Cell Carcinoma In Young Patients Research Articles

Genetic characteristics of advanced oral tongue squamous cell carcinoma in young patients

ObjectivesWe aimed to investigate genetic alterations in oral tongue squamous cell carcinoma (OTSCC) based on age and the clinical significance of these alterations in young OTSCC patients. Materials and MethodsWe detected genetic alterations in 44 cases of advanced OTSCC through next-generation sequencing and analyzed and compared patients either younger or older than 45 years. Further analysis was conducted on a validation group of 96 OTSCC patients aged ≤ 45 years to examine the clinical and prognostic associations of TERT promoter (TERTp) mutations. ResultsTP53 mutation was the most common genetic alteration in advanced OTSCC (88.6%), followed by TERTp mutation (59.1%), CDKN2A mutation (31.8%), FAT1 mutation (9.1%), NOTCH1 mutation (9.1%), EGFR amplification (18.2%), and CDKN2A homozygous deletion (4.5%). TERTp mutation was the only genetic alteration significantly enriched in young patients (81.3% in young versus 46.4% in older; P < 0.024). Within the validation group of young patients, TERTp mutation was identified in 30 cases (30/96, 31.3%) and tended to be related to both smoking and alcohol consumption (P = 0.072), higher stage (P = 0.002), more frequent perineural invasion (P = 0.094), and worse overall survival (P = 0.012) than wild type. ConclusionOur findings suggest that TERTp mutation is more frequent in young patients with advanced OTSCC and is associated with worse clinical outcomes. Therefore, TERTp mutation may serve as a prognostic biomarker for OTSCC in young patients. The findings of this study may help in developing personalized treatment strategies for OTSCC based on age and genetic alterations.

Еfficiency of Basal Cell Diagnosis Skin Carcinomas Using Dermatoscopy in Combination with Ultrasound (Literature Review; Description of Clinical Cases)

Introduction. Basal cell carcinoma of the skin is the most common skin cancer in people with fair skin color. Early detection of basal cell carcinoma and proper surgical approach are crucial to reduce the incidence of this tumor. Visual examination is the first screening tool used by clinicians, but sometimes it is not enough to differentiate and determine treatment tactics. Therefore, non-invasive methods such as dermatoscopy and ultrasonography of the skin have recently become widely used, which provide a clear diagnosis, fully correlate with the pathomorphological diagnosis and allow determining the invasiveness of the process and the scope of surgery. The aim of the study. To establish the effectiveness of the diagnosis of basal cell carcinoma of the skin using dermatoscopy in combination with ultrasound, to clarify and justify the feasibility of using a double diagnostic test "Dermatoscopy + Ultrasound" in the diagnosis of skin tumors for future surgery. Materials and methods. Two cases of basal cell basal cell carcinoma in young patients with atypical localization, dermatoscopic and ultrasonographic parameters, correlation with pathomorphological diagnosis are described. Dermatoscopic parameters were evaluated according to G. Kittler's algorithm, skin ultrasound was performed on an expert class device "ACUSON Juniper Ultrasound System" with color and energy Doppler modes by a linear multifrequency transducer (5-17MHz) according to the original protocol developed by G.Alakhverdian. Results. A feature of the described clinical cases is the young age of patients (21 and 29 years), which is an atypical phenomenon in relation to the manifestations of BCC and indicates that recently basal cell carcinoma begins to occur at a young age and its typical location changes. The obtained data of dermatoscopic and ultrasonographic examination confirm specific clinical symptoms and are completely correlated with pathomorphological diagnosis. Conclusions. Dermatoscopy in combination with skin ultrasonography are reliable non-invasive techniques that allow real-time detection of clinical and subclinical lesions and should be used to diagnose and monitor for all skin cancers. Keywords: basal cell carcinoma of the skin, dermatoscopy, ultrasonography of the skin.

Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy.

