Biopsy

Last updated
Biopsy
Brain biopsy under stereotaxy.jpg
Brain biopsy
Specialty surgery
ICD-10-PCS 0?D???X (without force),
0?B???X (with force)
MeSH D001706
OPS-301 code 1-40...1-49 (without incision)
1-50...1-58 (with incision)
MedlinePlus 003416

A biopsy is a medical test commonly performed by a surgeon, an interventional radiologist, or an interventional cardiologist. The process involves the extraction of sample cells or tissues for examination to determine the presence or extent of a disease. The tissue is then fixed, dehydrated, embedded, sectioned, stained and mounted [1] before it is generally examined under a microscope by a pathologist; 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. Biopsies are most commonly performed for insight into possible cancerous or inflammatory conditions.

Contents

History

The Arab physician Abulcasis (1013–1107) developed one of the earliest diagnostic biopsies. He used a needle to puncture a goiter and then characterized the material. [2] [ verification needed ]

Etymology

The term biopsy reflects the Greek words βίος bios, "life," and ὄψις opsis, "a sight." [3]

The French dermatologist Ernest Besnier introduced the word biopsie to the medical community in 1879. [4]

Medical use

Cancer

Lung biopsy in a case of suspected lung cancer under control of computed tomography. Biopsie Lunge Computertomographie BC.png
Lung biopsy in a case of suspected lung cancer under control of computed tomography.

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.[ citation needed ]

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 needles can collect tissue in the lumen (core biopsy). Smaller diameter needles collect cells and cell clusters, fine needle aspiration biopsy. [5]

Pathologic examination of a biopsy can determine whether a lesion is benign or malignant, 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 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. [6] These methods provide a non-invasive alternative to repeat invasive biopsies to monitor cancer treatment, [7] test available drugs against the circulating tumor cells, [8] 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. [9] In addition, excisional biopsies are invasive, cannot be used repeatedly, and are ineffective in understanding the dynamics of tumor progression and metastasis. [10] [11] By detecting, quantifying and characterisation 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. [12] This technological development could make it possible to diagnose and manage cancer from repeated blood tests rather than from a traditional biopsy. [12] [13] [14] [15]

Circulating tumor cell tests are already available but not covered by insurance yet at maintrac and under development by many pharmaceutical companies. Those tests analyze circulating tumor cells (CTCs) [13] [16] Analysis of individual CTCs demonstrated a high level of heterogeneity seen at the single cell level [17] for both protein expression and protein localization and the CTCs reflected both the primary biopsy and the changes seen in the metastatic sites.[ citation needed ]

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. [6] 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. [9] 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. [18]

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. [19]

Such tests may also be useful to assess whether malignant cells remain in patients whose tumors have been surgically removed. [20] Up to 30 percent are expected to relapse because some tumor cells remain. [21] Initial studies identified about half the patients who later relapsed, again without false positives. [19]

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 tumors. [19]

Precancerous conditions

For easily detected and accessed sites, any suspicious lesions may be assessed. Originally, this was skin or superficial masses. X-ray, then later CT, MRI, and ultrasound along with endoscopy extended the range.[ citation needed ]

Inflammatory conditions

A biopsy of the temporal arteries is often performed for suspected vasculitis. In inflammatory bowel disease (Crohn's disease and ulcerative colitis), frequent biopsies are taken to assess the activity of the disease and to assess changes that precede malignancy. [22]

Biopsy specimens are often taken from part of a lesion when the cause of a disease is uncertain or its extent or exact character is in doubt. Vasculitis, for instance, is usually diagnosed on biopsy.

