.

Frozen section in the management of ovarian and uterine tumors: the past 5 years in a tertiary centre / Exame de congelação no tratamento de tumores uterinos e do ovário: experiência de 5 anos em um centro terciário

Abstract Objective Intraoperative frozen section (IFS) is a valuable resource, and its use in gynecological pathology has not been sufficiently emphasized. The main goal of the present study is to evaluate the reliability and agreement rates between IFS and the final paraffin section (PS) and determine how reliable IFS is. Methods A retrospective study of all IFSs performed on uterine tumors and suspicious adnexal masses between January 2012 and December 2016 (excluding metastases) at the department of obstetrics and gynecology of the Centro Hospitalar Tondela Viseu. Frozen versus permanent section diagnosis were compared regarding the histologic type of the tumor, and the depth of myometrial invasion. Results A total of 286 cases were eligible for the present study, including 102 (35.7%) IFSs of uterine tumors, and 184 (64.3%) IFSs of ovarian tumors. The overall rate of deferred cases was 5.2% (15/286). The accuracy of the diagnosis in cases of endometrial carcinoma was 96.25% (77/80). Among the ovarian tumors, misdiagnoses occurred in 2 cases (1.1%), corresponding to a borderline tumor (serous type) and a clear cell intracystic adenocarcinoma. Conclusion The IFS analysis plays an important role in selected situations and is associated to a high sensitivity and specificity in cases of ovarian and endometrial tumors. Its high accuracy is almost universally associated with the possibility of obtaining an optimal surgical treatment at the time of the first surgical approach.

Resumo Objetivo O diagnóstico intraoperatório por congelação é umrecurso importante cujo uso empatologia ginecológica não tem sido suficientemente enfatizado. O objetivo do presente estudo foi avaliar as taxas de concordância entre o diagnóstico intraoperatório por congelação e o estudo anatomopatológico definitivo e determinar o quanto o diagnóstico intraoperatório por congelação é um método confiável. Métodos Um estudo retrospectivo de todos os diagnósticos intraoperatórios por congelação realizados em tumores uterinos e massas anexiais suspeitas entre janeiro e 2012 e dezembro de 2016 (excluindo metástases) no serviço de ginecologia e obstetrícia do Centro Hospitalar Tondela Viseu. Comparação do diagnóstico intraoperatório por congelação com o resultado do estudo definitivo em relação ao tipo histológico do tumor e profundidade de invasão miometrial. Resultados Um total de 286 casos foram elegíveis para o estudo, incluindo 102 (35.7%) tumores uterinos e 184 (64.3%) tumores ovarianos. A taxa global de casos deferidos foi de 5.2% (15/286). Entre os tumores uterinos, a acuidade de diagnóstico nos casos de carcinoma endometrial foi de 96.25% (77/80). Entre os tumores ovarianos, não se verificou concordância em 2 casos (1.1%), correspondendo a um tumor borderline do tipo seroso e a um adenocarcinoma de células claras intracístico. Conclusão O diagnóstico intraoperatório por congelação apresenta-se com um importante papel em situações selecionadas, sendo acompanhado de elevada taxa de sensibilidade e especificidade para tumores endometriais e ovarianos. A sua elevada acuidade diagnóstica encontra-se associada à possibilidade de obter um tratamento cirúrgico adequado na primeira abordagem cirúrgica

Leiomiosarcoma primario vaginal en el embarazo. A propósito de un caso / Primary vaginal leiomyosarcoma in pregnancy. About A case

RESUMEN Los sarcomas primarios de vagina son extremadamente raros especialmente durante la gestación. Se presenta el caso de una gestante de 25+2 semanas que acude a urgencias con clínica de sangrado vaginal objetivándose a la exploración una formación nodular dependiente de pared vaginal derecha. Dada la clínica se reseca en quirófano con el hallazgo histopatológico de leiomiosarcoma. A la gestante se le realiza sin incidencias una cesárea en la semana 34 de gestación, previa maduración pulmonar fetal, completándose en el puerperio inmediato el estudio de extensión sin encontrarse ningún hallazgo relevante. Finalmente, se somete a la paciente a una histerectomía y salpinguectomía bilateral con preservación ovárica. El seguimiento y los controles sucesivos de la gestante en los meses posteriores muestran ausencia de enfermedad.

