Home » From molecular diagnosis to telepathology, the evolution of pathological anatomy

From molecular diagnosis to telepathology, the evolution of pathological anatomy

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A health professional of whom little is known because he often works in the shadows but who has ‘noir’ connotations because, in the collective imagination, his work is almost inevitably associated with autopsy, a medical act that causes some concern. In reality, this medical figure today has undergone profound transformations and a professional renewal that few are aware of. To explain what the new ‘frontiers’ of this profession are Anna Sapino, president of the Italian Society of Pathological Anatomy and Cytopathology (Siapec).

All the roles of the pathologist

The anatomopathologist is a pathological anatomy specialist who plays an essential role in the diagnosis on cells (cytological diagnosis) and on human tissues (histological diagnosis). But to understand what it does, it may be useful to give some examples. “If biopsies are made during a gastroscopy for a suspected gastritis – explains Sapino – it is the anatomopathologist who, evaluating under the microscope, on a histological slide, confirms whether or not the gastroenterologist is suspected of diagnosing”. When there is a pigmented lesion on the skin, it is still the pathologist who must tell the dermatologist if it is a benign lesion, for example a nevus, or malignant such as melanoma. And again: in the case of kidney or heart transplants it plays a fundamental role in evaluating the suitability of the organ and subsequently monitors any rejection pathology on biopsies. “Furthermore – adds Sapino – when a subject is operated on, it is the anatomopathologist who receives the ‘operative piece’ and must know where to perform the samples, which will be examined under a microscope and on which a diagnosis will be made that depends on the ability to interpret with our eyes under the microscope, according to specific criteria, a ‘morphological’ picture that is never the same “.

How the profession has evolved

The medical discipline of Pathological Anatomy has had a continuous evolution and is increasingly integrated into the diagnostic-therapeutic clinical paths. “In the pre-operative phase, for example, we are present alongside radiologists when they do biopsies and fine needle aspirations to share with them in the field the suitability of the collection, giving the adequacy of the material taken for diagnosis”, explains the president of Siapec. Not only that: they can be the virtual ‘eyes’ that guide the surgeon’s hand during the operation. “The surgeon – explains Sapino – can send to the pathological anatomy during the surgery, samples of healthy tissues on the periphery of the lesions, for example tumors that must be removed, to find out if the tumor has been completely excised. Pathological anatomy technicians must quickly prepare the slide through an extemporaneous intraoperative examination, we must look at it under the microscope and within a few minutes give the diagnosis. If there is still a tumor present, the surgeon continues with the operation “.

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Pathologist and oncology

With the advent of increasingly personalized precision medicine in oncology, the role of pathologists has become crucial in all phases of the diagnostic and therapeutic process. In the screening of uterine tumors from Hpv, the “pap test” and the execution of molecular tests to define if there is an infection with a high risk of inducing cancer are delegated to the pathological anatomies. “In screening for breast and colon cancers – adds Sapino – we intervene by making the diagnosis on fine needle aspiration or biopsy samples on lesions identified as ‘suspicious’ on radiological and colonoscopic examination. Furthermore, we participate in multidisciplinary groups in the pre-operative discussion of tumors, giving indications on the most correct therapeutic path to follow ”.

Molecular diagnosis

But the pathologist also plays a fundamental role in molecular diagnosis to identify which are the molecular targets that can be used by the oncologist for personalized therapy. In particular, using molecular analyzes carried out with “NGS” tools (acronym for Next Generation Sequencing), it is possible to find targets against which specific drugs exist. “The NGS analysis, carried out in pathological anatomy – explains the expert – can provide thousands of data that must be interpreted and from which what can be useful for the treatment of the tumor must be extrapolated. For this reason, the associations of patients and doctors are working with ministerial bodies to establish on which patients these tests are useful, for prescriptive appropriateness and Siapec is also participating in the organization of a national network of laboratories that guarantee an effective and quality”.

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Pathologists and Covid

In the first wave of the Covid-19 pandemic disease, pathologists with coroners played an essential role in understanding why people died. In particular, some specialists from the most affected areas, such as the city of Bergamo, have performed autopsies demonstrating that Covid-19 is a multi-organ systemic disease, because the virus not only attacks the lungs, but also the heart, the liver, the kidneys, spleen and bone marrow. “The microscopic analysis of the samples – says Sapino – allowed us to demonstrate that the presence of thrombi determined the damage of the various organs and therefore led to the association of appropriate anticoagulant drugs”. The scientific society of pathologists is promoting a national study group to address the diagnostic and organizational challenges related to the ongoing emergency and is finalizing the creation of an archive of micro and macroscopic images illustrating the organ damage induced by Sars-CoV -2. An archive of these images will certainly help in the diagnostic activity and could be an important source for maintaining high diagnostic performance.

The tools of the trade and telepathology

Given the evolution of this profession, in addition to the ‘old’ microscope, what are the working tools that the anatomopathologist uses? “The material on which we make the diagnosis – answers Sapino – is a slide on which the tissue and cells are deposited to be examined after appropriate procedures and stains that allow them to be seen under a microscope. Now thanks to digitization, through scanning systems, we are able to project the slide on a screen and analyze it on a computer. This process, which has been used for years by radiology, is becoming increasingly useful also in pathological anatomy “. The guidelines of the Superior Health Council provide that the slides can also be archived in digital form. Through digitization, consultation with the so-called “telepathology” becomes easy and this can be used by pathologists for a discussion with experts who can provide support on rare or difficult cases, but also to patients who wish to have a second opinion. “Siapec – adds Sapino – hopes for a fruitful confrontation with the government bodies that can also recognize these methods of diagnostic services in the essential levels of assistance”.

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Young pathologists ‘grow up’

In short, there is no doubt that choosing to become pathological anatomy specialists will allow young doctors to be at the forefront of diagnosis and alongside colleagues and patients. The specialty places in Pathological Anatomy have been opened, because even the regions have understood the need to strengthen health structures and all places are filled by enthusiastic young people. “Siapec – concludes Sapino – has launched a challenge for our ‘young’ colleagues under 35 and specializing in Pathological Anatomy with the aim of revolutionizing pathological anatomy on issues of soft skills, new technologies, digital modernization. The young people, helped by top-level experts in communication, engineering and economics, have produced presentations that are subject to a vote by the members and the most voted topics will be integrated into the company’s innovation and development program ”.

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