Neoplasms, Multiple Primary: Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.Neoplasms, Second Primary: Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.Adenomatosis, Pulmonary: A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)Skin Neoplasms: Tumors or cancer of the SKIN.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Li-Fraumeni Syndrome: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.Paget's Disease, Mammary: An intraductal carcinoma of the breast extending to involve the nipple and areola, characterized clinically by eczema-like inflammatory skin changes and histologically by infiltration of the dermis by malignant cells (Paget's cells). (Dorland, 27th ed)Melanoma: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Lung Neoplasms: Tumors or cancer of the LUNG.Gastrointestinal Neoplasms: Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL.Genes, p16: Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.Soft Tissue Neoplasms: Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Osteosarcoma: A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)Breast Neoplasms: Tumors or cancer of the human BREAST.Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Sarcoma: A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.Colonic Neoplasms: Tumors or cancer of the COLON.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Head and Neck Neoplasms: Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Pancreatic Neoplasms: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Incidence: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.Neoplasms: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.Neoplasms, Cystic, Mucinous, and Serous: Neoplasms containing cyst-like formations or producing mucin or serum.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Kidney Neoplasms: Tumors or cancers of the KIDNEY.
Germline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Li–Fraumeni syndromeJames A. Schlipmann Melanoma Cancer Foundation: The James A. Schlipmann Melanoma Cancer Foundation is a US-based non-profit organization with a mission to fund clinical trials and research studies, and to advance education, awareness, screenings and treatment to eventually eradicate melanoma.Targeted therapy of lung cancer: Targeted therapy of lung cancer refers to using agents specifically designed to selectively target molecular pathways responsible for, or that substantially drive, the malignant phenotype of lung cancer cells, and as a consequence of this (relative) selectivity, cause fewer toxic effects on normal cells.Osteolipochondroma: Osteolipochondroma (osteo, bone, lipos, fat, + chondros, cartilage, oma, tumor) is a cartilaginous tumor containing fatty and bony tissue.OsteosarcomaBreast cancer classification: Breast cancer classification divides breast cancer into categories according to different schemes, each based on different criteria and serving a different purpose. The major categories are the histopathological type, the grade of the tumor, the stage of the tumor, and the expression of proteins and genes.Disease registry: Disease or patient registries are collections of secondary data related to patients with a specific diagnosis, condition, or procedure, and they play an important role in post marketing surveillance of pharmaceuticals. Registries are different from indexes in that they contain more extensive data.Oncotype DX Colon Cancer AssayPedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Head and Neck Cancer Alliance: The Head and Neck Cancer Alliance (HNCA) is a non-profit organization that works with health professionals and organizations, celebrities and survivors to enhance the overall effort in prevention, treatment, and detection of cancers of the head and neck region.Squamous-cell carcinomaPancreatoblastomaAdenocarcinoma of the lung: Adenocarcinoma of the lung (pulmonary adenocarcinoma) is a common histological form of lung cancer that contains certain distinct malignant tissue architectural, cytological, or molecular features, including gland and/or duct formation and/or production of significant amounts of mucus.Incidence (epidemiology): Incidence is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time. Although sometimes loosely expressed simply as the number of new cases during some time period, it is better expressed as a proportion or a rate with a denominator.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.ABCD rating: ABCD rating, also called the Jewett staging system or the Whitmore-Jewett staging system, is a staging system for prostate cancer that uses the letters A, B, C, and D.Cystic, mucinous, and serous neoplasms: Cystic, mucinous, and serous neoplasms is a group of tumors.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.QRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.P53: Tumor protein p53, also known as p53, cellular tumor antigen p53 (UniProt name), phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice). This homolog (originally thought to be, and often spoken of as, a single protein) is crucial in multicellular organisms, where it prevents cancer formation, thus, functions as a tumor suppressor.Temporal analysis of products: Temporal Analysis of Products (TAP), (TAP-2), (TAP-3) is an experimental technique for studyingKidney tumour: Kidney tumours (or kidney tumors), also known as renal tumours, are tumours, or growths, on or in the kidney. These growths can be benign or malignant (cancerous).
(1/1469) Merkel cell carcinoma and melanoma: etiological similarities and differences.
Merkel cell carcinoma (MCC) of the skin and cutaneous malignant melanoma can now be compared epidemiologically through the use of population-based data not previously available for MCC. The results may provide new clues to etiology. In this study, United States data covered by the Surveillance, Epidemiology, and End Results (SEER) Program were from nine areas of the United States (approximately 10% of the population). In 1986-1994, 425 cases of MCC were registered. The annual age-adjusted incidence per 100,000 of MCC was 0.23 for whites and 0.01 for blacks; among whites, the ratio of melanoma to MCC was approximately 65 to 1. Only 5% of MCC occurred before age 50, unlike the lifelong risk of nodular and superficial spreading melanoma. Regional incidence rates of both cancers increased similarly with increasing sun exposure as measured by the UVB solar index. The most sun-exposed anatomical site, the face, was the location of 36% of MCC but only 14% of melanoma. Both cancers increased in frequency and aggressiveness after immunosuppression and organ transplantation (36 cases from the Cincinnati Transplant Tumor registry and 12 from published case reports) and after B-cell neoplasia (5 cases in this study; 13 from case series in the literature). The SEER data contained reports of six patients with both types of cancer; 5 melanomas before the diagnosis of MCC and 1 after diagnosis. MCC and melanoma are similarly related to sun exposure and immunosuppression, but they differ markedly from one another in their distributions by age, race, and anatomical site, especially the face. (+info)
(2/1469) The elevated serum alkaline phosphatase--the chase that led to two endocrinopathies and one possible unifying diagnosis.
