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Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult

June 14, 2016  |  Marcin Fraczek, MD; Agnieszka Stembalska, MD; Pawel Karpinski, MD; Tomasz Krecicki, MD


We report the case of a 37-year-old man with human papillomavirus-positive squamous cell carcinoma of the larynx coexisting with chronic myelogenous leukemia. The patient had no history of smoking or alcohol consumption. Within a few months, his rapidly growing tumor was classified as T4aN2cM0. It could be assumed that the rapid increase in the tumor mass, which did not respond positively to treatment, might have been associated with the coexistence of the chronic myelogenous leukemia, which had been found incidentally. Genetic testing revealed the presence of insertion mutation 3020insC within the NOD2 gene, which might be an important genetic predisposing factor, not only for a single tumor such as laryngeal cancer, but also for multiple primary neoplasms. The presence of an NOD2 mutation could significantly worsen the course of the cancer. Therefore, given the relatively high frequency of 3020insC mutations in the general population, it might be reasonable to perform genetic testing on a wider scale for patients with head or neck cancer, particularly in cases that follow an atypical course. It is also worth emphasizing the importance of thorough and periodically repeated laryngeal examinations in patients with chronic leukemia.

Diagnosis and management of a tympanic membrane hemangioma

June 14, 2016  |  Glen Watson, MBBS, FRCS; Amanda McSorley, MBChB, BSc, MRCS; Vivek Kaushik, MBBS, FRCS, DLO


Vascular tumors arising in the temporal bone represent 0.7% of all lesions in this area. Hemangiomas confined to the tympanic membrane are exceptionally rare. We report a new case of tympanic membrane hemangioma that arose in 59-year-old man who presented with a 2-month history of constant right-sided pulsatile tinnitus and associated neck discomfort. The lesion and a cuff of healthy tympanic membrane were excised, and the resulting defect was repaired with a temporalis fascia graft. At 3 months, the neotympanum was well healed and the patient's symptoms had resolved. We also review the limited number of previously published cases of tympanic membrane hemangioma, and we discuss the presentation and management of these lesions. Some tympanic hemangiomas are asymptomatic and others present as hearing loss, tinnitus, otalgia, and/or otorrhea. Pure-tone audiometry and high-resolution computed tomography of the temporal bones are essential to determine the extent of the lesion. An excisional biopsy is recommended because it is curative and it provides histologic confirmation of the diagnosis. Excision requires elevation of a tympanomeatal flap, en bloc resection, and reconstruction of the tympanic membrane defect. Small lesions can be excised via a permeatal or endaural approach, while larger lesions require a postauricular approach.

Antibacterial effects of the povidone-iodine vacuum impregnation technique in expanded polytetrafluoroethylene augmentation rhinoplasty

June 14, 2016  |  Jung Min Lee; Joong Seob Lee, MD; Dong-Kyu Kim, MD, PhD; Jun Ho Lee, MD, PhD; Hae Sang Park, MD, PhD; Ho Jun Lee, MD; Sung Hee Bae, MD; Ji Su Jang, MD; Jae Jun Lee, MD; Chan Hum Park, MD, PhD


Expanded polytetrafluoroethylene (e-PTFE) is a popular graft material for augmentation rhinoplasty. Gore-Tex and Surgiform are two types of e-PTFE; Surgiform has thicker fibrils and is more compact than Gore-Tex. We conducted an ex vivo study to evaluate the ability of povidone-iodine (PVP-I) vacuum pretreatment to prevent infection with these two types of e-PTFE. Gore-Tex and Surgiform specimens were cut into 2-mm3 pieces, which were separated into two groups. One group for each e-PTFE was disinfected with vacuum PVP-I impregnation and the other group was not disinfected. Using the pieces of implant material, swabs were obtained from the nasal cavities of 20 healthy adults, and the specimens were incubated on agar plates and viewed by scanning electron microscopy (SEM). We found that PVP-I treatment significantly reduced the bacterial colony counts in both the Gore-Tex and Surgiform groups. In the SEM images, bacterial colonies were observed both inside and outside the untreated Gore-Tex; on the untreated Surgiform, they were found primarily on the surface. Few bacteria were detected in the PVP-I-treated Gore-Tex and Surgiform groups. Our findings suggest that PVP-I pretreatment can reduce the risk of infection associated with e-PTFE.

The Antia-Buch chondrocutaneous advancement flap for auricular reconstruction

June 14, 2016  |  Rohan Joshi, MD; Anthony P. Sclafani, MD, FACS

Helical defects pose a particular reconstructive dilemma because even small alterations in the helical contour can become very visible after healing.

