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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
Almost all women present with uterine fibroids, approximately 76% with dermal manifestations and 10-16% with renal tumors.
The uterine fibroids tend to occur at younger age and larger and more numerous than in general population. They may be distinguishable from sporadic fibroids by special histological features such as prominent nucleoli with perinucleolar halos.
The skin presentation is of asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs (multiple cutaneous leiomyoma), although they may occur anywhere, including the face. The lesions, which are typically painful and most often present during the third decade of life, are piloleiomyomata—a benign smooth muscle tumour arising from the arrectores pilorum muscles of the skin. These tumours may also arise in the tunica dartos of the scrotum and the mammillary muscle of the nipple (genital leiomyoma), the smooth muscle of blood vessels (angioleiomyoma) and the lung (pulmonary lymphangioleiomyomatosis). A pseudo-Darier sign may be present.
The renal cell carcinoma tends to be of the papillary (type 2) form and tends to occur more commonly in women than men with this syndrome. These cancers present earlier than is usual for renal cell carcinomas (typically in the twenties and thirties) and to be at relatively advanced stages at presentation. Tumours have rarely been reported in children. These tumours occur in ~20% of those with this mutation suggesting that other factors are involved in the pathogenesis.
Benign metastasizing leiomyoma is a rare condition characterized by the growth of uterine leiomyoma in the other regions especially the lungs.
Atypical hyperplasia is a high-risk premalignant lesion of the breast. It is believed that atypical ductal hyperplasia (ADH) is a direct precursor for low-grade mammary ductal carcinoma, whereas atypical lobular hyperplasia (ALH) serves as a risk indicator.
Leiomyomas of the skin are generally (1) acquired, and (2) divided into several categories:
- Solitary cutaneous leiomyoma
- Multiple cutaneous (or pilar) leiomyomas arising from the arrectores pilorum muscles
- Angioleiomyomas (Vascular leiomyomas) that are thought to arise from vascular smooth muscle
- Dartoic (or genital) leiomyomas originating in the dartos muscles of the genitalia, areola, and nipple
- Angiolipoleiomyoma
Mesenchymal neoplasms of the gallbladder are rare and in particular leiomyomas of the gallbladder have been rarely reported, all of them in patients with immune system disorders. Although, recently, a case was reported in absence of associated immunodeficiency at Monash Hospital in Melbourne Australia in a healthy 39-year-old woman with no symptoms.
Atypical hyperplasia is a benign (noncancerous) cellular hyperplasia in which cells show some atypia. In this condition, cells look abnormal under a microscope and are increased in number.
Reed’s syndrome (or familial leiomyomatosis cutis et uteri) is a rare inherited condition characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas. It predisposes for renal cell cancer, an association denominated hereditary leiomyomatosis and renal cell cancer, and it is also associated with increased risk of uterine leiomyosarcoma. The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate. The inheritance pattern is autosomal dominant.
IFPs consist of spindle cells that are concentrically arranged around blood vessels and have inflammation, especially eosinophils.
They may have leiomyoma/schwannoma-like areas with nuclear palisading.
They typically stain with CD34 and vimentin, and, generally, do not stain with CD117 and S100.
The endoscopic differential diagnosis includes other benign, pre-malignant and malignant gastrointestinal polyps.
Intravenous leiomyomatosis is a rare condition seen exclusively in women in which leiomyomata, benign smooth muscle tumors, are found in veins. The masses are benign-appearing but can spread throughout the venous system leaving the uterus and even cause death when growing into the heart from the IVC. While the possibility that these arose de novo from the smooth muscle in the blood vessel wall was considered, chromosomal analysis suggests a uterine origin. Intravenous leiomyomata are usually but not always associated with uterine fibroids, and tend to recur.
This condition is related to benign metastasizing leiomyoma, in which the masses appear in more distant locations such as the lung and lymph nodes.
Inflammatory fibroid polyp, abbreviated IFP, is a benign abnormal growth of tissue projecting into the lumen of the gastrointestinal tract.
Angioleiomyoma (vascular leiomyoma, angiomyoma) of the skin is thought to arise from vascular smooth muscle, and is generally acquired.
Smooth muscle tumor of uncertain malignant potential, abbreviated STUMP, is an uncommon tumor of the uterine smooth muscle that may behave like a benign tumor or a cancerous tumor.
This tumor should not be confused with the prostatic stromal tumor of uncertain malignant potential which may be abbreviated the same way ("STUMP").
The Bell criteria were developed to help categorize them and differentiate them from their main differential diagnoses, leiomyosarcoma and uterine leiomyoma.
