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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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The most common and obvious sign of retinoblastoma is an abnormal appearance of the retina as viewed through the pupil, the medical term for which is leukocoria, also known as amaurotic cat's eye reflex. Other signs and symptoms include deterioration of vision, a red and irritated eye with glaucoma, and faltering growth or delayed development. Some children with retinoblastoma can develop a squint, commonly referred to as "cross-eyed" or "wall-eyed" (strabismus). Retinoblastoma presents with advanced disease in developing countries and eye enlargement is a common finding.
Depending on the position of the tumors, they may be visible during a simple eye exam using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthetic (). A white eye reflection is not always a positive indication of retinoblastoma and can be caused by light being reflected badly or by other conditions such as Coats' disease.
The presence of the photographic fault red eye in only one eye and not in the other may be a sign of retinoblastoma. A clearer sign is "white eye" or "cat's eye" (leukocoria).
Symptoms of cancer in dogs may include:
- Lumps (which are not always malignant, but should always be examined by a vet)
- Swelling
- Persistent sores
- Abnormal discharge from any part of the body
- Bad breath
- Listlessness/lethargy
- Rapid, often unexplained weight loss
- Sudden lameness
- Offensive odor
- Black, tarry stools (a symptom of ulcers, which can be caused by mast cell tumors)
- Decreased or loss of appetite
- Difficulty breathing, urinating or defecating
There are two forms of the disease, a heritable form and non-heritable form (all cancers are considered genetic in that mutations of the genome are required for their development, but this does not imply that they are heritable, or transmitted to offspring). Approximately 55% of children with retinoblastoma have the non-heritable form. If there is no history of the disease within the family, the disease is labeled "sporadic", but this does not necessarily indicate that it is the non-heritable form. Bilateral retinoblastomas are commonly heritable, while unilateral retinoblastomas are commonly non-heritable.
In about two-thirds of cases, only one eye is affected (unilateral retinoblastoma); in the other third, tumors develop in both eyes (bilateral retinoblastoma). The number and size of tumours on each eye may vary. In certain cases, the pineal gland or the suprasellar or parasellar region (or in very rare cases other midline intracranial locations) is also affected (trilateral retinoblastoma). The position, size and quantity of tumours are considered when choosing the type of treatment for the disease.
In a case series of 34 patients, Davis and colleagues reported the following signs and symptoms:
- macroscopically visible (gross) hematuria (60%)
- abdominal or back/flank pain (50%)
- significant weight loss (25%)
Other researchers have reported a palpable renal mass or enlarged lymph nodes.
Primary squamous cell thyroid carcinoma shows an aggressive biological phenotype resulting in poor prognosis for patients.
Ninety percent of cases of head and neck cancer (cancer of the mouth, nasal cavity, nasopharynx, throat and associated structures) are due to squamous cell carcinoma.
Individuals with a basal-cell carcinoma typically present with a shiny, pearly skin nodule. However, superficial basal-cell cancer can present as a red patch similar to eczema. Infiltrative or morpheaform basal-cell cancers can present as a skin thickening or scar tissue – making diagnosis difficult without using tactile sensation and a skin biopsy. It is often difficult to visually distinguish basal-cell cancer from acne scar, actinic elastosis, and recent cryodestruction inflammation.
It occurs most commonly in the sixth decade.
- External signs include dilated episcleral blood vessels ("sentinel vessels"). Extraocular erosion may produce a dark mass beneath the conjunctiva.
- Pressure on the lens by the enlarging tumor can cause astigmatism, sublaxtion of the lens and formation of a localised lens opacity.
- The tumor can erode forward through the iris root and mimic an iris melanoma.
- Retinal detachment can be rarely caused by posterior extension of the tumor.
- Anterior uveitis is an uncommon presentation and occurs due to tumor necrosis.
- Cirumferentially growing tumors carry a bad prognosis as they are diagnosed late.
- At times the tumor is detected as an incidental finding during routine examination.
The tumour is usually diagnosed by clinical examination with a slit-lamp utilising a triple mirror contact lens. Ultrasonography and fine needle aspiration biopsy (FNAB) are also sometimes helpful in confirming the diagnosis.
