DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center.

Pleuropulmonary blastoma (PPB) is a potentially aggressive, rare childhood neoplasia. We investigated histopathological features, survival, and DICER1 hotspot mutations among PPB patients. Archive records at our institution were reviewed, covering a 20-year period. Thirteen children (6 males and 7 females) with a mean age of 30.5 (range 6-83) months were included. The tumor subtypes were type I in 6 (46%), type II in 4 (31%), and type III in 3 (23%). Only tumors with type II and type III histology showed anaplasia (4/7, 57%). Median follow-up was 28 (range 9-216) months. Three-year overall survival rate was 83.3% and 3-year progression-free survival rate was 25%. Progression was seen in 60% (3/5) of type I and 66.7% (4/6) of type II and type III cases. Two patients died of disseminated disease at 9 and 44 months. Hotspot missense mutations on DICER1 gene were detected in all 11 patients with available tumor tissue. We found an additional novel germline loss-of-function mutation (c.5436dupT; p.E1813*) in 1 case. To the best of our knowledge, this is the first study to investigate hotspot missense mutations on DICER1 gene among the largest series of Turkish children with PPB.

The Relationship between Metabolic Parameters, Cardiac Parameters and MIC-1/GDF15 in Obese Children.

Objective: Childhood obesity which is a predictor of adulthood obesity is associated with type 2 diabetes, metabolic syndrome, dyslipidemia, coronary artery diseases and subclinical inflammation. Growth differentiation factor-15, also known as macrophage inhibitory cytokine-1 (MIC-1/GDF15) is a member of the transforming growth factor- ß super family and increases during inflammatory states. Adults with obesity have increased serum concentrations of MIC-1/GDF15. MIC-1/GDF15 is associated with cardio metabolic risk in adults. Design: Identification of obese children at higher risk for cardio metabolic complications is important. The relations of MIC-1/GDF15 to parameters of obesity in children have never been studied. Methods: We measured serum MIC-1/GDF15 concentration in obese children by ELISA and evaluated its relationship with anthropometric, biochemical and echocardiographic parameters. Results: No significant difference in serum MIC-1/GDF15 between normal-weight and obese children was observed. MIC-1/GDF15 was positively correlated with CRP, ALT and aortic dimension when normal-weight and obese children were analyzed together. Conclusions: MIC-1/GDF15 may provide a link between childhood obesity and cardio metabolic complications that will occur in time course. Further work would be required to find out if MIC-1/GDF15 has any role in the early inflammatory, cardiac and metabolic changes in childhood obesity.

Spontaneous pneumothorax in children with osteosarcoma: report of three cases and review of the literature.

Spontaneous pneumothorax is a rare manifestation of primary lung cancer or metastasis. It is estimated that < 1% of all cases of spontaneous pneumothorax are tumor-associated and metastatic osteogenic or soft-tissue sarcomas are associated most commonly with pneumothorax especially in the setting of cytotoxic chemotherapy or radiotherapy. In this article, we report three pediatric cases with osteosarcoma that developed spontaneous pneumothorax during chemotherapy with a review of the literature. Two of them had lung metastasis at the time of the detection of pneumothorax and the remaining patient was found to have a bronchopleural fistula. SPx is an emergency situation and early diagnosis and management can improve prognosis and quality of life of the patient however the optimal management has yet to be determined.

An outstanding non-transplant surgical intervention in progressive familial intrahepatic cholestasis: partial internal biliary diversion.

AIM: Progressive familial intrahepatic cholestasis (PFIC) is a hereditary disease with severe cholestasis progressing to cirrhosis and chronic renal failure usually during the first decade. An alternative approach is partial diversion of bile. The aim of this study is to describe four patients with PFIC who underwent partial internal biliary diversion (PIBD). METHODS: Review of three patients, their clinical, laboratory and histologic workups to evaluate the short-term effects of PFIC, a 1-year follow-up. For PIBD, a conduit is performed between the terminolateral side of the gall bladder and distal colon using a segment of jejunum, to divert the biliary flow from the enterohepatic cycle without any external stoma. RESULTS: All four patients were presented with jaundice, pruritus, hepatomegaly, sleep disturbance. They fulfilled the criteria for PFIC. The surgery was uneventful. At follow-up, biochemical parameters improved significantly, growth was regained, relief in pruritus, sleeping pattern was normalized. CONCLUSIONS: Partial internal biliary diversion had a dramatic effect on cholestasis, growth, sleeping and biochemical parameters. It also avoids the disadvantages of a permanent stoma. We believe that it is one of the best surgical procedures ever described for PFIC. Since long-term results of partial external biliary diversion on liver histopathology are successful, we hope that our long-term results will also be similar.