There is an increasing worldwide incidence of patients under 50 years of age presenting with oral squamous cell carcinoma (OSCC). The molecular mechanisms driving disease in this emerging cohort remain unclear, limiting impactful treatment options for these patients. To identify common clinically actionable targets in this cohort, we used whole genome and transcriptomic sequencing of OSCC patient samples from 26 individuals under 50 years of age. These molecular profiles were compared with those of OSCC patients over 50 years of age (n=11) available from TCGA. We show for the first time that a molecular signature comprising of EGFR amplification and increased EGFR RNA abundance is specific to the young subset of OSCC patients. Furthermore, through functional assays using patient tumor-derived cell lines, we reveal that this EGFR amplification results in increased activity of the EGFR pathway. Using a panel of clinically relevant EGFR inhibitors we determine that an EGFR-amplified patient-derived cell line is responsive to EGFR inhibition, suggesting EGFR amplification represents a valid therapeutic target in this subset of OSCC patients. In particular, we demonstrate sensitivity to the second-generation EGFR tyrosine kinase inhibitor afatinib, which offers a new and promising therapeutic avenue versus current EGFR-targeting approaches. We propose that testing for EGFR amplification could easily be integrated into current diagnostic workflows and such measures could lead to more personalized treatment approaches and improved outcomes for this younger cohort of OSCC patients.

Molecular profiling of basal cell carcinomas in young patients

BackgroundBasal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While variants in the sonic Hedgehog and cell cycle regulation pathways account for the majority of BCC cases in adults, the molecular etiology of BCC in young patients is unelucidated yet. This study aims to investigate the molecular profile of BCC in the young population.Methods28 tumors belonging to 25 Lebanese patients under the age of 40, presenting different stages of BCC and diagnosed at Hôtel Dieu de France—Saint Joseph University Medical Center were included in this study. A selected panel of 150 genes involved in cancer was analyzed by Next Generation Sequencing (NGS) in the 28 included tumors.ResultsGenetic variants detected in more than 5% of the reads, with a sequencing depth ≥ 50x, were selected. Two hundred and two genetic variants in 48 different genes were detected, with an overall average sequencing depth of 1069x. Among the 28 studied tumors, 18 (64.3%) show variations in the PTCH1 gene, 6 (21.4%) in TP53 and 3 (10.7%) in SMO.ConclusionsThis is the first study reporting NGS-based analysis of BCC in a cohort of young patients. Our results highlight the involvement of the hedgehog and cell cycle regulation pathways in the genesis of BCC in the general population. The inclusion of a larger cohort of young patients is needed to confirm our findings.

Oral squamous cell carcinoma in "young" patients

Aim of the study — to provide for medical oncologists and surgeon, who specialize in treatment of head and neck oncology patients, the most recent information about incidence and feature of oral squamous cell carcinoma (OSCC) in young patients.Material and мethods. Pubmed, ScienceDirect are used for literature search. Data of world literature published since 1983 till 2021 and contain information about incidence, epidemiology, clinic, treatment and prognosis in OSCC in young patients. The data of retrospective and prospective clinical trials were studied.Results. Determined the relevance of this problem and described incidence and epidemiology. Based on the analysis of the most recent publications, the authors provided data on clinical picture and modern approaches to the treatment and prognosis of OSCC in young patients by comparison with old patients.Conclusion. Over the past 30 years, the incidence of oral squamous cell carcinoma in young patients has been increasing worldwide while the incidence of classical oral cancer has been decreasing and no clear etiology has been identified. In this review we analyzed and synthesized the literature regarding early onset OSCC. Since 1983, the first assumptions about the uniqueness of the etiology and clinical picture of OSCC in young patients have appeared; till this day, this topic remains relevant for head and neck oncologists. Understanding the biology of the OSCC in young patients can be crucial in determining the prevention of disease, treatment and prognosis for patients.

Oral tongue squamous cell carcinomas in young patients according to their smoking status: a GETTEC study.

