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Most individuals come to clinical attention during the 5th decade, although the age range is broad (20 to 80 years). There is an equal gender distribution.
This is a very rare neoplasm accounting for approximately 0.0003% of all tumors and about 2.5% of all external ear neoplasms. There is a wide age range at initial presentation, although the mean age is about 50 years of age. Females are affected slightly more often (1.5:1).
The incidence of squamous cell carcinoma continues to rise around the world. A recent study estimated that there are between 180,000 and 400,000 cases of SCC in the United States in 2013. Risk factors for squamous cell carcinoma varies with age, gender, race, geography, and genetics. The incidence of SCC increases with age and the peak incidence is usually around 60 years old. Males are affected with SCC at a ratio of 2:1 in comparison to females. Caucasians are more likely to be affected, especially those with fair Celtic skin and chronically exposed to UV radiation. Squamous cell carcinoma of the skin is the most common among all sites of the body. Solid organ transplant recipients (heart, lung, liver, pancreas, among others) are also at a heightened risk of developing aggressive, high-risk SCC. There are also a few rare congenital diseases predisposed to cutaneous malignancy. In certain geographic locations, exposure to arsenic in well water or from industrial sources may significantly increase the risk of SCC.
The long-term outcome of squamous cell carcinomas is dependent upon several factors: the sub-type of the carcinoma, available treatments, location(s) and severity, and various patient health-related variables (accompanying diseases, age, etc.). Generally, the long-term outcome is positive, as less than 4% of Squamous cell carcinoma cases are at risk of metastasis. Some particular forms of squamous cell carcinomas have a higher mortality rate. One study found squamous cell carcinoma of the penis had a much greater rate of mortality than some other forms of squamous cell carcinoma, that is, about 23%, although this relatively high mortality rate may be associated with possibly latent diagnosis of the disease due to patients avoiding genital exams until the symptoms are debilitating, or refusal to submit to a possibly scarring operation upon the genitalia. Squamous cell carcinoma occurring in the organ transplant population is also associated with a higher risk of mortality.
Wide, radical, complete surgical excision is the treatment of choice, with free surgical margins to achieve the best outcome and lowest chance of recurrence. Radiation is only used for palliation. In general, there is a good prognosis, although approximately 50% of patients die from disease within 3–10 years of presentation.
Nasopharynx cancer as of 2010 resulted in 65,000 deaths globally up from 45,000 in 1990.
NPC is uncommon in the United States and most other nations, representing less than 1 case per 100,000 in most populations. but is extremely common in southern regions of China, particularly in Guangdong, accounting for 18% of all cancers in China. It is sometimes referred to as "Cantonese cancer" because it occurs in about 25 cases per 100,000 people in this region, 25 times higher than the rest of the world. It is also quite common in Taiwan. This could be due to the South East Asian diet which typically includes consumption of salted vegetables, fish and meat. While NPC is seen primarily in middle-aged persons in Asia, a high proportion of African cases appear in children. The cause of increased risk for NPC in these endemic regions is not clear. In low-risk populations, such as in the United States, a bimodal peak is observed. The first peak occurs in late adolescence/early adulthood (ages 15–24 years), followed by a second peak later in life (ages 65–79 years).
Nasopharyngeal carcinoma (NPC) is caused by a combination of factors: viral, environmental influences, and heredity. The viral influence is associated with infection with Epstein-Barr virus (EBV). The Epstein-Barr virus is one of the most common viruses. 95 percent of all people in the U.S. are exposed to this virus by the time they are 30–40 years old. The World Health Organization does not have set preventative measures for this virus because it is so easily spread and is worldwide. Very rarely does Epstein-Barr virus lead to cancer, which suggests a variety of influencing factors. Other likely causes include genetic susceptibility, consumption of food (in particular salted fish) containing carcinogenic volatile nitrosamines. Various mutations that activate NF-κB signalling have been reported in almost half of NPC cases investigated.
