[Late neck metastasis in esthesioneuroblastoma: a case report]. / Estesyonöroblastomda geç boyun metastazi: Olgu sunumu.

Esthesioneuroblastoma is a rare malignancy of olfactory neuroepithelium arising from sinonasal region. It has biologically an aggressive behavior. The tumor is characterised by common local recurrence, atypic distant metastasis and poor long-term prognosis. Cervical metastasis accounts for 20-30% of the patients. Late metastases are seen particularly six months or later following primary treatment. In this article, we present a 43-year-old female case with Kadish B stage esthesioneuroblastoma who underwent extracranial tumor resection and postoperative radiotherapy. Eleven years later (at 132 months) right neck cervical metastasis was occurred and we applied right functional neck dissection and adjuvant radiotherapy to treat. We also review the treatment of late neck metastasis in the light of the current literature data.

[Pull-through resection and peroral resection in early-stage (T1 and T2) tongue and floor of the mouth cancers: a comparison of two techniques]. / Erken evre (T1-T2) dil ve agiz tabani kanserlerinde pull-through rezeksiyon ve peroral rezeksiyon: Iki teknigin karsilastirilmasi

OBJECTIVES: To compare oncological, functional, clinical and cosmetic results of peroral resection and pull-through resection in early stage (T1, T2) tongue and floor of the mouth cancers. PATIENTS AND METHODS: Forty-nine patients (23 females, 26 males; mean age 54.4 years; range 21 to 87 years) with stage T1 and T2 oral tongue and floor of the mouth cancers primarily treated with peroral resection or pull-through resection techniques between 1998 and 2008 were included in this study. The data obtained during the study (clinical follow-up, tumor stage, type of surgery) were retrospectively evaluated, and the data obtained from patient follow-up (relapse, speaking, eating and drinking function, cosmetic appearance, patient satisfaction) were evaluated prospectively. Twenty-two patients were staged T1 and 27 patients were staged T2. Ten patients with stage T1 underwent pull-through resection, 12 patients with stage T1 underwent peroral resection. Sixteen patients with stage T2 underwent pull-through resection, 11 patients with stage T2 underwent peroral resection. Independent Samples T-test, One Way ANOVA test and Chi-Square test were used to compare these two resection techniques. RESULTS: Cervical lymph node metastases were detected in 13 patients (27%) of 49 patients with early stage T1-T2 during postoperative histopathological evaluation. The difference was statistically significant in terms of recurrence in T2 tumors (p<0.05). The recurrence rate was 26% in patients who underwent peroral resection and 3.8% in patients who underwent pull-through resection with stage T1 and T2. Although there was no significant difference when comparing patient satisfaction, cosmetic appearance and postoperative complications, a significant difference was found for nasogastric tube and prophylactic tracheotomy applications in patients who underwent pull-through resection (p<0.05). CONCLUSION: Pull-through resection is oncologically safer than peroral resection at the early stage (T1, T2) of floor of the mouth and oral tongue carcinomas. There was no significant difference between the two techniques concerning function and cosmesis.

[Malignant peripheral nerve sheath tumor in the parotid gland developed on the basis of neurofibromatosis type 1]. / Nörofibromatozis tip 1 zemininde gelisen parotis bezi yerlesimli habis periferik sinir kilifi tümörü olgusu.

Malignant peripheral nerve sheath tumors arising from the parotid gland are very rare. They can develop as sporadic cases, or on the basis neurofibromatosis type 1. Tumors originating from the parotid gland are generally easy to palpate and have a solid characteristic. Even if the tumor is malignant in character, the incidence of facial paralysis at the time of diagnosis is around 15% in various studies. However, a malignant tumor originating from the nerve itself may not be noticed during the physical examination for a long period time although it cases facial paralysis and may be mistaken with other non-neoplastic diseases involved in the etiology of facial paralysis leading to a delay in the diagnosis and treatment. Especially patients with type 1 neurofibromatosis have a great tendency to develop malignant peripheral nerve sheath tumors. In this article a case of malignant peripheral nerve sheath tumor developed on the basis of neurofibromatosis type 1 was reported.

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA. This mutation is located on triple helix repeat domain of the collagen alpha-2(XI) chain, where the majority of the previously identified mutations are located. Real-time RT-PCR experiment provided that mutated transcript does not decay completely. Although our analysis displays the partial survival of the mutant transcript from blood tissue, not from cartilage, we propose that this mechanism may play an important role on the variable expressivity of the heterozygous COL11A2 gene mutations.

Oncological results of surgical treatment of malignant tumors of the nasal vestibule.