Renal medullary carcinoma has been termed "the seventh sickle cell nephropathy" because it is found almost exclusively in individuals with sickle cell trait or occasionally in those with sickle cell disease.
Ciliary Body Melanoma is a type of cancer arising from the coloured part (uvea) of the eye.
About 12% of uveal melanoma arise from the ciliary body.
Basal cell carcinoma can be divided into three groups, based on the growth patterns.
1. Superficial basal cell carcinoma, formerly referred to in-situ basal cell carcinoma, is characterized by a superficial proliferation of neoplastic basal cells. This tumor is generally responsive to topic chemotherapy, such as Aldara (Imiquimod), or Fluorouracil.
2. Infiltrative basal cell carcinoma, that also encompasses morpheaform and micronodular basal cell cancer, is more difficult to treat with conservative methods, given its tendency to penetrate into deeper layers of the skin.
3. Nodular basal cell carcinoma includes most of the remaining categories of basal-cell cancer. It is not unusual to encounter heterogeneous morphologic features within the same tumor.
Around 95% of penile cancers are squamous cell carcinomas. They are classified into the following types:
- basaloid (4%)
- warty (6%)
- mixed warty-basaloid (17%)
- verrucous (8%)
- papillary (7%)
- other SCC mixed (7%)
- sarcomatoid carcinomas (1%)
- not otherwise specified (49%)
Other types of carcinomas are rare and may include small cell, Merkel cell, clear cell, sebaceous cell or basal cell tumors. Non-epithelial malignancies such as melanomas and sarcomas are even more rare.
In addition to renal cell carcinoma and renal pelvis carcinoma, other, less common types of kidney cancer include:
- Squamous cell carcinoma
- Juxtaglomerular cell tumor (reninoma)
- Angiomyolipoma
- Bellini duct carcinoma
- Clear-cell sarcoma of the kidney
- Mesoblastic nephroma
- Wilms' tumor, usually is reported in children under the age of 5.
- Mixed epithelial stromal tumor
Rarely, some other types of cancer and potentially cancerous tumors that more usually originate elsewhere can originate in the kidneys. These include:
- Clear cell adenocarcinoma
- Transitional cell carcinoma
- Inverted papilloma
- Renal lymphoma
- Teratoma
- Carcinosarcoma
- Carcinoid tumor of the renal pelvis
Cancer in the kidney may also be secondary, the result of metastasis from a primary cancer elsewhere in the body.
Like many malignancies, penile cancer can spread to other parts of the body. It is usually a primary malignancy, the initial place from which a cancer spreads in the body. Much less often it is a secondary malignancy, one in which the cancer has spread to the penis from elsewhere. The staging of penile cancer is determined by the extent of tumor invasion, nodal metastasis, and distant metastasis.
The T portion of the AJCC TNM staging guidelines are for the primary tumor as follows:
- TX: Primary tumor cannot be assessed.
- T0: No evidence of primary tumor.
- Tis: Carcinoma "in situ".
- Ta: Noninvasive verrucous carcinoma.
- T1a: Tumor invades subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3–4).
- T1b: Tumor invades subepithelial connective tissue with lymph vascular invasion or is poorly differentiated.
- T2: Tumor invades the corpus spongiosum or cavernosum.
- T3: Tumor invades the urethra or prostate.
- T4: Tumor invades other adjacent structures.
Anatomic Stage or Prognostic Groups of penile cancer are as follows:
- Stage 0—Carcinoma "in situ".
- Stage I—The cancer is moderately or well differentiated and only affects the subepithelial connective tissue.
- Stage II—The cancer is poorly differentiated, affects lymphatics, or invades the corpora or urethra.
- Stage IIIa—There is deep invasion into the penis and metastasis in one lymph node.
- Stage IIIb—There is deep invasion into the penis and metastasis into multiple inguinal lymph nodes.
- Stage IV—The cancer has invaded into structures adjacent to the penis, metastasized to pelvic nodes, or distant metastasis is present.
