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INTRODUCTION AND IMPORTANCE: The occurrence of more than one tumor originating from the same or different organs is the definition of multiple primary tumors. According to the time of diagnosis, these tumors are classified into two types: metachronous and synchronous tumors. Trichoblastoma is a rare benign skin tumor that is rarely involved in multiple primary tumors, especially in patients with breast cancer. CASE PRESENTATION: A 60-year-old male with left breast and lateral chest wall masses. Lastly, he has been diagnosed with invasive ductal carcinoma of the left breast and chest wall trichoblastoma as metachronous primary tumors with no significant genetic background. CLINICAL DISCUSSION: With the development in the medical field, such tumors are being encountered more. Some authors suggest a relationship between these tumors and genetic mutations. Although rare trichoblastomas can be transformed into malignant tumors and get metastasized. CONCLUSION: The diagnosis and management of primary tumors can be challenging in some cases. Researchers should focus on further exploration of the genetic bases and risk factors of such tumors.

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BACKGROUND: Obesity is one of the main causes of morbidity and mortality worldwide. More than 120 genes have been shown to be associated with obesity related phenotypes. The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia. METHODS: The genotypes of rs1800592, rs10011540 and rs3811791 (UCP1 gene) and rs1805081 and rs1805082 (NPC1 gene) were determined in a total of 492 subjects using TaqMan chemistry by Real-time PCR. In addition, capillary sequencing assay was performed to identify two specific polymorphisms viz., rs45539933 (exon 2) and rs2270565 (exon 5) of UCP1 gene. RESULTS: A significant association of UCP1 polymorphisms rs1800592 [OR, 1.52 (1.10-2.08); p = 0.009] was observed in the obese cohort after adjusting with age, sex and type 2 diabetes. Further BMI based stratification revealed that this association was inconsistent with both moderate and extreme obese cohort. A significant association of UCP1 polymorphisms rs3811791 was observed only in the moderate-obese cohort [OR = 2.89 (1.33-6.25); p = 0.007] but not in the extreme-obese cohort indicating an overlying genetic complexity between moderate-obesity and extreme-obesity. The risk allele frequencies, which were higher in moderate-obese cohort, had abnormal HDL, LDL and triglyceride levels. CONCLUSION: The rs1800592 and rs3811791 of UCP1 gene are associated with obesity in general and in the moderate-obese group in particular. The associated UCP1 polymorphisms in the moderate-obese group may regulate the impaired energy metabolism which plays a significant role in the initial stages of obesity.

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Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad , Obesidad/genética , Polimorfismo Genético , Proteína Desacopladora 1/genética , Adulto , Alelos , Índice de Masa Corporal , Proteínas Portadoras/genética , Proteínas Portadoras/metabolismo , Estudios de Casos y Controles , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/fisiopatología , Femenino , Expresión Génica , Frecuencia de los Genes , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Persona de Mediana Edad , Proteína Niemann-Pick C1 , Obesidad/diagnóstico , Obesidad/metabolismo , Obesidad/fisiopatología , Riesgo , Arabia Saudita , Índice de Severidad de la Enfermedad , Triglicéridos/sangre , Proteína Desacopladora 1/metabolismo

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Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that fetal hemoglobin (HbF) levels play a major role as an ameliorating factor. Investigation of genetic variants have identified several genes to be the principal influencers of HbF regulation. Here, we further elucidated the association of rs4527238 and rs35685045 of ANTXR1 genes in the context of HbF level variance in sickle cell anemia patients of the Arab-Indian haplotype. Samples from 630 sickle cell anemia patients were analyzed for the mutations at 2 specific locations of the ANTXR1 gene by TaqMan®-based real-time PCR. The CC genotype (p = 0.018) of rs4527238 and the TT genotype (p = 0.048) of rs35685045 of ANTXR1 were found to be significantly associated with low HbF expression. The frequency of the CC genotype of rs4527238 was observed to be high in the low HbF patient group compared to the high HbF group (p = 0.009). Likewise, the frequency of the TT genotype of rs35685045 was also high among the low HbF group (p = 0.017). The ANTXR1 genetic mutations and the association with HbF expression in the Arab-Indian haplotype sickle cell patients revealed that the ANTXR1 gene may be a major HbF modulator leading to potential therapeutic options that should be further explored.

Asunto(s)

Anemia de Células Falciformes/patología , Pueblo Asiatico/genética , Hemoglobina Fetal/metabolismo , Proteínas de Neoplasias/genética , Receptores de Superficie Celular/genética , Alelos , Anemia de Células Falciformes/genética , Genotipo , Haplotipos , Humanos , Intrones , Proteínas de Microfilamentos , Polimorfismo de Nucleótido Simple

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BACKGROUND: Epidermal growth factor receptor (EGFR) is a commonly altered gene that is identified in various cancers, including head and neck squamous cell carcinoma (HNSCC). Therefore, EGFR is a promising molecular marker targeted by monoclonal antibodies and small molecule inhibitors targeting the tyrosine kinase (TK) domain. OBJECTIVE: The objective of this study was to investigate the spectrum of mutations in exons 18, 19, 20, and 21 of the EGFR gene in HNSCC patients. MATERIALS AND METHODS: This retrospective study included 47 confirmed HNSCC cases. Mutations in the TK domain, exons 18, 19, 20, and 21 of the EGFR gene, were detected by Scorpion® chemistry and ARMS® technologies on Rotor-Gene Q real-time polymerase chain reaction. RESULTS: The tumors exhibited EGFR-TK domain mutations in 57% of cases. Four cases of T790M mutations were reported for the first time among HNSCC patients. Out of the total mutations, L861Q (exon 21), exon 20 insertions and deletions of exon 19 accounted for the majority of mutations (21%, 19%, and 17%, respectively). EGFR mutation status was correlated with the higher grade (P=0.026) and advanced stage (P=0.034) of HNSCC tumors. CONCLUSION: Higher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases.