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Management of patients with hereditary medullary thyroid carcinoma
1214
International Abstracts
the unexpected findings in Queensland. Pediatric surgeons may have an important role in guiding the resuscitation and management of injured children, even when there are no abdominal injuries. — A.J.A. Holland
OK-432 and lymphatic malformations in children: the Starship Children’s Hospital experience Wheeler JS, Morreau P, Mahadevan M, et al. Aust N Z J Surg 2004 (October);74:855-858. This retrospective review sought to evaluate the outcome of sclerotherapy for 7 children between 6 months and 5 years of age with cystic hygromas treated at a paediatric teaching hospital in New Zealand between 1999 and 2002. OK-432, an inactivated form of Streptococcus pyogenes, was administered in a dose of 0.1 mg in 10 mL of normal saline after aspirating a similar volume from the malformation under ultrasound guidance. Four of the lesions were in the axilla, with the remaining 3 in the head and neck area. All procedures were performed under general anaesthesia as a day-case, although one patient was re-admitted with a fever of 38 8C. Duration of review varied from 2 weeks to 24 months. The majority of patients responded to treatment within 2 weeks, although all but 2 patients required between 2 and 7 treatment episodes. The authors observed that the macrocystic component appeared to involute in all lesions but in at least 3 patients further surgical intervention was required or planned for a persisting microcystic component. The authors concluded that OK-432 treatment appeared to be a safe and effective treatment for the macrocystic component of lymphatic malformations, with the additional benefit of avoiding the potential sequelae of surgical excision in a proportion of patients. — A.J.A. Holland
Head and Neck Management of patients with hereditary medullary thyroid carcinoma Fitze G. Eur J Pediatr Surg 2004 (December);14:375-383. The heredity of medullary thyroid carcinoma within MEN2 syndrome is caused by heterozygous germline mutations in the RET-proto-oncogene. Since MEN2-associated mutations involve only hot spots, the molecular genetic analysis of the RET-proto-oncogene constitutes the perfect tool for the diagnosis of MEN2, thus being considered the standard method. The molecular genetic screening for MEN2-associated RET germline mutations should be carried out in all patients with an apparently sporadic medullary thyroid carcinoma or pheochromocytoma. This testing needs to include exons 10, 11, and 13 to 16 of the RET-proto-oncogene. Such investigations are aimed at identifying an index person of a new MEN2 family. The detection of such a RET-germline mutation is the basis for predictive molecular genetic testing within an affected family, and allows the exclusion or identification of gene carriers. For those family members at risk, prophylactic total thyroidectomy is recommended as a curative procedure, according to a risk-adapted, genetically based treatment algorithm. The management of such affected families should always by complemented by oncological and genetic counselling. — Thomas A. Angerpointner
Alimentary Tract A novel approach for preventing esophageal stricture formation: sphingosylphosphorylcholine-enhanced tissue remodelling Yagmurlu A, Aksu B, Bingol-Kologlu M, et al. Pediatr Surg Int 2004 (October);20:778-782. Caustic injuries to the esophagus are still common in children of some areas of the world. Stricture formation is an important complication and difficult to treat. Sphingolipid metabolites are a new class of intracellular 2nd messengers involved in cell growth regulation and signal transduction. Especially sphingosylphosphorylcholine (SPC) stimulates cell proliferation
and DNA synthesis. The study was designed to evaluate the effect of SPC on stricture formation in the rat esophagus following caustic injury. A caustic esophageal injury was produced by the application of 15% NaOH under intraluminal pressure of 10 cm H2O for 2 min in an isolated esophageal segment of twenty Wistar rats. Ten rats were treated with 2 AM/ml SPC once daily for seven days; 10 animals received isotonic saline instead of SPC. Four weeks later contrast esophagograms were obtained, animals were sacrificed and the dimension of stenosis was defined as mild (good contrast passage), severe (prestenotic dilatation) or luminal obstructed. The narrowest circumference was histopathologically evaluated for submucosal thickness and collagen accumulation. Eight of ten animals of the control group developed stenosis with a diameter of 1.03 F 0.07 mm vs. 20% of the SPC group with a diameter of 1.33 F 0.07 mm ( P b 0.05). In the SPC group complete epithelial regeneration was found, only mild submucosal collagen content was described, and only 50% revealed an injury to the muscularis mucosae with mild collagen accumulation in 2/10. Epithelial regeneration was poor in the control group with a markedly thickened submucosa in 9/10 animals, and a marked (5/10) or mild (5/10) collagen fiber accumulation replaced muscle fibers. Attempts to control esophageal wound healing pharmacologically and to prevent stricture formation were never brought into clinical practice. SPC, known to improve full thickness incisional wound healing without loss of wound strength, induces the release of arachidonic acid, indicating mitogenic stimulation. SPC application in this animal experiment improved wound healing and reduced stricture formation. Acceleration of tissue repair and tissue remodelling were achieved. Cell activation occurring during normal wound healing was stimulated earlier and more profoundly. The authors announce further studies with evaluations of the effect of SPC in combination with growth factors and pharmacological agents. — Peter Schmittenbecher
