Diagnostic Anatomic Pathology in the Era of Molecular Medicine (2024)

Much has changed in the world of diagnostic anatomic pathology and much has not

Diagnostic anatomic pathology as a specialty in medicine encompasses the practice of general surgical pathology, cytopathology, and autopsy pathology. Additionally, there are now anatomic pathologists who practice part-time or full-time in these subspecialty areas: hematopathology (hematology), dermatopathology, molecular genetic pathology, pediatric pathology, neuropathology, forensic pathology, bone/soft tissue pathology, breast pathology, liver and gastrointestinal pathology, lung pathology, transplant pathology, gynecologic pathology, head and neck pathology, genitourinary pathology, renal pathology, ophthalmic pathology, and more! Board certification exists for the first six of these subspecialty areas as well as for anatomic pathology and cytopathology

What has not changed is the foundation for diagnosis in anatomic pathology. This foundation has historically been gross (macroscopic) examination of tissues and light microscopic examination of hematoxylin and eosin-stained tissue sections and cells, such as those procured from biopsies and surgical resections. These approaches continue to dominate the diagnostic anatomic pathology world and possess so much power that they will likely continue to used as diagnostic tools well into the future.1

What has changed in this era of molecular medicine is that the pathologist’s diagnostic tool box has expanded to include techniques that allow for diagnostic characterization of disease processes at the molecular level. The targeted identification of specific molecules for diagnosis actually began in the 1980s with the advent of diagnostic immunohistochemistry. This technique makes it possible to simultaneously visualize cell type and differentiation markers in standard tissue sections by light microscopy and has revolutionized diagnostic surgical pathology. It is extremely valuable in diagnostic typing of cancers, even in small needle core biopsies and can help, in selected cases, confirm a histological diagnosis of malignancy in needle core tissue, such as in the case of small prostate cancers (see the article Prostate Cancer Diagnosis in this issue). Molecular genetic pathology diagnostic tools were initially applicable only to fresh or frozen cells and tissues but now can be routinely used in formalin-fixed, paraffin-embedded tissues, which is the common state of biopsy and resection tissues available for analysis. These molecular pathology diagnostic tools are discussed in-depth in Dr. John Pfeifer’s article in this issue. Molecular genetic pathology diagnostics have had a major impact on the diagnosis of many cancers, particularly leukemias and lymphomas and some soft tissue sarcomas. For example, the World Health Organization classification of many leukemias and lymphomas is based on a combination of light microscopic features (morphology), immunophenotype, and molecular genetics

Yet, for many non-neoplastic diseases and most solid tumors, light microscopy is still the gold-standard. This is evident in the articles in this issue on prostate cancer diagnosis, biopsy diagnosis of hepatitis, and melanoma diagnosis. In the future, molecular pathology diagnostics will become increasingly useful in difficult diagnostic cases, in risk stratification of patients, and in prediction of response to specific therapies

In this issue of Missouri Medicine, the Division of Anatomic and Molecular Pathology in the Department of Pathology and Immunology at Washington University School of Medicine presents five articles covering a range of diagnostic issues addressing important diseases (melanoma, prostate cancer, hepatitis) and diagnostic tools (the autopsy, molecular genetics)

In the article entitled, “Melanoma: From Patient Presentation to Pathology Report,” Drs. Omar Jassim and Anne Lind provide a combined dermatology-dermatopathology roadmap for diagnosis of melanoma from clinical presentation to histopathologic diagnosis. Similarly, in the next article, “Prostate Cancer Diagnosis,” by Drs. Peter Humphrey and Gerald Andriole, the clinical and histological diagnoses of prostate cancer, with outcome implications, are presented from a combined urology-urologic pathology standpoint. In the article on “Biopsy Diagnosis of Hepatitis,” Dr. Elizabeth Brunt focuses her attention on the importance and role of the liver biopsy in the diagnosis of patients with hepatitis. The next article by Dr. Louis Dehner, “The Medical Autopsy: Past, Present and Dubious Future,” speaks to the history of the autopsy and its current relevance. The final article by Dr. John Pfeifer, “Molecular Pathology and Patient Care,” highlights the everyday value of molecular pathology in the diagnosis and hence care of patients

In these articles one can gain a current perspective on use of time-tested diagnostic tools that are still the cornerstones of modern diagnostic pathology as well as how molecular pathology is playing an increasingly important role in this era of molecular medicine

Acknowledgment

Special thanks to Dr. John Pfeifer for his skill in helping edit these articles

Biography

Peter A. Humphrey, MD, PhD, MSMA member since 2008, is Ladenson Professor and Chief of Anatomic and Molecular Pathology at Washington University School of Medicine in St. Louis.

