SEQC Spanish Society of Laboratory Medicine

labclin+2022

• These pathologies include infections or anemia, extremely serious situations such as thrombotic thrombocytopenic purpura or moderate/severe deficiency states, diseases that, if not detected in time, can lead to a very unfavorable prognosis in some patients

• Peripheral blood cytology contributes significantly to the differential diagnosis between different non-neoplastic diseases.

• Precision medicine is the paradigm for improving survival in cancer patients

Non-neoplastic diseases such as anemias, infections, or platelet disorders are not malignant and, therefore, with adequate treatment, exhibit a good response and favorable evolution. However, if not detected in time, they could result in a very unfavorable prognosis for some patients. The XVI National Clinical Laboratory Congress (LabClin 2022), organized jointly by the Spanish Society of Laboratory Medicine (SEQC^ML), the Spanish Medical Biopathology-Laboratory Medicine Association (AEBM-ML), and the Spanish Clinical Laboratory Association (AEFA), addressed the role of the Hematology laboratory in early identification of these conditions so as to reach a correct diagnosis and thus address the treatment and monitoring of this group of patients. In turn, experts presented the new advances of Laboratory Medicine in cancer management and highlighted the work of the clinical analyst in the diagnosis of oncological disease and the selection of the most appropriate treatment, carrying out massive sequencing of biopsies.

Dr. Anna Merino, member of the SEQC^ML Hematological Biology Commission, explained in her presentation, 'Non-neoplastic pathological groups and their cytological characteristics', the three most important non-neoplastic pathological groups: “Firstly, we talked about the anemias, covering the most important from the point of view of their differential diagnosis in the laboratory, and we detailed the morphological keys for their identification.” Secondly, Dr. Merino continued, all those infections that can give rise to morphological changes in peripheral blood and that allow their origin to be identified by observing a smear were presented. “Finally, we talked about some alterations of platelets that affect their morphology”, reported the specialist.

Inadequate diagnosis of any of these non-neoplastic pathological groups can result in inadequate therapeutic measures with an undesirable effect on patients. As pointed out by Dr. Anna Merino, "the meticulous observation of the morphological characteristics of blood components and other relevant data can contribute to the accurate diagnosis of these diseases". As she stated, peripheral blood cytology contributes significantly to the differential diagnosis between different non-neoplastic diseases. "The detection of certain morphological alterations in blood cells allows for the interpretation of the clinical-biological findings of numerous non-neoplastic diseases", she added.

The detection and diagnosis of non-neoplastic diseases in the laboratory is key. As stated by Dr. María José Alcaide, member of the SEQC^ML Hematological Biology Commission, neoplastic diseases, due to their severity and prognosis, are usually the ones that most concern emergency and routine laboratory personnel. “However, non-neoplastic pathologies such as infections occupy more than 80% of our time and activity. It is vitally important that routine and emergency laboratories identify them early in order to reach the correct diagnosis and thus address the treatment and monitoring of this group of patients”, noted the physician.

The diagnostic techniques that have more weight in the detection of non-neoplastic pathology in the Hematology laboratory are the complete blood count and the morphological observation of a peripheral blood smear. In the words of Dr. María José Alcaide, the blood count is one of the tests that contributes the most to clinicians in the diagnosis and evolution of the patient. In her presentation, 'Role of hematimetry analyzers in the detection of non-neoplastic pathology', she reported on the current availability of "state-of-the-art hematimetry analyzers that allow for the study of all cell populations, with greater efficiency, precision and accuracy of results, and also incorporate new research parameters that allow for the expansion of diagnostic capacity”.

The doctor stressed the need to know the technology used by the analyzer used in the clinical laboratory. In addition, it is necessary to know how it generates alarms regarding the existence of abnormalities or warnings "and how to take them into account when evaluating the results," she added. Finally, she highlighted the importance of integrating the numerical results, the observation of alarms, and the interpretation of the graphs produced by the analyzer and, with all this information, "make a good correlation with the peripheral blood microscope study, to carry out a correct diagnostic orientation of the patient”.

Laboratory Medicine, key in the approach to cancer

Beyond the field of Hematology, Laboratory Medicine plays a fundamental role in the approach to cancer, since it allows for guiding or ruling out some pathologies, thus helping in the planning of tests of high complexity, morbidity, and high economic cost. In addition, thanks to current treatments based on molecular alterations in the tumor, it is necessary to know these alterations in order to carry out a correct treatment.

The critical review of current evidence-based recommendations is one of the main innovations in this field. As explained by the president of the Commission on Biological Markers of Cancer of the SEQC^ML, Dr. Jaume Trapé, "it can provide an improvement in certain types of cancer, especially in very specific situations of managing patients with specific characteristics".

Also, this expert stressed that precision medicine in the Clinical Laboratory "will allow for the most appropriate choice of drugs for each patient." Besides, in his opinion, rapid diagnostic units can facilitate the choice of other complementary tests depending on whether patients are high or low risk.

In his presentation, 'Role of tumor markers in decision-making in rapid diagnosis units', the doctor stressed that until now there has been no recommendation to use tumor markers in diagnosis. As he stated, “published studies with more than 5,000 patients show that if several tumor markers are used with clinically controlled cut-off points (pathology-specific), we can have high sensitivity and a very high specificity that will allow us to classify patients at high risk.”

On the other hand, he explained, with broad combinations of tumor markers "we can obtain negative predictive values ​​that are good enough to identify patients with symptoms or signs of low-risk cancer, which together with other laboratory tests and clinical characteristics will permit greater planning and reduction of high-cost complementary tests”.

Massive sequencing of biopsies

For his part, Dr. Samuel Martín Rodríguez of the Clinical Analysis Service of the Hospital San Pedro de Logroño, explained that the clinical analyst carries out massive sequencing of biopsies. In his presentation, 'Sequencing of solid tumors by means of NGS: experience of a Clinical Analysis Service', he stated that "massive sequencing techniques for solid tumors allow the simultaneous analysis of multiple genes and the study of different types of genomic alterations in a single test.”

In particular, next-generation sequencing (NGS), by characterizing tumor alterations at the molecular level, allows for the selection of a personalized treatment, which is known as precision oncology. For some types of tumor, clinical guidelines already recommend the routine use of NGS to save time and optimize resources. “The participation of the clinical analyst in hospital tumor commissions allows for molecular advice to be provided to the rest of the professionals”, highlighted Dr. Martín.

For Dr. Trapé, the critical review of recommendations makes it possible to update treatments, and the use of diagnostic tests can improve quality of life. "By allowing better planning of diagnostic tests, it improves the time between the different tests and therefore the quality of life."

Precision medicine, the expert stressed, is the paradigm for improving survival in cancer patients. "The main challenge to face is the collaboration between different hospital services to apply the new knowledge".