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Introdução: Os lipossarcomas retroperitoneais são neoplasias mesenquimais raras, sendo mais comuns os bem diferenciados e os desdiferenciados. O subtipo bem diferenciado pode sofrer desdiferenciação para tumores de maior grau. São neoplasias difíceis de tratar cirurgicamente, pois apresentam altas taxas de recorrência local, alguns subtipos podem metastizar e são pouco sensíveis à radioterapia e à quimioterapia. Relato do caso: Paciente feminina, 45 anos, apresentou dor abdominal e massa abdominal palpável em 2017. Foi submetida à ressecção de lipossarcoma bem diferenciado de retroperitônio, sem intercorrências. Em 2020, manifestou dor abdominal e perda ponderal. A tomografia mostrou múltiplas massas volumosas abdominais, com biópsia sugestiva de lipossarcoma desdiferenciado. Foi submetida à radioterapia neoadjuvante e, em seguida, à ressecção cirúrgica das massas e ileocolectomia direita. Em 2022, apresentou quadro sugestivo de obstrução intestinal, sendo submetida à laparotomia que evidenciou intenso bloqueio de alças intestinais, fístula duodenal, tumor retroperitonial e peritonite fecal. Procedeu-se à ressecção de neoplasia retroperitoneal, ileostomia e rafia de fístula. O histopatológico mostrou lipossarcoma desdiferenciado recidivado. A paciente evoluiu com complicações operatórias e infecciosas, necessitando de cuidados intensivos e antibioticoterapia. Após melhora clínica, recebeu alta com dieta enteral e segue em acompanhamento ambulatorial. Conclusão: O lipossarcoma de retroperitônio pode sofrer desdiferenciação, recidivas multifocais e múltiplas recorrências, necessitando de várias abordagens cirúrgicas, o que aumenta a morbidade e o risco de complicações. A cirurgia com margens amplas continua sendo a principal modalidade terapêutica.

ABSTRACT Introduction: Retroperitoneal liposarcomas are rare mesenchymal neoplasms, with well-differentiated and dedifferentiated liposarcomas being most common. The well differentiated subtype can undergo dedifferentiation to higher grade tumors. These are difficult neoplasms to treat surgically because they have high rates of local recurrence, some subtypes can metastasize, and are poorly responsive to radiotherapy and chemotherapy. Case report: Female patient, 45 years old, presented abdominal pain and palpable abdominal mass in 2017. She underwent resection of well-differentiated liposarcoma of the retroperitoneum, without intercurrences. In 2020, she manifested abdominal pain and weight loss. Tomography showed multiple voluminous abdominal masses, with biopsy suggestive of dedifferentiated liposarcoma. The patient was submitted to neoadjuvant radiotherapy, followed by surgical resection of the masses and right ileocolectomy. In 2022, she presented symptoms suggestive of intestinal obstruction, and underwent laparotomy that revealed intense blockage of intestinal loops, duodenal fistula, retroperitoneal tumor, and fecal peritonitis. Retroperitoneal neoplasm resection, ileostomy and fistula closure were performed. Histopathology showed relapsed dedifferentiated liposarcoma. The patient evolved with operative and infectious complications, requiring intensive care and antibiotic therapy. After clinical improvement, the patient was discharged with enteral diet and continues under outpatient follow-up. Conclusion: Retroperitoneal liposarcoma may undergo multifocal dedifferentiation and recurrence, requiring several surgical approaches, increasing morbidity and the risk of complications. Wide margin surgery remains the main therapeutic modality.