Biopsied sites

Bone A bone biopsy is a procedure in which bone samples are removed to find out if cancer or infection or other abnormal cells are present. A bone biopsy involves the outer layers of bone, unlike a bone marrow biopsy, which involves the innermost part of the bone. Bone biopsy should as rule be done after all necessary imagings performed. Jamshidi needle has replaced the open-biopsy and fine-needle aspiration
Bone marrow Since blood cells form in the bone marrow, a bone-marrow biopsy is employed in the diagnosis of abnormalities of blood cells when the diagnosis cannot be made from the peripheral blood alone. In malignancies of blood cells (leukemia and lymphoma) a bone-marrow biopsy is used in staging the disease. The procedure involves taking a core of trabecular bone using a trephine, and then aspirating material.
Breast Breast biopsy is often performed to assess or diagnose breast cancer, and can be performed by various methods such as fine needle aspirate (FNA), core needle biopsy (CNB), or surgical removal. [24]
Endovascular endothelial cellsA micro-3D-printed device adapted for endovascular techniques has been shown to harvest endothelial cells for transcriptomic analysis. [25]
Gastrointestinal tract Flexible endoscopy enables access to the upper and lower gastrointestinal tract, such that biopsy of the esophagus, stomach and duodenum via the mouth and the rectum, colon and terminal ileum are commonplace. A variety of biopsy instruments, such as the bioptome, may be introduced through the endoscope and the visualized site biopsied. [26] Until recently, the majority of the small intestine could not be visualized for biopsy. The double-balloon "push-pull" technique allows visualization and biopsy of the entire gastrointestinal tract. [27]

Needle core biopsies or aspirates of the pancreas may be made through the duodenum or stomach. [28]

Lung Biopsies of the lung can be performed in a variety of ways depending on the location.
Liver In hepatitis, most biopsies are not used for diagnosis, which generally occurs by other means. Rather, it is used to determine response to therapy which can be assessed by reduction of inflammation and progression of disease by the degree of fibrosis or, ultimately, cirrhosis.

In the case of Wilson's disease, clinicians use biopsies to determine the quantitative copper level.

Pancreatic cystsEndoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) of cystic lesions, followed by liquid cell analysis, has been used as a diagnostic tool for differentiating benign, potentially malignant, and malignant pancreatic cysts. [29] [30] 'Through-the-needle' cytologic brushes have been developed for increasing the cellular content in the aspirates. [31] [32] [33] [34]
Prostate Forms of prostate biopsy include transrectal biopsy, transperineal biopsy and transurethral biopsy
Nervous system Forms include brain biopsy, nerve biopsy, and meningeal biopsy
Urogenital system Forms include renal biopsy, endometrial biopsy and cervical conization
OtherOther sites include lymph node biopsy, muscle biopsy, and skin biopsy

Analysis of biopsied material

After the biopsy is performed, the sample of tissue that was removed from the patient is sent to the pathology laboratory. A pathologist specializes in diagnosing diseases (such as cancer) by examining tissue under a microscope. When the laboratory (see Histology) 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.[ citation needed ]

The slide with the tissue attached is treated with dyes that stain the tissue, which allows the individual cells 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 who originally performed the biopsy on the patient.[ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Pathology</span> Study of the causes and effects of disease or injury, and how they arise

Pathology is the study of disease and 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 the context of modern medical treatment, the term is often used in a narrower fashion to refer to processes and tests that fall within the contemporary medical field of "general pathology", an area that includes a number of distinct but inter-related medical specialties that diagnose disease, mostly through analysis of tissue and human cell samples. Idiomatically, "a pathology" may also refer to the predicted or actual progression of particular diseases, and the affix pathy is sometimes used to indicate a state of disease in cases of both physical ailment and psychological conditions. A physician practicing pathology is called a pathologist.

<span class="mw-page-title-main">Cytopathology</span> A branch of pathology that studies and diagnoses diseases on the cellular level

Cytopathology is a branch of pathology that studies and diagnoses diseases on the cellular level. The discipline was founded by George Nicolas Papanicolaou in 1928. Cytopathology is generally used on samples of free cells or tissue fragments, in contrast to histopathology, which studies whole tissues. Cytopathology is frequently, less precisely, called "cytology", which means "the study of cells".

<span class="mw-page-title-main">Malignancy</span> Tendency of a medical condition to become progressively worse

Malignancy is the tendency of a medical condition to become progressively worse; the term is most familiar as a characterization of cancer.

