Endoscopic Ultrasound-Guided Ethanol Injection Associated with Trans-arterial Embolization of a Giant Intra-abdominal Cavernous Hemangioma: Case Report and New Therapeutic Option.

BACKGROUND: Cavernous hemangiomas are congenital hamartomatous lesions that originate from mesodermal tissue composed of dilated blood vessels. Abdominal pain and palpable mass are the most common presenting symptoms. The different types of treatment for symptomatic patients remain controversial. However, surgical resection is always the most preferred method when possible. To date, there are no reports of endoscopic ultrasound-guided (EUS-guided) absolute ethanol injection as a treatment for such disease when surgery is not an option. CASE PRESENTATION: A 19-year-old girl with giant cavernous intra-abdominal hemangioma extending to the hepatic hilum, also affecting the gastric wall and occupying the entire supra-mesocolic cavity, initially presents with upper gastrointestinal bleeding and loss of 20 kg in 1 year (BMI = 18 kg/m2). Percutaneous angiography identified a mass with arterial blood supply by the left gastric artery that was embolized. After re-bleeding, an alternative treatment with EUS-guided injection of alcohol was proposed once resection was not feasible without major risks to a young patient. This procedure was repeated 15 and 45 days after the initial treatment, with the ethanol injection of 25 cc and 15 cc, respectively. On the second and third procedure dates, there was evident regression of the hemangioma. On the third procedure, it was possible to identify all anatomic structures that were not clear on the first EUS. After 45 days of last injection, abdominal CT and EUS showed notorious regression of the lesion. Eight months later, abdominal CT showed only a remnant lesion in the hepatogastric ligament with 129 cm3 on volumetry (87% lower in comparison to the initial image), and the patient remains asymptomatic with BMI of 26. In the most recent follow-up CT, 4 years and 2 months after first treatment, the patient presents with a slight increase in the hemangioma-now with 183 cm3 on volumetry. CONCLUSION: Transgastric EUS-guided ethanol injection in the treatment of giant intra-abdominal cavernous hemangioma can provide good outcomes without major complications and can be repeated if necessary.

Thoracic duct lymphangioma and chylous ascites in a 24-year-old female

Lymphangiomas are rare and correspond to 0.7% to 4.0% of mediastinal tumors, and isolated mediastinal location occurs in 1% of cases. They are benign tumors that originate from a congenital malformation of the lymphatic vessels and are diagnosed more frequently in children less than 2 years of age. Chylous ascites is a clinical manifestation of thoracic duct lymphangioma and is composed of lymph accumulation caused by dilation of this lymphatic channel. It appears milky in the peritoneal cavity, containing triglyceride levels higher than 200 mg/dl. We report the case of a young patient with chylous ascites and lymphangioma of the thoracic duct, who was conservatively treated with octreotide and a low-fat diet with medium-chain triglycerides.

[Opsoclonus myoclonus syndrome secondary to abdominal neuroblastoma. Presentation of a pediatric clinical case]. / Síndrome de opsoclonus mioclonus secundario a neuroblastoma abdominal. Presentación de un caso clínico pediátrico.

Opsoclonus-myoclonus syndrome is a rare disorder among pediatric patients. The diagnosis is clinical and is characterized by the presence of at least three of the following: opsoclonus, myoclonus, ataxia, irritability and sleep disorders. In over 50 % of cases it is associated with the presence of Neuroblastoma. It is a disorder of immune origin and its treatment is based on immunosuppressants, immunomodulators and tumor resection in cases secondary to Neuroblastoma. Up to 70 % to 80 % of cases may present neurological sequelae, depending on the cause, the initial severity of symptoms and the delay of proper treatment. We present the case of a 2-year-old male with diagnosis of opsoclonus-myoclonus syndrome secondary to a left adrenal Neuroblastoma. Tumor resection and treatment with corticosteroids, immunoglobulin and rituximab were performed.

