Synchronous thyroid cancer and malignant struma ovarii: concordant mutations and microRNA profile, discordant loss of heterozygosity loci.

BACKGROUND: Struma ovarii is an unusual ovarian teratoma containing predominantly thyroid tissue. Less than 10% of cases undergo malignant transformation in the thyroid tissue and are considered malignant struma ovarii (MSO). MSO have been reported with concurrent thyroid lesions, but molecular data is lacking. CASE PRESENTATION: A 42-year-old female developed MSO and synchronous multifocal subcentimeter papillary thyroid carcinoma (PTC). The patient underwent a salpingo-oophrectomy, thyroidectomy, and low-dose radioactive iodine ablation. Both the thyroid subcentimeter PTC and MSO were positive for BRAF V600E mutation, and microRNA expression profiles were similar across all tumor deposits. However, only the malignant component demonstrated extensive loss of heterozygosity (LOH) involving multiple tumor suppressor gene (TSG) chromosomal loci. CONCLUSIONS: We present the first reported case of MSO with synchronous multifocal subcentimeter PTC in the thyroid containing concordant BRAF V600E mutations and resulting with discordant LOH findings. This data suggests that loss of expression in tumor suppressor gene(s) may be an important contributor to phenotypic expression of malignancy.

Extratumoral invasion: A unique phenomenon of aggressive recurrent oropharyngeal squamous cell carcinoma.

BACKGROUND: Oropharyngeal squamous carcinomas cause significant morbidity and mortality. Poor prognosticators include lymphovascular and perineural invasion. Extratumoral phenotypes of these histologic findings confer worse prognoses. METHODS: We report eight cases of recurrent oropharyngeal cancer with diffuse extratumoral lymphovascular invasion (ELVI) or extratumoral perineural invasion (EPNI) and review the existing literature. RESULTS: On salvage resection for recurrence following primary radiation or chemoradiation, six patients manifested ELVI and two showed EPNI. These patterns conferred difficulty with complete surgical clearance; final pathologic analysis demonstrated positive margins for all eight patients. The six patients with ELVI were p16+ and the two with EPNI were p16-. Currently, two patients are deceased and six patients are alive at an average follow-up of 17.4 months. Of the six living patients, 2 have a new recurrence and are in hospice while 4 have no evidence of disease. CONCLUSIONS: ELVI and EPNI have received little consideration in the literature as unique histopathologic features of oropharyngeal squamous carcinoma. We present the first series on these adverse extratumoral features in recurrent disease. We call attention to these unique histologic features in the setting of recurrent oropharyngeal cancer to encourage others to track the results of therapeutic intervention and to identify successful strategies for treatment.

Psychological adjustment to initial treatment for low-risk thyroid cancer: Preliminary study.

BACKGROUND: Low-risk papillary thyroid carcinoma (LR-PTC) can be managed by immediate surgery (IS) or active surveillance (AS). We compare the psychological impact of these treatments on patients with LR-PTC. METHODS: Psychological data were collected over 1 year, with assessments at the time of treatment decision (T1), at 6 months (T2) and 12 months (T3) follow-up. Assessments included 13 validated psychological tools. RESULTS: Of 27 enrolled patients, 20 chose AS and 7 chose IS. The average times to T2 and T3 were 5.7 and 11.3 months, respectively. For both groups, Impact of Events Scale scores significantly decreased (p = 0.001) at T2, and depressive/anxiety symptoms remained low. CONCLUSIONS: This study demonstrates the feasibility of assessing psychological outcomes among patients treated for LR-PTC. Further studies are needed to evaluate the impact of AS versus IS on quality of life and changes that patients experience over longer time periods following their treatment decision.

A novel technique for management of stenosis of the postlaryngectomy stoma with preservation of a functional tracheoesophageal puncture following tracheal resection.

Tracheostomal stenosis following total laryngectomy presents a serious concern for surgeons and patients. Although various techniques correct tracheostomal stenosis, none address an existing tracheoesophageal puncture (TEP). We present an approach to repair tracheostomal stenosis, requiring tracheal resection, and preserve the TEP in a functional position needed for speech rehabilitation. A 62-year-old male with squamous carcinoma of the right true vocal fold underwent a salvage total laryngectomy with placement of a tracheoesophageal prosthesis. Seven years later, he developed tracheal narrowing. A tracheal resection and tracheoplasty were performed to manage the stenosis while maintaining the tracheoesophageal puncture. Six months postoperatively, the patient was well, with no stomal narrowing or trend toward collapse and uneventful healing. He achieved fluent voice easily with stomal occlusion. We present a novel surgical technique to correct for tracheostomal stenosis following total laryngectomy. Our technique allows for TEP preservation to facilitate speech rehabilitation postoperatively.

A novel method of hard palate reconstruction utilizing a combination of the buccal fat pad and palatal island flap.