Introducción: Los liposarcomas retroperitoneales son neoplasias mesenquimatosas raras, siendo los más comunes los liposarcomas bien diferenciados y desdiferenciados. El subtipo bien diferenciado puede sufrir desdiferenciación hacia tumores de mayor grado. Estas neoplasias son difíciles de tratar quirúrgicamente porque presentan altas tasas de recidiva local, algunos subtipos pueden hacer metástasis y responden mal a la radioterapia y la quimioterapia. Informe del caso: Mujer de 45 años, en 2017 presenta dolor abdominal y masa abdominal palpable. Fue sometida a la resección de un liposarcoma bien diferenciado del retroperitoneo, sin intercurrencias. En 2020, manifestó dolor abdominal y pérdida de peso. La tomografía mostró múltiples masas abdominales voluminosas, con biopsia sugestiva de liposarcoma desdiferenciado. Fue sometida a radioterapia neoadyuvante y luego a resección quirúrgica de las masas y a ileocolectomía derecha. En 2022, presentó síntomas de obstrucción intestinal y fue sometida a una laparotomía que reveló obstrucción de las asas intestinales, fístula duodenal, tumor retroperitoneal y peritonitis fecal. Se realizó la resección de la neoplasia retroperitoneal, la ileostomía y la fistulización. La histopatología mostró un liposarcoma desdiferenciado. La paciente evolucionó con complicaciones operatorias e infecciosas, requiriendo cuidados intensivos y terapia antibiótica. Tras la mejora clínica, la paciente fue dada de alta con dieta enteral y está en seguimiento. Conclusión: El liposarcoma retroperitoneal puede sufrir desdiferenciación multifocal y recurrencia, requiriendo varios a tratamientos quirúrgicos, aumentando la morbilidad y el riesgo de complicaciones. La cirugía con márgenes amplios sigue siendo la terapia principal.

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BACKGROUND: The term "Tolosa-Hunt syndrome" (THS) has been used to refer to painful ophthalmoplegia associated with nonspecific inflammation of the cavernous sinus and many processes can result in a similar clinical picture, including infectious, inflammatory and neoplastic diseases. Rosai-Dorfman disease (RDD) is a lymphoproliferative disorder that rarely affects the central nervous system. We report a case of isolated CNS Rosai-Dorfman disease involving the cavernous sinus and presenting as "Tolosa-Hunt syndrome". CASE PRESENTATION: Our patient presented with horizontal diplopia due to impairment of cranial nerves III, IV and VI and a stabbing/throbbing headache predominantly in the left temporal and periorbitary regions. There was a nonspecific enlargement of the left cavernous sinus on MRI and the patient had a dramatic response to steroids. Biopsy of a frontal meningeal lesion was compatible with RDD. CONCLUSIONS: We highlight the importance of including Rosai-Dorfman disease as a differential diagnosis in cavernous sinus syndrome and demonstrate a satisfactory long-term response to steroid treatment in this disease.

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BACKGROUND: Glomangioma is a benign tumor of mesenchymal origin, derived from the glomus body. It is responsible for the thermal regulation of the dermis. The occurrence of oncogenic osteomalacia related to glomangioma is rare. Only two cases have been reported thus far. CASE PRESENTATION: A 32-year-old female, Brazilian, presented diffuse pain, during pregnancy, that developed progressively, limiting her mobility. Imaging showed a femoral neck fracture, and rheumatological laboratory examination showed hypophosphatemia. Also, the patient reported episodes of epistaxis during childhood and recurrence along with progressively right nasal obstruction. Endoscopic resection of the tumor was performed, and immunohistochemistry was conclusive for glomangioma. This case report describes the third case in which endonasal endoscopic surgery resulted in a favorable outcome. CONCLUSION: This case of glomangioma-induced oncogenic osteomalacia suggests that surgeons and clinicians should consider sinonasal tumors as a differential diagnosis of osteomalacia, and endonasal endoscopic surgery should be a possible curative resection.