El síndrome de opsoclonus mioclonus es un trastorno poco frecuente en pediatría. El diagnóstico es clínico y se caracteriza por la presencia de, al menos, tres de los siguientes: opsoclonus, mioclonías, ataxia, irritabilidad y trastornos del sueño. En más del 50 % de los casos, se asocia con la presencia de neuroblastoma. Es un trastorno de origen inmunitario y su tratamiento es a base de inmunosupresores, inmunomoduladores y resección tumoral en los casos secundarios a neuroblastoma. Entre el 70 % y el 80 % de los casos pueden tener secuelas neurológicas, dependiendo de la causa, la gravedad inicial de los síntomas y la velocidad de instauración del tratamiento. Se presenta el caso de un varón de 2 años con diagnóstico de síndrome de opsoclonus mioclonus secundario a un neuroblastoma suprarrenal izquierdo, en el que se realizó la resección tumoral y el tratamiento con corticoides, inmunoglobulina y rituximab.

Epidemiological Data on the Nutritional Status of Cancer Patients Receiving Treatment with Concomitant Chemoradiotherapy, Radiotherapy or Sequential Chemoradiotherapy to the Abdominopelvic Area.

Cancer patients are particularly susceptible to undernourishment so associated weight loss is frequent. Approximately 15% of patients lose >10% of their usual body weight, 40-80% become undernourished, and about 20% die as a result. Well-nourished patients have a higher survival rate when compared with patients at risk of undernourishment (19.9 vs. 3.7 months); hence, nutritional intervention is pivotal. Undernourishment negatively influences the patient's prognosis, and its prevalence depends on the tumor type and location, disease stage, treatment, and the applied nutritional evaluation tool. During abdominopelvic radiotherapy, up to 90% of patients experience symptoms of varying severity; weight loss during radiotherapy is an early indicator of nutritional deterioration, and he the use of radiation is associated with a higher likelihood of undernourishment. In patients with gynecological malignancies, 12.5-54% are malnourished before receiving oncological treatment, worsening after treatment in 35.8-82% of cases. There is also deterioration of the nutritional status in patients with colorectal cancer once pelvic radiotherapy is initiated, whereby 50% of cases are malnourished at the beginning of treatment, and 66.7% are so when it ends. Although there are notable differences in the impact of radiotherapy on weight according to the radiated region, 88% patients receiving abdominal radiotherapy were found to lose weight compared to 38% of patients whose treatment was limited to the pelvis.

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor. Here, we present a comprehensive genomic profiling of one DSRCT affecting a 26-year-old male, who achieved an excellent outcome. METHODS: We investigated somatic and germline variants through whole-exome sequencing using a family based approach and, by array CGH, we explored the occurrence of genomic imbalances. Additionally, we performed mate-paired whole-genome sequencing for defining the specific breakpoint of the EWS-WT1 translocation, allowing us to develop a personalized tumor marker for monitoring the patient by liquid biopsy. RESULTS: We identified genetic variants leading to protein alterations including 12 somatic and 14 germline events (11 germline compound heterozygous mutations and 3 rare homozygous polymorphisms) affecting genes predominantly involved in mesenchymal cell differentiation pathways. Regarding copy number alterations (CNA) few events were detected, mainly restricted to gains in chromosomes 5 and 18 and losses at 11p, 13q, and 22q. The deletions at 11p and 22q indicated the presence of the classic translocation, t(11;22)(p13;q12). In addition, the mapping of the specific genomic breakpoint of the EWS-WT1 gene fusion allowed the design of a personalized biomarker for assessing circulating tumor DNA (ctDNA) in plasma during patient follow-up. This biomarker has been used in four post-treatment blood samples, 3 years after surgery, and no trace of EWS-WT1 gene fusion was detected, in accordance with imaging tests showing no evidence of disease and with the good general health status of the patient. CONCLUSIONS: Overall, our findings revealed genes with potential to be associated with risk assessment and tumorigenesis of this rare type of sarcoma. Additionally, we established a liquid biopsy approach for monitoring patient follow-up based on genomic information that can be similarly adopted for patients diagnosed with a rare tumor.