Early decortication in childhood empyema thoracis.

Thoracic empyema is a life-threatening condition in paediatric surgical practice and the appropriate management still remains controversial. The authors reviewed 79 (37 boys, 42 girls) cases of empyema thoracis who underwent thoracotomy and decortication between 1990 and 2005. The initial diagnosis based on history, physical examination and radiology was confirmed by thoracentesis. Fever, cough and dyspnoea were the most common presenting symptoms. In all cases aerobic cultures were performed and Staphylococcus aureus was the most common microorganism isolated. All patients except three received antibiotics and tube drainage as an initial treatment. The decision for early decortication was based on persistence of fever, dyspnoea, air leakage and lack of resolution on CT scan, in spite of medical therapy and tube drainage, at the end of 10 days. All but one with wound dehiscence showed rapid recovery and they were discharged on the fifth to eighth postoperative days. In conclusion, early decortication is a safe and curative treatment in childhood empyema thoracis with low morbidity.

Early and late term management in caustic ingestion in children: a 16-year experience.

Accidental corrosive ingestion is one of the common problems causing serious esophageal strictures in children. The acute phase treatment has a great effect on stricture development. In this study we aim to present our experience in the management of caustic ingestion, particularly during the acute phase. From January 1990 to January 2005, 296 children were admitted to our clinic with caustic ingestion. Ninety-one patients who received dilatation treatment due to esophageal strictures constituted the present study group. Forty-three of them were admitted to our centre immediately after caustic ingestion (Group A) whereas 48 of them received some kind of treatment in other hospitals and were referred us with the diagnosis of stricture 6 to 12 weeks after ingestion (Group B). In the acute phase, the patients were given nothing orally until esophagoscopy was performed in the first 24-48 hours. The patients with grades 2b and 3 lesions underwent a week of esophageal rest by using a nasogastric tube. IV fluids and broad-spectrum antibiotics with a single-dose steroid were given. IV ranitidine was also added to the medical treatment. If there were stricture formations on barium meal after 3 weeks, these patients underwent esophageal dilatation programmes. The response rates to dilatation treatment were higher in group A. In addition, increased perforation rates were observed in group B. Sixty per cent of patients in group A but none of the patients in group B have recovered in the first year. In conclusion, after caustic ingestion, esophageal rest combined with supporting treatment seems to provide a good success rate with respect to prevention of stricture development and other troublesome complications.

Traumatic rupture of hydatid cyst with unusual localization without liver involvement: a case report.

Primary hydatid disease of the intestinal mesentery is rare. We report on a 12-year-old male patient who presented with abdominal pain and urticaria lesions after blunt abdominal trauma. At laparotomy the cyst was found to be ruptured and was totally removed from the surrounding mesenteric tissue. The postoperative course was uneventful. This case is the first child reported with traumatic rupture of a hydatid cyst in a mesenteric location.

Polyorchidism presenting with undescended testis.

We report on a case of polyorchidism that presented as undescended testis. Polyorchidism is defined as the presence of more than two testes. As in our case, most cases occur on the left side. The inferior testis is evidently larger than the accessory testis in all of the cases in the literature and, as far as we know, the present case is the first with the small testis located more distally than the larger one. The accessory testis had no reproductive potential due to a lack of attachment to a cord structure; therefore, it was removed because of the high risk of malignancy.

Hepatoblastoma in children.