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ABSTRACT The IgG4-related disease (IgG4-RD) is a systemic disease recently characterized as an inflammatory condition generally related to the increase in serum IgG4 levels, a subclass of immunoglobulins (IgG) which corresponds to less than 6% of the total serum IgG, with singular histopathological features. The involvement of the central nervous system is rare and may be isolated or associated with other organs, mimicking tumors. Commonly, it involves the hypophysis, presenting hypophysitis as the main manifestation, but it can also affect the dura mater, presenting as IgG4-related hypertrophic pachymeningitis (IgG4-RHP). Neurological manifestations occur as a result of mass effect, typically due to vascular or nervous structures compression, resulting in functional deficits according to the anatomical site of the lesion. The main histopathological features are dense lymphoplasmacytic infiltrate, fibrosis arranged, at least focally, in a storiform pattern, and obliterative phlebitis, associated with increased numbers of IgG4+ plasma cells or an increased IgG4/IgG ratio in tissue. In this disease, the serum IgG4 levels are usually increased. The objective of this article is to report the case of a 37-year-old male patient who presented a pulsatile headache associated with diplopia and blurred vision. After radiological, histopathological and immunohistochemical studies, the diagnosis of IgG4-RHP was confirmed, besides presenting a literature review about IgG4-RD and IgG4-RHP.

RESUMEN La enfermedad relacionada con inmunoglobulina G4 (ER-IgG4) es una enfermedad sistémica recientemente caracterizada como condición inflamatoria que se relaciona con el aumento sérico de IgG4, una subclase de inmunoglobulinas (IgG) que incluye menos de 6% del total de IgG séricas, con características histopatológicas propias. El acometimiento del sistema nervioso central (SNC) es raro y puede ser aislado o asociado a otros órganos; es muy confundido con tumores. Es más común en la hipófisis, siendo la hipofisitis su principal manifestación, pero puede acometer también la duramadre, manifestándose como paquimeningitis hipertrófica relacionada con IgG4 (PHR-IgG4). Las presentaciones neurológicas se atribuyen al efecto de masa, tipicamente por compresión de estructuras vasculares o nerviosas, produciendo déficits funcionales según la ubicación anatómica de la lesión. Los hallazgos histológicos más comunes son infiltrado linfoplasmocítico denso, fibrosis (disposta, por lo menos focalmente, en un patrón estoriforme) y flebitis obliterante, además de elevación del número de células plasmáticas IgG4+ o de la proporción IgG4/IgG en el tejido. En esa enfermedad, los niveles séricos de IgG suelen estar elevados. El objetivo de este trabajo es reportar el caso de un paciente masculino con cuadro de cefalea pulsátil asociada a diplopía y visión borrosa. Luego de estudio radiológico, histopatológico y inmunohistoquímico, se obtuvo el diagnóstico de PHR-IgG4. Aún presentamos una revisión de literatura sobre la ER-IgG4 y la PHR-IgG4.

RESUMO A doença relacionada com a imunoglobulina G4 (DRIgG4) é uma enfermidade sistêmica recentemente caracterizada como condição inflamatória que se relaciona com o aumento sérico de IgG4, uma subclasse de imunoglobulinas (IgG) que compreende menos de 6% do total de IgG séricas, com características histopatológicas singulares. O acometimento do sistema nervoso central (SNC) é raro e pode ser isolado ou associado a outros órgãos; é muito confundido com tumores. É mais comum na hipófise, sendo a hipofisite sua principal manifestação, mas pode acometer também a dura-máter, manifestando-se como paquimeningite hipertrófica associada à IgG4 (PH-DRIgG4). As apresentações neurológicas são creditadas ao efeito de massa, tipicamente por compressão de estruturas vasculares ou nervosas, propiciando déficits funcionais de acordo com o sítio anatômico da lesão. Os achados histológicos mais comuns são infiltrado linfoplasmocitário denso, fibrose (em arranjo, pelo menos focalmente, de padrão estoriforme), e flebite obliterativa, além de elevação do número de plasmócitos IgG4+ ou da razão IgG4/IgG no tecido. Nessa doença, os níveis séricos de IgG4 geralmente estão elevados. O objetivo deste artigo é relatar o caso de um paciente do sexo masculino com quadro de cefaleia pulsátil associada à diplopia e turvação visual. Após estudo radiológico, histopatológico e imuno-histoquímico, foi obtido o diagnóstico de PH-DRIgG4. Apresentamos, ainda, uma revisão de literatura sobre DRIgG4 e PH-DRIgG4