<span class="mw-page-title-main">Melanoma</span> Skin cancer originating in melanocytes

Melanoma is the most dangerous type of skin cancer; it develops from the melanin-producing cells known as melanocytes. It typically occurs in the skin, but may rarely occur in the mouth, intestines, or eye. In women, melanomas most commonly occur on the legs; while in men, on the back. Melanoma is frequently referred to as malignant melanoma. However, the medical community stresses that there is no such thing as a 'benign melanoma' and recommends that the term 'malignant melanoma' should be avoided as redundant.

<span class="mw-page-title-main">Thymoma</span> Medical condition

A thymoma is a tumor originating from the epithelial cells of the thymus that is considered a rare malignancy. Thymomas are frequently associated with neuromuscular disorders such as myasthenia gravis; thymoma is found in 20% of patients with myasthenia gravis. Once diagnosed, thymomas may be removed surgically. In the rare case of a malignant tumor, chemotherapy may be used.

<span class="mw-page-title-main">Head and neck cancer</span> Cancer arises in the head or neck region

Head and neck cancer is a general term encompassing multiple cancers that can develop in the head and neck region. These include cancers of the mouth, tongue, gums and lips, voice box (laryngeal), throat, salivary glands, nose and sinuses. Head and neck cancer can present a wide range of symptoms depending on where the cancer developed. These can include an ulcer in the mouth that does not heal, changes in the voice, difficulty swallowing, red or white patches in the mouth, and a neck lump.

<span class="mw-page-title-main">Fine-needle aspiration</span> Diagnostic medical procedure

Fine-needle aspiration (FNA) is a diagnostic procedure used to investigate lumps or masses. In this technique, a thin, hollow needle is inserted into the mass for sampling of cells that, after being stained, are examined under a microscope (biopsy). The sampling and biopsy considered together are called fine-needle aspiration biopsy (FNAB) or fine-needle aspiration cytology (FNAC). Fine-needle aspiration biopsies are very safe minor surgical procedures. Often, a major surgical biopsy can be avoided by performing a needle aspiration biopsy instead, eliminating the need for hospitalization. In 1981, the first fine-needle aspiration biopsy in the United States was done at Maimonides Medical Center. Today, this procedure is widely used in the diagnosis of cancer and inflammatory conditions. Fine needle aspiration is generally considered a safe procedure. Complications are infrequent.

<span class="mw-page-title-main">Invasive carcinoma of no special type</span> Medical condition

Invasive carcinoma of no special type, invasive breast carcinoma of no special type (IBC-NST), invasive ductal carcinoma (IDC), infiltrating ductal carcinoma (IDC) or invasive ductal carcinoma, not otherwise specified (NOS) is a disease. For international audiences this article will use "invasive carcinoma NST" because it is the preferred term of the World Health Organization (WHO).

<span class="mw-page-title-main">Phyllodes tumor</span> Medical condition

Phyllodes tumors, are a rare type of biphasic fibroepithelial mass that form from the periductal stromal and epithelial cells of the breast. They account for less than 1% of all breast neoplasms. They were previously termed cystosarcoma phyllodes, coined by Johannes Müller in 1838, before being renamed to phyllodes tumor by the World Health Organization in 2003. Phullon, which means 'leaf' in Greek, describes the unique papillary projections characteristic of phyllodes tumors on histology. Diagnosis is made via a core-needle biopsy and treatment is typically surgical resection with wide margins (>1 cm), due to their propensity to recur.

<span class="mw-page-title-main">Cervical intraepithelial neoplasia</span> Medical condition

Cervical intraepithelial neoplasia (CIN), also known as cervical dysplasia, is the abnormal growth of cells on the surface of the cervix that could potentially lead to cervical cancer. More specifically, CIN refers to the potentially precancerous transformation of cells of the cervix.

