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Case Report: Hidden Oral Squamous Cell Carcinoma in Oral Somatic Symptom Disorder.

ABSTRACT: Background: Burning mouth syndrome (BMS) is a common condition of predominant oral pain without evident cause, that maxillofacial surgeons and otolaryngologists often refer to psychiatrists as somatic symptom disorder. In very rare cases, its typical burning symptom mimics those of other diseases in which serious fatal comorbidities may be missed. We encountered three rare cases of oral squamous cell carcinoma (OSCC) with the first symptom of burning tongue. Case Presentation: Case 1: A 68-year-old woman had burning pain on the left lingual margin for 8 years. Antidepressant treatment was not efficacious. Cytology and biopsy revealed OSCC. Case 2: A 70-year-old man had burning sensation and paralysis of the tongue for 6 months. Magnetic resonance imaging (MRI) revealed a 37 × 23-mm mass under the floor of the mouth and enlargement of lymph nodes on both sides. Case 3: A 90-year-old man had burning sensation of the tongue for 1 year. MRI revealed a 12 × 12-mm mass on the mandible with bone absorption. Conclusion: This case series suggests that psychiatrists must always be careful in regarding BMS as somatic symptom disorder and be cautious of the possibility of OSCC, especially in elderly patients.

SUBMITTER: Suga T

PROVIDER: S-EPMC8046933 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

Project description:BackgroundGermline CDKN2A mutations are a well-known cause of familial atypical multiple mole melanoma (OMIM #155601) and melanoma-pancreatic cancer syndrome (OMIM #606719). Increased risk of head and neck squamous cell carcinoma (HNSCC), particularly oral squamous cell carcinoma (OSCC) in those with germline CDKN2A mutations, has been described. However, screening for HNSCC is not a routine practice in patients with CDKN2A germline mutations and these mutations are not a conventional test for HNSCC patients without obvious risk factors.Case presentationWe describe a female with no smoking history who developed oral squamous cell carcinoma at age 39 and had a complex clinical course of recurrent multifocal squamous cell carcinoma (SCC) and carcinoma in situ of the oral cavity and oropharynx. Detailed family history demonstrated that her mother was diagnosed with OSCC and melanoma in her 40 s, and her maternal grandfather was diagnosed with metastatic melanoma in his 40 s. Genetic testing of the patient and her mother revealed CDKN2A c.301G>T mutation. She was referred to genetic counseling as well as to dermatology, gastroenterology, and neurology for cancer surveillance. She was treated with resections and has no evidence of disease 3 years after diagnosis.ConclusionsWe report a family with a CDKN2A c.301 G>T mutation who also have significant history of OSCC, adding to the growing body of literature suggesting increased risk of HNSCC, particularly OSCC, in CDKN2A germline mutation carriers. It is important to consider CDKN2A mutation testing in familial HNSCC and young patients without obvious risk factors. Moreover, surveillance for HNSCC should be routine practice in those with a CDKN2A germline mutation.

| S-EPMC8818223 | biostudies-literature

Neoadjuvant Immunotherapy of Oral Squamous Cell Carcinoma: Case Report and Assessment of Histological Response.

Project description:BackgroundThe treatment of oral cancer remains challenging due to its infiltrative nature and a high tendency for tumour relapse leading to an overall poor prognosis. In the case of early recurrence, the patient's prognosis deteriorates dramatically, with survival rate dropping to below 30%. Minimal improvements in survival trends in recurrent and advanced stage tumours have been reported in recent decades. Neoadjuvant immunotherapy may represent a new therapeutic approach changing the standard of care in advanced oral cancer therapy.Case presentationWe describe the case of a woman in her late 30's who presented in mid-2019 with oral squamous cell carcinoma (OSCC) localized to the floor of the mouth. After initial R0 resection, selective neck dissection, and adjuvant brachytherapy, an early recurrence of OSCC located between the hyoid bone and the mandible was diagnosed at the end of 2019. An off-label treatment regimen was performed with neoadjuvant use of Pembrolizumab 19 days prior to salvage surgery. Radiological and histological assessment of T-cell and programmed cell death protein 1 ligand 1 (PD-L1) expression was performed before and after checkpoint inhibitor application. Neoadjuvant immunotherapy resulted in increased T-cell infiltration and PD-L1 expression, as well as a significant tumour necrosis rate. One cycle of Pembrolizumab led to significant regressive tumour changes with increases in immune infiltration, sclerosis, and necrosis of 75% of the tumour mass with only 25% vital tumour cells remaining. By June 2020, the patient remained without recurrence.ConclusionsThe case presented outlines the potential effects of neoadjuvant immunotherapy in recurrent or advanced OSCC prior to definitive surgical tumour treatment. The benefit of additional adjuvant treatment after histologic response will be discussed. The case is also analysed considering ongoing clinical trials of neoadjuvant immunotherapy for head and neck malignancies.

| S-EPMC8334861 | biostudies-literature

Oral Squamous Cell Carcinoma Metastasis to Anterolateral Thigh Flap Donor Site: A Case Report.

