Poor prognostic factors in human papillomavirus-positive head and neck cancer: who might not be candidates for de-escalation treatment?

BACKGROUND/AIMS@#Since patients with human papillomavirus (HPV)-associated head and neck squamous cell carcinoma (HNSCC) have favorable outcomes after treatment, treatment de-escalation for these patients is being actively investigated. However, not all HPV-positive HNSCCs are curable, and some patients have a poor prognosis. The purpose of this study was to identify poor prognostic factors in patients with HPV-positive HNSCC.@*METHODS@#Patients who received a diagnosis of HNSCC and tested positive for HPV from 2000 to 2015 at a single hospital site (n = 152) were included in this retrospective analysis. HPV typing was conducted using the HPV DNA chip assay or liquid bead microarray system. Expression of p16 in the tumors was assessed by immunohistochemistry. To determine candidate factors associated with overall survival (OS), univariate and multivariable Cox regression analyses were performed.@*RESULTS@#A total of 152 patients with HPV-positive HNSCC were included in this study; 82.2% were male, 43.4% were current or former smokers, and 84.2% had oropharyngeal cancer. By univariate analysis, old age, performance status ≥ 1, non-oropharyngeal location, advanced T classification (T3–4), and HPV genotype 18 were significantly associated with poor OS. By multivariable analysis, performance status ≥ 1 and non-oropharyngeal location were independently associated with shorter OS (hazard ratio [HR], 4.36, p = 0.015; HR, 11.83, p = 0.002, respectively). Furthermore, HPV genotype 18 positivity was also an independent poor prognostic factor of OS (HR, 10.87, p < 0.001).@*CONCLUSIONS@#Non-oropharyngeal cancer, poor performance status, and HPV genotype 18 were independent poor prognostic factors in patients with HPV-positive HNSCC. Patients with these risk factors might not be candidates for de-escalation treatment.

Sentinel Lymph Node Centered Selective Neck Dissection Does Not Have Benefits Over Supraomohyoid Neck Dissection in Patients with cT1T2N0 Tongue Cancer / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: This study aimed to evaluate the clinical efficacy of sentinel node centered selective neck dissection in patients with early stage tongue cancer (T1T2N0). SUBJECTS AND METHOD: Lymphoscintigraphy was performed for 12 patients, subsequently followed by sentinel node centered selective neck dissection. The location of the sentinel node, pathological confirmation of node metastasis, and follow-up recurrence were analyzed. RESULTS: In total, 19 sentinel lymph nodes were identified. Of these, 18 were located in levels I to III, and one in level IV. After surgery, 3 patients (25%) were diagnosed with neck node metastasis: two experienced sentinel node metastasis and one experienced skipped metastasis. During follow-up, 3 of the 12 patients (25%) experienced recurrence. CONCLUSION: The recurrence of lymph node could be covered with supraomohyoid neck dissection, which indicates that it has superiority over sentinel node centered selective neck dissection in preventing recurrence in T1T2N0 tongue cancer patients.

Comparison of the Clinical Outcomes of Patients with Squamous Cell Carcinoma of the Tonsil Receiving Postoperative Ipsilateral Versus Bilateral Neck Radiotherapy: A Propensity Score Matching Analysis (KROG 11-07) / Journal of the Korean Cancer Association, 대한암학회지

@#PURPOSE: The impact of postoperative ipsilateral neck radiotherapy (INRT) versus bilateral neck radiotherapy (BNRT) on the clinical outcomes of patients with tonsillar squamous cell carcinoma was analyzed retrospectively. MATERIALS AND METHODS: Between October 2001 and June 2012, 241 patients with T1-2 and N0-N2b tonsillar carcinoma from 16 institutes underwent postoperative INRT (n=84) or BNRT (n=157) following a tonsillectomy. Seventy patients were identified from each group by propensity score matching and compared in terms of the overall survival (OS), disease-free survival (DFS), locoregional relapse-free survival (LRRFS), and distant metastasis-free survival (DMFS) rates calculated using the Kaplan-Meier method with a log-rank test. RESULTS: The median follow-up was 55 months (range, 3 to 133 months). The survival outcomes in the INRT and BNRT groups were similar: 5-year OS (92.8% vs. 94.0%, p=0.985), DFS (80.5% vs. 94.2%. p=0.085), LRRFS (88.1% vs. 97.1%, p=0.083), and DMFS (92.7% vs. 97.0%, p=0.370). Subgroup analysis revealed no contralateral neck recurrence in 61 patients with T1-2N0-2a regardless of the treatment groups. For 79 patients with N2b, contralateral neck recurrence was more common in the INRT group than in the BNRT group (7.9% vs. 0.0%), but the difference was not significant (p=0.107). The overall grade ≥ 2 toxicities were lower in the INRT group: acute (45.7% vs. 74.3%, p=0.001) and late (4.3% vs. 31.4%, p < 0.001), respectively. CONCLUSION: INRT is an attractive strategy for patients with T1-2N0-2a tonsillar carcinoma compared to BNRT. For patients with N2b, there was a small risk of contralateral neck recurrence when treated with INRT, but its impact on the OS was limited with successful salvage treatment.

