Biopsy#Gastrointestinal tract

The Arab physician Abulcasis (1013–1107) developed one of the earliest diagnostic biopsies. He used a needle to puncture the thyroid and then characterized many types of goiter.{{cite journal|vauthors=Anderson JB, Webb AJ|year=1987|title=Fine-needle aspiration biopsy and the diagnosis of thyroid cancer|journal=The British Journal of Surgery|volume=74|issue=4|pages=292–296|doi=10.1002/bjs.1800740422|pmid=3580805|s2cid=45618809}}Anderson & Webb (1987) cite Abulcasim Chalaf Ben Abbas El-Zahrawi. Altasrif Vol 30. Translated by Geradus Cremonensis in the 12th century. Bibliotheque Nationale, f. lat 2127.

The term biopsy reflects the Greek words {{wikt-lang|grc|βίος}} {{transliteration|grc|bios}}, "life," and {{wikt-lang|grc|ὄψις}} {{transliteration|grc|opsis}}, "a sight."[http://www.etymonline.com/index.php?term=biopsy "biopsy"] {{Webarchive|url=https://web.archive.org/web/20161229143610/http://www.etymonline.com/index.php?term=biopsy |date=2016-12-29 }}. Online Etymology Dictionary.

The French dermatologist Ernest Besnier introduced the word {{lang|fr|biopsie}} to the medical community in 1879.{{cite journal|author=Zerbino DD|year=1994|title=Biopsy: Its history, current and future outlook|journal=Likars'ka Sprava / Ministerstvo Okhorony Zdorov'ia Ukrainy|issue=3–4|pages=1–9|pmid=7975522}}

File:Biopsie Lunge Computertomographie BC.png.]]

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|date=February 2022}}

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.Sausville, Edward A. and Longo, Dan L. "Principles of Cancer Treatment: Surgery, Chemotherapy, and Biologic Therapy", Harrison's Principles of Internal Medicine, 16th Ed. Kaspar, Dennis L. et al., eds. p.446 (2005).

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").