The association between Epstein-Barr virus and nasopharyngeal carcinoma is unequivocal in World Health Organization (WHO) types II and III tumors but less well-established for WHO type I (WHO-I) NPC, where preliminary evaluation has suggested that human papillomavirus HPV may be associated. EBV DNA was detectable in the blood plasma samples of 96% of patients with non-keratinizing NPC, compared with only 7% in controls. The detection of nuclear antigen associated with Epstein-Barr virus (EBNA) and viral DNA in NPC type 2 and 3, has revealed that EBV can infect epithelial cells and is associated with their transformation. The cause of NPC (particularly the endemic form) seems to follow a multi-step process, in which EBV, ethnic background, and environmental carcinogens all seem to play an important role. More importantly, EBV DNA levels appear to correlate with treatment response and may predict disease recurrence, suggesting that they may be an independent indicator of prognosis. The mechanism by which EBV alters nasopharyngeal cells is being elucidated to provide a rational therapeutic target.
The tumor must be removed with as complete a surgical excision as possible. In nearly all cases, the ossicular chain must be included if recurrences are to be avoided. Due to the anatomic site of involvement, facial nerve paralysis and/or paresthesias may be seen or develop; this is probably due to mass effect rather than nerve invasion. In a few cases, reconstructive surgery may be required. Since this is a benign tumor, no radiation is required. Patients experience an excellent long term outcome, although recurrences can be seen (up to 15%), especially if the ossicular chain is not removed. Although controversial, metastases are not seen in this tumor. There are reports of disease in the neck lymph nodes, but these patients have also had other diseases or multiple surgeries, such that it may represent iatrogenic disease.
While there is a wide age range at clinical presentation (12–85 years), most patients come to clinical attention at 55 years (mean). There is no gender difference.
The cause of acoustic neuromas is usually unknown; however there is a growing body of evidence that sporadic defects in tumor suppressor genes may give rise to these tumors in some individuals. In particular, loss or mutation of a tumor suppressor gene on the long arm of chromosome 22 is strongly associated with vestibular schwannomas. Other studies have hinted at exposure to loud noise on a consistent basis. One study has shown a relationship between acoustic neuromas and prior exposure to head and neck radiation, and a concomitant history of having had a parathyroid adenoma (tumor found in proximity to the thyroid gland controlling calcium metabolism). There are even controversies on hand held cellular phones. Whether or not the radiofrequency radiation has anything to do with acoustic neuroma formation, remains to be seen. To date, no environmental factor (such as cell phones or diet) has been scientifically proven to cause these tumors. The Acoustic Neuroma Association (ANA) does recommend that frequent cellular phone users use a hands free device to enable separation of the device from the head.
Although there is an inheritable condition called Neurofibromatosis Type 2 (NF2) which can lead to acoustic neuroma formation in some people, most acoustic neuromas occur spontaneously without any evidence of family history (95%). NF2 occurs with a frequency of 1 in 30,000 to 1 in 50,000 births. The hallmark of this disorder is bilateral acoustic neuromas (an acoustic neuroma on both sides) usually developing in late childhood or early adulthood, frequently associated with other brain and spinal chord tumors.
Birt-Hogg-Dubé Syndrome patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.
Taste disturbance and mouth dryness are frequent for a few weeks following surgery. In a few patients this disturbance is longer or permanent.
Patients treated with complete surgical excision can expect an excellent long term outcome without any problems. Recurrences may be seen in tumors which are incompletely excised.
This is a very rare tumor, since only about 1 in 35,000 to 40,000 people have VHL, of whom about 10% have endolymphatic sac tumors. Patients usually present in the 4th to 5th decades without an gender predilection. The tumor involves the endolymphatic sac, a portion of the intraosseous inner ear of the posterior petrous bone.