Project description:In the realm of oncologic reconstructive surgery, local or distant autologous tissue is frequently used to improve function and appearance. Due to advances in microsurgery and intensive care, reconstructive free flap surgery has become the standard treatment for head and neck cancer. However, the complexity of interdisciplinary intervention and prolonged surgical time inevitably increase the risk of cross-contamination, potentially leading to donor site metastasis. According to the literature, tumor transmission to the donor site of free flaps is extremely rare. We present the case of a 54-year-old man with left tongue squamous cell carcinoma. Three months after tumor ablation and reconstruction with a free anterolateral thigh flap, the patient presented with a mass on the donor site of the left thigh, which was proven to be a metastasis. A systemic workup revealed multiple metastases. Six months after reconstruction, the patient died of COVID-19 pneumonia. The incidence and risk factors of donor site metastasis are not well known. The primary causes are direct implantation or hematogenous spread. Cross-contamination is primarily prevented by the surgeon's awareness and avoidance. The development of new-onset lesions at the donor site warrants additional testing to detect systemic disease progression during follow-up.

| S-EPMC10513356 | biostudies-literature

Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.

Project description:The survival of patients with oral squamous cell carcinoma (OSCC) has not changed significantly in several decades, leading clinicians and investigators to search for promising molecular targets. To this end, we conducted comprehensive genomic analysis of gene expression, copy number, methylation, and point mutations in OSCC. Integrated analysis revealed more somatic events than previously reported, identifying four major driver pathways (mitogenic signaling, Notch, cell cycle, and TP53) and two additional key genes (FAT1, CASP8). The Notch pathway was defective in 66% of patients, and in follow-up studies of mechanism, functional NOTCH1 signaling inhibited proliferation of OSCC cell lines. Frequent mutation of caspase-8 (CASP8) defines a new molecular subtype of OSCC with few copy number changes. Although genomic alterations are dominated by loss of tumor suppressor genes, 80% of patients harbored at least one genomic alteration in a targetable gene, suggesting that novel approaches to treatment may be possible for this debilitating subset of head and neck cancers.

| S-EPMC3858325 | biostudies-literature

Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers (mRNA)

Project description:Oral cavity squamous cell carcinoma (OSCC) is a disease with extensive morbidity and mortality and few useful molecular targets. Multiplatform integrated genomic analysis was performed in order to identify genomic drivers and molecularly discernible tumor subtypes. mRNA, miRNA and methylation data are all submitted to GEO We measured gene expression of 43 OSCC cases with the Affymetrix Human Exon 1.0 ST Array

| S-ECPF-GEOD-41116 | biostudies-other

Clinical significance in oral cavity squamous cell carcinoma of pathogenic somatic mitochondrial mutations.

Project description:Somatic mutations affecting the mitochondrial DNA (mtDNA) have been frequently observed in human cancers and proposed as important oncological biomarkers. However, the clinical significance of mtDNA mutations in cancer remains unclear. This study was therefore performed to explore the possible clinical use in assessing oral squamous cell carcinoma (OSCC) of pathogenic mtDNA mutations. The entire mitochondrial genome of 300 OSCC with their matched control DNAs was screened by direct sequencing and criteria were set to define a pathogenic somatic mutation. The patients' TP53 R72P genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. The relationships between pathogenic somatic mutations, clinicopathogical features, TP53 R72P genotype and clinical prognosis were analyzed. Overall, 645 somatic mtDNA mutations were identified and 91 of these mutations were defined as pathogenic. About one quarter (74/300) of the OSCC tumor samples contained pathogenic mutations. Individuals with the TP53 R allele had a higher frequency of pathogenic somatic mutation than those with the PP genotype. Kaplan-Meier analysis indicated that TP53 R allele patients with pathogenic somatic mutations demonstrated a significant association with a poorer disease-free survival than other individuals (HR = 1.71; 95% CI, 1.15-2.57; p = 0.009) and this phenomenon still existed after adjusting for mtDNA haplogroup, tumor stage with treatment regimens, differentiation and age at diagnosis (HR = 1.59; 95% CI, 1.06-2.40; p = 0.03). Subgroup analyses showed that this phenomenon was limited to patients who received adjuvant radiotherapy/chemo-radiotherapy after surgery. The results strongly indicated that pathogenic mtDNA mutations are a potential prognostic marker for OSCCs. Furthermore, functional mitochondria may play an active role in cancer development and the patient's response to radiotherapy/chemo-radiotherapy.