{{main|Circulating tumor cell}}

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.{{cite journal |title=Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer |vauthors=Dawson SJ, Tsui DW, Murtaza M, Biggs H, Rueda OM, Chin SF, Dunning MJ, Gale D, Forshew T, Mahler-Araujo B, Rajan S, Humphray S, Becq J, Halsall, Wallis M, Bentley D, Caldas C, Rosenfeld N |s2cid=12659213 |journal=The New England Journal of Medicine |year=2013 |volume=368 |issue=13 |pages=1199–1209 |doi=10.1056/NEJMoa1213261 |pmid=23484797|doi-access=free }} These methods provide a non-invasive alternative to repeat invasive biopsies to monitor cancer treatment,{{Cite journal|last1=Pachmann|first1=Katharina|last2=Camara|first2=Oumar|last3=Kohlhase|first3=Annika|last4=Rabenstein|first4=Carola|last5=Kroll|first5=Torsten|last6=Runnebaum|first6=Ingo B.|last7=Hoeffken|first7=Klaus|date=2010-08-08|title=Assessing the efficacy of targeted therapy using circulating epithelial tumor cells (CETC): the example of SERM therapy monitoring as a unique tool to individualize therapy|journal=Journal of Cancer Research and Clinical Oncology|volume=137|issue=5|pages=821–828|doi=10.1007/s00432-010-0942-4|pmid=20694797|pmc=3074080|issn=0171-5216}} test available drugs against the circulating tumor cells,{{Cite journal|last1=Pachmann|first1=K.|last2=Stein|first2=E.|last3=Spitz|first3=G.|last4=Schill|first4=E.|last5=Pachmann|first5=U.|date=2009-12-15|title=Chemosensitivity Testing of Circulating Epithelial Cells (CETC) in Breast Cancer Patients and Correlation to Clinical Outcome.|journal=Poster Session Abstracts|volume=69 |issue=24_Supplement |pages=2044|publisher=American Association for Cancer Research|doi=10.1158/0008-5472.sabcs-09-2044}} 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.{{cite journal |title=Genomic Analysis of Plasma Cell-Free DNA in Patients With Cancer |vauthors=Oxnard GR, Paweletz CP, Sholl LM |journal=JAMA Oncology |volume=3 |issue=6 |pages=740–741 |doi=10.1001/jamaoncol.2016.2835 |pmid=27541382 |date=October 7, 2016 |s2cid=205128210 |url=http://nrs.harvard.edu/urn-3:HUL.InstRepos:32705580 |url-access=subscription }} In addition, excisional biopsies are invasive, cannot be used repeatedly, and are ineffective in understanding the dynamics of tumor progression and metastasis.{{cite journal |vauthors=Marrinucci D, Bethel K, Luttgen M, Bruce RH, Nieva J, Kuhn P | title = Circulating tumor cells from well-differentiated lung adenocarcinoma retain cytomorphologic features of primary tumor type | journal = Archives of Pathology & Laboratory Medicine | volume = 133 | issue = 9 | pages = 1468–71 | date = Sep 2009 | pmc = 4422331 |pmid = 19722757 | doi = 10.5858/133.9.1468 }}{{cite journal |title=Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types |vauthors=Lebofsky R, Decraene C, Bernard V, Kamal M, Blin A, Leroy Q, Rio Frio T, Pierron G, Callens C, Bieche I, Saliou A, Madic J, Rouleau E, Bidard FC, Lantz O, Stern MH, Le Tourneau C, Pierga JY |journal=Molecular Oncology |date=Apr 2015 |pages=783–90 |doi=10.1016/j.molonc.2014.12.003 |pmid=25579085 |pmc=5528781 |volume=9|issue=4 }} 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.{{cite journal |vauthors=Nieva JJ, Kuhn P | title = Fluid biopsy for solid tumors: a patient's companion for lifelong characterization of their disease | journal = Future Oncology | volume = 8 | issue = 8 | pages = 989–998 | date = Aug 8, 2012 | pmid = 22894671 | pmc = 3658625 | doi = 10.2217/fon.12.91 }} This technological development could make it possible to diagnose and manage cancer from repeated blood tests rather than from a traditional biopsy.{{cite journal |vauthors=Hekimian K, Meisezahl S, Trompelt K, Rabenstein C, Pachmann K | title = Epithelial Cell Dissemination and Readhesion: Analysis of Factors Contributing to Metastasis Formation in Breast Cancer | journal = ISRN Oncology | volume = 2012 | pages = 601810 | date = 2012 | pmid = 22530147 | pmc = 3317055 | doi = 10.5402/2012/601810 | doi-access = free }}{{cite journal |vauthors=Rolle A, Günzel R, Pachmann U, Willen B, Höffken K, Pachmann K | title = Increase in number of circulating disseminated epithelial cells after surgery for non-small cell lung cancer monitored by MAINTRAC(R) is a predictor for relapse: A preliminary report | journal = World J Surg Oncol | volume = 3 | issue = 1 | pages = 18 | year = 2005 | pmid = 15801980 | pmc = 1087511 | doi = 10.1186/1477-7819-3-18 | doi-access = free }}

Circulating tumor cell tests are already available but not covered by insurance yet at [https://www.maintrac.com maintrac] and under development by many pharmaceutical companies. Those tests analyze circulating tumor cells (CTCs){{cite journal |vauthors=Nieva J, Wendel M, Luttgen MS, Marrinucci D, Bazhenova L, Kolatkar A, Santala R, Whittenberger B, Burke J, Torrey M, Bethel K, Kuhn P | title = High-definition imaging of circulating tumor cells and associated cellular events in non-small cell lung cancer patients: a longitudinal analysis | journal = Physical Biology | volume = 9 | issue = 1 | pages = 016004 | date = Feb 2012 | pmid = 22306961 | pmc = 3388002 | doi = 10.1088/1478-3975/9/1/016004 | bibcode = 2012PhBio...9a6004N }}{{cite journal|author4-link=Alberto Bardelli |vauthors=Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A | s2cid = 25537784 | title = Liquid biopsy: monitoring cancer-genetics in the blood | journal = Nature Reviews Clinical Oncology | volume = 10 | issue = 8 | pages = 472–484 | date = Aug 2013 | pmid = 23836314 | doi = 10.1038/nrclinonc.2013.110 }} Analysis of individual CTCs demonstrated a high level of heterogeneity seen at the single cell level{{Cite journal|last1=Carl|first1=S|last2=Camara|first2=O|last3=Plaschke-Schluetter|first3=A|last4=Kroll|first4=T|last5=Pachmann|first5=K.|date=2010-12-15|title=Abstract P3-10-37: Molecular Analysis of Single Circulating Tumor Cells for Characterization of the Targets of Systemic Breast Cancer Therapy as Chance to Individualize Therapy|journal=Poster Session Abstracts|volume=70|issue=24_Supplement|pages=P3–10–37|publisher=American Association for Cancer Research|doi=10.1158/0008-5472.sabcs10-p3-10-37}} 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|date=February 2022}}

