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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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Brown tumours consist of fibrous tissue, woven bone and supporting vasculature, but no matrix. The osteoclasts consume the trabecular bone that osteoblasts lay down and this front of reparative bone deposition followed by additional resorption can expand beyond the usual shape of the bone, involving the periosteum thus causing bone pain. The characteristic brown coloration results from hemosiderin deposition into the osteolytic cysts. Hemosiderin deposition is not a distinctive feature of brown tumors; it may also be seen in giant cell tumors of the bone.
Brown tumors may be rarely associated with ectopic parathyroid adenomas or end stage renal osteodystrophy.
Ameloblastomas are often associated with the presence of unerupted teeth. Symptoms include painless swelling, facial deformity if severe enough, pain if the swelling impinges on other structures, loose teeth, ulcers, and periodontal (gum) disease. Lesions will occur in the mandible and maxilla, although 75% occur in the ascending ramus area and will result in extensive and grotesque deformities of the mandible and maxilla. In the maxilla it can extend into the maxillary sinus and floor of the nose. The lesion has a tendency to expand the bony cortices because slow growth rate of the lesion allows time for periosteum to develop thin shell of bone ahead of the expanding lesion. This shell of bone cracks when palpated and this phenomenon is referred to as "Egg Shell Cracking" or crepitus, an important diagnostic feature. Ameloblastoma is tentatively diagnosed through radiographic examination and must be confirmed by histological examination (e.g., biopsy).
There are three main clinical subtypes of ameloblastoma: unicystic, multicystic, peripheral. The peripheral subtype composes 2% of all ameloblastomas. Of all ameloblastomas in younger patients, unicystic ameloblastomas represent 6% of the cases. A fourth subtype, malignant, has been considered by some oncologic specialists, however, this form of the tumor is rare and may be simply a manifestation of one of the three main subtypes.
Ameloblastoma also occurs in long bones, and another variant is craniopharyngioma (Rathke's pouch tumour, pituitary ameloblastoma).
The brown tumor is a bone lesion that arises in settings of excess osteoclast activity, such as hyperparathyroidism. It is not a true neoplasm, as the term "tumor" suggests; however, it may mimic a true neoplasm. It most commonly affects the maxilla and mandible, though any bone may be affected. Brown tumours are radiolucent on x-ray.
Many patients first complain of pain that may be worse at night, may be intermittent and of varying intensity and may have been occurring for some time. Teenagers who are active in sports often complain of pain in the lower femur, or immediately below the knee. If the tumor is large, it can present as overt localised swelling. Sometimes a sudden fracture is the first symptom, because affected bone is not as strong as normal bone and may fracture abnormally with minor trauma. In cases of more deep-seated tumors that are not as close to the skin, such as those originating in the pelvis, localised swelling may not be apparent.
The radiographic appearance of osteopoikilosis on an x-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger.
The distribution is variable, though it does not tend to affect the ribs, spine, or skull.
Fibrous dysplasia is a mosaic disease that can involve any part or combination of the craniofacial, axillary, and/or appendicular skeleton. The type and severity of the complications therefore depend on the location and extent of the affected skeleton. The clinical spectrum is very broad, ranging from an isolated, asymptomatic monostotic lesion discovered incidentally, to severe disabling disease involving practically the entire skeleton and leading to loss of vision, hearing, and/or mobility.
Individual bone lesions typically manifest during the first few years of life and expand during childhood. The vast majority of clinically significant bone lesions are detectable by age 10 years, with few new and almost no clinically significant bone lesions appearing after age 15 years. Total body scintigraphy is useful to identify and determine the extent of bone lesions, and should be performed in all patients with suspected fibrous dysplasia.
Children with fibrous dysplasia in the appendicular skeleton typically present with limp, pain, and/or pathologic fractures. Frequent fractures and progressive deformity may lead to difficulties with ambulation and impaired mobility. In the craniofacial skeleton, fibrous dysplasia may present as a painless “lump” or facial asymmetry. Expansion of craniofacial lesions may lead to progressive facial deformity. In rare cases patients may develop vision and/or hearing loss due to compromise of the optic nerves and/or auditory canals, which is more common in patients with McCune-Albright syndrome associated growth hormone excess. Fibrous dysplasia commonly involves the spine, and may lead to scoliosis, which in rare instances may be severe. Untreated, progressive scoliosis is one of the few features of fibrous dysplasia that can lead to early fatality.