Exploratory Study on Guide Wire-Guided Tongue Resection under Ultrasonography for Adequate Safe Margins in Tongue Cancer Surgery / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The adequate safety margin in tongue cancer is the most important prognostic factor for local recurrence and survival. This study aimed to evaluate the resection margins using a new technique of tongue resection under the guidance of guide wire under ultrasonography in patients with tongue cancer. SUBJECTS AND METHOD: In this prospective study, 10 patients with presurgical, biopsy-proven, clinical T1 or T2 tongue squamous cell carcinomas underwent resection under the guidance of guide wire inserted using ultrasonography. The data of resection margins of 37 patients who underwent partial glossectomy using the conventional method of palpation were used as control data. RESULTS: The mean safety margins (mm) of the experimental group were 7.59±4.30 (anterior), 8.56±4.69 (posterior), 5.25±3.01 (superior), 5.93±3.66 (inferior), 13.00±13.29 (medial), 5.78±2.64 (deep), and 6.67±3.06 (lateral). There were no differences in the safety margins between the two groups. CONCLUSION: Using guide wire under ultrasonography was not superior to the conventional method for partial glossectomy for having adequate resection margins.

Is There Any Age Cutoff to Treat Elderly Patients with Head and Neck Cancer? Comparing with Septuagenarians and Octogenarians

With the increase in life expectancy, age is no longer considered as a limitation for treatment. Nevertheless, the treatment of elderly patients with head and neck cancer (HNC) remains controversial. Here, we aimed to review our experience with the treatment for elderly patients, while particularly focusing on the differences among older old patients (septuagenarians vs. octogenarians). We retrospectively reviewed the records of 260 elderly patients who were assigned to 3 groups according to age: 70 years old ≤ group 1 < 75 years old, 75 years old ≤ group 2 < 80 years old, and group 3 ≥ 80 years old. The patients were assessed for comorbidities using the Adult Comorbidity Evaluation (ACE)-27, and the American Society of Anesthesia (ASA) physical status was also compared. Group 1, 2, and 3, consisted of 97, 102, and 61 patients, respectively. No significant difference in demographic data was noted among the groups. However, group 3 showed more comorbidities than groups 1 and 2. With regard to the initial treatment for HNC, radiation therapy (RT) was more frequently performed in group 3 than in groups 1 and 2. Among 7 patients of non-compliant to treatment in group 3, 6 patients had have performed RT. In group 3, a total of 18 patients underwent surgery, including microvascular free flap reconstruction and no significant difference in complications was observed postoperatively compared with group 1 and 2. Moreover, no significant difference was noted in overall survival between the groups, regardless of the treatment modality chosen. In conclusion, octogenarians with HNC should be more carefully managed than septuagenarians with HNC. Surgical treatment can be considered in octogenarians with HNC, if it can be tolerated.