Incidence of oral tongue squamous cell carcinoma (OTSCC) is increasing, especially in young adults, despite decreasing tobacco and alcohol consumption. This multicentric retrospective study of 185 young adults with OTSCC (median follow-up 43months), investigated risk factors, tumour characteristics and oncological outcomes according to the smoking status. Overall, 38% of patients were smokers (S). Non-smokers (NS) were significantly younger than S. Sex ratios were 1.1 for N and 1.8 for S. NS patients were less frequently cannabis or alcohol users than S, but were more likely to have a history of leukoplakia. Second primaries were observed in NS (4.4%) and in S (12.7%). Despite more frequent local relapse in NS (p = 0.018), there was no difference in diagnostic stage and overall survival between groups. OTSCC affects differently young S and NS patients suggesting the existence of a specific clinical entity of OTSCC in non-smoking young adults.

The clinical study of tongue squamous cell carcinoma in young patients

The clinical study of tongue squamous cell carcinoma in young patients

Head and neck squamous cell carcinoma in young patients: a 26-year clinicopathologic retrospective study in a Brazilian specialized center.

Background To describe the clinicopathologic profile of young patients with head and neck squamous cell carcinoma (HNSCC) and compare to middle-aged and elderly adults. Material and Methods Patients’ individual records were reviewed for clinicopathologic data. Eighty-nine patients with age 18-45 years old met the inclusion criteria of the study. Two additional groups of middle-aged (n=89) and old (n=89) adults were set to comparative analysis. Results Young patients represented 11.9% of all patients diagnosed with HNSCC. Women were more affected by HNSCC in the young and elder groups (p= 0.04), and young patients were more prone to be non-smokers (p= 0.01) and have lymph node metastasis at the time of diagnosis (p=0.04). In the young group, patients diagnosed with the disease in advanced stages were more prone to have a positive familial history of cancer (p= 0.04), a positive status of alcohol consumption (p= 0.03), and to be heavy drinkers (p= 0.01). Survival was not different for the young group in comparison to the other groups. Conclusions HNSCC in young patients had a different profile when compared to older patients, especially regarding sex and exposure to the classic risk factors for this disease. The survival of the young group is similar to the older groups and advanced clinical stage is predictor of worse survival. Key words:Mouth neoplasms, young adult, epidemiology.

Clinicopathological features and prognosis of esophageal squamous cell carcinoma in young patients.

Esophageal squamous cell carcinoma (ESCC) in the young patients is comparatively rare and has not been well studied. We analyzed the clinical and survival data of 127 ESCC patients<40 years at a single high-volume center and compared with those of 4109 ESCC patients≥40 years who underwent surgery within the same period in this study. The average age was 36.5±0.2 years for the young patient group, with the youngest aged 26 years. Young patients had a higher rate of family history, longer tumors, and a more advanced pT category than their older counterparts. Moreover, more patients in the young group underwent incomplete resection (19.7% vs. 8.9%, P<0.001) and adjuvant therapy (40.9% vs. 30.8%, P=0.015). The overall survival (OS) and cancer-specific survival (CSS) between patients<40 years and patients≥40 years were not significant in the entire group. In the subgroup analysis, the OS and CSS rates for patients<40 years were significantly worse than patients≥40 years in subgroups of pTNM stage III and incomplete resections. In conclusions, young patients with ESCC were more likely to have family history and present with advanced disease. The survival for young patients with ESCC was poorer than their older counterparts in patients with later stage diseases.