Bone pain is a common complication of fibrous dysplasia. It may present at any age, but most commonly develops during adolescence and progresses into adulthood.
Bone marrow stromal cells in fibrous dysplasia produce excess amounts of the phosphate-regulating hormone fibroblast growth factor-23 (FGF23), leading to loss of phosphate in the urine. Patients with hypophosphatemia may develop rickets/osteomalacia, increased fractures, and bone pain.
Formation on the lower jaw occurs much less commonly than on the upper jaw. They are painless and have no risk of turning into cancer, although they may slowly expand over years, or sometimes more rapidly.
An osteosarcoma (OS) or osteogenic sarcoma (OGS) is a cancerous tumor in a bone. Specifically, it is an aggressive malignant neoplasm that arises from primitive transformed cells of mesenchymal origin (and thus a sarcoma) and that exhibits osteoblastic differentiation and produces malignant osteoid.
Osteosarcoma is the most common histological form of primary bone cancer. It is most prevalent in teenagers and young adults.
Buccal exostoses are considered different entities to osteomas (e.g. seen in Gardner syndrome), even though the two lesions are histopathologically identical.
Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.
Neoplasm is an abnormal growth of tissue which, if it forms a mass, is commonly referred to as a tumor. This abnormal growth (neoplasia) usually but not always forms a mass.
ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of uncertain or unknown behavior. Malignant neoplasms are also simply known as cancers and are the focus of oncology.
Prior to the abnormal growth of tissue, as neoplasia, cells often undergo an abnormal pattern of growth, such as metaplasia or dysplasia. However, metaplasia or dysplasia does not always progress to neoplasia. The word is from Ancient Greek νέος- "neo" "new" and πλάσμα "plasma" "formation, creation".
A connective tissue neoplasm or connective tissue tumor is a neoplasm arising from the tissues of the connective tissue. (Not all tumors "in" the connective tissue are "of" the connective tissue.)
A neoplasm can be benign, potentially malignant, or malignant (cancer).
- Benign tumors include uterine fibroids and melanocytic nevi (skin moles). They are circumscribed and localized and do not transform into cancer.
- Potentially-malignant neoplasms include carcinoma in situ. They are localised, do not invade and destroy but in time, may transform into a cancer.
- Malignant neoplasms are commonly called cancer. They invade and destroy the surrounding tissue, may form metastases and, if untreated or unresponsive to treatment, will prove fatal.
- Secondary neoplasm refers to any of a class of cancerous tumor that is either a metastatic offshoot of a primary tumor, or an apparently unrelated tumor that increases in frequency following certain cancer treatments such as chemotherapy or radiotherapy.
- Rarely there can be a metastatic neoplasm with no known site of the primary cancer and this is classed as a cancer of unknown primary origin
Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, and pain. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions to severe disabling disease. Disease can affect one bone (monostotic) or multiple (polyostotic), and may occur in isolation or in combination with cafe-au-lait skin macules and hyperfunctioning endocrinopathies, termed McCune-Albright syndrome. More rarely, fibrous dysplasia may be associated with intramuscular myxomas, termed Mazabraud's syndrome. Fibrous dysplasia is very rare, and there is no known cure. Fibrous dysplasia is not a form of cancer.
Chondrosarcoma is a cancer composed of cells derived from transformed cells that produce cartilage. Chondrosarcoma is a member of a category of tumors of bone and soft tissue known as sarcomas. About 30% of skeletal system cancers are chondrosarcomas. It is resistant to chemotherapy and radiotherapy. Unlike other primary bone cancers that mainly affect children and adolescents, chondrosarcoma can present at any age. It more often affects the axial skeleton than the appendicular skeleton.
