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The 90-gene expression assay results of specific cases. a Esophagus lesion and b lung lesion

The 90-gene expression assay results of specific cases. a Esophagus lesion and b lung lesion

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Background The incidence of multiple primary malignant tumors (MPMTs) is rising due to the development of screening technologies, significant treatment advances and increased aging of the population. For patients with a prior cancer history, identifying the tumor origin of the second malignant lesion has important prognostic and therapeutic implica...

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... The treatment methods of malignant tumors were developed rapidly, such as radiotherapy, chemotherapy, endocrine therapy, targeted therapy and immunotherapy and so on, the survival rate of MPMTs patient is increasing, but the median survival of neuroendocrine combined with hepatic cancer was only about 17.8 months, and the quality of life is not well, hepatitis viral infection and tumor recurrence time maybe the most influencing factor of survival time. 7,8 By now, there are no standard treatment guidelines for MPMTs. In this patient, when the liver masses were discovered, biopsy confirmed the diagnosis of small cell neuroendocrine carcinoma, according to the imaging examination, it was divided into stage IV, post one cycle of chemotherapy, the mass of lung was smaller, but the liver masses were stable. ...
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This study presents a case of dual primary liver cancer involving small cell neuroendocrine carcinoma and hepatocellular carcinoma. The 58-year-old Chinese male patient, who has a medical history of viral hepatitis B, presented with right upper abdominal pain persisting for one month. Imaging studies indicated the presence of multiple liver masses in segments V and VII–VIII, as well as a mass in the left lung. Subsequent hepatic biopsy performed on both segments confirmed the presence of hepatocellular carcinoma in segment V and small cell neuroendocrine carcinoma in segment VII–VIII. After undergoing one cycle of chemotherapy, the lung mass exhibited a reduction in size, while the liver masses showed an inadequate response. Subsequently, the patient underwent Transcatheter Arterial Chemoembolization (TACE) and Hepatic Artery Infusion Chemotherapy (HIAC), resulting in partial remission (PR). However, the patient was diagnosed with brain metastasis and subsequently treated with Sorafenib and Tirelizumab, a Programmed Death 1 (PD-1) immune checkpoint inhibitor. The efficacy evaluation indicated stability, and no severe adverse effects were observed at the time of writing. The patient’s survival time was 16 months.
... The treatment methods of malignant tumors were developed rapidly, such as radiotherapy, chemotherapy, endocrine therapy, targeted therapy and immunotherapy and so on, the survival rate of MPMTs patient is increasing, but the median survival of neuroendocrine combined with hepatic cancer was only about 17.8 months, and the quality of life is not well, hepatitis viral infection and tumor recurrence time maybe the most in uencing factor of survival time (7)(8). By now, there are no standard treatment guidelines for MPMTs. ...
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This study presents a case of dual primary liver cancer involving small cell neuroendocrine carcinoma and hepatocellular carcinoma. The patient, a 58-year-old Chinese male with a medical history of viral hepatitis B, presented with right upper abdominal pain for one month. Imaging studies revealed multiple liver masses in segments SⅤ and SⅦ-Ⅷ, as well as a left lung mass. Hepatic biopsy was performed on both segments, and subsequent pathological analysis confirmed the presence of small cell neuroendocrine carcinoma and hepatocellular carcinoma in segments SⅤ and SⅦ-Ⅷ, respectively. Following one cycle of chemotherapy, the lung mass exhibited a reduction in size, whereas the liver masses demonstrated an inadequate response to chemotherapy. Subsequently, the patient underwent Transcatheter Arterial Chemoembolization (TACE) and Hepatic Artery Infusion Chemotherapy (HIAC), resulting in partial remission (PR). However, the patient was diagnosed with brain metastasis and subsequently treated with Sorafenib and a Programmed Death 1 (PD-1) immune checkpoint inhibitor, specifically Tirelizumab. The efficacy evaluation indicated stability, and no severe adverse effects were observed at the time of writing. The patient's survival time was 11 months.
... To date, multiple primary neoplasms have been reported in only a few cases [6]. Each malignancy must be histopathologically diagnosed and histopathologically distinct, and each tumor must be ruled out for the possibility of metastasis [7]. Cancers occurring within 6 months of the initial primary cancer are called synchronous cancers, while cancers occurring more than 6 months later are termed metachronous cancers [8]. ...