A 39-year-old Chinese man with hypertension being evaluated for elevated serum alkaline phosphatase (SAP) levels was found to have an incidental right adrenal mass. The radiological features were characteristic of a large adrenal myelolipoma. This mass was resected and the diagnosis confirmed pathologically. His blood pressure normalised after removal of the myelolipoma, suggesting that the frequently observed association between myelolipomas and hypertension may not be entirely coincidental. Persistent elevation of the SAP levels and the discovery of hypercalcaemia after surgery led to further investigations which confirmed primary hyperparathyroidism due to a parathyroid adenoma. The patient's serum biochemistry normalised after removal of the adenoma. The association of adrenal myelolipoma with primary hyperparathyroidism has been reported in the literature only once previously. Although unconfirmed by genetic studies this association may possibly represent an unusual variation of the multiple endocrine neoplasia type 1 syndrome. (+info)
(3/1469) A case of long-term survival with stage IV small cell lung cancer and early-stage central-type squamous cell lung cancer treated by photodynamic therapy.
The present report is on a 67-year-old man with stage IV small cell lung cancer and early-stage centrally located squamous cell cancer of the lung. He was diagnosed as small cell lung cancer with multiple metastasis to the ipsilateral lung and was found to have a central-type early-stage squamous cell cancer by bronchoscope. After obtaining a complete response to the small cell lung cancer with chemotherapy and radiotherapy, photodynamic therapy was applied to the squamous cell carcinoma, resulting in complete disappearance of the tumor. Recurrence of small cell cancer occurred at the ipsilateral lung and this patient died of small cell cancer 8 years after initiation of treatment. Post mortem examination confirmed complete disappearance of squamous cell cancer treated by photodynamic therapy. This is a rare case of long-term survival with stage IV small cell lung cancer and early-stage central-type squamous cell lung cancer successfully treated by photodynamic therapy. (+info)
(4/1469) p53 and p16INK4A mutations during the progression of glomus tumor.
Glomus tumors are significantly rare tumors of carotid body. The great majority of these tumors are benign in character. Here we present two brothers with hereditary glomus jugulare tumor who had consanguineous parents. Radiotherapy was applied approximately 8 and 10 years ago for treatment in both cases. Eight years later, one of these cases came to our notice due to relapse. The mutation pattern of p53, p57KIP2, p16INK4A and p15NK4B genes which have roles in the cell cycle, was analyzed in tumor samples obtained from the two affected cases in the initial phase and from one of these cases at relapse. The DNA sample obtained from the case in initial diagnosis phase revealed no p53, p57KIP2, p16INK4A or p15INK4B mutation. He is still in remission phase. Despite the lack of p53, p57KIP2, p16INK4A and p15INK4B mutation at initial diagnosis the tumor DNA of the other case in relapse revealed p53 codon 243 (ATG-->ATC; met-->ile) and p16 codon 97 (GAC-->AAC; asp-->asn) missense point mutations. No loss of heterozygosity in p53 and p16INK4A was observed by microsatellite analysis of tumoral tissues in these cases. P53 and p16INK4A mutations observed in relapse phase were in conserved regions of both genes. No previous reports have been published with these mutations in glomus tumor during progression. The mutation observed in this case may due to radiotherapy. In spite of this possibility, the missense point mutations in conserved region of p53 and p16INK4A genes may indicate the role of p53 and p16INK4A in tumor progression of glomus tumors. (+info)
(5/1469) Primary endometrioid carcinoma of fallopian tube. Clinicomorphologic study.
Twenty cases of primary Fallopian tube endometrioid carcinoma (PFTEC) are presented in the paper. This accounts for 42.5% of all histologic forms of primary Fallopian tube carcinoma (PFTC) found in our Department. The youngest patient was 38, and the oldest 68 years (mean: 56 years). Seven patients were nulliparas. Only two cases were bilateral. According to FIGO staging, 13 cases were evaluated as stage I, 4 as II, and 3 as stage III. Due to the histologic grading, 8 tumors were classified as well, 7 as moderately, and 5 as poorly differentiated. In the time of preparation of the manuscript, 12 women were still alive, 2 of them with recurrent disease. The follow-up of patients without recurrence ranged from 4 to 120 months (median: 63). Eight patients had died (survival time: from 4 to 65 months; median: 26). Metastases were found in 8 patients, especially to ovaries. In 14/20 cases of PFTEC various forms of tubal wall invasion were observed. Blood or lymphatic vessels involvement was found in 9 patients. Six of them had died and one is alive with the symptoms of disease. Immunohistochemical detection of the mutant form of p53 protein and oncogene product, c-erbB-2, was studied in 17 cases. Nine patients exhibited simultaneous p53 protein accumulation and c-erbB-2 expression. 2/9 of these patients are alive with recurrent tumors and 4/9 died. Endometrioid carcinoma of the Fallopian tube can be characterized by a tendency to superficial invasion of tubal wall and in a half of the cases by invasion of vessels. The majority of these tumors were diagnosed at an early stage tumors. (+info)
(6/1469) Epidemiological analysis of site relationships of synchronous and metachronous multiple primary cancers in the National Cancer Center, Japan, 1962-1996.