Is There Any Age Cutoff to Treat Elderly Patients with Head and Neck Cancer? Comparing with Septuagenarians and Octogenarians

With the increase in life expectancy, age is no longer considered as a limitation for treatment. Nevertheless, the treatment of elderly patients with head and neck cancer (HNC) remains controversial. Here, we aimed to review our experience with the treatment for elderly patients, while particularly focusing on the differences among older old patients (septuagenarians vs. octogenarians). We retrospectively reviewed the records of 260 elderly patients who were assigned to 3 groups according to age: 70 years old ≤ group 1 < 75 years old, 75 years old ≤ group 2 < 80 years old, and group 3 ≥ 80 years old. The patients were assessed for comorbidities using the Adult Comorbidity Evaluation (ACE)-27, and the American Society of Anesthesia (ASA) physical status was also compared. Group 1, 2, and 3, consisted of 97, 102, and 61 patients, respectively. No significant difference in demographic data was noted among the groups. However, group 3 showed more comorbidities than groups 1 and 2. With regard to the initial treatment for HNC, radiation therapy (RT) was more frequently performed in group 3 than in groups 1 and 2. Among 7 patients of non-compliant to treatment in group 3, 6 patients had have performed RT. In group 3, a total of 18 patients underwent surgery, including microvascular free flap reconstruction and no significant difference in complications was observed postoperatively compared with group 1 and 2. Moreover, no significant difference was noted in overall survival between the groups, regardless of the treatment modality chosen. In conclusion, octogenarians with HNC should be more carefully managed than septuagenarians with HNC. Surgical treatment can be considered in octogenarians with HNC, if it can be tolerated.

VEGF and Ki-67 Overexpression in Predicting Poor Overall Survival in Adenoid Cystic Carcinoma / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study was to evaluate potential prognostic factors in patients with adenoid cystic carcinoma (ACC). MATERIALS AND METHODS: A total of 68 patients who underwent curative surgery and had available tissue were enrolled in this study. Their medical records and pathologic slides were reviewed and immunohistochemistry for basic fibroblast growth factor, fibroblast growth factor receptor (FGFR) 2, FGFR3, c-kit, Myb proto-oncogene protein, platelet-derived growth factor receptor beta, vascular endothelial growth factor (VEGF), and Ki-67 was performed. Univariate and multivariate analysis was performed for determination of disease-free survival (DFS) and overall survival (OS). RESULTS: In univariate analyses, primary site of nasal cavity and paranasal sinus (p=0.022) and Ki-67 expression of more than 7% (p=0.001) were statistically significant factors for poor DFS. Regarding OS, perineural invasion (p=0.032), high expression of VEGF (p=0.033), and high expression of Ki-67 (p=0.007) were poor prognostic factors. In multivariate analyses, primary site of nasal cavity and paranasal sinus (p=0.028) and high expression of Ki-67 (p=0.004) were independent risk factors for poor DFS, and high expression of VEGF (p=0.011) and Ki-67 (p=0.011) showed independent association with poor OS. CONCLUSION: High expression of VEGF and Ki-67 were independent poor prognostic factors for OS in ACC.

Activation of K+ channel by 1-EBIO rescues the head and neck squamous cell carcinoma cells from Ca2+ ionophore-induced cell death

Ion channels in carcinoma and their roles in cell proliferation are drawing attention. Intracellular Ca2+ ([Ca2+]i)-dependent signaling affects the fate of cancer cells. Here we investigate the role of Ca(2+)-activated K+ channel (SK4) in head and neck squamous cell carcinoma cells (HNSCCs) of different cell lines; SNU-1076, OSC-19 and HN5. Treatment with 1 microM ionomycin induced cell death in all the three cell lines. Whole-cell patch clamp study suggested common expressions of Ca(2+)-activated Cl- channels (Ano-1) and Ca(2+)-activated nonselective cation channels (CAN). 1-EBIO, an activator of SK4, induced outward K+ current (ISK4) in SNU-1076 and OSC-19. In HN5, ISK4 was not observed or negligible. The 1-EBIO-induced current was abolished by TRAM-34, a selective SK4 blocker. Interestingly, the ionomycin-induced cell death was effectively prevented by 1-EBIO in SNU-1076 and OSC-19, and the rescue effect was annihilated by combined TRAM-34. Consistent with the lower level of ISK4, the rescue by 1-EBIO was least effective in HN5. The results newly demonstrate the role of SK4 in the fate of HNSCCs under the Ca2+ overloaded condition. Pharmacological modulation of SK4 might provide an intriguing novel tool for the anti-cancer strategy in HNSCC.