OBJECTIVES: We evaluated functional results of surgical treatment for squamous cell carcinoma of the nasal vestibule. PATIENTS AND METHODS: A retrospective review of 2,763 patients treated for head and neck cancers between 1991 and 2000 revealed 10 cases of nasal vestibule tumors, with an incidence of 0.36%. All the patients were males with a mean age of 64.8 years (range 58 to 72 years). Based on the classification system of the AJCC 1992 for skin cancers, and the UICC classification for neck metastasis, three patients had T2, three patients had T3, and four patients had T4 tumors. Lymph node metastasis was present in three patients. Nine patients were treated with surgery as the primary treatment. One patient underwent surgical salvage following radiotherapy failure. The mean follow-up period was 3.65 years (range 6 months to 12 years). RESULTS: Three patients with metastatic neck disease and four patients with advanced tumors underwent radical neck dissection and selective supraomohyoid neck dissection, respectively. Seven patients underwent reconstruction with paramedian forehead flap (n=3), nasolabial flap (n=2), aural composite graft, or split thickness flap. Including the one with radiotherapy failure, two patients died within the first postoperative year due to local and neck recurrences. Another patient died in the postoperative third year due to metastatic squamous cell carcinoma of the lung. No cosmetic or functional complaints were observed in patients with early stage lesions. Two patients with advanced tumors had nasal ventilation problems and a secondary revision procedure was required in one. CONCLUSION: Surgery is a successful therapeutic modality for carcinoma of the nasal vestibule, especially when applied in conjunction with proper reconstruction techniques and, when necessary, neck dissection procedures.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene MYO15A on chromosome 17p13.1-17q11.2. Subsequent sequencing of the MYO15A gene led to the identification of a novel missense mutation, c.5492G-->T (p.Gly1831Val) and a novel splice site mutation, c.8968-1G-->C. These mutations were not detected in additional 64 unrelated ARNSHI index patients and in 230 Turkish control chromosomes. Gly1831 is a conserved residue located in the motor domains of the different classes of myosins of different species. Molecular modeling of the motor head domain of the human myosin XVa protein suggests that the Gly1831Val mutation inhibits the powerstroke by reducing backbone flexibility and weakening the hydrophobic interactions necessary for signal transmission to the converter domain.

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea.

Incidence of cochlear involvement in hyperbilirubinemic deafness.

Neonatal hyperbilirubinemia remains an important cause of childhood deafness, especially in developing countries. After neonatal hyperbilirubinemia, the auditory neural pathways, cochlea, or both may be affected. In this study, we aimed to determine the incidence of cochlear impairment and the appropriate means of hearing screening in hyperbilirubinemic neonates. A retrospective review of 1,032 pediatric patients with hearing loss revealed 67 cases (6.5%) of severe hyperbilirubinemia in the neonatal period. Thirty of these patients had neonatal hyperbilirubinemia as the single identifiable risk factor for hearing loss. In 26 of 30 cases (87%), otoacoustic emissions (OAEs) were absent, whereas in the remaining 4 cases (13%), robust emissions were detected despite an absent auditory brain stem response (ABR). Auditory screening of newborns with jaundice by OAEs possesses a significant risk of undiagnosed deafness. On the other hand, if the ABR is used as the single means of screening, auditory neuropathic conditions will probably be underlooked. Therefore, we recommend dual screening of hearing by ABR and OAEs in hyperbilirubinemic newborns.

Management of carotid artery invasion in advanced malignancies of head and neck comparison of techniques.

The objective of this study was to retrospectively investigate a single institution's experience with carotid artery resection performed as part of an oncological procedure and to determine acute and convalescent complication and survival rates. We performed a record review of 28 patients with head and neck malignancy invading the carotid artery. Immediate carotid artery resection and ligation on an emergent basis was performed on 12 patients (group 1), elective resection and ligation was performed on 8 patients (group 2), and elective resection and revascularization was performed on 8 patients (group 3). In group 1, although 1 patient survived for 1 year and 1 patient survived for 2 years, 1 patient died of severe neurologic deficit, 2 patients experienced neurologic deficit with good recovery, and 1 patient was moderately disabled. In group 2, 2 patients survived without disease for 5 years, and 2 patients experienced neurologic deficit, 1 with good recovery and the other with complete recovery. In group 3, only 1 patient survived for 5 years, and within this group, 1 patient died of severe neurologic deficit, 1 patient had neurologic deficit with moderate recovery, and 1 patient had neurologic deficit with complete recovery. No significant difference in mortality and morbidity rate was observed between the "resection and ligation" group and the "resection and revascularization" group (p = .52, chi(2) = 0.79). We conclude that the surgical treatment of patients with an invaded carotid artery, including carotid resection, provides a small but real chance of 5-year survival. The methods of carotid resection and repair should be guided by clinical presentation and by preoperative and intraoperative investigations.

The functional and oncologic effectiveness of near-total laryngectomy.