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Since its beginning in Wuhan, China, in December 2019, the disease caused by COVID-19 has reached more than 27 million confirmed cases and more than 880 thousand deaths worldwide by early September 2020. Although it is known that some of these deaths may have been influenced by the overload of health systems, the world medical literature lacks data on deaths due to COVID-19 in patients who have not received medical assistance. We conducted a retrospective transversal study to report the clinical and epidemiological profile of the first 200 consecutive cases of home deaths without medical assistance caused by COVID-19 diagnosed by verbal autopsy and real-time PCR in samples of postmortem nasopharyngeal swabs, in the state of Ceara, in Northeastern Brazil. The data show a slightly increased prevalence of cases in males (57%) and an average age of 76.8 years. Previous comorbidities were reported in 85.5% of cases, the most common being cardiovascular disease (45%), neurological disease (30%), and diabetes (29%). The main symptoms reported were dyspnea (79%), fever (75.5%), cough (69%), and fatigue (42.5%). The average time between the onset of illness and death was 7.3 days, being statistically shorter in patients who had previous comorbidities (P = 0.0215). This is the first study to evidence the clinical and epidemiological characteristics of COVID-19 home deaths without medical assistance, which may represent a considerable portion of the pandemic burden, especially in the context of health system overload.

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BACKGROUND: Gliosarcoma (GS) is classified as an IDH-wild-type variant of glioblastoma (GBM). While GS is already an unusual presentation of GBM, IDH1-mutant cases are especially rare. We present an IDH1-mutant primary intraventricular GS case report and a systematic review of the molecular profile in GS correlating to the prognostic and pathogenesis of IDH1/2 mutations. CASE DESCRIPTION: A 44-years-old man presented with ongoing fatigue symptoms and a new-onset intense occipital headache. The patient complained of memory loss, dyscalculia, and concentration difficulties. An MRI revealed a bihemispheric intraventricular mass crossing the midline through the corpus callosum and infiltrating the trigone of the lateral ventricles, hypointense, and hyperintense on the T1- and T2-weighted image. We performed a microsurgical resection with a transparietal transsulcal approach; however, the contralateral mass was attached to vascular structures and we decided to reoperate the patient in another moment. The histopathological study showed a Grade IV tumor and the immunohistochemistry confirmed the diagnosis of GS. The patient presented progressive neurologic decline and died 45 days after the surgical approach. CONCLUSION: We did two systematic reviews studies from PubMed, EMBASE, MEDLINE, Cochrane, and SCOPUS databases, and included molecular and intraventricular studies of GS. We performed further meta-analysis using OpenMetaAnalyst™ software. We conducted a forest plot with the molecular profile of GS. When correlated IDH1 mutation versus tp53 mutation, we found an odds ratio (OR) of 0.018 (0.005-0.064) and P < 0.001. Moreover, we compared IDH1 mutation versus MGMT methylation (P = 0.006; OR = 0.138 [0.034-0.562]). The studies evaluating the molecular profile in GS prognostics are often extended from all GBMs despite specifics GBM variants (i.e., GS). We found a correlation between IDH1 mutation expression with tp53 and MGMT expression in GS, and future studies exploring this molecular profile in GS are strongly encouraged.

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ABSTRACT Introduction: Meningiomas are the most common intracranial tumors in adults. One of the mechanisms used by tumor cells to escape death by immune cells is to interfere with immunological checkpoints, thereby preventing the establishment of adequate immune response. Following this concept, a promising target for an immunomodulatory therapy is blocking programmed cell death 1 (PD-1)/programmed cell death ligand 1 (PD-L1 axis), which is known to be crucial for immune escape mechanisms. Interferon-gamma (IFN-γ) is related to PD-L1 expression, produced by activated T cells, and may promote hyper-regulation of PD-L1 expression in tumor cells. Methods: The retrospective cross-sectional cohort study analyzed 93 patients diagnosed with meningioma of different degrees, and immunohistochemical reactions of PD-L1 and IFN-γ proteins were performed. Results: This study did not detect PD-L1 immunoexpression in any of the 93 analyzed cases. The PD-L1 expression in meningioma cells and their potential role in local immunosuppression are not fully established and their indication for anti-PD-L1 therapy as an alternative treatment for meningiomas is still controversial. Conclusion: IFN-γ immunoexpression was related to lower rates of tumor recurrence and longer progression-free survival time; there was also a relationship with the absence of pleomorphism, better differentiation and lower tumor grade for this marker.