ABSTRACT Primary sarcomas of the vagina are extremely rare, especially during pregnancy. We report a case of a 25-week-pregnant who came to emergency room complaining of vaginal bleeding. Pelvic examination revealed a globular mass located on the right vaginal wall. Given the persistent bleeding, resection of the mass was performed. The specimen was sent to pathology and confirmed to be a leiomyosarcoma. At 34-weeks of pregnancy after fetal lung maturation a cesarean section is done. It was completed the extension study during immediate postpartum without any relevant finding. Finally, she had a totally hysterectomy and bilateral salpingectomy with ovarian preservation. Clinical follow-up over the following months shows no evidence of disease.

Atypical Leiomyomas of the Uterus: A Clinicopathologic Study of 54 Cases and an Immunohistochemical Analysis of Ki-67 and p53 / Leiomiomas atípicos del útero: un estudio clínico-patológico de 54 casos y un análisis inmunohistoquímico de Ki-67 y p53

ABSTRACT Objective: Uterine atypical leiomyomas (ALs) are extremely rare and occur in an age group almost one decade earlier than that for leiomyosarcomas. According to the literature, extensive clinicopathologic studies on ALs were limited to only two studies (2, 8). Atypical leiomyomas of the uterus are well-defined neoplasms with smooth muscle cells. The aim of this study was to investigate clinicopathologic findings in 54 cases diagnosed with ALs as well as Ki-67 and p53 expressions immunohistochemically. Methods: Fifty-four cases diagnosed between 2000 and 2013 were included. The histological and clinical features of the cases were reviewed, and their medical records were examined. Ki-67 and p53 were performed on all cases immunohistochemically. Results: The average age of the patients was 41.8 years. The average clinical follow-up period was 57 months. Hysterectomy was performed in 31 patients, and myomectomy in 21 patients, while resection of the mass was performed in two patients due to the intraligamentary mass. The average size of the neoplasms was 6.2 cm. Severe cellular atypia was noticed in 25 patients. While the number of mitoses was 1/10 high power field in 30 patients, it was 4/10 high power field in six patients. Ki67 was found to be positive in 50 patients at the rate of 1-5% immunohistochemically, while p53 demonstrated staining at the ratio of 10-15% staining in four patients. Conclusion: The differentiation of ALs from leiomyosarcomas is crucial. The recurrence rate after follow-up is 2%. In our opinion, the patients diagnosed with 'AL with limited experience' before should be correctly diagnosed as AL. We recommend that Ki-67 and p53 can be used as adjuvant markers immunohistochemically in the patients where a problem in differential diagnosis from leiomyosarcoma exists.

RESUMEN Objetivo: Los leiomiomas atípicos uterinos (LA) son extremadamente raros y se presentan en un grupo de edad casi una década antes que los leiomiosarcomas. De acuerdo con la literatura, los extensos estudios clínico-patológicos en los LA se limitaron a sólo dos estudios (2, 8). Los leiomiomas atípicos del útero son neoplasmas bien definidos con células de músculo liso. El objetivo de este estudio fue investigar los hallazgos clínico-patológicos en 54 casos diagnosticados con LA, así como las expresiones Ki-67 y p53, de forma inmunohistoquímica. Métodos: Se incluyeron cincuenta y cuatro casos diagnosticados entre 2000 y 2013. Se revisaron las características histológicas y clínicas de los casos y se examinaron sus historias clínicas. Ki-67 y p53 se realizaron en todos los casos de forma inmunohistoquímica. Resultados: La edad promedio de los pacientes fue de 41.8 años. El período promedio de seguimiento clínico fue de 57 meses. Se realizaron histerectomías a 31 pacientes, y miomectomías a 21 pacientes, en tanto que a dos pacientes se les realizó resección de la masa debido a la situación intraligamentosa. El tamaño promedio de los neoplasmas fue de 6.2 cm. Se observó atipia celular severa en 25 pacientes. El número de mitosis fue de 1/10 campos de gran aumento en 30 pacientes, en contraste con el número de mitosis de 4/10 campos de gran aumento en seis pacientes. Se encontró que Ki67 fue positivo en 50 pacientes a razón de 1-5% inmunohistoquímicamente, mientras que p53 mostró tinción a razón de 10-15% de tinción en cuatro pacientes. Conclusión: La diferenciación de LA entre los leiomiosarcomas es crucial. La tasa de recurrencia después del seguimiento es de 2%. En nuestra opinión, los pacientes diagnosticados con 'LA con experiencia limitada ' antes, deben ser diagnosticados correctamente como LA. Recomendamos que Ki-67 y p53 sean usados como marcadores adyuvantes inmunohistoquímicamente en los pacientes con un diagnóstico diferencial de leiomiosarcoma.