Contact: ude.ltsuw.htap@yerhpmuh

Diagnostic Anatomic Pathology in the Era of Molecular Medicine (1)

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References

1. Rosai J. Why microscopy will remain a cornerstone of surgical pathology. Lab Invest. 2007;87:403–408. [PubMed] [Google Scholar]

Diagnostic Anatomic Pathology in the Era of Molecular Medicine (2024)

FAQs

What is anatomic and molecular pathology? ›

It is the study of the structural, biochemical, and functional changes in cells, tissues, and organs that underlie disease. It is divided into two broad categories: Anatomic and Clinical Pathology.

What is the anatomical pathology diagnosis? ›

Anatomical pathology is the processing, examination, and diagnosis of surgical specimens in hospital and public mortuaries. In the NHS, the healthcare science staff who work in hospital mortuaries are called anatomical pathology technologists (APTs). Outside the NHS, they also work in local authority public mortuaries.

What is the role of the pathologist in the next generation era of tumor molecular characterization? ›

In the “next-generation sequencing era” the pathologist has become the clinician responsible for the integration and interpretation of morphologic and molecular information and for the delivery of critical answers to diagnostic, prognostic and predictive queries, acquiring a prominent position in the personalized ...

What is an example of anatomic pathology? ›

This is the analysis of cells that are shed from body surfaces. The cervical (Pap) smear is the most common example, but samples from the urinary bladder, abdominal cavity, chest cavity, cerebrospinal fluid, and washings from the lung are also frequently examined.

What is the difference between pathology and molecular pathology? ›

Molecular pathology is an evolving yet complex subtype of pathology that uses quantitative assays to examine molecules within tissues, bodily fluids, and organs. These targets can include DNA, RNA, proteins, epigenetic tags, and more.

What are the molecular diagnostic techniques in pathology? ›

Molecular diagnostics, also called molecular pathology, involves taking DNA or RNA, the unique genetic code found in our cells, and analyzing the sequences for red flags that can pinpoint the potential emergence of a specific disease. The field has expanded rapidly in recent years.

What tests are done in anatomic pathology? ›

Whereas laboratory scientists typically analyze blood or other fluids from patients, anatomic pathologists evaluate tissue specimens, which include cervical scrapings (i.e., PAP smears), biopsies, surgical resections, and whole-body evaluations at autopsy.

What is important in anatomical pathology? ›

Anatomical pathology is the scientific foundation of all medicine. It can answer important research questions, and an anatomical pathologist could be considered the doctor's doctor, regularly liaising with many other specialists.

What does diagnostic pathology include? ›

Diagnostic pathology identifies the cause of disease based on morphologic and/or clinical pathology findings, as well as history, clinical signs, and ancillary test results. It is important in all areas of pathology, both in spontaneous and in experimentally-induced disease.

What is the purpose of molecular pathology? ›

Molecular pathology can be used to diagnose disease and/or to guide the prevention and treatment of disease. As an example of the former, infections by certain viruses (e.g. cytomegalovirus and Epstein-Barr virus) can be diagnosed by molecular testing for the presence of their specific RNAs in blood.

What is the application of molecular diagnostics in oncology? ›

Molecular diagnostics can be used to determine whether a person is at risk for a certain type of cancer. When used this way, the tests may also be referred to as molecular profiling or molecular risk assessment.

What is the role of molecular markers in disease diagnosis? ›

A molecular marker (biomarker) is defined as a biological molecule which can be termed as measurable indicator found in blood, and other body fluids, or tissues by which a particular pathological or physiological process, or of a condition or disease can be identified.

What does anatomic pathology focus on? ›

Anatomical pathology is the study of organs and tissues to determine the causes and effects of particular diseases. Click on the links below to learn more about this topic.

What is anatomic diagnosis? ›

Anatomical pathology (Commonwealth) or anatomic pathology (U.S.) is a medical specialty that is concerned with the diagnosis of disease based on the macroscopic, microscopic, biochemical, immunologic and molecular examination of organs and tissues.

What activities are performed in anatomic pathology? ›

The scope of the anatomic pathology includes surgical pathology, biopsies pathology, cytopathology, autopsies, and related techniques (such as immunohistochemistry and molecular pathology). Information systems in anatomic pathology laboratories gather medical data (text, images, etc.)

What is the meaning of molecular pathology? ›

Put simply, molecular pathology is the study of disease at the molecular level. This includes molecules found in tissues, organs, and even bodily fluids. The term “molecular diagnostics” is often used to describe the medical diagnosis aspect of the field.

What are the two main types of pathology? ›

Anatomical pathology is one of two main divisions of the medical practice of pathology, the other being clinical pathology, the diagnosis of disease through the laboratory analysis of bodily fluids and tissues.

What is the difference between anatomic and clinical pathology? ›

The primary difference between an anatomic pathologist and a clinical pathologist is the kind of sample they study. Anatomic pathologists examine samples from organs and other tissues most commonly acquired through surgery. Clinical pathologists test bodily fluids, such as urine, blood, and saliva.

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