Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.

http://science.sciencemag.org/content/sci/287/5454/848.full.pdf

Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Laser-tissue interactions

https://iopscience.iop.org/article/10.1088/0031-9155/35/9/001/pdf

Physics of thermal processes in laser-tissue interaction

Objective To investigate the natural history of the triad of gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma, a rare syndrome of unknown cause primarily affecting young women. Methods Mayo Clinic records, the world literature, and the author's files were searched for patients with all or 2 of the 3 tumors. Results Seventy-nine patients, 67 women and 12 men, were identified, 17 (22%) with the 3 tumors and 62 (78%) with 2 tumors. Forty-two (53%) had gastric and pulmonary tumors, the most common combination. The longest interval between detection of the first and second components was 26 years (mean, 8.4 years; median, 6 years). Follow-up ranged from 1 year to 49 years (mean, 20.6 years; median, 20 years). Sixty-four patients (81%) were alive, 19 (24%) apparently free of disease and 45 (57%) with residual or metastatic tumors. Thirty-two patients (41%) had 1 or more local recurrences of the gastric sarcoma; the longest interval to first recurrence was 36 years. Twenty-one survivors (27%) had hepatic metastatic gastric sarcoma with follow-up of 1 year to 25 years (mean, 9.3 years; median, 7 years). Fifteen patients (19%) were dead, 10 (13%) of whom died of the disorder. Ten patients (13%) had nonfunctioning adrenocortical tumors. Two patients each had a sibling with 1 component of the triad. Conclusions The triad is a chronic, persistent, and indolent disease. Benign adrenocortical tumors are a component of the condition. The disorder may be familial.

Gastric Stromal Sarcoma, Pulmonary Chondroma, and Extra-adrenal Paraganglioma (Carney Triad): Natural History, Adrenocortical Component, and Possible Familial Occurrence

Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.

Genomic Imprinting: Implications for Human Disease

The sequence of histological change induced by CO2 laser irradiation was discussed in terms of two factors: the physiomechanical factor and the physiochemical factor. At sufficiently high heat energy levels, the immediate findings are characterized by crater formation resulting from rapid vaporization of the water and ejection of the solid component. In the immediate vicinity of the crater edge, the maximum tissue temperature rise is 65 degrees C above the 32 degrees C ambient tissue temperature and it decreases to the primary tissue temperature within a distance of 2 mm. The healing process of CO2 laser induced lesions proceeds with minimal delay. The lymphatic and vascular channels are occluded in the marginal area of coagulation resulting in a marked hemostatic effect. This sealing effect increases the margin of safety in preventing possible dissemination of tumor cells. By selecting the appropriate power, time, and focus cone angle, precise destruction of preselected areas of tissue can be achieved with an extraordinary hemostatic effect without damaging the underlying tissue. These advantages are especially helpful in function-preserving surgery.

Laser surgery in otolaryngology: interaction of co2 laser and soft tissue

Summary The conventional management of certain problems in the aerodigestive tract has been either inconvenient or ineffective. Seventy-five cases have been treated with the continuous wave CO 2 laser in an attempt to identify the advantages and limitations of laser surgery. It has been found that the CO 2 laser provides a practical method of tissue ablation or excision which can be carried out with excellent control. The laser beam is directed with a handpiece in the oral cavity, with the surgical microscopic laser attachment in the nose, pharynx, and larynx, and with the endoscope-bronchoscope assembly in the tracheobronchial tree. Laser surgery appears to be most valuable when precise surgery is needed to preserve function.

Laser surgery in the aerodigestive tract

The CO2 laser has been found to be a useful adjunct in our efforts to treat laryngeal carcinoma. Utilized endoscopically, it has been of help in establishing the proper staging, in diagnosing recurrence after radiation therapy, in reestablishing airways blocked with tumor, in debulking tumor mass prior to radiation and/or chemotherapy, and as a primary mode of excisional therapy, all accomplished with minimal morbidity. Most patients may return home the first postoperative day, eating, with serviceable voice, and requiring no tracheotomy or analgesics, all of which provide a significant cost benefit.

Laryngeal carcinoma: transoral treatment utilizing the CO2 laser.

Since 1972 we have been cautiously exploring the use of CO2 laser in the management of carefully selected cases of localized carcinoma of the oral cavity. At the present time our experience is based on the treatment of 57 patients with cancer of the oral cavity.



The CO2 laser has been found to be an indispensable tool in the transoral management of T1 carcinomas, multiple superficial carcinoma, extensive leukoplakia and verrucous carcinoma. The laser allows precise excision of the lesion and involved mucosa and provides an excellent specimen for histologic verification of the margins.



The morbidity of laser excision is minimal, so that a tracheotomy is not needed and patients can almost always be discharged on the following day. (Follow-up data on those patients at risk for 30 months indicate excellent control rates.)

Transoral management of localized carcinoma of the oral cavity using the CO2 laser.

The CO2 laser was first Introduced for surgery of the aerodigestive tract in 1971. Since that time, great advances in application have been made in both the adult and pediatric population. Recent r...

Geza J. Jako

Papers

Laser surgery in otolaryngology: interaction of co2 laser and soft tissue

Laser surgery in the aerodigestive tract

Laryngeal carcinoma: transoral treatment utilizing the CO2 laser.

Transoral management of localized carcinoma of the oral cavity using the CO2 laser.

Complications of CO2 laser surgery of the aerodigestive tract: experience of 4416 cases.