RESUMEN Introducción: Los meningiomas son los tumores intracraneales más comunes en personas adultas. Uno de los mecanismos utilizados por células tumorales para escapar de la muerte es interferir con los puntos de control inmunológicos, impidiendo así el establecimiento de una respuesta inmunitaria adecuada. Siguiendo este concepto, un objetivo prometedor para una terapia inmunomoduladora es el bloqueo del eje de la proteína de muerte celular programada 1 (PD-1)/ligando 1 de muerte celular programada (PD-L1), que es conocido por ser crucial para los mecanismos de escape inmune. El interferón gamma (IFN-γ) se relaciona con la expresión de PD-L1, es producido por células T activadas y puede promover la hiperregulación de la expresión de PD-L1 en células tumorales. Métodos: El estudio de cohorte transversal retrospectivo analizó a 93 pacientes diagnosticados con meningioma de grados variables; se realizaron reacciones inmunohistoquímicas de las proteínas PD-L1 y del IFN-γ. Resultados: Este estudio no detectó inmunoexpresión de PD-L1 en ningún de los 93 casos analizados. La expresión de PD-L1 en células de meningioma y su función potencial en la inmunosupresión local no están totalmente establecidas, y su indicación de terapia anti-PD-L1 como tratamiento alternativo para meningiomas aún es controvertida. Conclusión: La inmunoexpresión de IFN-γ se relacionó con bajas tasas de recidiva tumoral y más tiempo de supervivencia libre de enfermedad, y se constató relación con ausencia de pleomorfismo, mejor diferenciación y grado tumoral más bajo para este marcador.

RESUMO Introdução: Os meningiomas são os tumores intracranianos mais comuns em adultos. Um dos mecanismos utilizados por células tumorais para escapar da morte por células imunes é interferir em checkpoints imunológicos, impedindo, assim, o estabelecimento de resposta imune adequada. Seguindo esse conceito, um alvo promissor para uma terapia imunomoduladora é o bloqueio do eixo de morte celular programada 1 (PD-1)/ligante de morte celular programada 1 (PD-L1), conhecido por ser crucial para mecanismos de escape imune. O interferon gama (IFN-γ) se relaciona com a expressão de PD-L1, sendo produzido por células T ativadas; pode promover a hiper-regulação da expressão de PD-L1 em células tumorais. Métodos: Estudo de coorte transversal retrospectivo que analisou 93 pacientes diagnosticados com meningioma de diversos graus. Reações imuno-histoquímicas das proteínas PD-L1 e do IFN-γ foram realizadas. Resultados: Este estudo não detectou imunoexpressão de PD-L1 em nenhum dos 93 casos analisados. A expressão de PD-L1 em células de meningioma e seu papel potencial na imunossupressão local não estão totalmente estabelecidos, e a indicação de terapia anti-PD-L1 como tratamento alternativo para meningiomas ainda é controversa. Conclusão: A imunoexpressão de IFN-γ relacionou-se com menores taxas de recidiva tumoral e maior tempo de sobrevida livre de progressão de doença. Constatou-se ainda relação com ausência de pleomorfismo, melhor diferenciação e menor grau tumoral para este marcador.

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Sarcomas are rare lesions of the liver and represent <1% of primary liver tumors. Embryonic sarcoma (undifferentiated) of the liver is a rare and aggressive malignant tumor that usually occurs in children with a peak incidence between 6 and 10 years. In adults, it is extremely rare with only 13 cases described in patients older than 40 years and 68 cases reported in patients older than 15 years. There is a slight predominance of females in adults. With an emphasis on morphological and immunohistochemical features, as well as on clinical data and imaging studies, we present this case report, in addition to extensive literature review on the topic.

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