Review of magnetic resonance-guided focused ultrasound in the treatment of uterine fibroids

Uterine leiomyoma is the most frequently occurring solid pelvic tumor in women during the reproductive period. Magnetic resonance-guided high-intensity focused ultrasound is a promising technique for decreasing menorrhagia and dysmenorrhea in symptomatic women. The aim of this study is to review the role of Magnetic resonance-guided high-intensity focused ultrasound in the treatment of uterine fibroids in symptomatic patients. We performed a review of the MEDLINE and Cochrane databases up to April 2016. The analysis and data collection were performed using the following keywords: Leiomyoma, High-Intensity Focused Ultrasound Ablation, Ultrasonography, Magnetic Resonance Imaging, Menorrhagia. Two reviewers independently performed a quality assessment; when there was a disagreement, a third reviewer was consulted. Nineteen studies of Magnetic resonance-guided high-intensity focused ultrasound-treated fibroid patients were selected. The data indicated that tumor size was reduced and that symptoms were improved after treatment. There were few adverse effects, and they were not severe. Some studies have reported that in some cases, additional sessions of Magnetic resonance-guided high-intensity focused ultrasound or other interventions, such as myomectomy, uterine artery embolization or even hysterectomy, were necessary. This review suggests that Magnetic resonance-guided high-intensity focused ultrasound is a safe and effective technique. However, additional evidence from future studies will be required before the technique can be recommended as an alternative treatment for fibroids.

Cotyledonoid Dissecting Leiomyoma with Symplastic Features: Case Report / Leiomioma dissecante cotiledonoide com aspectos simplásticos: relato de caso

Abstract Purpose Cotyledonoid dissecting leiomyoma is a leiomyoma variant exhibiting unusual growth patterns. We aimed to demonstrate this, as well as to point out another feature that has not been previously reported. Case Report A congested, multinodular myomectomy specimen was resected. Histologically, smoothmuscle fascicles with marked vascularity and extensive hydropic degeneration were detected. A total of 2 mitoses per 10 high power fields were counted, and the Ki-67 index was of 2-3%. We encountered atypical bizarre cells that have not been previously reported. Coagulative necrosis was not present. The patient was alive and well 36 months after surgery, with no evidence of recurrence. Conclusions Albeit the gross aggressive appearance, cotyledonoid dissecting leiomyomas are benign in nature. To this day, atypical cells have not been reported in this type of tumor. Despite the presence of symplastic features, cotyledonoid dissecting leiomyomas are clinically benign entities. Surgeons and pathologists should be acquainted with this variant.