Cancer is the leading cause of death in dogs. It is estimated that 1 in 3 domestic dogs will develop cancer, which is the same incidence of cancer among men. Dogs can develop a variety of cancers and most are very similar to those found in humans. Dogs can develop carcinomas of epithelial cells and organs, sarcomas of connective tissues and bones, and lymphomas or leukemias of the circulatory system. Selective breeding of dogs has led certain pure-bred breeds to be at high-risk for specific kinds of cancer.
Veterinary oncology is the medical study of cancer in animals, and can be diagnosed and treated by specialized veterinarians called veterinary oncologists.
Basal-cell skin cancer (BCC) usually presents as a raised, smooth, pearly bump on the sun-exposed skin of the head, neck or shoulders. Sometimes small blood vessels (called telangiectasia) can be seen within the tumor. Crusting and bleeding in the center of the tumor frequently develops. It is often mistaken for a sore that does not heal. This form of skin cancer is the least deadly and with proper treatment can be completely eliminated, often without scarring.
The symptoms produced by metastatic breast cancer vary by the location of the metastases. For instance:
- Metastatic disease to the bone causes severe, progressive pain, and, less commonly, pathological fracture, erythema over the affected bone, and swelling.
- Metastatic breast cancer to the brain causes the following symptoms: persistent, progressively worsening headache, visual changes, seizures, nausea or vomiting, vertigo, behavioral and personality changes, and increased intracranial pressure.
- Metastatic disease to the liver causes jaundice, elevated liver enzymes, abdominal pain, loss of appetite, nausea, and vomiting
- Metastatic breast cancer to the lung or pleura causes chronic cough, dyspnea, abnormal chest X-ray, and chest pain.
- Other nonspecific systemic symptoms of metastatic breast cancer include fatigue, malaise, weight loss, and poor appetite.
A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancers and may also cause the early onset of these cancers. Cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. Other genes that may be affected are DNA repair genes, oncogenes and genes involved in the production of blood vessels (angiogenesis). Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome).
The most common signs and symptoms of kidney cancer are a mass in the abdomen and/or blood in the urine (or hematuria). Other symptoms may include tiredness, loss of appetite, weight loss, a high temperature and heavy sweating, and persistent pain in the abdomen. However, many of these symptoms can be caused by other conditions, and there may also be no signs or symptoms in a person with kidney cancer, especially in the early stages of the disease.
Squamous-cell skin cancer (SCC) is commonly a red, scaling, thickened patch on sun-exposed skin. Some are firm hard nodules and dome shaped like keratoacanthomas. Ulceration and bleeding may occur. When SCC is not treated, it may develop into a large mass. Squamous-cell is the second most common skin cancer. It is dangerous, but not nearly as dangerous as a melanoma.
Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. The process is characterized by changes at the cellular, genetic, and epigenetic levels and abnormal cell division. Cell division is a physiological process that occurs in almost all tissues and under a variety of circumstances. Normally the balance between proliferation and programmed cell death, in the form of apoptosis, is maintained to ensure the integrity of tissues and organs. According to the prevailing accepted theory of carcinogenesis, the somatic mutation theory, mutations in DNA and epimutations that lead to cancer disrupt these orderly processes by disrupting the programming regulating the processes, upsetting the normal balance between proliferation and cell death. This results in uncontrolled cell division and the evolution of those cells by natural selection in the body. Only certain mutations lead to cancer whereas the majority of mutations do not.
Variants of inherited genes may predispose individuals to cancer. In addition, environmental factors such as carcinogens and radiation cause mutations that may contribute to the development of cancer. Finally random mistakes in normal DNA replication may result in cancer causing mutations. A series of several mutations to certain classes of genes is usually required before a normal cell will transform into a cancer cell. On average, for example, 15 "driver mutations" and 60 "passenger" mutations are found in colon cancers. Mutations in genes that regulate cell division, apoptosis (cell death), and DNA repair may result in uncontrolled cell proliferation and cancer.