An adipose tissue neoplasm is a neoplasm derived from adipose tissue.
An example is lipoma.
Children affected by pilocytic astrocytoma can present with different symptoms that might include failure to thrive (lack of appropriate weight gain/ weight loss), headache, nausea, vomiting, irritability, torticollis (tilt neck or wry neck) difficulty to coordinate movements and visual complaints (including nystagmus). The complaints may vary depending on the location and size of the neoplasm. The most common symptoms are associated with increased intracranial pressure due to the size of the neoplasm.
Physicians grade chondrosarcoma using several criteria, but particularly on how abnormal the cancerous cells appear under the microscope, and the growth rate of the tumors themselves, both of which are directly linked to the propensity of the cancer to invade locally, and to spread widely to distant organs and sites in the body (called metastasis).
Grade 1 chondrosarcoma grows relatively slowly, has cells whose histological appearance is quite similar to cells of normal cartilage, and have much less aggressive invasive and metastatic properties. Grades 2 and 3 are increasingly faster-growing cancers, with more varied and abnormal-looking cells, and are much more likely to infiltrate surrounding tissues, lymph nodes, and organs. Some, but not all, authorities and medical facilities assign a "Grade 4" to the most anaplastic, undifferentiated cartilage-derived tumors.
The most common sites for chondrosarcoma to grow are the pelvis and shoulder, along with the superior metaphyseal and diaphyseal regions of the arms and legs. However, chondrosarcoma may occur in any bone, and are sometimes found in the skull, particularly at its base.
ICD-O codes provide a more precise classification of chondrosarcoma. These "subtypes" are derived from, and reflect, both (a) the topographical location of the tumor, (b) the histological characteristics of the cancerous cartilage cells, and (c) the makeup of the surrounding matrix material associated with the tumor:
Segmental odontomaxillary dysplasia is a painless, unilateral enlargement of the upper jaw. The cause is unknown, and the disease affects the jaws, teeth, and adjacent soft tissue. The premolars may be congenitally missing, and the primary teeth (baby teeth) may be smaller than usual. It is a relatively recent discovery.
The definitive symptom of ONJ is the exposure of mandibular or maxillary bone through lesions in the gingiva that do not heal. Pain, inflammation of the surrounding soft tissue, secondary infection or drainage may or may not be present. The development of lesions is most frequent after invasive dental procedures, such as extractions, and is also known to occur spontaneously. There may be no symptoms for weeks or months, until lesions with exposed bone appear. Lesions are more common on the mandible than the maxilla.
- Pain and neuropathy
- Erythema and suppuration
- Bad breath
An muscle tissue neoplasm is a neoplasm derived from muscle.
An example is myoma.
Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton.
Pilocytic astrocytoma or juvenile pilocytic astrocytoma or cystic cerebellar astrocytoma (and its variant juvenile pilomyxoid astrocytoma) is a brain tumor that occurs more often in children and young adults (in the first 20 years of life). They usually arise in the cerebellum, near the brainstem, in the hypothalamic region, or the optic chiasm, but they may occur in any area where astrocytes are present, including the cerebral hemispheres and the spinal cord. These tumors are usually slow growing and benign. The neoplasms are associated with the formation of a single (or multiple) cyst(s), and can become very large.
Pilocytic astrocytomas are often cystic, and, if solid, tend to be well-circumscribed. It is characteristically easily seen on Computed tomography (CT scans) and Magnetic Resonance Imaging (MRI).
Juvenile pilocytic astrocytoma is associated with neurofibromatosis type 1 (NF1), and optic gliomas are among the most frequently encountered tumors in patients with this disorder. The majority of pilocytic astrocytomas have a unique KIAA1549-BRAF fusion gene.
These terms are related since they represent the steps of the progression toward cancer:
- Dysplasia is the earliest form of precancerous lesion recognizable in a biopsy. Dysplasia can be low-grade or high-grade. High-grade dysplasia may also be referred to as carcinoma "in situ".
- Invasive carcinoma, usually simply called cancer, has the potential to invade and spread to surrounding tissues and structures, and may eventually be lethal.