[Preoperative embolization of abdominal paraganglioma: case report]. / Embolização pré operatória no tratamento de paraganglioma abdominal: relato de caso.

Paragangliomas is a pheochromocytoma of extra adrenal localization. The case report is a male, 55 years old who presented symptoms of adrenergic hyperstimulation associated to an abdominal mass diagnosed as paraganglioma by a biopsy. Because of its size, localization and vascularization, an aortography with embolization of the nutrient branches of the tumor was done pre-operatively. Four days later, a surgical ressection was performed, and the tumor was adhered to the duodenum, infra-renal aorta and inferior vena cava. We believe that an angiographic study pre-operatively with embolization makes possible an analysis of the anastomosis and arterial supplement, making the ressecability of the tumor safer, although it seems the surgical intervention should have been done earlier.

Embolização pré operatória no tratamento de paraganglioma abdominal: relato de caso / Pré-operative embolization of abdominal paraganglioma: case report

Paragangliomas is a pheochromocytoma of extra adrenal localization. The case report is a male, 55 years old who presented symptoms of adrenergic hyperstimulation associated to an abdominal mass diagnosed as paraganglioma by a biopsy. Because of its size, localization and vascularization, an aortography with embolization of the nutrient branches of the tumor was done pre-operatively. Four days later, a surgical ressection was performed, and the tumor was adhered to the duodenum, infra-renal aorta and inferior vena cava. We believe that an angiographic study pre-operatively with embolization makes possible an analysis of the anastomosis and arterial supplement, making the ressecability of the tumor safer, although it seems the surgical intervention should have been done earlier.

A case of bilateral seminoma in the setting of persistent mullerian duct syndrome.

We are reporting on the case of a 46XY male patient that presented a bilateral testicular seminoma in the setting of bilateral cryptorchidia and left inguinal hernia. The patient received five courses of cisplatin/ciclophosphamide followed by 3,000 cGy of radiation. The patient then, underwent resection of the residual mass and of an unrecognizable pelvic structure. The histopathological analysis revealed necrosis of the residual seminoma and an atrophic uterus. Currently, the patient is alive and asymptomatic at 88 months of follow-up. This is the third case reported of a patient with persistent mullerian duct syndrome and bilateral seminoma.

Tumores cancerosos más frecuentes en pediatría: del oncólogo al pediatra / More frequent cancerous tumors in pediatrics: from oncologist to pediatrician

El rol del pediatra general en el diagnóstico precoz de los diferentes tipos de cáncer que afectan a los niños, es uno de los aspectos que el autor pone en evidencia. A su vez entrega los conocimientos básicos que permiten conocer la situación de los principales avances y la conducta de referencia al especialista. Se trata de un análisis más bien práctico, pues la idea es transmitir su experiencia en el manejo de estas enfermedades, de tal forma que sean de utilidad para el pediatra general, el pediatra con otra especialidad o para el médico general

Lipossarcomas mixioides multicentricos e multifocais sincronicos e metacronicos: relato de caso / Multicenter and multifocal sincronic and metacronic mixoid liposarcomas: case report

Relatamos o caso de um paciente do sexo masculino de 66 anos de idade que apresentou num periodo de seis anos varios lipossarcomas mixoide multicentricos e multifocais sincronicos e metacronicos. Os autores fazem uma revisao das alteracoes citogeneticas e moleculares recentemente descritas na literatura neste tipo de tumor. As alteracoes cromossomicas sao respresentadas pelas translocacoes t (12;16) (q13;p11) e trissomia do cromossomo 8. A analise genica revelou a presenca de fragmentos de restricao alterados devido a diferenca de metilacao especificas e reprodutiveis. Concluem sugerindo que a existencia de multiplos tumores no mesmo paciente sugere a existencia de fator etiologico comum, ainda desconhecido, como sendo o iniciador desta desordem sistemica do tecido gorduroso.