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Multiple primary malignancies (MPMs) are defined as the coexistence of at least two unrelated primary malignancies in a single patient, with the tumors differing in their histology. MPMs in the same patient, when present within 6 months of the primary tumor diagnosis, are considered a synchronous occurrence. In this case report, we describe a 61-year-old man who presented with three distinct tumors concurrently in 2021: noninvasive urothelial carcinoma of the bladder, diffuse large B-cell lymphoma, and squamous cell carcinoma of the lung. We discuss the process of therapy and briefly review the literature. MPMs are increasing in incidence, requiring an interdisciplinary approach to diagnosis and treatment.
... In a retrospective cohort of 609 clinical specimens, the 90-gene expression assay demonstrated an overall agreement of 90.4% for primary tumors and 89.2% for metastatic tumors. Several studies also demonstrated the excellent performance of the 90-gene expression assay in differentiation diagnosis of triple-negative breast cancer, metastatic brain tumor, squamous cell carcinoma, multiple primary tumors, etc. [11][12][13][14]. In the present study, we conducted a large-scale, multicenter study to evaluate the performance of the 90-gene expression assay for tumor tissue of origin identification in real clinical settings. ...
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Background Once malignancy tumors were diagnosed, the determination of tissue origin and tumor type is critical for clinical management. Although the significant advance in imaging techniques and histopathological approaches, the diagnosis remains challenging in patients with metastatic and poorly differentiated or undifferentiated tumors. Gene expression profiling has been demonstrated the ability to classify multiple tumor types. The present study aims to assess the performance of a 90-gene expression test for tumor classification (i.e. the determination of tumor tissue of origin) in real clinical settings. Methods Formalin-fixed paraffin-embedded samples and associated clinicopathologic information were collected from three cancer centers between January 2016 and January 2021. A total of 1417 specimens that met quality control criteria (RNA quality, tumor cell content ≥ 60% and so on) were analyzed by the 90-gene expression test to identify the tumor tissue of origin. The performance was evaluated by comparing the test results with histopathological diagnosis. Results The 1417 samples represent 21 main tumor types classified by common tissue origins and anatomic sites. Overall, the 90-gene expression test reached an accuracy of 94.4% (1338/1417, 95% CI: 0.93 to 0.96). Among different tumor types, sensitivities were ranged from 74.2% (head&neck tumor) to 100% (adrenal carcinoma, mesothelioma, and prostate cancer). Sensitivities for the most prevalent cancers of lung, breast, colorectum, and gastroesophagus are 95.0%, 98.4%, 93.9%, and 90.6%, respectively. Moreover, specificities for all 21 tumor types are greater than 99%. Conclusions These findings showed robust performance of the 90-gene expression test for identifying the tumor tissue of origin and support the use of molecular testing as an adjunct to tumor classification, especially to those poorly differentiated or undifferentiated tumors in clinical practice.
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BACKGROUND Multiple primary malignant tumors (MPMTs) was first described by Billroth as early as 1889, with the first report published by Warren and Gates in 1932. Since then, numerous cases have been reported. A literature review of 1104269 patients with cancer revealed that the incidence of MPMTs ranged from 0.73 to 11.7%. In recent years, however, there has been a significant upward trend in the incidence of this phenomenon, which may be associated with many different factors, including the advancement of modern diagnostic procedures facilitating the examination and diagnosis of more MPMTs, increased exposure to chemotherapy and radiotherapy that exacerbate the risk of new malignant tumors in patients with cancer, and prolonged survival of patients with cancer allowing sufficient time for the development of new primary cancers. AIM To analyze the incidence, clinical features, treatment factors, prevalence, and prognosis of patients with MPMTs in the gastrointestinal tract treated in a single center. Additionally, we analyzed the different tumor combinations, time interval between the occurrence of tumors, and staging. METHODS This retrospective cohort study analyzed 8059 patients with pathologically confirmed gastrointestinal malignant tumors treated at the Gansu Province Hospital in Lanzhou, Gansu, China between June 2011 and June 2020. Of these, 85 patients had MPMTs. The clinical features, treatment factors, prevalence, and prognosis of this latter cohort were analyzed. RESULTS The incidence of MPMTs in patients with gastrointestinal malignant tumors was 1.05% (85/8059), including 83 double primary malignant tumors and two triple primary malignant tumors of which 57 (67.06%) were synchronous MPMTs (SMPMTs) and 28 (32.94%) were metachronous MPMTs (MMPMTs). The most frequent associations were found between the rectum colon cancers within the SMPMT category and the gastric-colon cancers within the MMPMT category. For the MMPMTs, the median interval was 53 months. The overall 1-, 3- and 5-year survival rates from diagnosis of the first primary cancer were 91.36%, 65.41%, and 45.97%, respectively; those from diagnosis of the second primary cancer were 67.90%, 29.90%, and 17.37%, respectively. CONCLUSION MPMTs in the gastrointestinal tract have a high incidence and poor prognosis. Thus, it is necessary to perform both gastroscopy and colonoscopy in patients with gastrointestinal tumors. Multidisciplinary comprehensive diagnosis and treatment may improve the diagnosis rate and treatment efficiency of MPMTs.