A rare cause of conductive hearing loss: High lateralized jugular bulb with bony dehiscence

June 14, 2016  |  James G. Barr, MRCS(ENT), BSc, BM; Pranay K. Singh, MD, FRCS, (ORL-HNS)


We present a rare case of pediatric conductive hearing loss due to a high lateralized jugular bulb. An 8-year-old boy with a right-sided conductive hearing loss of 40 dB was found to have a pink bulge toward the inferior part of the right eardrum. Computed tomography showed a high, lateralized right jugular bulb that had a superolaterally pointing diverticulum that bulged into the lower mesotympanum and posterior external auditory meatus. It was explained to the child's parents that it is important never to put any sharp objects into the ears because of the risk of injury to the jugular vein. A high, lateralized jugular bulb with a diverticulum is a rare anatomic abnormality. Correct diagnosis of this abnormality is important so that inappropriate intervention does not occur.

p53 codon 72 polymorphism and its overexpression in patients with laryngeal carcinoma: Prognostic implications

June 14, 2016  |  Gopika Kalsotra, MD; Ashok K. Gupta, MD; Rijuneeta Gupta, MD; Ritu Rathi, PhD; Rajender Prasad, PhD


Abnormalities in the p53 gene are the most common genetic alterations seen in laryngeal carcinoma. No data exist regarding the association between laryngeal carcinoma and a distinct codon 72 variant and its expression. We conducted a prospective study (1) to analyze the p53 codon 72 polymorphic variants in patients with laryngeal carcinoma, (2) to analyze the expression of p53 mRNA in tissues of patients with laryngeal carcinoma using the reverse transcriptase-polymerase chain reaction (RT-PCR) assay, and (3) to detect p53 antibodies in the plasma of patients with laryngeal carcinoma before and after treatment. Tissue and blood samples were taken from 40 patients with laryngeal carcinoma-36 men and 4 women, aged 40 to 65 years (mean: 56)-and 20 age-matched controls with laryngeal conditions other than carcinoma. RT-PCR was used to measure p53 mRNA expression, and PCR-restriction fragment length polymorphism was used to determine p53 polymorphism. In addition, p53 antibodies were detected in plasma by Western blot testing. The 40 patients were treated with either surgery (total laryngectomy or conservation surgery) or radiotherapy. Tissue and blood samples were analyzed before treatment and 4 weeks after treatment. The findings were compared with those of the 20 controls. The results revealed that (1) homozygosity of the Pro72 variant of p53 was present in 26 laryngeal carcinoma patients (65%), (2) heterozygosity for the Pro/Arg genotype was present in 13 patients (32.5%), and (3) the Arg72 variant of the p53 allele was present in 1 patient (2.5%) before treatment. Overexpression of p53 mRNA was found in all patients with laryngeal carcinoma and in none of the controls before treatment; the difference was approximately 3.3 folds higher in the carcinoma group. However, p53 expression was not related to the biologic aggressiveness of these tumors. It is interesting that 4 weeks after definitive therapy, the expression levels of p53 mRNA in the 40 patients were comparable to those of the controls. The p53 antibodies were detected in the plasma of all patients with laryngeal carcinoma prior to definitive therapy and in none of them afterward, indicating that these antibodies represent a prognostic marker in laryngeal carcinoma. Our findings suggest that there is a correlation between p53 overexpression and the development of laryngeal carcinoma. Anti-p53 antibodies can be used as a prognostic marker in laryngeal carcinoma, and they can be exploited in the future to control the response to therapy and to monitor for certain early recurrences before they become clinically detectable.

Hyperthyroidism in patients with thyroid cancer

June 14, 2016  |  Sunil Dutt Sharma, MBBS, BSc(Hons), MRCS; Gaurav Kumar, MBBS, MS(ENT), DNB; Karen Guner, CNS; Hesham Kaddour, MBBCh, DLO, FRCS(OTO)


We present a retrospective case series of patients with hyperthyroidism and thyroid cancer. Our goal was to look at their clinical characteristics and outcomes to determine which patients would require further investigation. We reviewed the case notes of all patients with a histopathologic diagnosis of thyroid cancer and biochemical evidence of hyperthyroidism who had been treated at a thyroid cancer center from January 2006 through October 2013. During that time, 66 patients had been diagnosed with thyroid cancer. Of these, 8 patients (12%)-all women, aged 29 to 87 years (mean: 55.6; median: 50.5)-had biochemical evidence of hyperthyroidism. Among these 8 patients, 4 had an autonomously functioning toxic nodule (AFTN), 3 were diagnosed with Graves disease, and 1 had a toxic multinodular goiter. Five patients had suspicious features on preoperative ultrasonography. All 8 patients were diagnosed with the papillary type of thyroid carcinoma. The mean size of the tumor in the 4 patients with AFTN was significantly larger than it was in those with Graves disease (42.3 ± 23.8 mm vs. 3.8 ± 1.6; p = 0.04). The 3 patients with Graves disease all had incidentally found papillary microcarcinoma. Between these two groups, the patients with AFTN had a poorer prognosis; 2 of them had extracapsular invasion and lymph node metastasis, and another died of her disease. We found that the incidence of hyperthyroidism in thyroid cancer patients was relatively high (12%). In contrast to what has previously been reported in the literature, patients with AFTN seem to have more aggressive disease and poorer outcomes than do patients with Graves disease. Any suspicious nodule associated with hyperthyroidism should be evaluated carefully.