PURPOSE: To investigate the oncologic efficiency of near-total laryngectomy for advanced laryngeal and neighboring organ cancers and to evaluate the functional results. MATERIALS AND METHODS: A retrospective review of 135 cases of near-total laryngectomy carried out in a tertiary university hospital between 1989 and 2000 was undertaken. The original operation was carried out in 3 groups: classic "near-total laryngectomy" for endolaryngeal lesions; "near-total laryngectomy and partial pharyngectomy" for lesions originating from the pyriform sinus or lesions with extension to the pharynx or tongue base but reconstructed primarily; and "near-total laryngopharyngectomy" for lesions requiring pedicled flap reconstruction after resection. Oncologic success was evaluated according to the location and extent of the tumor and the particular operation. Functional outcome was evaluated according to phonation and its quality as well as to the severity of aspiration. RESULTS: Of the 135 cases, 121 were men, and 14 were women (age range, 33-80 years; mean, 56.2 years). Mean phonation time was 35.2 days, and mean onset of oral intake was 18.5 days. Of the 135 cases of the series, 124 were evaluated for survival. Thirteen of 26 (50.0%) cases of T2, 34 of 53 (64.2%) cases of T3, and 33 of 45 (73.3%) cases of T4 carcinomas survived by the end of the evaluation period. Likewise, 46 of 77 (59.7%) cases of N0, 16 of 19 (84.2%) cases of N1, and 18 of 27 (66.7%) cases of N2 survived the same period; however, none with N3 metastatic neck disease survived. The probability of survival with regard to the T and N stages of the disease did not reveal a statistically significant result (P =.15 and.49, respectively). CONCLUSIONS: According to these results, near-total laryngectomy is a valid alternative for extended laryngeal and neighboring organ cancers with an acceptable morbidity and a high success rate for voice preservation. Near-total laryngectomy should be offered as a surgical treatment alternative for these patients.

An indolent course of multiple myeloma mimicking a solitary thyroid cartilage plasmacytoma.

Multiple myeloma, solitary plasmacytoma, and extramedullary plasmacytoma constitute a continuum of a disease spectrum, which is called plasma cell neoplasms. These three entities can not be differentiated from each other on a histological basis and, for this reason, clinical evaluation is important in their differential diagnoses. Differential diagnosis guides the proper planning of treatment and helps in estimation of survival. Multiple myeloma located within the larynx is very rare. Because of its rarity, any established diagnostic and treatment criteria do not exist. In this report, a case of laryngeal multiple myeloma is presented for its extraordinary presentation and also for educational purposes.

Does the addition of hyperbaric oxygen therapy to the conventional treatment modalities influence the outcome of sudden deafness?

OBJECTIVE: To investigate the therapeutic effects of the addition of hyperbaric oxygen (HBO) therapy to the conventional therapies in sudden deafness (SD) and to investigate the influence of patient age on the effectiveness of HBO therapy. STUDY DESIGN AND SETTING: We undertook a retrospective review of 50 cases of SD treated at a tertiary university hospital. Twenty-five patients (group 1) were treated with betahistine hydrochloride, prednisone, and daily stellate ganglion block. A second group (group 2) of 25 patients received the same basic treatment with the addition of HBO therapy. RESULTS: The mean hearing gain was 20.0 dB in group 1 and 37.9 dB in group 2 (P < 0.05). In group 2 patients, the mean gains were 51.4 and 23.3 dB for those younger and older than 50 years (P < 0.05) and 48.9 and 14.5 dB for those younger and older than 60 years (P < 0.001), respectively. In patients older than 60 years, the mean gains were 14.5 and 14.4 dB in group 2 and group 1, respectively (P > 0.05). CONCLUSIONS: The addition of HBO therapy to the conventional treatment significantly improves the outcome of SD, especially in patients younger than 50 years. Additional HBO therapy provides limited benefit in patients older than 50 years and no benefit in patients older than 60 years.

Near-total laryngectomy for laryngeal carcinomas with subglottic extension.

OBJECTIVE: To investigate whether Pearson classic near-total laryngectomy is a sensible surgical treatment modality for laryngeal carcinomas with subglottic extension. DESIGN: Retrospective analysis of patients treated by near-total laryngectomy in a university hospital that is an academic tertiary health care center. PARTICIPANTS AND INTERVENTION: Medical and computer records of 135 patients who were treated by near-total laryngectomy for laryngeal and hypopharyngeal carcinomas between April 1, 1989, and June 30, 2000, were searched thoroughly, and the final outcomes were confirmed by telephone contact. MAIN OUTCOME MEASURES: Survival rates of the patients with laryngeal carcinomas with subglottic extension treated by near-total laryngectomy were compared with those of the patients with malignancies of other laryngeal regions given the same treatment. RESULTS: Of the 135 patients in the study, 74 were available for determination of 5-year survival. The rate was 65.8% (27/41) for transglottic tumors, 53.8% (7/13) for supraglottic tumors, and 20.0% (4/20) for tumors with subglottic extension. Only 3 of 16 patients with laryngeal carcinomas with supraglottic or transglottic localization died of local recurrence; the rest of the deaths were from regional recurrence or distant metastasis. However, 6 of 13 patients with subglottic extension died of local recurrence, 5 of peristomal recurrence, and only 2 of distant metastasis. CONCLUSIONS: Success was directly related to adherence to precise indications in cancer surgery. While near-total laryngectomy is an effective and reliable treatment modality in laryngeal cancer surgery, its effectiveness in laryngeal cancers with subglottic extension is debatable. These subglottic lesions should be treated by total laryngectomy, which is a more radical surgery.