Cancer is fundamentally a disease of regulation of tissue growth. In order for a normal cell to transform into a cancer cell, genes that regulate cell growth and differentiation must be altered. Genetic and epigenetic changes can occur at many levels, from gain or loss of entire chromosomes, to a mutation affecting a single DNA nucleotide, or to silencing or activating a microRNA that controls expression of 100 to 500 genes. There are two broad categories of genes that are affected by these changes. Oncogenes may be normal genes that are expressed at inappropriately high levels, or altered genes that have novel properties. In either case, expression of these genes promotes the malignant phenotype of cancer cells. Tumor suppressor genes are genes that inhibit cell division, survival, or other properties of cancer cells. Tumor suppressor genes are often disabled by cancer-promoting genetic changes. Finally Oncovirinae, viruses that contain an oncogene, are categorized as oncogenic because they trigger the growth of tumorous tissues in the host. This process is also referred to as viral transformation.
Hereditary cancer syndromes underlie 5 to 10% of all cancers. Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and commercialization of diagnostic genetics methodology is improving clinical access. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome (HBOC) and hereditary non-polyposis colon cancer (HNPCC, Lynch syndrome).
Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. Genetic testing should be considered with adrenocortical carcinoma; carcinoid tumors; diffuse gastric cancer; fallopian tube/primary peritoneal cancer; leiomyosarcoma; medullary thyroid cancer; paraganglioma/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or oncocytoma histology; sebaceous carcinoma; and sex cord tumors with annular tubules. Primary care physicians can identify people who are at risk of heridatary cancer syndrome.
VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene.
Metastatic breast cancer, also referred to as metastases, advanced breast cancer, secondary tumours, secondaries or stage 4 breast cancer, is a stage of breast cancer where the disease has spread to distant sites beyond the axillary lymph nodes. There is no cure for metastatic breast cancer. There is no stage after IV.
It usually occurs several years after the primary breast cancer, although it is sometimes diagnosed at the same time as the primary breast cancer or, rarely, before the primary breast cancer has been diagnosed.
Metastatic breast cancer cells frequently differ from the preceding primary breast cancer in properties such as receptor status. The cells have often developed resistance to several lines of previous treatment and have acquired special properties that permit them to metastasize to distant sites. Metastatic breast cancer can be treated, sometimes for many years, but it cannot be cured. Distant metastases are the cause of about 90% of deaths due to breast cancer.
Breast cancer can metastasize anywhere in body but primarily metastasizes to the bone, lungs, regional lymph nodes, liver and brain, with the most common site being the bone. Treatment of metastatic breast cancer depends on location of the metastatic tumours and includes surgery, radiation, chemotherapy, biological, and hormonal therapy.
Typical environmental barriers in a metastatic event include physical (a basement membrane), chemical (reactive oxygen species or ROS, hypoxia and low pH) and biological (immune surveillance, inhibitory cytokines and regulatory extra-cellular matrix (ECM) peptides) components. Organ-specific anatomic considerations also influence metastasis; these include blood-flow patterns from the primary tumor and the homing ability of cancer cells to certain tissues. The targeting by cancer cells of specific organs is probably regulated by chemo-attractant factors and adhesion molecules produced by the target organ, along with cell-surface receptors expressed by the tumor cells.
There is a diverse classification scheme for the various genomic changes that may contribute to the generation of cancer cells. Many of these changes are mutations, or changes in the nucleotide sequence of genomic DNA. There are also many epigenetic changes that alter whether genes are expressed or not expressed. Aneuploidy, the presence of an abnormal number of chromosomes, is one genomic change that is not a mutation, and may involve either gain or loss of one or more chromosomes through errors in mitosis. Large-scale mutations involve the deletion or gain of a portion of a chromosome. Genomic amplification occurs when a cell gains many copies (often 20 or more) of a small chromosomal region, usually containing one or more oncogenes and adjacent genetic material. Translocation occurs when two separate chromosomal regions become abnormally fused, often at a characteristic location. A well-known example of this is the Philadelphia chromosome, or translocation of chromosomes 9 and 22, which occurs in chronic myelogenous leukemia, and results in production of the BCR-abl fusion protein, an oncogenic tyrosine kinase. Small-scale mutations include point mutations, deletions, and insertions, which may occur in the promoter of a gene and affect its expression, or may occur in the gene's coding sequence and alter the function or stability of its protein product. Disruption of a single gene may also result from integration of genomic material from a DNA virus or retrovirus, and such an event may also result in the expression of viral oncogenes in the affected cell and its descendants.