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The most common hamartomas occur in the lungs. About 5–8% of all solitary lung nodules, about 75% of all benign lung tumors, are hamartomas. They almost always arise from connective tissue and are generally formed of cartilage, connective tissue, and fat cells, although they may include many other types of cells. The great majority of them form in the connective tissue on the outside of the lungs, although about 10% form deep in the linings of the bronchi. They can be worrisome, especially if situated deep in the lung, as it is sometimes difficult to make the important distinction between a hamartoma and a lung malignancy. An X-ray will often not provide a definitive diagnosis, and even a CT scan may be insufficient if the hamartoma lacks the typical cartilage and fat cells. Lung hamartomas may have popcorn-like calcifications on chest xray or computed tomography (CT scan).
Lung hamartomas are more common in men than in women, and may present additional difficulties in smokers.
Some lung hamartomas can compress surrounding lung tissue to a degree, but this is generally not debilitating and is often asymptomatic, especially for the more common peripheral growths. They are treated, if at all, by surgical resection, with an excellent prognosis: generally, the only real danger is the inherent possibility of surgical complications.
One of the most troublesome hamartomas occurs on the hypothalamus. Unlike most such growths, a hypothalamic hamartoma is symptomatic; it most often causes gelastic seizures, and can cause visual problems, other seizures, rage disorders associated with hypothalamic diseases, and early onset of puberty. The symptoms typically begin in early infancy and are progressive, often into general cognitive and/or functional disability. Moreover, resection is usually difficult, as the growths are generally adjacent to, or even intertwined with, the optic nerve. Symptoms tend to be resistant to medical control; however, surgical techniques are improving and can result in immense improvement of prognosis.
A bile duct hamartoma or biliary hamartoma, is a benign tumour-like malformation
of the liver.
They are classically associated with polycystic liver disease, as may be seen in the context of polycystic kidney disease, and represent a malformation of the liver plate.
At CT scans, bile duct hamartomas appear as small, well-defined hypo- or isoattenuating masses with little or no enhancement after contrast administration. At MRI, they appear hypointense on T1-weighted images, iso- or slightly hyperintense on T2-weighted images, and hypointense after administration of gadolinium based contrast-agent. On imaging, multiple hamartomas may look similar to metastases or microabscesses.
Patients are usually asymptomatic at diagnosis. As a result, disease is often advanced at diagnosis.
Choristomas, forms of heterotopia, are closely related benign tumors, found in abnormal locations.
It is different from hamartoma. The two can be differentiated as follows: a hamartoma is disorganized overgrowth of tissues in their normal location, (eg, Peutz-Jeghers polyps) while a choristoma is normal tissue growth in an abnormal location (e.g., gastric tissue located in distal ileum in Meckel diverticulum).
Hepatoblastoma is an uncommon malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. They usually present with an abdominal mass. The disease is most commonly diagnosed during a child's first three years of life. Alpha-fetoprotein (AFP) levels are commonly elevated, but when AFP is not elevated at diagnosis the prognosis is poor.
People with Cowden syndrome develop characteristic lesions called hamartomas, which are small, noncancerous growths that are most commonly found on the skin and mucous membranes (such as the lining of the mouth, nose, and intestines), but can also occur other parts of the body, such as the thyroid and breast. The majority of affected individuals develop the characteristic skin lesions by 20 years of age.
Hamartomas are typically benign; however, people with Cowden syndrome are at increased risk of developing several types of cancer, including cancers of the breast, thyroid, uterus (endometrial), and kidney cancers. Two thirds of people have thyroid abnormalities, which usually consist of follicular adenomas (benign) or multinodular goiter of the thyroid. Up to 10 percent of people with Cowden Syndrome develop follicular thyroid cancer.
Skin abnormalities in people with Cowdens syndrome can include oral and skin papillomas and benign growths of the skin called trichilemmomas. Additional signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly), a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the esophagus. Up to 75% have benign breast conditions such as ductal hyperplasia, intraductal papillomatosis, adenosis, lobular atrophy, fibroadenomas, and fibrocystic changes.
Angiomyofibroblastoma is an uncommon benign mesenchymal tumor. It occurs almost in the vulvovaginal area of women, but can also be observed in men.
The gross features of AMFB are well-circumscribed. Usually, most tumors grow slowly, and patients do not feel pain. It also has low tendency for local recurrence.
Doege–Potter syndrome (DPS) is a paraneoplastic syndrome in which hypoglycemia is associated with solitary fibrous tumors. The hypoglycemia is the result of the tumors producing insulin-like growth factor 2. The syndrome was first described in 1930, by Karl Walter Doege (1867–1932), a German-American physician and by Roy Pilling Potter (1879–1968), an American radiologist, working independently; the full term "Doege–Potter syndrome" was infrequently used until the publication of a 2000 article using the eponym.