<span class="mw-page-title-main">Anaplastic thyroid cancer</span> Medical condition

Anaplastic thyroid cancer (ATC), also known as anaplastic thyroid carcinoma, is an aggressive form of thyroid cancer characterized by uncontrolled growth of cells in the thyroid gland. This form of cancer generally carries a very poor prognosis due to its aggressive behavior and resistance to cancer treatments. The cells of anaplastic thyroid cancer are highly abnormal and usually no longer resemble the original thyroid cells and have poor differentiation.

<span class="mw-page-title-main">Surgical pathology</span> Area of practice for anatomical pathologists

Surgical pathology is the most significant and time-consuming area of practice for most anatomical pathologists. Surgical pathology involves gross and microscopic examination of surgical specimens, as well as biopsies submitted by surgeons and non-surgeons such as general internists, medical subspecialists, dermatologists, and interventional radiologists.

<span class="mw-page-title-main">Skin biopsy</span> Removal of skin cells for medical examination

Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 days. It is commonly performed by dermatologists. Skin biopsies are also done by family physicians, internists, surgeons, and other specialties. However, performed incorrectly, and without appropriate clinical information, a pathologist's interpretation of a skin biopsy can be severely limited, and therefore doctors and patients may forgo traditional biopsy techniques and instead choose Mohs surgery.

<span class="mw-page-title-main">Circulating tumor cell</span> Cell from a primary tumor carried by blood circulation

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 tumors (metastases) in distant organs, a mechanism that is responsible for the vast majority of cancer-related deaths. The detection and analysis of CTCs can assist early patient prognoses and determine appropriate tailored treatments. Currently, there is one FDA-approved method for CTC detection, CellSearch, which is used to diagnose breast, colorectal and prostate cancer.

<span class="mw-page-title-main">Oncology</span> Branch of medicine dealing with, or specializing in, cancer

Oncology is a branch of medicine that deals with the study, treatment, diagnosis, and prevention of cancer. A medical professional who practices oncology is an oncologist. The name's etymological origin is the Greek word ὄγκος (ónkos), meaning "tumor", "volume" or "mass". Oncology is concerned with:

<span class="mw-page-title-main">Sebaceous carcinoma</span> Medical condition

Sebaceous carcinoma, also known as sebaceous gland carcinoma (SGc), sebaceous cell carcinoma, and meibomian gland carcinoma is an uncommon malignant cutaneous tumor. Most are typically about 1.4 cm at presentation. SGc originates from sebaceous glands in the skin and, therefore, may originate anywhere in the body where these glands are found. SGc can be divided into 2 types: periocular and extraocular. The periocular region is rich in sebaceous glands making it a common site of origin. The cause of these lesions in the vast majority of cases is unknown. Occasional cases may be associated with Muir-Torre syndrome. SGc accounts for approximately 0.7% of all skin cancers, and the incidence of SGc is highest in Caucasian, Asian, and Indian populations. Due to the rarity of this tumor and variability in clinical and histological presentation, SGc is often misdiagnosed as an inflammatory condition or a more common neoplasm. SGc is commonly treated with wide local excision or Mohs micrographic surgery, and the relative survival rates at 5 and 10 years are 92.72 and 86.98%, respectively.

<span class="mw-page-title-main">Breast biopsy</span> Surgical diagnostic procedure for breast tumours

A breast biopsy is usually done after a suspicious lesion is discovered on either mammography or ultrasound to get tissue for pathological diagnosis. Several methods for a breast biopsy now exist. The most appropriate method of biopsy for a patient depends upon a variety of factors, including the size, location, appearance and characteristics of the abnormality. The different types of breast biopsies include fine-needle aspiration (FNA), vacuum-assisted biopsy, core needle biopsy, and surgical excision biopsy. Breast biopsies can be done utilizing ultrasound, MRI or a stereotactic biopsy imaging guidance. Vacuum assisted biopsies are typically done using stereotactic techniques when the suspicious lesion can only be seen on mammography. On average, 5–10 biopsies of a suspicious breast lesion will lead to the diagnosis of one case of breast cancer. Needle biopsies have largely replaced open surgical biopsies in the initial assessment of imaging as well as palpable abnormalities in the breast.