Induction chemotherapy in head and neck squamous cell carcinoma of the paranasal sinus and nasal cavity: a role in organ preservation

BACKGROUND/AIMS: The role of induction chemotherapy (IC) for eyeball preservation has not been established in head and neck squamous cell carcinoma (HNSCC) of the paranasal sinus and nasal cavity (PNSNC). Periorbital involvement frequently leads to eyeball exenteration with a margin of safety. We evaluated the treatment outcomes, including survival and eyeball preservation, of patients who received IC for HNSCC of the PNSNC. METHODS: We reviewed 21 patients diagnosed with HNSCC of the PNSNC who were treated with IC. We analyzed response, eyeball preservation rate, and overall survival. RESULTS: Tumors were located in the paranasal sinus (n = 14) or nasal cavity (n = 7). Most patients had stage T4a (n = 10) or T4b (n = 7) disease. More than half of the patients received a chemotherapy regimen of docetaxel, fluorouracil, and cisplatin (n = 11). Thirteen patients (61.9%) achieved a partial response after IC and 15 patients (71.4%) achieved T down-staging. Among 17 patients with stage T4 disease, which confers a high risk of orbital exenteration, 14 (82.4%) achieved preservation of the involved eye. The 3-year overall survival (OS) rate of patients who achieved a partial response to IC was 84.6%. The 3-year OS rate of patients with stable disease or disease progression after IC was 25.0% (p = 0.038). CONCLUSIONS: IC could be considered for down-staging patients with advanced T-stage disease. It could also be a reasonable option for eyeball preservation in locally advanced HNSCC of the PNSNC.

Long-Term Outcome of Definitive Radiotherapy for Early Glottic Cancer: Prognostic Factors and Patterns of Local Failure / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: This study evaluates the long-term results of definitive radiotherapy (RT) for early glottic cancer. Clinical and treatment factors related to local control and patterns of failure are analyzed. MATERIALS AND METHODS: We retrospectively reviewed 222 patients with T1-2N0 squamous cell carcinoma of the glottic larynx treated with definitive RT from 1981 to 2010. None of the patients received elective nodal RT or combined chemotherapy. The median total RT dose was 66 Gy. The daily fraction size was < 2.5 Gy in 69% and 2.5 Gy in 31% of patients. The RT field extended from the hyoid bone to the cricoid cartilage. RESULTS: The median age was 60 years, and 155 patients (70%) had T1 disease. The 5-year rates of local recurrence-free survival (LRFS) and ultimate LRFS with voice preservation were 87.8% and 90.3%, respectively. T2 (hazard ratio [HR], 2.30; 95% confidence interval [CI], 1.08 to 4.94) and anterior commissural involvement (HR, 3.37; 95% CI, 1.62 to 7.02) were significant prognostic factors for LRFS. In 34 patients with local recurrence, tumors recurred in the ipsilateral vocal cord in 28 patients. There were no contralateral vocal cord recurrences. Most acute complications included grade 1-2 dysphagia and/or hoarseness. There was no grade 3 or greater chronic toxicity. CONCLUSION: Definitive RT achieved a high cure rate, voice preservation, and tolerable toxicity in early glottic cancer. T2 stage and anterior commissural involvement were prognostic factors for local control. Further optimization of the RT method is needed to reduce the risk of ipsilateral tumor recurrence.

A Case of Tracheal Foreign Body Removed by Endoscopic Approach with Tracheotomy / 대한이비인후과학회지

Foreign body (FB) airway obstruction is a life-threatening clinical situation. The FB's are removed by bronchoscopy in the majority of patients, but in highly-selected cases, tracheotomy is occasionally indicated in foreign body extraction, when they are subglottic in location and impacted, or large enough to get obstructed at the glottic chink during endoscopic removal. Authors report one case of tracheal FB which required tracheotomy for the FB removal after the failure of FB removal with rigid bronchoscopy.

