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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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In order to establish whether the lump is a cyst or not, several imaging tests may be performed. Mammography is usually the first imaging test to be ordered when unusual breast changes have been detected during a physical examination. A diagnostic mammography consists in a series of x-rays that provide clear images of specific areas of the breast.
Ultrasounds and MRIs are commonly performed in conjunction with mammographies as they produce clear images of the breast and clearly distinguish between fluid-filled breast cysts and solid masses. The ultrasound and MRI exams can better evaluate dense tissue of the breast; hence it is often undergone by young patients, under 30 years old.
Diagnosis is mostly done based on symptoms after exclusion of breast cancer. Nipple fluid aspiration can be used to classify cyst type (and to some extent improve breast cancer risk prediction) but it is rarely used in practice. Biopsy or fine needle aspiration are rarely warranted.
Fibrocystic breast disease is primarily diagnosed based on the symptoms, clinical breast exam and on a physical exam. During this examination, the doctor checks for unusual areas in the breasts, both visually and manually. Also, the lymph nodes in the axilla area and lower neck are examined. A complete and accurate medical history is also helpful in diagnosing this condition. If the patient's medical history and physical exam findings are consistent with normal breast changes, no additional tests are considered but otherwise the patient will be asked to return a few weeks later for reassessment. Women may detect lumps in their breasts during self-examination as well.
The cystic nature of a breast lump can be confirmed by ultrasound examination, aspiration (removal of contents with needle), or mammogram. Ultrasound can also show if the cyst contains solid nodules, a sign that the lesion may be pre-cancerous or cancerous. Examination by a cytopathologist of the fluid aspirated from the cyst may also help with this diagnosis. In particular, it should be sent to a laboratory for testing if it is blood-stained.
Commonly, cysts are detected with the help of mammograms. However, the medical history and physical examination also play an important role in establishing an accurate diagnosis. During these tests, the doctor will try to find out as much information as possible regarding the symptoms the patient has experienced, their intensity and duration and the physical examination is performed regularly to check for other abnormalities that may exist within the breast.
As mentioned above, cysts are often undetectable at touch. Therefore, a mammogram can provide valuable and clear images of the breast tissue. Generally, if there is any abnormality within the breast tissue, it will be shown on the mammogram. There are two types of mammograms available. One of them is primarily used in screening, and are ordered for patients who do not show any symptoms and these are called screening mammograms. Diagnostic mammograms are used on patients who developed certain symptoms of a breast condition or in patients whose screening mammograms showed abnormalities.
Patients suspected of breast cysts will normally be given a diagnosing mammogram, although they are not suspected of cancer. This type of mammogram provides the doctor with the possibility of performing a breast ultrasound at the same time and this is the reason why they are often preferred over the screening mammograms. Breast ultrasound is considered the best option when diagnosing breast cysts because it is 95 to 100% accurate, it provides a clear image on the cyst's appearance (simple or complex) and it may also distinguish between solid lumps and fluid-filled cysts, which a mammogram cannot do. Breast ultrasounds are performed with the help of a handheld medical instrument which is placed on the skin, after a special type of fluid has been applied on it. The instruments picks up the echo resulted from the sound waves it sends to the breast. These echoes are transmitted to a computer which translates it into a picture.
Breast cysts may remain stable for many years or may resolve spontaneously. Most simple cysts are benign and do not require any treatment or further diagnostic workup. Some complex cysts may require further diagnostic measures such as fine needle aspiration or biopsy to exclude breast cancer however the overwhelming majority is of benign nature. Aspiration both diagnoses and removes cysts at the same time. That is, cysts will usually resolve on their own after the fluid is drained. Otherwise, if the lump is not a cyst, the fluid aspirated may contain blood or there may not be fluid at all. Whereas in the first case, the fluid is sent to the laboratory for further examination, the latter circumstance is a sign that the breast lump is solid. This type of tumor needs to be biopsied in order to determine whether it is malignant or benign.
Most of the time, nipple problems are not breast cancer. These problems will either go away with the right treatment, or they can be watched closely over time.
Breast cancer screening refers to testing otherwise-healthy women for breast cancer in an attempt to achieve an earlier diagnosis under the assumption that early detection will improve outcomes. A number of screening tests have been employed including clinical and self breast exams, mammography, genetic screening, ultrasound, and magnetic resonance imaging.