PUNLMPs can lead to blood in the urine (hematuria) or may be asymptomatic.
In urologic pathology, PUNLMP, short for papillary urothelial neoplasm of low malignant potential, is an exophytic (outward growing), (microscopically) nipple-shaped (or papillary) pre-malignant growth of the lining of the upper genitourinary tract (the urothelium), which includes the renal pelvis, ureters, urinary bladder and part of the urethra.
"PUNLMP" is pronounced "pun"-"lump", like the words "pun" and "lump".
As their name suggests, PUNLMPs are neoplasms, i.e. clonal cellular proliferations, that are thought to have a low probability of developing into urothelial cancer, i.e. a malignancy such as bladder cancer.
An invasive tumor arising from a classical lentigo maligna. Usually a darkly pigmented raised papule or nodule, arising from a patch of irregularly pigmented flat brown to dark brown lesion of sun exposed skin of the face or arms in an elderly patient.
Blue nevi may be divided into the following types:
- A "patch blue nevus" (also known as an "acquired dermal melanocytosis", and "dermal melanocyte hamartoma") is a cutaneous condition characterized by a diffusely gray-blue area that may have superimposed darker macules.
- A "blue nevus of Jadassohn–Tièche" (also known as a "common blue nevus", and "nevus ceruleus") is a cutaneous condition characterized by a steel-blue papule or nodule.
- A "cellular blue nevus" is a cutaneous condition characterized by large, firm, blue or blue-black nodules.
- An "epithelioid blue nevus" is a cutaneous condition most commonly seen in patients with the Carney complex.
- A "deep penetrating nevus" is a type of benign melanocytic skin tumor characterized, as its name suggests, by penetration into the deep dermis and/or subcutis. Smudged chromatic is a typical finding. In some cases mitotic figures or atypical melanocytic cytology are seen, potentially mimicking a malignant melanoma. Evaluation by an expert skin pathologist is advisable in some cases to help differentiate from invasive melanoma.
- An "amelanotic blue nevus" (also known as a "hypomelanotic blue nevus") is a cutaneous condition characterized by mild atypia and pleomorphism.
- A "malignant blue nevus" is a cutaneous condition characterized by a sheet-like growth pattern, mitoses, necrosis, and cellular atypia.
They are of two types.
- The leiomyoma occurs in the skin or gut but the common form is the uterine fibroid.
- Rhabdomyomas are rare tumors of muscles, they occur in childhood and often become malignant.
Solitary cutaneous leiomyoma typically presents as a deeply circumscribed, freely movable, rounded nodule ranging from 2 to 15mm in diameter, with overlying skin that may have a reddish or violaceous tint.
To remove the tumor from the body, a myomectomy or hysterectomy is often required.
Lentigo maligna melanoma is a melanoma that has evolved from a lentigo maligna. They are usually found on chronically sun damaged skin such as the face and the forearms of the elderly. The nomenclature is very confusing to both patients and physicians alike.
Lentigo maligna is the non-invasive skin growth that some pathologists consider to be a melanoma-in-situ. A few pathologists do not consider lentigo maligna to be a melanoma at all, but a precursor to melanomas. Once a lentigo maligna becomes a lentigo maligna melanoma, it is treated as if it were an invasive melanoma.
Smooth muscle tumours show a smooth muscle differentiation. There are two main types of smooth muscle tumour: the benign leiomyoma and the malignant leiomyosarcoma.
Gastrointestinal intraepithelial neoplasia (GIN or GIIN), also known as "digestive epithelial dysplasia" is abnormal growth (cellular dysplasia) of digestive epithelial cells in the digestive mucosa.
Gastrointestinal intraepithelial neoplasia is the potentially premalignant transformation.
Since 2000, they are classified according to the Vienna classification.
A chorangioma is a non-neoplastic, hamartoma-like growth in the placenta consisting of blood vessels.
Mucinous cystadenocarcinoma is a type of tumor in the cystadenocarcinoma grouping.
It can occur in the breast as well as in the ovary. Tumors are normally multilocular with various smooth, thin walled cysts. Within the cysts is found a haemorrhagic or cellular debris.
Mammary analogue secretory carcinoma (MASC) (also termed MASC; the "SG" subscript indicates salivary gland)) is a salivary gland neoplasm that shares a genetic mutation with certain types of breast cancer. MASC was first described by Skálová et al. in 2010. The authors of this report found a chromosome translocation in certain salivary gland tumors that was identical to the (12;15)(p13;q25) fusion gene mutation found previously in secretory carcinoma, a subtype of invasive ductal carcinoma of the breast.