Oral Squamous Cell Carcinoma in Young Patients–A Case-Control Analysis

A subgroup of younger patients develop squamous cell carcinoma (SCC) of the oral cavity without identifiable risk factors. Controversy exists in the literature regarding the tumor biology and pathogenesis in this group of patients and its effects on prognosis and survival. A retrospective matched control study describing the outcome of 21 previously untreated oral cavity SCC patients less than 45 years old treated at a single institution from 2008 to 2016 was performed. The young patient group was compared with a control group of previously untreated patients greater than 45 years old matched for oral cavity subsite, pathologic TNM staging, and year of treatment. There was an equal distribution of T stages in the younger patient group with 7 T1, 8 T2, and 6 T3/T4. Younger patients were more likely to be never smokers (P= .017). There was no difference between younger and older patients with regards to overall survival (P = .771) and disease-free survival (P = .970). There was no statistical difference in adjuvant treatment modalities received between the two cohorts. The patterns of failure were similar between the two groups. All 9 young patients that recurred are deceased, including 2 patients who committed suicide. Young patients with oral cavity SCC do not have a worse prognosis than a matched older patient group in this case-controlled study. Further research is necessary to determine the pathogenesis of oral cavity SCC in young patients without identifiable risk factors and identify the subset of young oral cavity SCC patients with aggressive disease. Further support and clinical interventions are necessary to identify and prevent psychosocial distress in young head and neck cancer patients.

Molecular basis of oral squamous cell carcinoma in young patients: Is it any different from older patients?

Oral squamous cell carcinoma (OSCC) is the commonest subtype of oral cancer, mainly affecting older patients. It used to be a rare disease among individuals younger than 40years, but recently increased incidences in this age group are being reported worldwide. The pathogenesis of OSCC affecting young patients remains controversial, and the well-known etiological factors for oral cancer, tobacco, and alcohol use are believed to play a minor role in the carcinogenesis of the neoplasm, suggesting that the etiology and the molecular basis of OSCC may differ between younger and older patients. Although several molecular markers and chromosomal abnormalities have been demonstrated to differ between both groups, most of the studies have failed to find significant differences. Moreover, divergent results have also been obtained regarding the presence of high-risk human papillomavirus infection in OSCC of young patients. Given these contradictory results and the limited methodological approaches of the majority of the studies, the exact difference between both age groups remains to be fully established. In this review, we evaluate the available data to establish the current evidence that might support the hypothesis that the molecular basis of OSCC in young patients (especially those under 40years) differ from the older patients.

Re-evaluation of 33 'unclassified' eosinophilic renal cell carcinomas in young patients.

We sought to determine if some unclassified renal cell carcinomas (RCCs) in children and young adults that are characterised by predominantly eosinophilic cytoplasm are related to the recently described succinate dehydrogenase (SDH)-deficient RCC, fumarate hydratase (FH)-deficient RCC or eosinophilic solid and cystic (ESC) RCC. We reviewed 33 unclassified RCCs with predominantly eosinophilic cytoplasm in patients aged 35years or younger. Immunohistochemistry (IHC) for SDHB, FH and CK20 (a marker of ESC) was performed in all cases. IHC for 2-succinocysteine (2SC) was performed on RCC with loss of FH labelling. Four RCC (12%) (median age 18years) demonstrated loss of FH labelling as well as aberrant 2SC labelling, and were thus classified as FH-deficient RCCs. Importantly, none of these cases demonstrated the characteristic macronucleoli typical of FH-deficient RCC. Eight RCC (24%) (median age 20.5years) demonstrated loss of SDHB and were reclassified as SDH-deficient RCCs. Importantly, only four of eight SDH-deficient RCC demonstrated the characteristic cytoplasmic vacuoles and inclusions of typical SDH-deficient RCC. Ten RCC (30%) (median age 27years) were reclassified as ESC RCCs. Four of 10 ESC RCC were multifocal (one bilateral), four of 10 ESC RCC occurred in males and one patient presented with liver and lung metastases, all not described previously in ESC. Eleven RCC (33%) remained unclassified. Pathologists should have a low threshold for performing FH, SDHB and CK20 IHC when confronted with unclassified eosinophilic RCC or 'oncocytoma' in young patients.

