A biopsy is a
medical test
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic te ...
commonly performed by a
surgeon
In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as ...
,
interventional radiologist
Interventional radiology (IR) is a medical specialty that performs various minimally-invasive procedures using medical imaging guidance, such as x-ray fluoroscopy, computed tomography, magnetic resonance imaging, or ultrasound. IR performs bo ...
, or an
interventional cardiologist
Interventional cardiology is a branch of cardiology that deals specifically with the catheter based treatment of structural heart diseases. Andreas Gruentzig is considered the father of interventional cardiology after the development of angioplasty ...
. The process involves extraction of
sample
Sample or samples may refer to:
Base meaning
* Sample (statistics), a subset of a population – complete data set
* Sample (signal), a digital discrete sample of a continuous analog signal
* Sample (material), a specimen or small quantity of s ...
cells
Cell most often refers to:
* Cell (biology), the functional basic unit of life
Cell may also refer to:
Locations
* Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery w ...
or
tissues for examination to determine the presence or extent of a disease. The tissue is then
fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a
microscope
A microscope () is a laboratory instrument used to examine objects that are too small to be seen by the naked eye. Microscopy is the science of investigating small objects and structures using a microscope. Microscopic means being invisibl ...
by a
pathologist
Pathology is the study of the causal, causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when us ...
; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a
needle aspiration biopsy
Fine-needle aspiration (FNA) is a diagnostic procedure used to investigate lumps or masses. In this technique, a thin (23–25 gauge (0.52 to 0.64 mm outer diameter)), hollow needle is inserted into the mass for sampling of cells that, aft ...
. Biopsies are most commonly performed for insight into possible
cancerous
Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Poss ...
or inflammatory conditions.
History
The
Arab
The Arabs (singular: Arab; singular ar, عَرَبِيٌّ, DIN 31635: , , plural ar, عَرَب, DIN 31635: , Arabic pronunciation: ), also known as the Arab people, are an ethnic group mainly inhabiting the Arab world in Western Asia, ...
physician
Abulcasis
Abū al-Qāsim Khalaf ibn al-'Abbās al-Zahrāwī al-Ansari ( ar, أبو القاسم خلف بن العباس الزهراوي; 936–1013), popularly known as al-Zahrawi (), Latinised as Albucasis (from Arabic ''Abū al-Qāsim''), was ...
(1013–1107) developed one of the earliest diagnostic biopsies. He used a needle to puncture a
goiter
A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland. A goitre can be associated with a thyroid that is not functioning properly.
Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is ...
and then characterized the material.
Etymology
The term ''biopsy'' reflects the
Greek
Greek may refer to:
Greece
Anything of, from, or related to Greece, a country in Southern Europe:
*Greeks, an ethnic group.
*Greek language, a branch of the Indo-European language family.
**Proto-Greek language, the assumed last common ancestor ...
words , "life," and , "a sight."
The French dermatologist
Ernest Besnier
Ernest Henri Besnier (; 21 April 1831 – 15 May 1909, Paris) was a French dermatologist and medical director of the Hôpital Saint-Louis in Paris. He was a native of Honfleur, département Calvados.
He studied medicine in Paris, where in 18 ...
introduced the word to the medical community in 1879.
Medical use
Cancer
When cancer is suspected, a variety of biopsy techniques can be applied. An ''excisional biopsy'' is an attempt to remove an entire lesion. When the specimen is evaluated, in addition to diagnosis, the amount of uninvolved tissue around the lesion, the ''surgical margin'' of the specimen is examined to see if the disease has spread beyond the area biopsied. "Clear margins" or "negative margins" means that no disease was found at the edges of the biopsy specimen. "Positive margins" means that disease was found, and a wider excision may be needed, depending on the diagnosis.
When intact removal is not indicated for a variety of reasons, a wedge of tissue may be taken in an ''incisional biopsy''. In some cases, a sample can be collected by devices that "bite" a sample. A variety of sizes of needle can collect tissue in the lumen (''core biopsy''). Smaller diameter needles collect cells and cell clusters,
fine needle aspiration biopsy.
Pathologic
''Pathologic'' ( rus, Мор. Утопия, Mor. Utopiya, ˈmor ʊˈtopʲɪjə, , More. Utopia – a pun on Thomas More's ''Utopia'' and the Russian word for "plague") is a 2005 role-playing and survival game developed by Russian studio Ice-Pic ...
examination of a biopsy can determine whether a lesion is
benign
Malignancy () is the tendency of a medical condition to become progressively worse.
Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malign ...
or
malignant
Malignancy () is the tendency of a medical condition to become progressively worse.
Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not s ...