| S-EPMC3683038 | biostudies-literature

Obstructing primary squamous cell carcinoma of caecum: A case report

Project description:Squamous cell carcinoma (SCC) of the colon is a rare malignancy and usually a pathological surprise. Clinical presentation is usually very similar to adeno carcinoma variety. We report a case of a 56 year old male with primary SCC of caecum presenting as small bowel obstruction and managed with surgery and adjuvant chemotherapy. It was labelled as primary SCC after extensive search for other primary malignant SCC in body with possible metastasis to caecum. Due to rarity of the disease and lack of literature standardized protocols for neo-adjuvant and adjuvant therapy are not available. Highlights • Primary squamous cell carcinoma colon-a rare entity.• Usually a pathological surprise.• Very similar presentations like adeno counterpart.• Metastasis from other sites must be ruled out.• Treatment not standardized yet.

| S-EPMC9207086 | biostudies-literature

Invasive cutaneous squamous cell carcinoma of scalp: A case report.

Project description:Introduction and importanceCutaneous Squamous cell carcinoma(cSCC) represents approximately 16% of scalp tumors. Overall, cSCC is significantly more common in the oropharyngeal mucosa than the skin. Smoking is a risk factor for mucosal lesions, risk factors for developing cutaneous SCC include age, ultraviolet light exposure, chronic scarring, history of ionizing radiation, androgenetic alopecia (in men), and immunosuppression. The rates of bone invasion in cutaneous SCC have not been well noted in the literature.Case reportWe report a case of 57-year-old man with invasive squamous cell carcinoma of scalp with extension into bone, cortex and dura mater. Gross total removal of the tumor with extension of bony defect followed by repair of dura and repair of skin defect by VY advancement flap was done under general anaesthesia. At a 3-month follow-up, his wound is well healed. No evidence of metastasis is noted.DiscussionCutaneous squamous cell carcinoma (cSCC) is the second most common non-melanoma skin cancer, and its incidence is steadily increasing. Although the majority of cSCCs are successfully eradicated by surgical excision, advanced cSCC poses a significant risk in terms of morbidity, impact on quality of life, and risk of death.ConclusionsInvasive cutaneous squamous cell carcinoma of scalp is a rare entity. Invasion to bone, cortex, and dura mater is furthermore rare. Therefore, proper management of advanced cSCC is of the utmost importance since local invasion, delayed diagnosis, and metastasis contribute to increased costs and morbidity. A multi-disciplinary team approach is recommended.

| S-EPMC9577594 | biostudies-literature

Canine oral squamous cell carcinoma

Project description:An investigation of canine oral squamous cell carcinomas

2024-06-30 | PRJEB77007 | EVA

Cutaneous squamous cell carcinoma with secondary parotid metastasis: a case report.

Project description:BackgroundMajority of cutaneous squamous cell carcinoma (cSCC) originate in the head and neck region, with 1-3% have been found to have parotid or periparotid lymph nodes metastases. The significance of secondary parotid metastases from cSCC lies in its propensity of cervical lymph node spread and distant metastases leading to a dismal prognosis, and therefore the importance of early diagnosis and prompt treatment.Case descriptionAn 85-year-old gentleman with prior history of right temporal squamous cell carcinoma (SCC) presented with a new onset left cheek cSCC. He underwent complete excision with clear margin. Four months following initial surgery, he developed ulcerative mass at left angle of mandible. CT scan revealed an underlying left parotid gland tumor, which was confirmed to be SCC by fine needle aspiration cytology (FNAC). He was then surgically treated with nerve-sparing total parotidectomy, modified radical neck dissection, soft tissue reconstruction using free anterolateral thigh fasciocutaneous flap and adjuvant radiotherapy with satisfactory outcomes.ConclusionsAlthough rare, metastatic cutaneous SCC to parotid gland represents a unique group of locally advanced cutaneous SCC. Multimodal treatment approach consisting of total parotidectomy, ipsilateral neck dissection and adjuvant radiotherapy has been shown to improve the locoregional control of the disease and limit the propensity to distant metastasis.

| S-EPMC9929665 | biostudies-literature

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