Basal Cell Carcinoma in Young Patients

Basal cell carcinoma (BCC) is the most common type of skin cancer, which has a direct relation with chronic sun exposure. Other risk factors include fair skin and eyes, freckling, family history, genetic disorders, immune suppression, ionizing radiation, arsenic, and poly-aromatic hydrocarbons. Basal cell carcinoma usually progresses slowly. Lesions usually seen over sun exposed areas, most commonly on the face and neck. Local invasion may occur but metastases rarely. The incidence of BCC peaks in the seventh decade of life. BCC is an uncommon lesion during childhood, youth and pregnancy. However it was rarely reported in childhood. BCC seen in the childhood can be inherited with diseases such as xeroderma pigmentosum, albinism, Bazex syndrome, and basal cell nevus syndrome, or after high dose radiotherapy. In this study we are presenting a 14-year-old girl with a BCC on the right popliteal region and a 23-year-old pregnant woman with a BCC on the nasal tip. Both patients were treated with total excision and there was neither recurrence nor any complication during follow-up.

Management of renal cell carcinoma in young patients and patients with hereditary syndromes.

Individuals that present with renal cell carcinoma at an early age deserve special attention because they are more likely to harbor an inherited predisposition and may require unique treatment strategies. In recent years, there has been a significant increase in the number of characterized hereditary syndromes, many of which may predispose to kidney cancer. Although hereditary kidney cancer accounts for only 5-8% of kidney cancers, it should be considered in anyone with an early age of onset. These uncommon presentations should prompt consideration for genetic evaluation for germline alterations or somatic alterations associated with translocations. Treatment of kidney cancer in young individuals must also consider the late risks of nephron loss, the uncertainty with long-term follow-up after ablation, and the need for years of surveillance not only for the treated tumor but for de novo lesions in a patient with a greater risk of multifocality. Early age of onset should raise concern for a hereditary renal cell carcinoma syndrome and should prompt consideration for genetic counseling to review personal and family history and determine if testing is indicated. Despite advancements in this field, significant work remains to fully delineate the management strategies for young individuals with and without hereditary cancer syndromes.

Squamous-cell carcinoma in a female patient suffering from recessive dystrophic epidermolysis bullosa

The article describes a case of squamous-cell carcinoma in a female patient aged 30 suffering from a rare inherited disease -recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by a high risk of squamous cell carcinoma in young patients. The most frequent form is a highly differentiated form of cancer characterized by an aggressive course with the early development of metastases and fast progression, which is the most frequent cause of death in RDEB patients. The described case of squamous cell carcinoma in a young female RDEB patient emphasizes the role of early tumor diagnostics.

High Frequency of Malignant Transformation of Ovarian Mature Teratoma into Squamous Cell Carcinoma in Young Patients in Northeast Brazil.

The malignant behavior of an ovarian teratoma is related to immaturity, or rarely to the malignant transformation of a somatic component in a mature teratoma (MT). The aim of this work was to review 189 consecutive ovarian teratomas diagnosed between 2006 and 2010 at a public referral center for cancer in Brazil, focusing on cases of MT with malignant transformation. MTs with transformation to squamous cell carcinoma (SCC) were further analyzed by immunohistochemistry for p16 staining. The median age of all patients was 36 yr (mean age, 39.6 yr; SD±4.9). Mature and immature teratomas represented 95.7% (181/189) and 4.2% of the cohort, respectively. Immature teratoma occurred mainly in adolescents under 18 yr. Malignant transformation of the somatic component in MT was observed in 10 of 181 patients (5.5%). SCC was the most common subtype (4/10), followed by differentiated thyroid carcinoma in struma ovarii(3/10), adenosquamous carcinoma (1/10), mucinous intestinal-type adenocarcinoma (1/10), and a well-differentiated neuroendocrine tumor/carcinoid (1/10). Two of 4 SCC cases were strong and diffusely positive for p16, and 2 were negative. In 5 further patients, MT was synchronously observed with other benign and malignant ovarian neoplasms in the ipsilateral ovary (3 mucinous cystadenomas and 1 Brenner tumor) and 1 cystadenocarcinoma in the contralateral ovary. MTs with malignant transformation were larger than those without transformation (P<0.001), but did not demonstrate any association with age. Indeed, our patients with SCC in MT were much younger [median and mean age, 37 and 38 yr (SD±4.9), respectively] than those described previously. As p16 is considered a surrogate marker for HPV infection, the malignant transformation of MT into SSC in young patients raises the possibility of HPV infection as a risk factor in some of these cases. However, molecular studies are needed to clarify the possible role of HPV in the malignant transformation of MT to SCC.