DPS is rare (as of 1976, less than one hundred cases were described), with a malignancy rate of 12–15%. Actual rates of hypoglycemia associated with a fibrous tumor are quite rare (a 1981 study of 360 solitary fibrous tumors of the lungs found that only 4% caused hypoglycemia), and are linked to large tumors with high rates of mitosis. Removal of the tumor will normally resolve the symptoms.
Tumors causing DPS tend to be quite large; in one case a , mass was removed, sufficiently large to cause a collapsed lung. In X-rays, they appear as a single mass with visible, defined borders, appearing at the edges of the lungs or a fissure dividing the lobes of the lungs. Similar hypoglycemic effects have been related to mesenchymal tumors.
Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present. The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue.
Some individuals have thyroid issues consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer,
most lesions are slowly growing. Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression
Liver tumors or hepatic tumors are tumors or growths on or in the liver (medical terms pertaining to the liver often start in "hepato-" or "hepatic" from the Greek word for liver, "hepar"). Several distinct types of tumors can develop in the liver because the liver is made up of various cell types. These growths can be benign or malignant (cancerous). They may be discovered on medical imaging (even for a different reason than the cancer itself), or may be present in patients as an abdominal mass, hepatomegaly, abdominal pain, jaundice, or some other liver dysfunction.
There are several types of benign liver tumor.
Hemangiomas: These are the most common type of benign liver tumor, found in up to 7% of autopsy specimens. They start in blood vessels. Most of these tumors do not cause symptoms and do not need treatment. Some may bleed and need to be removed if it is mild to severe. A rare tumor is Infantile hemangioendothelioma.
Hepatic adenomas: These benign epithelial liver tumors develop in the liver and are also an uncommon occurrence, found mainly in women using estrogens as contraceptives, or in cases of steroid abuse. They are, in most cases, located in the right hepatic lobe and are frequently seen as solitary. The size of adenomas range from 1 to 30 cm. Symptoms associated with hepatic adenomas are all associate with large lesions which can cause intense abdominal pain. Over the last few decades there has been an increase with occurrences of this specific type of adenoma. The prognosis for these tumors has still not been mastered. Some correlations have been made such as malignant transformation, spontaneous hemorrhage, and rupture.
Focal nodular hyperplasia (FNH) is the second most common tumor of the liver. This tumor is the result of a congenital arteriovenous malformation hepatocyte response. This process is one in which all normal constituents of the liver are present, but the pattern by which they are presented is abnormal. Even though those conditions exist the liver still seems to perform in the normal range. Other types include nodular regenerative hyperplasia and hamartoma.
Cowden syndrome (also known as Cowden's disease and sometimes as multiple hamartoma syndrome) is a rare autosomal dominant inherited disorder characterized by multiple non-cancerous tumor-like growths called hamartomas, which typically are found in the skin, mucous membranes (mouth, nasal membranes, GI tract), thyroid gland, and breast tissue. While the hamartomas are benign, people with Cowden syndrome are at increased risk of certain forms of cancer, including breast, thyroid, uterus (endometrial), and kidney cancers.
Cowden syndrome is associated with mutations in PTEN, a tumor suppressor gene, that cause the PTEN protein not to work properly leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a predisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.
Age of onset is variable. The term 'Juvenile' in the title of Juvenile polyposis syndrome refers to the histological type of the polyps rather than age of onset.
Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps.
Microscopical examination shows abundant thin-walled blood vessels with hypocellular and hypercellular areas.
A basaloid follicular hamartoma is a cutaneous condition characterized as distinctive benign adnexal tumor that has several described variants.
Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. These usually begin appearing before age 20, but the term "juvenile" refers to the type of polyp, not to the age of the affected person. While the majority of the polyps found in Juvenile Polyposis Syndrome are non-neoplastic, hamartomatous, self-limiting and benign, there is an increased risk of adenocarcinoma.
Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either:
1. More than five juvenile polyps in the colon or rectum; or
2. Juvenile polyps throughout the gastrointestinal tract; or
3. Any number of juvenile polyps in a person with a family history of juvenile polyposis.
Hemangioendotheliomas may be classified as:
- "Epithelioid sarcoma-like hemangioendothelioma" is an exceedingly rare vascular tumor of intermediate grade that was first described by Steven Billings, Andrew Folpe, and Sharon Weiss in 2003. These tumors are so named because their histologic appearance is very similar to that of epithelioid sarcoma, a more malignant tumor with which they are commonly mistaken.
- "Composite hemangioendothelioma" is a low-grade angiosarcoma typically occurring in adults, although it has been described in infancy.