Hepatoblastoma is the most common primary liver tumour in children. Complete surgical removal is the treatment of choice for cure; however, in most cases the tumour is unresectable because of its extensive hepatic involvement. Nineteen pediatric cases (11 boys, 8 girls) with ages ranging from three months to 17 years were referred for management to our clinic from 1982 until 2000. All but three suffered from abdominal distention. The other frequent complaints were abdominal mass, anorexia, fatigue, abdominal pain and fever. Physical examination revealed enlarged liver in all patients. In addition to laboratory studies, they were pre-operatively examined by ultrasonography and, in recent cases, computed tomography was also used. Serum alpha-fetoprotein levels were found to be elevated in all patients. In thirteen cases, hepatic resections (10 lobectomies, 2 trisegmentectomies, 1 segmentectomy) were performed. In six children only liver biopsies could be done because of the huge tumour size. However, in three of them the tumours were excised at the second laparotomy, but only one patient survived. All of the patients - except two who were lost in the early postoperative period - received chemotherapy whether the tumour was excised or biopsied. In this series the mortality rate was found to be very high (91%) in the 1980s, and more reasonable (50%) in the 1990s, with an overall mortality rate of 73 per cent. This result might be explained with late referral and advanced stage at diagnosis. In addition, we speculate that a combination of improved chemotherapy and technical advances in anesthesia and hepatic resection caused the obvious differences in the survival rates between the two periods.

Electromyographic studies on the external anal sphincter in children with operated anorectal malformations.

Fecal incontinence is a common problem after surgical repair in patients with anorectal malformations. A normally functioning external anal sphincter (EAS) mechanism is a major factor for continence. The aim of this study was to assess the function of the EAS in children with operated anorectal malformations by electromyography (EMG) and to refine the sphincter function further. The study group consisted of 8 patients with incontinence problems who were operated for anorectal malformations. The electrical activity of EAS was evaluated by EMG using concentric needle electrodes in all subjects. The presence, localization, integrity and activity of the sphincter were assessed. Seven of 8 patients showed electrical activity of the EAS. Sphincter localization was found to be appropriate in six children. Five children showed a well preserved sphincter integrity and 2 of them disclosed normal EMG activity. In cases of localization or integrity abnormalities, secondary corrective surgery was planned, while in patients showing only abnormal EMG activity, biofeedback treatment was given. In cases of fecal incontinence in patients with operated anorectal malformations, electromyographic study shows the type of sphincter abnormality and further helps to make a decision whether to improve the EAS function with conservative treatment or surgically.

The role of surgery in intraabdominal Burkitt's lymphoma in children.

The role of surgery in intraabdominal Burkitt's lymphoma remains controversial and different opinions are present in the literature. In our institution, forty patients (30 boys and 10 girls) with intraabdominal Burkitt's lymphoma with ages ranging from 3 to 12 years have been treated and followed from 1989 through 2000. In ten cases, the patients underwent surgery because of their acute abdominal diseases (intestinal obstruction in 5, intussusception in 3, intestinal perforation in one, and acute appendicitis in one). The remaining thirty patients were referred to our clinic because of their abdominal masses, pain, anorexia and fatigue. Twelve children had localized tumors and total resection could be performed. There was one death in this group due to central nervous system involvement during chemotherapy. In the remaining 28 children, extensive intraabdominal diseases were detected. In four of them, debulking procedures were performed, while in 24 children only biopsies could be made; 8 of them underwent a second-look operation. In the debulking procedures group, two children were lost (50 %) due to tumorlysis and acute renal failure. In the biopsy group, there were six deaths (25 %). All patients received chemotherapy after operative recovery. In conclusion, our results suggest that when the tumor is localized, total resection results in a good outcome. However, in the presence of extensive intraabdominal diseases instead of resection, the operation should be limited to biopsy only.

Solid and cystic tumor of the pancreas: a case report.

A case of a solid and cystic tumor of the pancreas occurring in a 15 year-old girl is reported. This patient was admitted with epigastric and left upper quadrant pain and vomiting. A mass was detected in the pancreas on CT scan and the patient was referred for surgery. A distal pancreatectomy was performed. A pathological diagnosis of solid and cystic tumor of the pancreas was made and the patient was discharged uneventfully.