, and can help differentiate between different types of cancer. In contrast to a biopsy that merely samples a lesion, a larger excisional specimen called a resection may come to a pathologist, typically from a surgeon attempting to eradicate a known lesion from a patient. For example, a pathologist would examine a
mastectomy
Mastectomy is the medical term for the surgical removal of one or both breasts, partially or completely. A mastectomy is usually carried out to treat breast cancer. In some cases, women believed to be at high risk of breast cancer have the operat ...
specimen, even if a previous nonexcisional breast biopsy had already established the diagnosis of breast cancer. Examination of the full mastectomy specimen would confirm the exact nature of the cancer (subclassification of tumor and histologic "grading") and reveal the extent of its spread (
pathologic "staging").
Liquid biopsy
There are two types of liquid biopsy (which is not really a biopsy as they are blood tests that do not require a biopsy of tissue): circulating tumor cell assays or cell-free circulating tumor DNA tests.
These methods provide a non-invasive alternative to repeat invasive biopsies to monitor cancer treatment, test available drugs against the circulating tumor cells, evaluate the mutations in cancer and plan individualized treatments. In addition, because cancer is a heterogeneous genetic disease, and excisional biopsies provide only a snapshot in time of some of the rapid, dynamic genetic changes occurring in tumors, liquid biopsies provide some advantages over tissue biopsy-based genomic testing.
In addition, excisional biopsies are invasive, can't be used repeatedly, and are ineffective in understanding the dynamics of tumor progression and metastasis.
By detecting, quantifying and characterisation of vital circulating tumor cells or genomic alterations in CTCs and cell-free DNA in blood, liquid biopsy can provide real-time information on the stage of tumor progression, treatment effectiveness, and cancer metastasis risk.
This technological development could make it possible to diagnose and manage cancer from repeated blood tests rather than from a traditional biopsy.
Circulating tumor cell tests are already available but not covered by insurance yet a
maintracand under development by many pharmaceutical companies. Those tests analyze
circulating tumor cells A circulating tumor cell (CTC) is a cell that has shed into the vasculature or lymphatics from a primary tumor and is carried around the body in the blood circulation. CTCs can extravasate and become ''seeds'' for the subsequent growth of additional ...
(CTCs)
Analysis of individual CTCs demonstrated a high level of heterogeneity seen at the single cell level for both protein expression and protein localization and the CTCs reflected both the primary biopsy and the changes seen in the metastatic sites.
Analysis of cell-free circulating tumor DNA (cfDNA) has an advantage over circulating tumor cells assays in that there is approximately 100 times more cell-free DNA than there is DNA in circulating tumor cells.
[ These tests analyze fragments of tumor-cell DNA that are continuously shed by tumors into the bloodstream. Companies offering cfDNA next generation sequencing testing include Personal Genome Diagnostics and ]Guardant Health
Helmy Eltoukhy is an American scientist, entrepreneur, and investor best known for his contributions to genomics, semiconductor DNA sequencing, and personalized medicine. The co-founder of startups Avantome and Guardant Health, Eltoukhy was name ...
.[ These tests are moving into widespread use when a tissue biopsy has insufficient material for DNA testing or when it is not safe to do an invasive biopsy procedure, according to a recent report of results on over 15,000 advanced cancer patients sequenced with the Guardant Health test.]
A 2014 study of the blood of 846 patients with 15 different types of cancer in 24 institutions was able to detect the presence of cancer DNA in the body. They found tumor DNA in the blood of more than 80 percent of patients with metastatic cancers and about 47 percent of those with localized tumors. The test does not indicate the tumor site(s) or other information about the tumor. The test did not produce false positives.
Such tests may also be useful to assess whether malignant cells remain in patients whose tumors have been surgically removed. Up to 30 percent are expected to relapse because some tumor cells remain. Initial studies identified about half the patients who later relapsed, again without false positives.
Another potential use is to track the specific DNA mutations driving a tumor. Many new cancer medications block specific molecular processes. Such tests could allow easier targeting of therapy to tumor.
Precancerous conditions
For easily detected and accessed sites, any suspicious lesions may be assessed. Originally, this was skin or superficial masses. X-ray
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10 nanometers, corresponding to frequencies in the range 30&nb ...
, then later CT, MRI
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ...
, and ultrasound
Ultrasound is sound waves with frequency, frequencies higher than the upper audible limit of human hearing range, hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hea ...
along with endoscopy
An endoscopy is a procedure used in medicine to look inside the body. The endoscopy procedure uses an endoscope to examine the interior of a hollow organ or cavity of the body. Unlike many other medical imaging techniques, endoscopes are insert ...
extended the range.
Inflammatory conditions
A biopsy of the temporal arteries is often performed for suspected vasculitis
Vasculitis is a group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. Lymphangitis (inflammation of lymphatic vessels) is sometimes considered a type of vasculitis. Vasculitis is primarily caused b ...