Clinical findings and risk factors to oral squamous cell carcinoma in young patients: A 12-year retrospective analysis.

BackgroundIn recent years have been observed an increased incidence of OSCC in young individuals. Based on this, the aim this study was to describe the clinical characteristics of all cases of OSCC in younger patients, diagnosed in two oncology referral hospitals, at the northeast region of Brazil within a 12-year period.Material and MethodsData regarding general characteristics of patients (age, gender and tobacco and/or alcohol habits) and information about the lesions (tumor location, size, regional lymph node metastasis, distant metastasis and clinical stage) were submitted to descriptive and inferential analysis. Statistical analysis included Chi-square and Fisher’s exact tests (P<0.05).ResultsOut of 2311 registered cases of OSCC, 76 (3.3%) corresponded to OSCC in patients under 45 years old. Most of them were male (n=62, 81.6%) and tobacco and/or alcohol users (n=40, 52.8%). The most frequent site was the tongue (n=31, 40.8%), with predominance of cases classified at advanced clinical stage (III and IV, n = 46, 60.5%). The advanced stage of OSCC (III and IV) was statistically associated with male gender (P=0.035), lower education level (P=0.007), intraoral site(P<0.001), presence of pain symptomatology (P=0.006), and consumption of tobacco and/or alcohol (P=0.001).ConclusionsThe profile of OSCC in young patients resembles to the commonly characteristics reported for overall population. The late diagnosis in young patients usually results in poor prognosis, associated with gender, harmful habits and tumor location. Although prevalence is low, stimulus to prevention and to early diagnosis should be addressed to young individuals exposed to risk factors. Key words:Squamous cell carcinoma, head and neck neoplasms, risk factors, young patients, prognosis.

Oral squamous cell carcinoma in young patients: our experience

Oral squamous cell carcinoma in young patients: our experience

Renal cell carcinoma in young patients: a review of recent literature.

Renal cell carcinoma is most common in patients in the seventh decade of life. However, renal cell carcinoma (RCC) patients under the age of 40 represent 3-7% of all renal tumors. These young patients develop RCC from a variety of mechanisms including genetic syndromes, heritable mutations, and sporadic mutations. This population encompasses a distinct clinical entity that requires early identification and adjustments in standard practices including sometimes-aggressive surgical measures in order to improve oncologic management.

Association of immunoexpression of the galectins-3 and -7 with histopathological and clinical parameters in oral squamous cell carcinoma in young patients.

An increasing incidence of oral squamous cell carcinoma (OSCC) in individuals younger than 45 years has been observed in recent years. OSCC in younger patients differs in terms of biological behavior and prognosis with the disease being more aggressive than in older patients. The aim of this study was to analyze the immunohistochemical expression of galectins-3 and -7 in 32 cases of OSCC in young patients and to correlate this expression with clinical and morphological parameters. All cases of OSCC of the sample were diagnosed at oncology referral hospitals in Paraíba, Brazil, between 2002 and 2012. Clinical data were obtained from the patient records. Histological malignancy grading systems proposed by Bryne et al. (J Pathol 166:375-381, 1992) and the World Health Organization (In: Pathology and genetics of head and neck tumours: Word Health Organization classification of tumours, 2005) were used for morphological analysis. Immunohistochemistry was performed by the streptavidin-biotin technique using anti-galectin-3 and -7 antibodies. The results were analyzed statistically by the Chi-squared and Fisher exact tests (p < 0.05). Immunoexpression of galectin-3 was observed in 65.6 % of the cases analyzed, but showed no significant association with any of the variables studied (clinical staging; histological malignancy grading systems). Immunoexpression of galectin-7 was observed in 96.9 % of cases and was significantly associated with histological malignancy grading systems (p < 0.05). In conclusion, the results suggest the use of galectin-7 as marker of biological behavior and tumor progression in OSCC in young patients.