A clinical or self breast exam involves feeling the breast for lumps or other abnormalities. Clinical breast exams are performed by health care providers, while self-breast exams are performed by the person themselves. Evidence does not support the effectiveness of either type of breast exam, as by the time a lump is large enough to be found it is likely to have been growing for several years and thus soon be large enough to be found without an exam. Mammographic screening for breast cancer uses X-rays to examine the breast for any uncharacteristic masses or lumps. During a screening, the breast is compressed and a technician takes photos from multiple angles. A general mammogram takes photos of the entire breast, while a diagnostic mammogram focuses on a specific lump or area of concern.
A number of national bodies recommend breast cancer screening. For the average woman, the U.S. Preventive Services Task Force recommends mammography every two years in women between the ages of 50 and 74, the Council of Europe recommends mammography between 50 and 69 with most programs using a 2-year frequency, and in Canada screening is recommended between the ages of 50 and 74 at a frequency of 2 to 3 years. These task force reports point out that in addition to unnecessary surgery and anxiety, the risks of more frequent mammograms include a small but significant increase in breast cancer induced by radiation.
The Cochrane collaboration (2013) states that the best quality evidence neither demonstrates a reduction in cancer specific, nor a reduction in all cause mortality from screening mammography. When less rigorous trials are added to the analysis there is a reduction in mortality due to breast cancer of 0.05% (a decrease of 1 in 2000 deaths from breast cancer over 10 years or a relative decrease of 15% from breast cancer). Screening over 10 years results in a 30% increase in rates of over-diagnosis and over-treatment (3 to 14 per 1000) and more than half will have at least one falsely positive test. This has resulted in the view that it is not clear whether mammography screening does more good or harm. Cochrane states that, due to recent improvements in breast cancer treatment, and the risks of false positives from breast cancer screening leading to unnecessary treatment, "it therefore no longer seems beneficial to attend for breast cancer screening" at any age. Whether MRI as a screening method has greater harms or benefits when compared to standard mammography is not known.
The diagnosis of nipple discharge will be determined upon an examination by a health provider who will ask questions about symptoms and medical history. Tests that may be done include:
- Prolactin blood test
- Thyroid blood tests
- Head CT scan or MRI to look for pituitary tumor
- Mammography
- Ultrasound of the breast
- Breast biopsy
- Ductography or ductogram: an x-ray with contrast dye injected into the affected milk duct
- Skin biopsy, if Paget disease is a concern
The only reliable method of diagnosis is full-thickness skin biopsy. Mammography, MRI or ultrasound often show suspicious signs; however in a significant proportion of cases they would miss a diagnosis.
Clinical presentation is typical only in 50-75% of cases; and many other conditions such as mastitis or even heart insufficiency can mimic the typical symptoms of Inflammatory Breast Cancer.
Temporary regression or fluctuation of symptoms, spontaneous or in response to conventional treatment or hormonal events should not be considered of any significance in diagnosis. Treatment with antibiotics or progesterone have been observed to cause a temporary regression of symptoms in some cases.
Recommended tests are a mammogram and a biopsy to confirm the diagnosis, and cytopathology may also be helpful. Paget's disease is difficult to diagnose due to its resemblance to dermatitis and eczema; even in patients after ductal carcinoma in situ surgery. Eczema tends to affect the areola first, and then the nipple, whereas Paget's spreads from the nipple.
During a physical examination, the doctor examines the unusual areas of the breast, especially the appearance of the skin on and around the nipples and feeling for any lumps or areas of thickening.
The most common test used to diagnose Paget's disease is the biopsy, removal of a tissue sample from the affected area which is then examined under the microscope by a pathologist, who distinguishes Paget cells from other cell types by staining tissues to identify specific cells (immunohistochemistry). Samples of nipple discharge may also be examined under the microscope to determine whether Paget cells are present.
Imprint or scrape cytopathology may be useful: scraping cells from the affected area, or pressing them onto a glass slide to be examined under the microscope.
On average, a woman may experience signs and symptoms for six to eight months before a diagnosis is made.
Typically self-examination leads to the detection of a lump in the breast which requires further investigation. Other less common symptoms include nipple discharge, nipple retraction. swelling of the breast, or a skin lesion such as an ulcer. Ultrasound and mammography may be used for its further definition. The lump can be examined either by a needle biopsy where a thin needle is placed into the lump to extract some tissue or by an excisional biopsy where under local anesthesia a small skin cut is made and the lump is removed. Not all palpable lesions in the male breast are cancerous, for instance a biopsy may reveal a benign fibroadenoma. In a larger study from Finland the average size of a male breast cancer lesion was 1.8 cm. Beside the histologic examination estrogen and progesterone receptor studies are performed. Further, the HER2 test is used to check for a growth factor protein. Its activity can be increased in active cancer cells and helps determine if monoclonal antibody therapy (i.e. Trastuzumab) may be useful.