- "Spindle-cell hemangioendothelioma") is a vascular tumor that was first described in 1986 by Sharon Weiss, M.D., and commonly presents in a child or young adult who develops blue nodules of firm consistency on a distal extremity. These tumors were reclassified by Dr. Weiss in 1996 as "spindle cell hemangioma", rather than hemangioendothelioma, due to the excellent prognosis observed in a group of 78 patients.
- "Retiform hemangioendothelioma" (also known as a "Hobnail hemangioendothelioma") is a low-grade angiosarcoma, first described in 1994, presenting as a slow-growing exophytic mass, dermal plaque, or subcutaneous nodule.
- "Kaposiform hemangioendothelioma" (also known as "Infantile kaposiform hemangioendothelioma") is an uncommon vascular tumor, first described by Niedt, Greco, et al. (Hemangioma with Kaposi's sarcoma-like features: report of two cases.(Niedt GW, Greco MA, Wieczorek R, Blanc WA, Knowles DM 2nd. that affects infants and young children, with rare cases having also been reported in adults.Pediatr Pathol. 1989;9(5):567-75.)
- "Endovascular papillary angioendothelioma", also known as "Dabska tumor", "papillary intralymphatic angioendothelioma" (PILA), "Dabska-type hemangioendothelioma", "hobnail hemangioendothelioma", and "malignant endovascular papillary angioendothelioma", is a rare low-grade angiosarcoma of lymphatic channels. Approximately 30 such tumors have been described in the medical literature. Although included in the World Health Organization tumor classification, there is uncertainty as to whether EPA is a distinct entity or a heterogenous group of tumours. The lesion usually presents as a slow-growing tumor of the skin and subcutaneous tissues of the head, neck, or extremity, of infants or young children. However, EPA has involved the testicle, deep muscle tissue as a neoplastic transformation of a larger existing benign cavernous hemangioma, bone and spleen, and has been found in adults. Some reports indicate a good prognosis but metastasis is occasionally seen.
- "Infantile hemangioendothelioma" is a rare benign vascular tumour arising from mesenchymal tissue and is usually located in the liver. It often presents in infancy with cardiac failure because of extensive arteriovenous shunting within the lesion. It is the third most common liver tumor in children, the most common benign vascular tumor of the liver in infancy, and the most common symptomatic liver tumor during the first 6 months of life. These hemangioendotheliomas have 2 growth phases: an initial rapid growth phase, which is followed by a period of spontaneous involution (usually within the first 12 to 18 months of life). Detection of the hemangioendothelioma within the first 6 months of life is attributed to the initial rapid growth during this time; however, the tumor has been detected with fetal ultrasonography. Histopathologically, there are 2 types of hepatic hemangioendotheliomas:
- Type I: Hemagioendotheliomas of this type have multiple vascular channels that are formed by an immature endothelial lining with stromal separation from bile ductules.
- Type II: These hemangioendotheliomas have an appearance that is more disorganized and hypercellular, and there are no bile ductules.
Hemangioendothelioma is used to describe a group of vascular neoplasms that may be considered benign as well as malignant, depending on the specific group member's activity.
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.
The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.
Typical signs and symptoms of Wilms tumor include the following:
- a painless, palpable abdominal mass
- loss of appetite
- abdominal pain
- fever
- nausea and vomiting
- blood in the urine (in about 20% of cases)
- high blood pressure in some cases (especially if synchronous or metachronous bilateral kidney involvement)
Fibroepithelial neoplasms (or tumors) are biphasic tumors. This means they consist of epithelial tissue, and stromal or mesenchymal tissue. They may be benign or malignant.
Examples include:
- Brenner tumor of the Ovary
- Fibroadenoma of the Breast
- Phyllodes tumor of the Breast
Folliculosebaceous cystic hamartoma abbreviated as (FSCH) is a rare cutaneous hamartoma consisting of dilated folliculosebaceous units invested in mesenchymal elements. it typically affects adults, have a predilection for the central face or scalp, with less than 1.5 cm dimension. Clinically, the lesions are asymptomatic, rubbery to firm in consistency, and usually occur on or above the neck in (> 90%) of cases, Histopathologically, FSCH shares several similar features to sebaceous trichofolliculoma, but it is usually possible to differentiate these two tumors.
Clear cell sarcoma of the kidney (CCSK) is an extremely rare type of kidney cancer comprising 3% of all pediatric renal tumours. Clear cell sarcoma of the kidney can spread from the kidney to other organs, most commonly the bone, but also including the lungs, brain, and soft tissues of the body.
Despite the similarities in names, "clear cell sarcoma of the kidney" is unrelated to clear cell sarcoma of soft tissue, also known as malignant melanoma of soft parts.