Resumo Introdução O leiomioma dissecante na forma cotiledonoide é uma variante de leiomioma com padrões raros de crescimento. Além de demonstrá-los, vamos apontar outro aspecto anteriormente não relatado. Relato de Caso Uma amostra congestionada, multinodular de miomectomia foi excisada. Histologicamente, detectaram-se fascículos de músculos lisos com marcada vascularidade e extensa degeneração hidrópica. Contaram-se 2mitoses por 10 campos de alta potência, e o índice Ki-67 foi de 2-3%. Encontramos células atípicas, bizarras, que não haviam sido relatadas anteriormente. Não foi observada necrose coagulativa. A paciente encontrava-se saudável e sem evidências de recorrência 36 meses após a cirurgia. Conclusão De aparência bruta e grosseira, os leiomiomas dissecantes na forma cotiledonoide têm natureza benigna. Até hoje, células atípicas não haviam sido relatadas nesse tipo de tumor. Apesar dos aspectos simplásticos, os leiomiomas dissecantes na forma cotiledonoide são entidades clínicas benignas. Cirurgiões e patologistas devem estar familiarizados com essa variante.

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.

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.

The impact of combined radiation and chemotherapy on outcome in uterine papillary serous carcinoma compared to chemotherapy alone / 부인종양

OBJECTIVE: To investigate the impact of pelvic radiation on survival in patients with uterine serous carcinoma (USC) who received adjuvant chemotherapy. METHODS: Patients with stage I-IV USC were identified from the Surveillance, Epidemiology, and End Results program 2000 to 2009. Patients were included if treated with surgery and chemotherapy. Patients were divided into two groups: those who received chemotherapy and pelvic radiation therapy (CT_RT) and those who received chemotherapy only (CT). Kaplan-Meier curves and Cox regression proportional hazard models were used. RESULTS: Of the 1,838 included patients, 1,272 (69%) were CT and 566 (31%) were CT_RT. Adjuvant radiation was associated with significant improvement in overall survival (OS; p<0.001) and disease-specific survival (DSS; p<0.001) for entire cohort. These findings were consistent for the impact of radiation on OS (p<0.001) and DSS (p<0.001) in advanced stage (III-IV) disease but not for early stage (I-II) disease (p=0.21 for OS and p=0.82 for DSS). In multivariable analysis adjusting for age, stage, race and extent of lymphadenectomy, adjuvant radiation was a significant predictor of OS and DSS for entire cohort (p=0.003 and p=0.05) and in subset of patients with stage III (p=0.02 and p=0.07) but not for patients with stage I (p=0.59 and p=0.49), II (p=0.83 and p=0.82), and IV USC (p=0.50 and p=0.96). Other predictors were stage, positive cytology, African American race and extent of lymphadenectomy. CONCLUSION: In USC patients who received adjuvant chemotherapy, adjuvant radiation was associated with significantly improved outcome in stage III disease but not for other stages. Positive cytology, extent of lymphadenectomy and African race were significant predictors of outcome.

Lipoleiomioma uterino: un hallazgo inusual / Uterine lipoleiomyoma: an unusual finding

Los tumores lipomatosos uterinos son lesiones generalmente benignas, de patogenia incierta y muy baja incidencia. Habitualmente se presentan en mujeres posmenopáusicas y el diagnóstico preoperatorio es difícil debido a que se confunden clínicamente y ecográficamente con leiomiomas. Usualmente son asintomáticos pero pueden manifestarse con metrorragia, dolor pélvico y masa palpable. El tumor lipomatoso uterino más frecuente es el lipoma mixto cuya denominación dependerá de las proporciones de tejido adiposo y conectivo que lo constituyan. El manejo puede ser conservador o quirúrgico dependiendo del tamaño y sintomatología de la paciente. Se presenta el caso de una mujer de 50 años, con un tumor uterino diagnosticado preoperatoriamente como leiomioma y con diagnóstico histopatológico de lipoleiomioma.

The uterine lipomatous tumors are usually benign lesions, of uncertain pathogenesis and very low incidence. They are often presented in postmenopausal women and the preoperative diagnosis is difficult because they are confounded clinically and sonographically with leiomyomas. They are frequently asymptomatic but may present with metrorrhagia, pelvic pain and palpable mass. The most common uterine lipomatous tumor is the mixed lipoma whose denomination depends on the proportions of fat and connective tissue. The conservative or surgical management will depend on the size of the tumor and the patient symptoms. We present a case report of a 50 year- old woman with a uterine tumor diagnosed preoperatively as leiomyoma and whose histopathological diagnosis was lipoleiomyoma.