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Cancer of unknown primary (CUP) is a heterogeneous tumor type that has been diagnosed as a metastatic tumor by pathological examination, but the primary tumor cannot be identified through comprehensive clinical examination. The incidence of CUP accounts for approximately 1%–2% of all tumors. CUP progresses rapidly and has a short course. The treatment and prognosis of patients with CUP are closely linked to the primary site. In clinical settings, identifying the primary tumor remains challenging. Scholars have focused on improving the detection rate. Novel technologies, such as gene expression profiling, high- throughput sequencing, epigenetics, and liquid biopsy, have been successively applied to identify the primary tumor of CUP accurately, sensitively and specifically. With the guidance of molecular diagnosis, targeted therapy, immunotherapy, and combination therapy will usher in the era of precision treatment for CUP, which may become a typical example for individualized therapy.
Article
Nowadays, schizophrenia is a poorly understood disease with a variety of symptoms attributed to other malconditions, and controversial diagnosis without well-defined treatment. Target therapy implies disease gene network reconstruction, gene clustering, identification of gene ontology categories and genes with the largest number of network contacts. The aim of the study is to analyze schizophrenia-associated genes, determine their position in the gene network, establish their correlation, identify key genes related to the disease, and evaluate them as target genes for drug therapy. Materials and Methods. The authors analyzed currently relevant data on schizophrenia using such online databases as OMIM, PANTHER, DAVID, GeneMANIA, STRING-DB, and GeneCards. They calculated categories of gene ontologies for 200 genes, such as biological processes, molecular functions and cellular compartments that reflect schizophrenia impact on the transmission of neuronal impulses. The authors also visualized and built gene networks containing the identified key objects and their interaction, identified the most relevant schizophrenia genes (COMT, DISC1, HTR2A, NRXN1) and a strongly connected cluster, including such genes as BDNF, SLC6A4, HTR2A, HTR2C, CHRM1, SRC, AKT, YWHAE, DISC1, DRD2, COMT, NDEL1, NOS1, CAMK28, etc. Results. The biological interpretation of the results obtained is still a great challenge, since schizophrenia is a genetically complex disease with numerous causes and triggering events. Analysis of schizophrenia-associated genes, and identification of their position in the gene network (connectivity) makes it possible to find out their interaction, determine the key genes of the disease, and evaluate their prospects as target genes for drug therapy.
Article
Primary immunodeficiency is one of the reasons for the development of primary multiple malignant tumors. The aim of the study is to examine the levels of certain hormones and their receptors in the tissue and peritumoral area of B16/F10 melanoma and Lewis lung carcinoma (LLC) in case of isolated and combined subcutaneous growth in female mice with T-cell immunodeficiency. Materials and Methods. BALB/c Nude mice were divided into groups: intact group; 2 control groups (Group 1 with B16/F10 subcutaneous inoculation, Group 2 with LLC subcutaneous inoculation); main group (animals with LLC+B16/F10 inoculation). The ELISA method was used to determine the levels of free testosterone (Tf.), estrone (E1), prolactin (PRL), estrogen receptors (REα and REβ), androgen receptors (RA) and progesterone receptors (RP4) (Cassabio, China). Statistical processing of the obtained results was carried out on a personal computer using STATISTICA 10.0, parametric Student's test and nonparametric Wilcoxon-Mann-Whitney test. Results. In the main group, life expectancy reduced due to melanoma growth by 1.8 times and LLC decrease by 2.3 times. In animals with LLC+B16/F10, compared to those with an only one tumor growth variant, estrone level in tumors decreased, but free testosterone level increased. Melanoma growth in animals with LLC+B16/F10 was accompanied by an increase in prolactin level and some sex steroid receptors in the tumor tissue, its peritumoral area, and skin not affected by the malignant process. A decrease of Lewis carcinoma in females of the main group was accompanied by a decrease of all the studied receptors and hormones both in the tumor and its peritumoral area. Conclusions. Melanoma growth is probably associated with a high prolactin level and sex steroid receptors in unaffected skin, being a source of melanocytes, the cells from which this tumor develops.