A Convenient and Less Invasive Technique of Labial Minor Salivary Gland Biopsy Using a Minimal Incision With a Needle Tip

OBJECTIVES: This study was to show the technique and to compare the usefulness and complications of biopsy using a minimal incision with a needle tip of the labial minor salivary glands with those of conventional incisional lip biopsy in the diagnosis of Sjogren's syndrome. METHODS: We retrospectively reviewed the medical records of the patients who had the labial minor salivary gland biopsy for the diagnosis of Sjogren's syndrome between January 2005 and December 2008. One hundred forty-three patients were enrolled in this study. The yields of diagnostic salivary tissues and complications of the biopsy using a minimal incision with a needle tip and the conventional incisional lip biopsy were compared. RESULTS: Out of 143 patients, 56 patients underwent the conventional incisional lip biopsy and 87 patients received the biopsy using a minimal incision with a needle tip. In the biopsy using a minimal incision with a needle tip group, adequate salivary gland tissues were obtained in 85 patients out of 87 patients (97.7%). In the conventional incisional lip biopsy group, adequate specimens were acquired in 44 patients out of 56 patients (78.6%). There was no complication after the biopsy using a minimal incision with a needle tip, whereas there was one patient complained transient numbness of the lip after the conventional incisional lip biopsy. CONCLUSION: The less invasive labial minor salivary gland biopsy using a minimal incision with a needle tip was easy to perform and safe and showed the better result than the conventional incisional lip biopsy in terms of the adequate specimen in the diagnosis of Sjogren's syndrome. So it might be a good alternative to the conventional incisional lip biopsy.

Reconstruction of Maxilla and Midface with Microvascular Free Flaps / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The aim of this study is to report the clinical results of maxillary reconstruction with free flap. SUBJECTS AND METHOD: Patients who had undergone free flap reconstruction after maxillectomy from January 2009 to January 2013 were included in the study. The medical records of the maxillary defect classification, the type of flap used for reconstruction, follow-up results including the survival rate of flap and postoperative complications were analyzed retrospectively. RESULTS: A total of 13 cases underwent maxillary reconstruction after maxillectomy. Maxillary resection were classified from Ia to V according to the Brown classlification system, and various composite flaps including rectus abdominis, latissimus dorsi, radial forearm and iliac crest were used. One case (class Ia) was reconstructed with a radial forearm free flap while six cases (classes II, III) were reconstructed with the osteomuscular free flap type, such as iliac crest. Another six cases needed orbital exenteration (class IV, V) and were reconstructed with a soft tissue free flap type, such as a rectus abdominis or latissimus dorsi. Of the 13 cases, four patients had postoperative wound dehiscence and two had preoperative radiotherapy. In all 13 cases, the flaps survived. CONCLUSION: Maxillary reconstructions were performed successfully with various free flaps according to the extent of maxillary defect.

Patterns of Regional Metastasis in Patients with Periorbital Cancer / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: To identify patterns of regional metastasis according to primary tumor location in patients with malignant periorbital tumor. SUBJECTS AND METHOD: We retrospectively reviewed the medical records of the patients diagnosed with periorbital malignant tumors between 1997 and 2008. We analyzed demographic data, pathologic diagnosis, primary tumor location, lymph node metastasis and recurrences. RESULTS: Ninety-five patients with periorbital cancer were reviewed. Amongst them, 16 patients (M : F=7 : 9, mean age: 57.0 years) had regional metastasis. The follow-up duration of 16 patients was 46.2 months on the average. Nine tumors were located in the medial half, two tumors in the lateral half and five tumors in both halves. The parotid gland was the most common regional metastatic site regardless of primary tumor location, and whether or not medially located. CONCLUSION: The parotid gland lymph node group is crucial for medially located periorbital tumor as well as for laterally located one. Once a malignant periorbital tumor is diagnosed, the whole cervical and parotid lymph nodes should be evaluated carefully.

Follicular Thyroid Carcinoma Presenting as Bilateral Cheek Masses

Mandibular metastasis of thyroid carcinoma is extremely rare. We present the case of a 46-year-old woman who had bilateral huge cheek masses that had grown rapidly over several years. Intra-oral mucosal tissue biopsy and imaging work-up including computed tomography scan and magnetic resonance imaging were performed and the initial diagnosis was presumed to be central giant cell granuloma. Incidentally detected thyroid lesions were studied with ultra-sonography guided fine needle aspiration and diagnosed as simple benign nodules. Due to continuous oral bleeding and the locally destructive feature of the lesions, we decided to excise the mass surgically. To avoid functional deficit, a stepwise approach was performed: Firstly, the larger left mass was excised and the mandible was reconstructed with a fibular free flap. The final pathologic diagnosis was follicular thyroid cancer. Postoperative I-131 thyroid scan and whole body positron-emissions-tomography were performed. Right side mass was revealed as a thyroid malignancy. Multiple bony metastases were detected. Since further radioactive iodine therapy was required, additional total thyroidectomy and right side mandibulectomy with fibular free flap reconstruction was performed. The patient also underwent high dose radioactive iodine therapy and palliative extra-beam radiotherapy for the metastatic lumbar lesion. Follicular thyroid carcinoma should be considered as a differential diagnosis for mandibular mass lesions.