Verruciform xanthoma is uncommon, with a female:male ratio of 1:1.1
In most cases, the cause of acoustic neuromas is unknown. The only statistically significant risk factor for developing an acoustic neuroma is having a rare genetic condition called neurofibromatosis type 2 (NF2). There are no confirmed environmental risk factors for acoustic neuroma. There are conflicting studies on the association between acoustic neuromas and cellular phone use and repeated exposure to loud noise. In 2011, an arm of the World Health Organization released a statement listing cell phone use as a low grade cancer risk. The Acoustic Neuroma Association recommends that cell phone users use a hands-free device.
Meningiomas are significantly more common in women than in men; they are most common in middle-aged women. Two predisposing factors associated with meningiomas for which at least some evidence exists are exposure to ionizing radiation (cancer treatment of brain tumors) and hormone replacement therapy.
The disorder has been reported in more than 100 families worldwide, though some sources cite up to 400 families, and it is inherited in an autosomal dominant pattern. It is considered to be under-diagnosed because of the variability in its expression. The pattern of mutations and spectrum of symptoms are heterogeneous between individuals. Less severe skin phenotypes are seen in women and people of both sexes who have a late onset of skin symptoms.
This is an uncommon lesion, usually affecting young patients (mean age, 30 years), with a male to female ratio of 2:1. The middle ear is involved, although it may extend to the external auditory canal if there is tympanic membrane perforation.
In one study, the number of new cases of cholesteatoma in Iowa was estimated in 1975–6 to be just under one new case per 10,000 citizens per year. Cholesteatoma affects all age groups, from infants through to the elderly. The peak incidence occurs in the second decade.
The adenoids, like all lymphoid tissue, enlarge when infected. Although lymphoid tissue does act to fight infection, sometimes bacteria and viruses can lodge within it and survive. Chronic infection, either viral or bacterial, can keep the pad of adenoids enlarged for years, even into adulthood. Some viruses, such as the Epstein-Barr Virus, can cause dramatic enlargement of lymphoid tissue. Primary or reactivation infections with Epstein Barr Virus, and certain other bacteria and viruses, can even cause enlargement of the adenoidal pad in an adult whose adenoids had previously become atrophied.
Myringosclerosis seems to be more common than tympanosclerosis. Most research has not been conducted upon the general, healthy population, but rather those with otitis media or patients who have had tympanostomy tubes in prior procedures. Of the children studied who had 'glue ear', and who were treated with tympanostomy tubing, 23-40% of cases had tympanosclerosis. One study suggested that people with atherosclerosis were more likely to have tympanosclerosis than otherwise healthy individuals.
The overall complication rate following surgery is around 20%; cerebrospinal fluid leak is the most common.
It is important that the patient attend periodic follow-up checks, because even after careful microscopic surgical removal, cholesteatomas may recur. Such recurrence may arise many years, or even decades, after treatment.
A "residual cholesteatoma" may develop if the initial surgery failed to completely remove the original; residual cholesteatomas typically become evident within the first few years after the initial surgery.
A "recurrent cholesteatoma" is a new cholesteatoma that develops when the underlying causes of the initial cholesteatoma are still present. Such causes can include, for example, poor eustachian tube function, which results in retraction of the ear drum, and failure of the normal outward migration of skin.
In a retrospective study of 345 patients with middle ear cholesteatoma operated on by the same surgeon, the overall 5-year recurrence rate was 11.8%. In a different study with a mean follow-up period of 7.3 years, the recurrence rate was 12.3%, with the recurrence rate being higher in children than in adults.
Verruciform xanthoma is most likely not a human papillomavirus associated lesion and the foam cells in the lesions are most likely derived from the monocyte—macrophage lineage. More research is needed is determine the cause.
Wide excision is the treatment of choice, although attempting to preserve hearing. Based on the anatomic site, it is difficult to completely remove, and so while there is a good prognosis, recurrences or persistence may be seen. There is no metastatic potential. Patients who succumb to the disease, usually do so because of other tumors within the von Hippel-Lindau complex rather than from this tumor.