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. 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.{{cite journal |title=Tracking Tumor Resistance: The Early Promise of "Liquid" Cancer Tests |journal=Journal of the National Cancer Institute |date=Sep 2016 |volume=108 |issue=9 |page= djw220|doi=10.1093/jnci/djw220 |pmid=27628661 |last1=Jenks |first1=Susan |doi-access=free }}

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.{{Cite web|url=https://www.technologyreview.com/s/529911/spotting-cancer-in-a-vial-of-blood/|title=Spotting Cancer in a Vial of Blood|last=Regalado|first=Antonio|date=August 11, 2014|website=MIT Technology Review|access-date=2016-04-23|archive-date=2020-03-26|archive-url=https://web.archive.org/web/20200326074728/https://www.technologyreview.com/s/529911/spotting-cancer-in-a-vial-of-blood/|url-status=live}}

Such tests may also be useful to assess whether malignant cells remain in patients whose tumors have been surgically removed.{{Cite journal|last1=Pachmann|first1=Katharina|last2=Dengler|first2=Robert|last3=Lobodasch|first3=Kurt|last4=Fröhlich|first4=Frank|last5=Kroll|first5=Torsten|last6=Rengsberger|first6=Matthias|last7=Schubert|first7=Rene|last8=Pachmann|first8=Ulrich|s2cid=19839081|date=2007-07-05|title=An increase in cell number at completion of therapy may develop as an indicator of early relapse|journal=Journal of Cancer Research and Clinical Oncology|volume=134|issue=1|pages=59–65|doi=10.1007/s00432-007-0248-3|pmid=17611779|issn=0171-5216}} Up to 30 percent are expected to relapse because some tumor cells remain.{{Cite journal|last1=Pachmann|first1=Katharina|last2=Camara|first2=Oumar|last3=Kavallaris|first3=Andreas|last4=Krauspe|first4=Sabine|last5=Malarski|first5=Nele|last6=Gajda|first6=Mieczyslaw|last7=Kroll|first7=Torsten|last8=Jörke|first8=Cornelia|last9=Hammer|first9=Ulrike|s2cid=20074388|date=2008-03-10|title=Monitoring the Response of Circulating Epithelial Tumor Cells to Adjuvant Chemotherapy in Breast Cancer Allows Detection of Patients at Risk of Early Relapse|journal=Journal of Clinical Oncology|volume=26|issue=8|pages=1208–1215|doi=10.1200/jco.2007.13.6523|pmid=18323545|issn=0732-183X}} 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 tumors.

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|date=February 2022}}

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.Friedman, S. and Blumberg, R.S. "Inflammatory Bowel Disease", Harrison's Principles of Internal Medicine, 16th Ed. Kaspar, Dennis L. et al., eds. pp.1176-1789, 2005.

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.

• Kidney disease: Biopsy and fluorescence microscopy are key in the diagnosis of alterations of renal function. 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 is a condition where degraded proteins accumulate in body tissues. To make the diagnosis, the gingival.
• Transplantation: Biopsies of transplanted organs are performed in order to determine that they are not being rejected or that the disease that necessitated the 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, e.g. when sperm quality is low, but hormone levels still are within normal ranges.{{Cite web|url=https://www.webmd.com/cancer/what-is-orchiectomy|title=Orchiectomy: Surgery to Remove the Testicles|first=Mary Jo|last=DiLonardo|website=WebMD|access-date=2022-02-11|archive-date=2008-10-12|archive-url=https://web.archive.org/web/20081012121535/http://men.webmd.com/Men-Medical-Reference/Testicular-Biopsy|url-status=live}}{{failed verification|date=January 2020}}

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|date=February 2022}}

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|date=February 2022}}

{{Reflist|35em}}

{{commons}}

{{wikt|biopsy}}

• [https://web.archive.org/web/20081220030025/http://www.mybiopsyinfo.com/ Mybiopsyinfo.com] - What is a biopsy? How is a biopsy examination performed? This website gives you answers to these and many other questions.
• [http://www.cap.org/apps/docs/reference/myBiopsy/index2.html MyBiopsy.org] {{Webarchive|url=https://web.archive.org/web/20180925170849/http://www.cap.org/apps/docs/reference/myBiopsy/index2.html |date=2018-09-25 }} - 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.
• [http://radiologyinfo.org/en/sitemap/modal-alias.cfm?modal=biop RadiologyInfo] - The radiology information resource for patients: Biopsy
• [https://drbetianu.ro/biopsia-de-prostata-ghidata-imagistic/ Biopsia de prostata] - Prostate biopsy

{{Authority control}}

Category:Surgical procedures and techniques

Category:Interventional radiology