A standardised protocol for the acute management of corrosive ingestion in children Baskin D, Urganci N, Abbasoglu L, et al. Pediatr Surg Int 2004 (November);20:824-828. The number of cases of corrosive oesophagitis has increased, especially in families of low educational level and economic status. Oesophageal burns may result in stricture formation. The authors analysed in a prospective study whether an attempt to prevent infection of the oesophageal wall decreases the incidence of stricture formation. Over a 6 year period 118 patients were treated. The patients were given nothing by mouth, iv fluids, a broad-spectrum antibiotics, iv ranitidine and a single-dose steroid to decrease edema. Oesophagoscopy was performed within 24-48 hours. Patients with an endoscopic grade 1 (edema and hyperaemia) were discharged without further therapy, patients with grade 2a (erosions, membranes, superficial ulcers) received oral anaerobic antibiotics, proton pump inhibitor and soft foods for 3 weeks. Grade 2b patients (deep discrete or circumferential ulcerations) and grade 3 patients (areas of necrosis) were hospitalised and given total parenteral nutrition for a week, followed by liquid foods. Anaerobic antibiotics and proton pump inhibitors were added intravenously for one and orally for two further weeks. At the end of the third week a barium meal was administered in all grade 2 and 3 patients, and in case of stricture formation dilatation was performed every 2 weeks. In perforation or intractable strictures a feeding gastrostomy was performed. Eighty-one children (mean age of 4 years) with complete data were analysed. Thirty-seven had acid, 32 alkali and 12 other corrosive ingestions. On oesophagoscopy 9 had a normal oesophagus, 24 had grade 1, 21 had grade 2a, 23 had grade 2b and 3 grade 3 burn. One grade 2a, six grade 2b and one grade 3 developed stricture at around three weeks, two of them after acid ingestion, 4 after alkali and 2 after other ingestion. Four children received a gastrostomy; three of these had an oesophageal perforation during dilatation. Presence and degree of oral burns were not predictive for the presence and the degree of the oesophageal burn. The authors propose that early
International Abstracts
the unexpected findings in Queensland. Pediatric surgeons may have an important role in guiding the resuscitation and management of injured children, even when there are no abdominal injuries. — A.J.A. Holland
OK-432 and lymphatic malformations in children: the Starship Children’s Hospital experience Wheeler JS, Morreau P, Mahadevan M, et al. Aust N Z J Surg 2004 (October);74:855-858. This retrospective review sought to evaluate the outcome of sclerotherapy for 7 children between 6 months and 5 years of age with cystic hygromas treated at a paediatric teaching hospital in New Zealand between 1999 and 2002. OK-432, an inactivated form of Streptococcus pyogenes, was administered in a dose of 0.1 mg in 10 mL of normal saline after aspirating a similar volume from the malformation under ultrasound guidance. Four of the lesions were in the axilla, with the remaining 3 in the head and neck area. All procedures were performed under general anaesthesia as a day-case, although one patient was re-admitted with a fever of 38 8C. Duration of review varied from 2 weeks to 24 months. The majority of patients responded to treatment within 2 weeks, although all but 2 patients required between 2 and 7 treatment episodes. The authors observed that the macrocystic component appeared to involute in all lesions but in at least 3 patients further surgical intervention was required or planned for a persisting microcystic component. The authors concluded that OK-432 treatment appeared to be a safe and effective treatment for the macrocystic component of lymphatic malformations, with the additional benefit of avoiding the potential sequelae of surgical excision in a proportion of patients. — A.J.A. Holland
Head and Neck Management of patients with hereditary medullary thyroid carcinoma Fitze G. Eur J Pediatr Surg 2004 (December);14:375-383. The heredity of medullary thyroid carcinoma within MEN2 syndrome is caused by heterozygous germline mutations in the RET-proto-oncogene. Since MEN2-associated mutations involve only hot spots, the molecular genetic analysis of the RET-proto-oncogene constitutes the perfect tool for the diagnosis of MEN2, thus being considered the standard method. The molecular genetic screening for MEN2-associated RET germline mutations should be carried out in all patients with an apparently sporadic medullary thyroid carcinoma or pheochromocytoma. This testing needs to include exons 10, 11, and 13 to 16 of the RET-proto-oncogene. Such investigations are aimed at identifying an index person of a new MEN2 family. The detection of such a RET-germline mutation is the basis for predictive molecular genetic testing within an affected family, and allows the exclusion or identification of gene carriers. For those family members at risk, prophylactic total thyroidectomy is recommended as a curative procedure, according to a risk-adapted, genetically based treatment algorithm. The management of such affected families should always by complemented by oncological and genetic counselling. — Thomas A. Angerpointner