Cholesteatoma and coexisting findings diagnosed incidentally on MRI

June 14, 2016  |  Gahl Greenberg, MD; Ana Eyal, MD; Arkadi Yakirevitch, MD; Michael Wolf, MD; Lela Migirov, MD


The explosive growth in the use of diffusion-weighted magnetic resonance imaging (MRI) in the pre- and postoperative evaluations of patients with cholesteatoma has led to a concomitant increase in the number of incidental findings in this population. We describe our retrospective examination of MRI studies in cholesteatoma patients to look for the presence of other coexisting abnormalities. We examined the brain MRIs of 103 patients-45 males and 58 females, aged 3 to 81 years (mean: 31.9 ± 21.3)-who had undergone pre- or postoperative imaging during the management of a cholesteatoma. The MRIs revealed the presence of at least one other anomaly in 79 of these patients (76.7%)-36 males and 43 females, aged 3 to 81 years (mean: 43.5 ± 18.2). These 79 MRIs detected a total of 124 lesions that had been coexisting with cholesteatomas; some of these lesions had overlapped with the cholesteatoma. The two most common findings were sinonasal mucoperiosteal thickening and polyposis (n = 66) and white-matter changes (n = 29). Our results establish the need for routine skilled interpretation of brain MRIs by expert neuroradiologists to ensure that findings coexisting with cholesteatoma are detected so that appropriate management can be provided.

Detection of CMV DNA in the perilymph of a 6-year-old boy with congenital cytomegalovirus infection

June 14, 2016  |  Ina Foulon, MD; Oriane Soetens, PhD; Leen Vleurinck, MA; Frans Gordts, PhD; Astrid Leus, MD; Anne Naessens, PhD


We present the case of a 6-year-old boy who received a cochlear implant for profound sensorineural hearing loss after being born with cytomegalovirus (CMV) infection. Even after 6 years, CMV DNA was still found in the perilymph of the cochlea. Our case shows that CMV DNA can be present in the cochlea years after congenital CMV infection, and it can explain why progressive and/or late-onset hearing loss occurs in these children.

Dietary consumption patterns and laryngeal cancer risk

June 14, 2016  |  Petros V. Vlastarakos, MD, MSc, PhD; Andrianna Vassileiou, MD, PhD; Evie Delicha, MSc; Dimitrios Kikidis, MD, MSc; Dimosthenis Protopapas, MD, PhD; Thomas P. Nikolopoulos, MD, DM, PhD


We conducted a case-control study to investigate the effect of diet on laryngeal carcinogenesis. Our study population was made up of 140 participants-70 patients with laryngeal cancer (LC) and 70 controls with a non-neoplastic condition that was unrelated to diet, smoking, or alcohol. A food-frequency questionnaire determined the mean consumption of 113 different items during the 3 years prior to symptom onset. Total energy intake and cooking mode were also noted. The relative risk, odds ratio (OR), and 95% confidence interval (CI) were estimated by multiple logistic regression analysis. We found that the total energy intake was significantly higher in the LC group (p < 0.001), and that the difference remained statistically significant after logistic regression analysis (p < 0.001; OR: 118.70). Notably, meat consumption was higher in the LC group (p < 0.001), and the difference remained significant after logistic regression analysis (p = 0.029; OR: 1.16). LC patients also consumed significantly more fried food (p = 0.036); this difference also remained significant in the logistic regression model (p = 0.026; OR: 5.45). The LC group also consumed significantly more seafood (p = 0.012); the difference persisted after logistic regression analysis (p = 0.009; OR: 2.48), with the consumption of shrimp proving detrimental (p = 0.049; OR: 2.18). Finally, the intake of zinc was significantly higher in the LC group before and after logistic regression analysis (p = 0.034 and p = 0.011; OR: 30.15, respectively). Cereal consumption (including pastas) was also higher among the LC patients (p = 0.043), with logistic regression analysis showing that their negative effect was possibly associated with the sauces and dressings that traditionally accompany pasta dishes (p = 0.006; OR: 4.78). Conversely, a higher consumption of dairy products was found in controls (p < 0.05); logistic regression analysis showed that calcium appeared to be protective at the micronutrient level (p < 0.001; OR: 0.27). We found no difference in the overall consumption of fruits and vegetables between the LC patients and controls; however, the LC patients did have a greater consumption of cooked tomatoes and cooked root vegetables (p = 0.039 for both), and the controls had more consumption of leeks (p = 0.042) and, among controls younger than 65 years, cooked beans (p = 0.037). Lemon (p = 0.037), squeezed fruit juice (p = 0.032), and watermelon (p = 0.018) were also more frequently consumed by the controls. Other differences at the micronutrient level included greater consumption by the LC patients of retinol (p = 0.044), polyunsaturated fats (p = 0.041), and linoleic acid (p = 0.008); LC patients younger than 65 years also had greater intake of riboflavin (p = 0.045). We conclude that the differences in dietary consumption patterns between LC patients and controls indicate a possible role for lifestyle modifications involving nutritional factors as a means of decreasing the risk of laryngeal cancer.