Male breast cancer can recur locally after therapy, or can become metastatic.
The development of breast cysts may be prevented to some degree, according to the majority of the specialists. The recommended measures one is able to take in order to avoid the formation of the cysts include practicing good health and avoiding certain medications, eating a balanced diet, taking necessary vitamins and supplements, getting exercise, and avoiding stress.
Although caffeine consumption does not have a scientifically proved connection with the process of cyst development, many women claim that their symptoms are relieved if avoiding it. Some doctors recommend reducing the amount of caffeine in one's diet in terms of both beverages and foods (such as chocolate). Also reducing salt intake may help in alleviating the symptoms of breast cysts, although, again, there is no scientific linkage between these two. Excessive sugar consumption as well as undetected food allergies, such as to gluten or lactose, may also contribute to cyst development.
A fibroadenoma is usually diagnosed through clinical examination, ultrasound or mammography, and often a needle biopsy sample of the lump.
The selective estrogen receptor modulators (such as tamoxifen) reduce the risk of breast cancer but increase the risk of thromboembolism and endometrial cancer. There is no overall change in the risk of death. They are thus not recommended for the prevention of breast cancer in women at average risk but may be offered for those at high risk. The benefit of breast cancer reduction continues for at least five years after stopping a course of treatment with these medications.
Surgery has traditionally played a limited role in the treatment of IBC because it is considered essentially a systemic cancer. However, the role of surgical intervention is being reevaluated and is now considered to be an important part of the overall treatment process. The standard treatment for newly diagnosed inflammatory breast cancer is to receive systemic therapy prior to surgery. Achieving no disease in the surgical samples gives the best prognosis. Surgery is modified radical mastectomy. Lumpectomy, segmentectomy, or skin sparing mastectomy is not recommended. Immediate reconstruction is not recommended. Upfront surgery is contraindicated. After surgery, all cases are recommended for radiation therapy unless it is contraindicated.
Because the aggressive nature of the disease, it is highly recommended to be seen by IBC specialist by a multidisciplinary team.
Further, it is critical to seek novel targeted therapy in a clinical trial setting. Three modalities, surgery, chemotherapy, and radiation are under-utilized in the USA. Estrogen and Progesterone receptor positive cases have not shown to have a better prognosis. Pathological complete response to preoperative chemotherapy imparts a more favorable prognosis than a pathologically incomplete response. Loss of heterozygosity and extensive breast inflammation upon first clinical examination have a significantly worse prognosis. Premenopausal cases have significantly worse prognosis. In postmenopausal cases lean women have significantly better prognosis than obese women. Among patients with distant metastasis at diagnosis (stage IV disease), The overall survival (OS) is worse in patients with IBC than in those with non-IBC.
Multiple imaging modalities may be necessary to evaluate abnormalities of the nipple-areolar complex.
In two studies performed in Japan, high-resolution MRI with a microscopy coil yielding 0.137-mm in-plane resolution has been used to confirm the presence of abscesses, isolated fistulas and inflammation and to reveal their position in order to guide surgery.
The presence of three factors for the prognosis has been suggested, whether there is a palpable mass of the disease, whether lymph nodes are positive and whether there is an underlying malignant cancer.
If there is none of these, the five- and 10-year survival is 85% and 80% respectively, with adjuvant chemotherapy even 95% and 90%. If there is a palpable mass, it is 32% and 31% respectively, with adjuvant chemotherapy (40% and 35%).
Positive lymph-nodes have been positively associated with a palpable mass and affect the prognosis to be now just 28% survival after 10 years (vs 79% without palpable mass and without affected lymph-nodes). Involvement of the lymph nodes does not directly cause any harm, but is merely an indicator of systemic spread.
Furthermore, patients with an identifiable associated underlying breast tumor have a survival rate of 38-40% at five years and a survival rate of 22-33% at 10 years. The death rate of metastatic breast carcinoma in patients with mammary Paget's disease and underlying cancer is 61.3%, with a 10-year cumulative survival rate of 33%.
In addition to TNM staging surgical staging for breast cancer is used; it is the same as in female breast cancer and facilitates treatment and analysis.