.
In inflammatory bowel disease
Inflammatory bowel disease (IBD) is a group of inflammation, inflammatory conditions of the colon (anatomy), colon and small intestine, Crohn's disease and ulcerative colitis being the principal types. Crohn's disease affects the small intestine a ...
(Crohn's disease
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, abdominal distension ...
and ulcerative colitis
Ulcerative colitis (UC) is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss, fever, and a ...
), frequent biopsies are taken to assess the activity of disease and to assess changes that precede malignancy.
Biopsy specimens are often taken from part of a lesion
A lesion is any damage or abnormal change in the tissue of an organism, usually caused by disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals.
Types
There is no designated classifi ...
when the cause of a disease is uncertain or its extent or exact character is in doubt. Vasculitis
Vasculitis is a group of disorders that destroy blood vessels by inflammation. Both arteries and veins are affected. Lymphangitis (inflammation of lymphatic vessels) is sometimes considered a type of vasculitis. Vasculitis is primarily caused b ...
, for instance, is usually diagnosed on biopsy.
* Kidney disease: Biopsy and fluorescence microscopy are key in the diagnosis of alterations of renal function. The immunofluorescence plays vital role in the diagnosis of Crescentic glomerulonephritis.
* Infectious disease: Lymph node enlargement may be due to a variety of infectious or autoimmune diseases.
* Metabolic disease: Some conditions affect the whole body, but certain sites are selectively biopsied because they are easily accessed. Amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. These include fatigue, peripheral edema, weight ...
is a condition where degraded proteins accumulate in body tissues. In order to make the diagnosis, the gingival
The gums or gingiva (plural: ''gingivae'') consist of the mucosal tissue that lies over the mandible and maxilla inside the mouth. Gum health and disease can have an effect on general health.
Structure
The gums are part of the soft tissue linin ...
.
* Transplantation: Biopsies of transplanted organs are performed in order to determine that they are not being rejected
''Rejected'' is an animated film directed by Don Hertzfeldt that was released in 2000. It was nominated for an Academy Award for Best Animated Short Film the following year at the 73rd Academy Awards, and received 27 awards from film festivals ...
or that the disease that necessitated transplant has not recurred.
* Fertility: A testicular biopsy is used for evaluating the fertility of men and find out the cause of a possible infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state ...
, e.g. when sperm quality
Semen quality is a measure of male fertility, a measure of the ability of sperm in semen to accomplish fertilization. Semen quality involves both sperm quantity and quality
Cryptorchidism, hypospadias, testicular cancer and poor semen quality ma ...
is low, but hormone levels still are within normal ranges.
Biopsied sites
Analysis of biopsied material
After the biopsy is performed, the sample of tissue that was removed from the patient is sent to the pathology
Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...
laboratory
A laboratory (; ; colloquially lab) is a facility that provides controlled conditions in which scientific or technological research, experiments, and measurement may be performed. Laboratory services are provided in a variety of settings: physicia ...
. A pathologist
Pathology is the study of the causal, causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when us ...
specializes in diagnosing diseases
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that ar ...
(such as cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...
) by examining tissue under a microscope
A microscope () is a laboratory instrument used to examine objects that are too small to be seen by the naked eye. Microscopy is the science of investigating small objects and structures using a microscope. Microscopic means being invisibl ...
. When the laboratory (see Histology
Histology,
also known as microscopic anatomy or microanatomy, is the branch of biology which studies the microscopic anatomy of biological tissues. Histology is the microscopic counterpart to gross anatomy, which looks at larger structures vis ...
) receives the biopsy sample, the tissue is processed and an extremely thin slice of tissue is removed from the sample and attached to a glass slide. Any remaining tissue is saved for use in later studies, if required.
The slide with the tissue attached is treated with dyes that stain the tissue, which allows the individual cell
Cell most often refers to:
* Cell (biology), the functional basic unit of life
Cell may also refer to:
Locations
* Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery ...
s in the tissue to be seen more clearly. The slide is then given to the pathologist, who examines the tissue under a microscope, looking for any abnormal findings. The pathologist then prepares a report that lists any abnormal or important findings from the biopsy. This report is sent to the surgeon
In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as ...
who originally performed the biopsy on the patient.
References
External links
Mybiopsyinfo.com
- What is a biopsy? How is a biopsy examination performed? This website gives you answers to these and many other questions.
- Links to a video. Information about biopsy results for patients. This site is created by pathologists, the physicians who diagnose cancer and other diseases by looking at biopsies under a microscope.
RadiologyInfo
- The radiology information resource for patients: Biopsy
Biopsia de prostata
- Prostate biopsy
{{Authority control
Surgical procedures and techniques
Interventional radiology