Alimentary Tract A novel approach for preventing esophageal stricture formation: sphingosylphosphorylcholine-enhanced tissue remodelling Yagmurlu A, Aksu B, Bingol-Kologlu M, et al. Pediatr Surg Int 2004 (October);20:778-782. Caustic injuries to the esophagus are still common in children of some areas of the world. Stricture formation is an important complication and difficult to treat. Sphingolipid metabolites are a new class of intracellular 2nd messengers involved in cell growth regulation and signal transduction. Especially sphingosylphosphorylcholine (SPC) stimulates cell proliferation
and DNA synthesis. The study was designed to evaluate the effect of SPC on stricture formation in the rat esophagus following caustic injury. A caustic esophageal injury was produced by the application of 15% NaOH under intraluminal pressure of 10 cm H2O for 2 min in an isolated esophageal segment of twenty Wistar rats. Ten rats were treated with 2 AM/ml SPC once daily for seven days; 10 animals received isotonic saline instead of SPC. Four weeks later contrast esophagograms were obtained, animals were sacrificed and the dimension of stenosis was defined as mild (good contrast passage), severe (prestenotic dilatation) or luminal obstructed. The narrowest circumference was histopathologically evaluated for submucosal thickness and collagen accumulation. Eight of ten animals of the control group developed stenosis with a diameter of 1.03 F 0.07 mm vs. 20% of the SPC group with a diameter of 1.33 F 0.07 mm ( P b 0.05). In the SPC group complete epithelial regeneration was found, only mild submucosal collagen content was described, and only 50% revealed an injury to the muscularis mucosae with mild collagen accumulation in 2/10. Epithelial regeneration was poor in the control group with a markedly thickened submucosa in 9/10 animals, and a marked (5/10) or mild (5/10) collagen fiber accumulation replaced muscle fibers. Attempts to control esophageal wound healing pharmacologically and to prevent stricture formation were never brought into clinical practice. SPC, known to improve full thickness incisional wound healing without loss of wound strength, induces the release of arachidonic acid, indicating mitogenic stimulation. SPC application in this animal experiment improved wound healing and reduced stricture formation. Acceleration of tissue repair and tissue remodelling were achieved. Cell activation occurring during normal wound healing was stimulated earlier and more profoundly. The authors announce further studies with evaluations of the effect of SPC in combination with growth factors and pharmacological agents. — Peter Schmittenbecher
A standardised protocol for the acute management of corrosive ingestion in children Baskin D, Urganci N, Abbasoglu L, et al. Pediatr Surg Int 2004 (November);20:824-828. The number of cases of corrosive oesophagitis has increased, especially in families of low educational level and economic status. Oesophageal burns may result in stricture formation. The authors analysed in a prospective study whether an attempt to prevent infection of the oesophageal wall decreases the incidence of stricture formation. Over a 6 year period 118 patients were treated. The patients were given nothing by mouth, iv fluids, a broad-spectrum antibiotics, iv ranitidine and a single-dose steroid to decrease edema. Oesophagoscopy was performed within 24-48 hours. Patients with an endoscopic grade 1 (edema and hyperaemia) were discharged without further therapy, patients with grade 2a (erosions, membranes, superficial ulcers) received oral anaerobic antibiotics, proton pump inhibitor and soft foods for 3 weeks. Grade 2b patients (deep discrete or circumferential ulcerations) and grade 3 patients (areas of necrosis) were hospitalised and given total parenteral nutrition for a week, followed by liquid foods. Anaerobic antibiotics and proton pump inhibitors were added intravenously for one and orally for two further weeks. At the end of the third week a barium meal was administered in all grade 2 and 3 patients, and in case of stricture formation dilatation was performed every 2 weeks. In perforation or intractable strictures a feeding gastrostomy was performed. Eighty-one children (mean age of 4 years) with complete data were analysed. Thirty-seven had acid, 32 alkali and 12 other corrosive ingestions. On oesophagoscopy 9 had a normal oesophagus, 24 had grade 1, 21 had grade 2a, 23 had grade 2b and 3 grade 3 burn. One grade 2a, six grade 2b and one grade 3 developed stricture at around three weeks, two of them after acid ingestion, 4 after alkali and 2 after other ingestion. Four children received a gastrostomy; three of these had an oesophageal perforation during dilatation. Presence and degree of oral burns were not predictive for the presence and the degree of the oesophageal burn. The authors propose that early