A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy, this type of technique is mainly used as a diagnostic and monitoring tool for diseases such as cancer, with the added benefit of being largely non-invasive. Liquid biopsies may also be used to validate the efficiency of a cancer treatment drug by taking multiple samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse.

CAPP-Seq is a next-generation sequencing based method used to quantify circulating DNA in cancer (ctDNA). The method was introduced in 2014 by Ash Alizadeh and Maximilian Diehn’s laboratories at Stanford, as a tool for measuring Cell-free tumor DNA which is released from dead tumor cells into the blood and thus may reflect the entire tumor genome. This method can be generalized for any cancer type that is known to have recurrent mutations. CAPP-Seq can detect one molecule of mutant DNA in 10,000 molecules of healthy DNA. The original method was further refined in 2016 for ultra sensitive detection through integration of multiple error suppression strategies, termed integrated Digital Error Suppression (iDES). The use of ctDNA in this technique should not be confused with circulating tumor cells (CTCs); these are two different entities.

Urinary cell-free DNA (ucfDNA) refers to DNA fragments in urine released by urogenital and non-urogenital cells. Shed cells on urogenital tract release high- or low-molecular-weight DNA fragments via apoptosis and necrosis, while circulating cell-free DNA (cfDNA) that passes through glomerular pores contributes to low-molecular-weight DNA. Most of the ucfDNA is low-molecular-weight DNA in the size of 150-250 base pairs. The detection of ucfDNA composition allows the quantification of cfDNA, circulating tumour DNA, and cell-free fetal DNA components. Many commercial kits and devices have been developed for ucfDNA isolation, quantification, and quality assessment.

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  29. ↑ Jabbar, Karolina S.; Arike, Liisa; Verbeke, Caroline S.; Sadik, Riadh; Hansson, Gunnar C. (2018-02-01). "Highly Accurate Identification of Cystic Precursor Lesions of Pancreatic Cancer Through Targeted Mass Spectrometry: A Phase IIc Diagnostic Study". Journal of Clinical Oncology. 36 (4). American Society of Clinical Oncology (ASCO): 367–375. doi:10.1200/jco.2017.73.7288. ISSN   0732-183X. PMC   5805478 . PMID   29166170.
  30. ↑ Skef, Wasseem; McGrath, Kevin (2019). "Pancreatic cyst through-the-needle biopsy: two's the charm". Gastrointestinal Endoscopy. 90 (6). Elsevier BV: 944–946. doi: 10.1016/j.gie.2019.08.024 . ISSN   0016-5107. PMID   31759419.
  31. ↑ Marques, Filipe; Baldaque-Silva, Francisco; van der Wijngaart, Wouter; Arnelo, Urban; Roxhed, Niclas (2020-12-25). "A loop-shaped minimally invasive brush for improved cytology sampling of pancreatic cysts during EUS-FNA". Medical Devices & Sensors. 4. Wiley. doi: 10.1002/mds3.10165 . ISSN   2573-802X.
  32. ↑ Marques, F., Schliemann, I., Wijngaart, W. van der, Arnelo, U., Roxhed, N., Baldaque-Silva, F. (2023), "New through-the-needle brush for pancreatic cysts assessment: a randomized control trial", Igie, Elsevier BV, doi: 10.1016/j.igie.2023.08.006 , S2CID   261406528
  33. ↑ Muniraj, Thiruvengadam; Aslanian, Harry R. (2018). "Devices for endoscopic ultrasound-guided tissue acquisition". Techniques in Gastrointestinal Endoscopy. 20 (1). Elsevier BV: 2–9. doi:10.1016/j.tgie.2018.01.003. ISSN   1096-2883.
  34. ↑ Marques F, van der Wijngaart W, Roxhed N (2023). "Absorbable cyst brushes". Biomed Microdevices. 25 (3): 33. doi:10.1007/s10544-023-00674-y. PMC   10447279 . PMID   37610663.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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