[Multicentric myxoid, metachronous and synchronous and multifocal liposarcoma: report of a case]. / Lipossarcomas mixoides multicêntricos e multifocais sincrônicos e metacrônicos: relato de caso.

A case of a male patient, 66 years old, who exhibited in a period of six years many multicentric and multifocal synchronic and metachronic myxoid liposarcomas is reported. The authors made a revision of cytogenetics and DNA alterations recently identified in this type of tumor. The chromosomic alterations are represented by the translocation t(12;16) (q13;p11) and trisomy of the chromosome 8. The genic analysis revealed the presence of altered restriction fragments due to highly specific and reproducible methylation differences. In conclusion the authors suggest that the presence of the multiple tumors of this type in the same patient could be due to a common etiologic factor, not yet known, as being the initiator of this systemic illness of the fat tissue.

Tratamento de suporte da criança com câncer / Support treatment of children with cancer

O câncer da infância geralmente necessita de tratamento agressivo, que pode causar efeitos indesejáveis como mielossupressao, distúrbios metabólicos e insuficiência renal. Os autores apresentam o caso clínico de um paciente portador de linfoma nao-Hodgkin, com o objetivo de discutir as alteraçoes metabólicas e infecciosas que podem ocorrer durante o tratamento.

Massas abdominais na crianca / Abdominal mass in children

A presenca patologica de aumento de volume de algumas viscera ou de neoformacao na crianca e analisada sob a denominacao generica de "massas abdominais". A maior ou menor incidencia dos principais tumores do recem-nascido ou da crianca maior e seu comportamento benigno ou maligno, em especial daqueles cujo tratamento e eminentemente cirurgico e aqui comentado e discutido. O quadro clinico e os principais exames complementares da investigacao diagnostica dos tumores da crianca sao revisados a luz da literatura

Tratamento da dor abdominal de origem neoplásica: bloqueio neurolítico do plexo celíaco / Treatment of abdominal pain of neoplastic origin: neurolytic celiac plexus block

Descreve-se a técnica de neurólise alcoólica do plexo celíaco, para o tratamento radical da dor visceral causada por neoplasias primárias ou metastáticas do abdome. Faz-se completa revisäo anatômica do plexo celíaco e seus elementos componentes. Apresentam-se os resultados clínicos obtidos em 78 pacientes oncológicos e 2 näo oncológicos, no período de 3 anos. Conclui-se que, na ausência de invasäo metastática parietal, o bloqueio neurolítico do plexo celíaco é a técnica de eleiçäo para o tratamento da dor oncológica das vísceras abdominais superiores

Comparison of morbidity in children requiring abdominal radiation and chemotherapy, with and without total parenteral nutrition.

We evaluated the effectiveness of total parenteral nutrition and placing the "bowel at rest," as compared to that of ad libitum food intake, on nutritional status and tolerance to combined chemotherapy and radiotherapy in a randomized, prospective trial in children with previously untreated malignancy requiring abdominal and pelvic irradiation and chemotherapy. Administration of TPN was found to be safe and efficacious in maintaining the children in good nutritional status during combined therapy; one-third of the control patients became malnourished and required TPN. There was no beneficial effect of "bowel at rest" and TPN on the ability of patients to tolerate combined therapies in terms of decreased toxicity; however, use of TPN was associated with improved adherence to chemotherapy schedules. Following termination of TPN or ad libitum food intake, and while receiving chemotherapy, the majority of the children who had previously received TPN lost significant weight. To date there has been no difference in mortality rate between the control and TPN groups. Although we conclude that TPN per se had little beneficial effect beyond that of maintaining good nutritional status, every child undergoing intensive combined therapy should have early and periodic assessments of nutritional status, so that the early signs of malnutrition can be detected, and the adverse effects of malnutrition can be prevented by nutritional replenishment, by TPN, or by other methods.