Desmoplastic Small Round Cell Tumor: Imaging Pattern of Disease at Presentation.

OBJECTIVE: The purpose of this study is to evaluate the clinical, pathologic, and multimodality cross-sectional imaging features of a cohort of 94 patients with desmoplastic small round cell tumor (DSRCT). MATERIALS AND METHODS: This retrospective study of 94 patients with pathologically verified DSRCT was conducted at a tertiary cancer center between 2001 and 2013. Epidemiologic, clinical, pathologic, and imaging findings were recorded. Tumor size, location, and shape and the distribution pattern of metastases at presentation were analyzed. RESULTS: DSRCT most often occurred in young patients (median age, 21.5 years; range, 5-53 years), showing a marked predominance in male patients (86 male patients vs eight female patients). Eighty nine-patients (95%) were white (defined in this study as white or Hispanic), four were African American, and one was of Asian descent. Most patients had symptoms, with abdominal pain noted as the most common symptom. At initial presentation, 85 patients (90%) had multifocal disease, nodular disease, diffuse omental and peritoneal disease, or a combination of these conditions. Thirty-eight patients (40%) had diaphragmatic involvement. Thirty-two patients (34%) had liver metastases, and 49 patients (52%) had retroperitoneal involvement in the form of implants, tumoral extension, or nodal involvement. With regard to thoracic findings, 33 patients (35%) had nodal disease, 17 (18%) had pleural effusions, and only two (2%) had lung metastases at presentation. Twelve patients (13%) had calcified lesions. CONCLUSION: DSRCT is a rare, multifocal peritoneal malignancy with frequently disseminated abdominal disease at presentation. In the abdomen, disease most commonly involves the omentum and peritoneum, followed by the retroperitoneum. The liver is the most common solid visceral metastatic site. A substantial number of patients have diaphragmatic involvement. In the thorax, nodal and pleural involvement is more common than lung involvement.

Investigating the association between perioperative blood transfusions and outcomes in children undergoing cytoreductive surgery with hyperthermic intraperitoneal chemotherapy.

BACKGROUND AND OBJECTIVES: Studies indicate the perioperative transfusion of red blood cells during oncologic surgery may be associated with worse outcomes. In this study, we evaluated the impact of red blood cell transfusions on the short- and long-term outcomes of children undergoing a major oncologic surgery. MATERIALS AND METHODS: A retrospective review of the medical records of children ≤18 years of age who had undergone cytoreductive surgery with hyperthermic intraperitoneal chemotherapy was performed. Univariate and multivariate analyses were performed to identify factors influencing survival, complications and length of stay. RESULTS: Seventy-five children were identified, 80% of whom had received a red blood cell transfusion. Children who received a red blood cell transfusion had a significantly longer length of stay (P = 0·0003). However, the association between red blood cell transfusions and recurrence-free survival (HR: 1·307, 95% CI: 0·547-3·124; P = 0·55), overall survival (HR: 1·487, 95% CI: 0·585-3·780; P = 0·40) or the incidence of major complications (27·8 vs. 0% in non-transfused children, P = 0·18) was not statistically significant. CONCLUSION: This retrospective study of children undergoing major oncologic surgery did not demonstrate a significant association between red blood cell transfusions and worse outcomes.

Toxicity of hyperthermic intraperitoneal chemotherapy (HIPEC) in pediatric patients with sarcomatosis/carcinomatosis: early experience and phase 1 results.

BACKGROUND: Intra-abdominal metastasis is a rare form of tumor dissemination in children. Complete surgical resection is usually deemed impossible. Children are frequently offered palliative care only. We adopted an aggressive approach for these cases which includes removal of dozens to hundreds of tumor nodules followed by perfusion of the abdominal cavity with hyperthermic chemotherapy (HIPEC) with a curative intent. METHODS: We evaluated toxicity in 23 children and young adults undergoing 27 HIPEC procedures using cisplatin. Disease diagnoses included rhabdomyosarcoma (RMS), non-RMS soft tissue sarcoma, (NRSTS), desmoplastic small round cell tumor, (DSRCT), mesothelioma, Wilms tumor, melanomatosis, and adenocarcinoma. Patients underwent cytoreductive surgery followed by cisplatin at 40.5-41 °C, for 90 minutes. A subset of these patients was enrolled on our phase 1 study and as part of dose escalation cohort received 150 mg/m(2) of cisplatin. All toxicities were recorded. RESULTS: Maximum tolerated dose was 100 mg/m(2). Dose limiting toxicity was grade 3 renal failure. In five of 27, 18% had grade 3 or higher renal failure. One patient developed a subclinical decrease in hearing and there were 2 grade 3 hematologic toxicities, 2 grade 3 hepatic toxicities, and one grade 3 ileus. One patient suffered grade3 cardiotoxicity. There were no operative/perioperative mortalities. Surgical complications occurred in 5/27 (18%) of patients. With a follow-up of 6-60 months, seven patients (26%) had no recurrence. CONCLUSIONS: HIPEC is reasonably tolerated in pediatric patients with extensive abdominal metastasis. More study is needed to determine for which histologies HIPEC is most efficacious.

Partial splenectomy in children under 4 years of age with hemoglobinopathy.

