Surgical Management of Wilms Tumors with Intravenous Extension: A Multicenter Analysis of Clinical Management with Technical Insights.

BACKGROUND: About 5% of Wilms tumors present with vascular extension, which sometimes extends to the right atrium. Vascular extension does not affect the prognosis, but impacts the surgical strategy, which is complex and not fully standardized. Our goal is to identify elements of successful surgical management of Wilms tumors with vascular extensions. PATIENTS AND METHODS: A retrospective study of pediatric Wilms tumors treated at three sites (January 1999-June 2019) was conducted. The inclusion criterion was the presence of a renal vein and vena cava thrombus at diagnosis. Tumor stage, pre and postoperative treatment, preoperative imaging, operative report, pathology, operative complications, and follow-up data were reviewed. RESULTS: Of the 696 pediatric patients with Wilms tumors, 69 (9.9%) met the inclusion criterion. In total, 24 patients (37.5%) had a right atrial extension and two presented with Budd-Chiari syndrome at diagnosis. Two died at diagnosis owing to pulmonary embolism. All patients received neoadjuvant chemotherapy and thrombus regressed in 35.6% of cases. Overall, 14 patients had persistent intra-atrial thrombus extension (58%) and underwent cardiopulmonary bypass. Most thrombi (72%) were removed intact with nephrectomy. Massive intraoperative bleeding occurred during three procedures. Postoperative renal insufficiency was identified as a risk factor for patient survival (p = 0.01). With a median follow-up of 9 years (range: 0.5-20 years), overall survival was 89% and event-free survival was 78%. CONCLUSIONS: Neoadjuvant chemotherapy with proper surgical strategy resulted in a survival rate comparable to that of children with Wilms tumors without intravascular extension. Clinicians should be aware that postoperative renal insufficiency is associated with worse survival outcomes.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. OBJECTIVES: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). CONCLUSIONS AND RELEVANCE: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.

Celio-mesenteric trunk associated with giant omphalocele: surgical consequences / Tronco celíaco-mesentérico asociado con onfalocele gigante: consecuencias quirúrgicas

We report the first case of a newborn presenting with a celio-mesenteric trunk variation associated with a giant omphalocele. The celio-mesenteric trunk was unexpected and unseen during the staged surgical closure. After partial reintegration of the liver, the newborn presented refractory hypovolemia with anuria, leading to redo surgery. This procedure revealed ischemia of the liver and necrosis of the entire gastrointestinal tract except the colon. Despite treatment, including liver externalization, the infant did not survive. The autopsy revealed a celio-mesenteric trunk, a rare anomaly characterized by a common origin of the celiac axis and the superior mesenteric artery from the aorta. This association may explain the dramatic consequences of the staged closure procedure. Awareness of the association of celio-mesenteric trunk and omphalocele would allow the surgeon to take extra care during this delicate surgery.

Presentamos el primer caso de un recién nacido que presenta una variación del tronco celíaco-mesentérico asociada con un onfalocele gigante. El tronco celíaco-mesentérico fue inesperado y no se vio durante las etapas del cierre quirúrgico. Después de la reintegración parcial del hígado, el recién nacido presentó hipovolemia refractaria con anuria, lo que condujo a la repetición de la cirugía. Este procedimiento reveló isquemia del hígado y necrosis de todo el tracto gastrointestinal excepto el colon. A pesar del tratamiento, incluyendo la externalización hepática, el bebé no sobrevivió. La autopsia reveló un tronco celíaco-mesentérico, una rara anomalía caracterizada por un origen común del tronco celíaco y la arteria mesentérica superior, a partir de la aorta. Esta asociación puede explicar las dramáticas consecuencias del procedimiento durante las etapas del cierre. El conocimiento de la asociación de tronco celíaco-mesentérico y onfalocele permitiría al cirujano tomar especial cuidado durante esta delicada cirugía.