The palatal island flap is reliable for single-staged reconstruction of select oral defects. However, fistula formation is a disruptive potential complication. The authors employed this technique in five patients and present a representative case of a 65-year-old female with a left-sided palatal salivary neoplasm. The patient underwent resection and was reconstructed utilizing a combination of the buccal fat pad and palatal island flap. Four of the five patients healed uneventfully. One patient experienced partial loss of the marginal zone of the palatal island flap which successfully granulated and did not lead to an oroantral fistula. The representative patient recovered uneventfully. At 2 weeks, she felt well, with no evidence of fistula. The anterior palate demonstrated early mucosalization. We present the novel, combined use of the palatal island flap and buccal fat pad flap to create a two-layer closure and describe its advantages for posterior palate reconstruction.

Cuneiform (cuniculatum) variant of oral squamous cell carcinoma revisited: Presentation of two cases and literature review of a rare entity.

BACKGROUND: Oral carcinoma cuniculatum (OCC) is a rare, locally aggressive tumor, which tends to invade underlying bone. We present two cases of OCC, one demonstrating invasion of the mandible and the other limited to the tongue. METHODS: An 87-year-old male presented with a right-sided buccogingival lesion. Biopsy results led to a diagnosis of verrucous hyperplasia, which was later revised to OCC. Additionally, a 94-year-old female presented with a left lateral tongue lesion. A biopsy showed in-situ and invasive keratinizing squamous cell carcinoma that was later defined as a soft tissue OCC. RESULTS: Following surgical resection, the diagnosis of OCC was established in both patients. We provide a comprehensive literature review of OCC in the context of both case presentations. CONCLUSIONS: OCC is a rare entity, which has a tendency to be misdiagnosed. We emphasize the importance of recognizing the common features of OCC in order to aid in accurate diagnosis.

Adenoid Cystic Carcinoma of the Gingiva: A Case Report and Literature Review.

OBJECTIVES: Adenoid cystic carcinoma (ACC) is a commonly encountered salivary gland malignancy. However, it rarely occurs in the gingiva, an area generally thought to be devoid of minor salivary glands. We present a case occurring in this unusual site and review other reported cases. METHODS: A 56 year-old male presented with a right-sided mandibular toothache for 1 year and underwent dental extraction. Due to persistent pain, follow up examination revealed a large gingival lesion. A biopsy was positive for adenoid cystic carcinoma. RESULTS: The patient underwent a complete right segmental mandibulectomy and was reconstructed with a fibular osteocutaneous free flap. Three months postoperatively, during the planning for adjuvant radiation therapy, the patient developed pain in the left mandible. Imaging revealed extensive involvement of the left native mandible. Deep bone biopsies in several areas of the left mandible revealed ACC. He then underwent a complete left hemi-mandibulectomy and reconstruction with a fibular osteocutaneous free flap. Tensor fascia lata suspension slings were placed due to concern for an open mouth deformity attributable to disruption of bilateral masticator slings. He will undergo adjuvant radiation therapy. Our review of the literature revealed 50 cases of gingival ACC published since 1972. Disease recurrence and distant metastases were noted in several patients, occurring at the latest after 30 years follow-up. CONCLUSIONS: Given its indolent behavior, high proclivity for late recurrence and metastasis, and overall infrequency, ACC represents a pathology that requires early diagnosis and comprehensive long-term surveillance. While ACC is well described in oral cavity sites with high densities of minor salivary glands, it is not commonly seen in the gingiva. As such, gingival ACC may display a unique biological and/or clinical character. We offer the first literature review of this rare entity.

Extraskeletal Ewing sarcoma of the buccal space.

Extraskeletal Ewing sarcoma (EES) is a rare soft tissue tumor, and EES of the head and neck is particularly rare. Radiographic imaging of these lesions is crucial given their anatomical complexity and infrequent incidence. Conventional EES imaging features include a large, hyperintense, heterogeneously enhancing lesion, with frequent invasion of local structures. In this case report, a 19-year old male presented with left facial swelling and pain. He underwent sclerotherapy and bleomycin treatment for a presumed lymphatic malformation. Initial imaging demonstrated a rim-enhancing lesion within the left buccal space with no muscle invasion or bony erosion present. Two years later, imaging identified an enlarging buccal mass with destruction of the zygomatic arch and inferolateral orbital wall. The patient underwent surgical resection of the mass. Pathology confirmed the mass to be a small round blue cell tumor and FISH testing confirmed the presence of the EWSR1 gene arrangement that is consistent with EES. The patient tolerated the procedure well and underwent chemoradiation therapy. At three years postoperatively, the patient remains disease free. The presented case demonstrates an unusual presentation of a buccal space EES as a rim-enhancing, centrally hypointense mass with no bony erosion or muscular invasion. The location and atypical imaging appearance of this case offer insight for future diagnosis of EES.