The presence of a radial scar on imaging mandates a percutaneous core biopsy for histologic diagnosis. Excisional biopsy is usually recommended for radial scar, although it has been argued that core biopsy evaluation and surveillance may be appropriate in selected patients.
The FDA has approved cryoablation of a fibroadenoma as a safe, effective and minimally-invasive alternative to open surgical removal in 2001. In the procedure, ultrasound imaging is used to guide a probe into the mass of breast tissue. Extremely cold temperatures are then used to destroy the abnormal cells, and over time the cells are reabsorbed into the body. The procedure can be performed as an outpatient surgery using local anesthesia only, and leaves substantially less scarring than open surgical procedures and no breast tissue deformation.
The American Society of Breast Surgeons recommends the following criteria to establish a patient as a candidate for cryoablation of a fibroadenoma:
1. The lesion must be sonographically visible.
2. The diagnosis of a fibroadenoma must be confirmed histologically.
3. The lesion should be less than 4 cm in diameter.
80% of cases in the United States are diagnosed by mammography screening.
Ruling out the other possible causes of the pain is one way to differentiate the source of the pain. Breast pain can be due to:
- angina pectoris
- anxiety and depression
- bra
- blocked milk duct
- breastfeeding
- chest wall muscle pain
- consensual, rough sex
- costal chondritis (sore ribs)
- cutaneous candida infection
- duct ectasia (often with nipple discharge)
- engorgement
- fibroadenoma
- fibrocystic breast changes
- fibromyalgia
- gastroesophageal reflux disease
- herpes infection
- hormone replacement therapy
- mastalgia
- mastitis or breast infection
- menopause
- menstruation and Premenstrual syndrome
- perimenopause
- neuralgia
- pregnancy
- physical abuse
- pituitary tumor (often with nipple discharge)
- puberty in both girls and boys
- sexual abuse
- shingles
- sore nipples and cracked nipples
- surgery or biopsy
- trauma (including falls)
Medications can be associated with breast pain and include:
- Oxymetholone
- Chlorpromazine
- Water pills (diuretics)
- Digitalis preparations
- Methyldopa
- Spironolactone
Diagnostic testing can be useful. Typical tests used are mammogram, excisional biopsy for solid lumps, fine-needle aspiration and biopsy, pregnancy test, ultrasonography, and magnetic resonance imaging (MRI).
ADH, if found on a surgical (excisional) biopsy of a mammographic abnormality, does not require any further treatment, only mammographic follow-up.
If ADH is found on a core (needle) biopsy (a procedure which generally does not excise a suspicious mammographic abnormality), a surgical biopsy, i.e. a breast lumpectomy, to completely excise the abnormality and exclude breast cancer is the typical recommendation.
The rate at which breast cancer (ductal carcinoma in situ "or" invasive mammary carcinoma (all breast cancer except DCIS and LCIS)) is found at the time of a surgical (excisional) biopsy, following the diagnosis of ADH on a core (needle) biopsy varies considerably from hospital-to-hospital (range 4-54%). In two large studies, the conversion of an ADH on core biopsy to breast cancer on surgical excision, known as "up-grading", is approximately 30%.
Cyclical breast pain (cyclical mastalgia) is often associated with fibrocystic breast changes or duct ectasia and thought to be caused by changes of prolactin response to thyrotropin. Some degree of cyclical breast tenderness is normal in the menstrual cycle, and is usually associated with menstruation and/or premenstrual syndrome (PMS).
Noncyclical breast pain has various causes and is harder to diagnose. Noncyclical pain has frequently its root cause outside the breast. Some degree of non-cyclical breast tenderness can normally be present due to hormonal changes in puberty (both in girls and boys), in menopause and during pregnancy. After pregnancy, breast pain can be caused by breastfeeding. Other causes of non-cyclical breast pain include alcoholism with liver damage (likely due to abnormal steroid metabolism), mastitis and medications such as digitalis, methyldopa (an antihypertensive), spironolactone, certain diuretics, oxymetholone (an anabolic steroid), and chlorpromazine (a typical antipsychotic). Also, shingles can cause a painful blistering rash on the skin of the breasts.
A meta analysis of cohort studies of alcohol consumption and breast cancer mortality showed no association between alcohol consumption before or after breast cancer diagnosis and recurrence after treatment.
Radial scars are diagnosed by a microscopic examination of excised tissue, i.e. they are diagnosed by pathologists based on their histomorphology.