Comparison of Pharmacological Treatments for Burning Mouth Syndrome / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Burning mouth syndrome (BMS) refers to a collection of symptoms of patients who complain about burning sensation of their mouths without any specific causes. Although this is not a rare disease, the etiology and effective treatment are not well established. We tried to compare the efficacy and side effects of the agents that are reported to be relatively effective to BMS. SUBJECTS AND METHOD: Fifty-one patients who were diagnosed as BMS were chosen as candidates. Trazodone, Paroxetine, Clonazepam, and Gabapentin, which were known to be effective medicines for BMS in previous research were prescribed randomly. We prescribed medication for two weeks and evaluated patients for the effect and side effects at the end of the treatment. The medication was prescribed for 2 more weeks and the patients were evaluated again. RESULTS: Three of 11 (27.3%) patients were prescribed Trazodone, 8 of 12 (66.7%) Paroxetine, 8 of 14 (57.1%) Clonazepam and 12 of 14 (85.7%) Gabapentin. Q showed improvements after 4 weeks of medication. The differential effectiveness among the medications was not significant, except for the inferiority of Trazodone. Five of 11 (45.5%) patients who had been prescribed Trazodone, 2 of 12 (16.7%) who had been prescribed Paroxetine, 2 of 14 (14.3%) who had been prescribed Clonazepam, 2 of 14 (14.3%) who had been prescribed Gabapentin complained of side effects during 4 weeks of medication. CONCLUSION: We can expect high success rates of treatment for burning mouth syndrome with Paroxetine, Clonazepam and Gabapentin. A further study for long term outcomes and side effects in large groups is warranted.

Personalized Treatment of Head and Neck Cancers and the Role of Head and Neck Surgeons / 대한이비인후과학회지

Although patient and tumor characteristics remain essential for the diagnosis and management of the cancer, recent advances in molecular biology and genetics are making a paradigm shift in the methodology of personalized cancer therapy from clinical and pathological markers to gene mutations. Since cancers are basically genetic diseases and head and neck cancers are very complex, the treatment of the head and neck cancer should be benefited from the multidisciplinary team. As a key member of the team, the head and neck surgeon needs to know and update the concept of multidisciplinary team approach and the information on the personalized cancer therapy.

Definitive Radiotherapy versus Postoperative Radiotherapy for Tonsil Cancer / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study is to analyze treatment outcome of radiotherapy (RT) in patients with stage III-IV tonsil cancer managed by surgery followed by postoperative RT (SRT) and definitive chemoradiotherapy (CRT), and to thereby evaluate the most feasible treatment modality. MATERIALS AND METHODS: Of 124 patients, 67 underwent CRT, and 57 underwent SRT. We compared survival and complication rates in both groups. RESULTS: The median follow-up time was 57 months (range, 19 to 255 months) for surviving patients. At five years, locoregional progression-free survival (LRPFS) and overall survival (OS) were 88% and 80%, respectively. No significant difference in LRPFS (p=0.491) and OS (p=0.177) was observed between CRT and SRT. In multivariate analysis, old age and higher T stage showed a significant association with poor LRPFS, PFS, and OS; higher N stage showed an association with poor PFS and a trend of poor LRPFS, while no association with OS was observed; treatment modality (CRT and SRT) showed no association with LRFPS, PFS, and OS. Grade 3 or higher mucositis was observed in 12 patients (21%) in the SRT group, and 25 patients (37%) in the CRT group. CONCLUSION: Definitive CRT and SRT have similar treatment outcomes for patients with stage III-IV tonsil cancer. Although acute complication rate appears to be higher in the CRT group, it should be noted that not all data on complications were included in this retrospective study. To determine the most feasible treatment modality, not only mucositis and xerostomia, but also emotional aspect and quality of life, should be considered.

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.