BACKGROUND: Multiple primary cancer (MPC) has been recognized as a problem commonly encountered in routine medical practice. A study of MPC is necessary not only to provide insights into the etiology of cancer, but also to provide information for effective medical care by clinical oncologists. METHODS: A cohort of 49,751 cancer patients who were admitted to the National Cancer Center Hospital between 1962 and 1996 was used to study the site relationship of MPC. Logistic and Poisson regression analyses using an internal reference group within the cohort were applied for the calculation of the prevalence odds ratio (POR) for site relationships of synchronous MPC and the incidence rate ratio (IRR) for those of metachronous MPC. RESULTS: Three site combinations with elevated risks for both synchronous and metachronous MPCs, eight with elevated risk for synchronous MPC, five with elevated risk for metachronous MPC and six with decreased risk for synchronous MPC were identified with statistical significance. Among them, the increased risk of metachronous stomach cancer following lymphoma and myeoloma (POR = 1.0 and 1.1, P > 0.05; IRR = 2.5, P < 0.05) and the inverse site-correlation of synchronous MPC between [trachea, bronchus and lung] and other sites of the upper aerodigestive tract [lip, oral cavity and pharynx] (POR = 0.5 and 0.3, P < 0.05) and esophagus (POR = 0.7 and 0.3, P < 0.05) have not been reported previously. CONCLUSIONS: Our results suggest that interventions for lymphoma and myeloma might affect the development of subsequent stomach cancer and additional etiological factors other than tobacco smoking are associated with the development of cancer in the upper aerodigestive tract. (+info)
(7/1469) Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.
When multiple synchronous lung tumours are identified, discrimination of multicentric lung cancers from intrapulmonary metastases by clinical findings is often difficult. We used genetic alterations in p53 gene as a discrimination marker of double primary lung cancers from single lung cancer with intrapulmonary metastasis. Twenty of 861 patients with primary lung cancer who underwent lung resection were selected as subjects because they showed synchronous double solid tumours of the same histological type in the unilateral lung without distant metastases. In addition, they had been diagnosed as lung carcinoma with intrapulmonary metastasis by clinical and histological findings. DNAs were extracted from paraffin-embedded tissue of paired tumours from these 20 patients. Exons 5-9 of the p53 gene were examined for genetic alterations in the tumours by polymerase chain reaction, single-strand conformation polymorphism analysis and subsequent DNA sequencing analysis. Three different patterns in the distribution of p53 mutations in double lung tumours were observed: [A] mutation in only one of the tumours (four cases), [B] different mutations in the tumours (two cases), and [C] same mutation in both tumours (one case). The cases of [A] or [B] patterns could be classified as double primary lung cancers, while the case of the [C] pattern was suggested to be lung cancer with intrapulmonary metastasis. These results suggested that the multicentric cancers were more frequent than the intrapulmonary metastatic cancers in double cancer cases. (+info)
(8/1469) Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome caused by germline defects of mismatch repair (MMR) genes. Endometrial cancer is the most common extracolonic neoplasm in HNPCC and is the primary clinical manifestation of the syndrome in some families. The cumulative incidence of endometrial cancer among HNPCC mutation carriers is high, estimated to be from 22 to 43%. We hypothesized that women with double primary cancers of the colorectum and endometrium are likely to be members of HNPCC families. In order to determine how frequently HNPCC manifests in the context of double primary cancers, we examined alterations of two MMR genes, hMSH2 and hMLH1, in 40 unrelated women affected with double primary cancers. These cases were identified using hospital-based and population-based cancer registries in Ontario, Canada. MMR gene mutations were screened by single-strand conformation polymorphism analysis and confirmed by direct sequencing. Eighteen percent (seven of 40) were found to harbor mutations of one of the two MMR genes. Analysis of colorectal and/or endometrial tumors of mutation-negative probands found microsatellite instability in seven of 20 cases. Six of seven mutation-positive probands had strong family histories suggestive of HNPCC. First degree relatives of mutation-positive probands had a very high relative risk (RR) of colorectal cancer (RR = 8.1, CI 3. 5-15.9) and endometrial cancer (RR = 23.8, CI 6.4-61.0). The relative risk of mutation-negative cases was 2.8 (CI 1.7-4.5) for colorectal cancer and 5.4 (CI 2.0-11.7) for endometrial cancer. We recommend that all double primary patients with cancers at these sites should have a genetic evaluation, including molecular analysis for HNPCC where appropriate. (+info)
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