Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.

Background: Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with Gardner syndrome and can be discovered during routine dental examinations. However, sometimes the diagnosis is challenging due to the high clinical variability and incomplete clinical picture. Herein, we report a family with various dental and bone anomalies, in which the definitive diagnosis was established with the help of a comprehensive genetic analysis based on state-of-the-art next-generation sequencing technology. Case presentation: A 17-year-old female index patient presented with dental (caries, impacted, retained and anteriorly located teeth) and atypical bone anomalies not resembling Gardner syndrome. She was first referred to our Genetic Counselling Unit at the age of 11 due to an atypical bone abnormality identified by a panoramic X-ray. Tooth 3.6 was surgically removed and the histopathology report revealed a Paget's disease-like bone metabolic disorder with mixed osteoblastic and osteoclastic activity of the mandible. A small lumbar subcutaneous tumor was discovered by physical examination. Ultrasound examination of the tumor raised the possibility of a soft tissue propagation of chondromatosis. Her sister, 2 years younger at the age of 14, had some benign tumors (multiple exostoses, odontomas, epidermoid cysts) and impacted teeth. Their mother had also skeletal symptoms. Her lower teeth did not develop, the 9th-10th ribs were fused, and she complained of intermittent jaw pain. A cranial CT scan showed fibrous dysplasia on the cranial bones. Whole exome sequencing identified a heterozygous pathogenic nonsense mutation (c.4700C>G; p.Ser1567*) in the APC gene in the index patient's DNA. Targeted sequencing revealed the same variant in the DNA of the other affected family members (the sister and the mother). Conclusion: Early diagnosis of this rare, genetically determined syndrome is very important, because of the potentially high malignant transformation of intestinal polyps. Dentists should be familiar with the typical maxillofacial features of this disorder, to be able to refer patients to genetic counseling. Dental anomalies often precede the intestinal polyposis and facilitate the early diagnosis, thereby increasing the patients' chances of survival. Genetic analysis may be necessary in patients with atypical phenotypic signs.

Application of platysma-based transpositional flap for through-and-through facial defect when the facial artery circulation is blocked or compromised.

PURPOSE: A novel use of site-limited platysma-based transpositional flap is demonstrated and discussed for the reconstruction of facial defects. MATERIALS AND METHODS: Between January 1985 and January 2001, 342 patients were operated on for advanced oral-oropharyngeal and orofacial cancers. In 6 cases, a platysma-based transpositional flap was used for external closure of facial through-and-through defects. Internally, the saved oral mucosa was used in 4 patients and fasciocutaneous forearm free flaps in 2 patients. The facial artery was blocked in all cases. RESULTS: The postoperative course was uneventful except in 1 case, when partial loss of the flap was observed intraorally. The externally used transpositional platysma-based flap showed cosmetic and functional advantages: its consistency, color, and texture were similar to those of the original facial tissues, the area of operation was the same, and the donor site was closed primarily. CONCLUSION: The site-limited platysma-based myocutaneous transpositional flap is usable and safe even in those cases in which circulation of the facial artery is damaged or local vascular compromise has occurred and the facial through-and-through defect is extended. The facial reconstruction described is one of several applicable reconstructive methods that may be chosen for special facial defects. The method is not applicable when the neck is radically operated on (radical neck dissection) and/or irradiated. No similar use of platysma-based transpositional flaps has been reported thus far.

Induction chemotherapy response and recurrence rates in correlation with N0 or N+ stage in oral squamous cell cancer (OSCC).

The authors compared N0 with N+ cases in neoadjuvant chemotherapy regression and recurrence. During a 12-year period, 180 consecutive oral squamous cell cancer patients were observed. Of these patients, 78 were N0 and 102 N+ stages. The drugs used were as follows: bleomycin, vincristine, methotrexate, and mitolactol. After three courses of chemotherapy, the regression (complete response (CR), partial response (PR), and no response (NR)) and side effect rate were determined. All patients were operated on and observed for the number and localization of recurrences during 3 year follow-up time. The N0 cases came from T2-3, while N+ was from T2-4a (AJCC 2002). The regression in the N0 group was CR 46%, PR 53%, and NR 1%; but in the N+ group, it was CR 12%, PR 72%, and NR 16%. The regression rate was significantly higher (p = 0.00025) for N0 group than N+ group. The regression rate for T3 N0 was significantly higher (p = 0.055) than for T3 N+ cases. In the N0 stage, the regression rate was significantly higher (p = 0.0174) for T2 than T3. In N+ stage, there was no significant difference (p = 0.183) for T2-4a. The side effects were slight. The recurrence rate for the N0 group was significantly lower (15%, p = 0.000069), while for N+ group, it was 59%. The dependence in the T3 cases was also significant (p = 0.009) in the 3-year tumor-free survival. The N stage seems a more important prognostic factor for chemotherapy response and recurrence rate than the T stage. Stage III can be divided into subgroups without metastasis (III.a) and with metastasis (III.b.), based on significant difference in regression and recurrence rate.

Neoadjuvant chemotherapy: does it have benefits for the surgeon in the treatment of advanced squamous cell cancer of the oral cavity?

The purpose of this clinicopathological study was to evaluate the effects and efficiency of combined neoadjuvant chemotherapy related to surgical margin. 100 consecutively treated squamous cell cancer patients receiving a combined neoadjuvant therapy were selected (Bleomycin-Vincristin-Methotrexate (BVM) or BVM + Mitolactol or BVM + Cisplatin). After three courses of chemotherapy, the patients were operated on. The largest diameter of the primary tumors was compared before and after chemotherapy. In the surgical specimen, the involvement of surgical margin was assessed. The largest diameter before chemotherapy was: T2 30%; T3 55%; T4A 15%. After chemotherapy, the rest tumor was assessed in the surgical specimen as: no rest 11%; <2 cm 57%; 2-4 cm 28%; 4-6 cm 4%. The no rest and <2 cm (optimal operability) tumor was observed in T2: 94%; in T3: 73%; in the T4A: 0%. Severe side effects (Grade III-IV) were not observed. There was a significant decrease in size (P < 0.0001). Of the 100 surgical specimens, 83% had clear-, 9% close- and 8% involved margins. From T4A, there was a 40% (6 patients) involved margin. Based on the significantly better size and operability of primary T2-3, the mild side effects and the high (83%) percentage of clear surgical margins, that is better than other (without preoperative chemotherapy) results, sought the use of chemotherapy is recommended before surgery. Due to the 40% involved margin, we don't suggest surgery in T4A.

[Submandibular sialolith: case report and review of the literature]. / Nagyméretü submandibularis nyálkö és sialo-oralis fistula Esetismertetés és irodalmi áttekintés.

Sialolithiasis is a common disease of the salivary glands and a major cause of salivary gland dysfunction. The dominance of submandibular sialoliths is widely investigated. Giant stones (>15 mm) are rare, approximately every tenth or twelfth of the stones belong to this category. Sialo-oral or sialo-cutaneous fistula formation promotes the growth of an excessive size. In their presentation, the authors would like to introduce the diagnostic and therapeutic process of a giant (27 mm) submandibular sialolith and give a review of the literature.