BACKGROUND/PURPOSE: The risk of septicemia in postsplenectomy pediatric patients is approximately 2%. This risk is twice as great for children less than 4 years of age. In the first year of life this risk can be 30% or higher. Partial splenectomy is an alternative in patients with hemoglobinopathies. The authors attempt to assess the outcome of pediatric patients less than 4 years of age undergoing partial splenectomy using the Argon beam. METHODS: In a tertiary care, university affiliated, dedicated children's hospital seven patients underwent partial splenectomy (PS) by the same surgeon from May 1993 to September 1995. The PS performed for trauma was excluded. Included were patients with hemoglobinopathies. Therefore, six patients were evaluated. Follow-up was from 6 months to 2 years. Pre- and postoperative blood transfusions, length of operation, estimated blood loss, length of hospital stay, postoperative complications, perfusion, and function of remnant spleen were evaluated. RESULTS: Indications for splenectomy included sequestration crisis and hypersplenism. Percent splenectomy ranged from 65% to 75%. Average hospital stay was 6.3 days. Postoperative splenic function, measured by Pitt count and radionuclide spleen scan, was normal. Postoperatively there were no systemic infections, overwhelming postsplenectomy sepsis (OPSS), torsion of the splenic remnant, left upper quadrant fluid collections, or subphrenic abscesses. There were no deaths. CONCLUSIONS: Partial splenectomy is a safe and effective procedure in children less than 4 years of age with hemoglobinopathies. The procedure as described yields minimal blood loss and retains immune competence. Partial splenectomy greatly reduces, and in some cases eliminates, the need for blood transfusions. PS should be considered the procedure of choice in children less than 4 years of age with sickle cell anemia or beta-thalassemia who require splenectomy.

Nonrhabdomyosarcoma soft tissue sarcomas in children: is age at diagnosis an important variable?

PURPOSE: The associations between age at diagnosis, tumor characteristics, and outcome in children diagnosed with nonrhabdomyosarcoma soft tissue sarcoma (NRSTS) were studied. METHODS: Retrospective review was conducted of 192 children from 1962 through 1996. Patients were divided into groups: birth to 1 year (n = 13), 1 to 5 years (n = 26), 5 to 10 years (n = 49), 10 to 15 years (n = 55), and older than 15 years (n = 49) of age at diagnosis. Characteristics including IRS group, histological grade and pattern, tumor size, and invasiveness were investigated. Survival rate was estimated by age group. The median follow-up was 8.8 years (range, 2 to 28 years). RESULTS: There were 81 group I patients, 40 group II, 41 group III, and 30 group IV. A significant difference of IRS groups among the age groups was seen (P = .034). There were no IRS group IV patients less than 1 year of age; 50% of IRS group IV patients were older than 15 years. A significant difference in the distribution of histological grade among the age groups (P = .032) was seen. Ten of 13 (77%) children less than 1 year of age had low-grade tumors, whereas 42%, 45%, 60%, and 37% of patients aged 1 to 5, 5 to 10, 10 to 15, and older than 15 years, respectively, had low-grade tumors. Patients older than 15 years had the highest incidence of invasive tumors (59%). Histological pattern also varied with age. The most prevalent histology in the less-than-1-year age group was infantile fibrosarcoma. No predominant histology was seen in the 1- to 5-year age group. Malignant fibrous histiocytoma was the most frequent histological subtype in children between 5 and 10 years of age. In the 10- to 15-year age group and children older than 15 years the malignant peripheral nerve sheath tumor and synovial sarcoma were the most prevalent subtypes. Without adjusting for any other factors, age group was prognostic of survival (P = .007). Patients less than 1 year at diagnosis had the best outcome, with a 5-year survival rate of 92% +/- 9%. Five-year estimates were lowest for patients older than 15 years (49% +/- 7%). CONCLUSIONS: Significant differences in IRS group, histological grade, and histological subtype were observed in different age groups. Infants with NRSTS were more likely to have low grade, less invasive, and lower stage tumors. These characteristics may account for their improved prognosis.

Ectopic pancreas as the cause of gastric outlet obstruction in a newborn.

This case of ectopic pancreas found in the pre-pyloric channel of a 2-day-old infant is unique. A review of the literature reveals no other cases of symptomatic ectopic pancreas in an infant of this age. In this patient, signs and symptoms were consistent with pyloric stenosis. Upper gastrointestinal study and esophagogastroduodenoscopy (EGD) revealed the diagnosis. This case is examined and the literature is reviewed.

Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas.

Most insulin-producing beta-cells in the fetal mouse pancreas arise during the secondary transition, a wave of differentiation starting at embryonic day 13. Here, we show that disruption of homeobox gene Nkx6.1 in mice leads to loss of beta-cell precursors and blocks beta-cell neogenesis specifically during the secondary transition. In contrast, islet development in Nkx6. 1/Nkx2.2 double mutant embryos is identical to Nkx2.2 single mutant islet development: beta-cell precursors survive but fail to differentiate into beta-cells throughout development. Together, these experiments reveal two independently controlled pathways for beta-cell differentiation, and place Nkx6.1 downstream of Nkx2.2 in the major pathway of beta-cell differentiation.