Rare case of pediatric trilineal mixed-phenotype acute leukemia with t(11;19)(q23.3;p13)/KMT2A::ELL

Demina, Irina; Zerkalenkova, Elena; Semchenkova, Alexandra; Volchkov, Egor; Boychenko, E. G.; Prudnikova, Maria; Novichkova, Galina; Maschan, Michael; Maschan, Alexey; Olshanskaya, Yulia; Popov, Alexander

doi:10.1016/j.leukres.2023.107018

Cited by 3 publications

(3 citation statements)

References 18 publications

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“…[13]. Среди этих 97 пациентов (58 мальчиков и 39 девочек, медиана возраста 8 лет) было одинаковое количество случаев с 1 и 2 опухолевыми популяциями (по 48 пациентов), а у 1 ребенка наблюдалось 3 опухолевые популяции [20]. Было выявлено 7 основных вариантов комбинаций маркеров (рисунок 1).…”

Section: результаты исследованияunclassified

“…ОЛСФ диагностируют в тех случаях, когда бластные клетки экспрессируют одновременно специфические маркеры миелоидной и одной из лимфоидных линий (бифенотипический вариант, таблица 2 с модификациями из [5]), либо определяются 2 опухолевые популяции с разной линейной принадлежностью (билинейный вариант) [13]. Учитывая генетическую и клональную схожесть отдельных частей опухолевой популяции при билинейной разновидности ОЛСФ [9,20,22], предпочтительно не разграничивать билинейный и бифенотипический варианты, а в обоих случаях диагностировать ОЛСФ, используя для этого лишь разные подходы: определение экспрессии специфических маркеров (таблица 2) или 2 отдельных популяций опухолевых клеток соответственно [13].…”

Section: диагностические рекомендацииunclassified

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Immunophenotyping in the diagnosis of acute leukemias of ambiguous lineage. The results of centralized diagnosis and practical guidelines

Demina,

Mikhailova,

Semchenkova

et al. 2024

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Acute leukemias of ambiguous lineage (ALAL) are rare acute leukemias (AL) that exhibit specific features of more than one hematopoietic lineage or show no distinct evidence of lineage differentiation. Immunophenotyping plays a key role in the diagnosis and classification of ALAL. Despite the availability of diagnostic criteria for ALAL proposed by different expert groups, the accurate diagnosis of ALAL representing a rare and heterogeneous group of diseases remains a challenge. In this paper, we present a brief analysis of 97 pediatric ALAL cases. Such a large cohort of cases with ALAL (ALALs comprising less than 1 % of all pediatric AL) was obtained as a result of the centralized diagnosis of AL. With regard to the obtained results, we have developed the guidelines for the interpretation of the results of immunophenotyping in the diagnosis of ALAL and for the integration of findings from flow cytometry, cytomorphology and genetic testing for the accurate diagnosis and classification of this group of AL.

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Section: результаты исследованияunclassified

Section: диагностические рекомендацииunclassified

Immunophenotyping in the diagnosis of acute leukemias of ambiguous lineage. The results of centralized diagnosis and practical guidelines

Demina,

Mikhailova,

Semchenkova

et al. 2024

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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“…Второй подход (FISH) может быть использован, если особенности иммунофенотипа основной опухолевой популяции позволяют предположить наличие какой-либо хромосомной перестройки. После того как в цельном материале наличие аберрации будет подтверждено, можно провести исследование на изолированных ранее популяциях [30]. Пример сортировки клеток при диагностике ОЛСФ представлен на рисунке 2.…”

Section: обнаружение нескольких потенциально опухолевых популяцийunclassified

Guidelines for the use of flow cell sorting in diagnosis and monitoring of acute leukemia

Semchenkova,

Illarionova,

Demina

et al. 2023

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Flow cell sorting is an advanced laboratory technique that combines the analytical capabilities of flow cytometry with the ability to isolate pure cell populations from heterogeneous samples. It has tremendous potential both for fundamental research and laboratory diagnosis. For example, the combination of cell sorting and molecular genetic studies can be used to clarify ambiguous results of acute leukemia immunophenotyping obtained both at diagnosis and during minimal residual disease monitoring. These guidelines are based on years of experience in incorporating cell sorting into the diagnostic and monitoring processes at the Leukemia Immunophenotyping Laboratory of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. They include methods used for the confirmation of flow cytometry data depending on the type of leukemia, the stage of a flow cytometry assay and previous therapy. They also describe cell sorting algorithms for disease diagnosis and the specifics of sample preparation for cell sorting in different molecular genetic studies.

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Flow cytometry in acute leukemia diagnostics. Guidelines of Russian-Belarusian multicenter group for pediatric leukemia studies

Popov

Verzhbitskaya

Movchan

et al. 2023

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Flow cytometry is one of the key technologies for acute leukemia (AL) diagnostics. Nevertheless, lack of technological standards hampers implementation of immunophenotyping data in treatment protocols. Earlier our group published the acute lymphoblastic leukemia diagnostic standards. In this paper, we present the updated guidelines for initial immunophenotyping of ALs. This wellharmonized approach includes recommendations for monoclonal antibodies choice, sample preparation, cytometer setup, data analysis and interpretation as well as for the report writing. These guidelines allows application of diagnostic flow cytometric studies in all types of AL.

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Rare case of pediatric trilineal mixed-phenotype acute leukemia with t(11;19)(q23.3;p13)/KMT2A::ELL

Cited by 3 publications

References 18 publications

Immunophenotyping in the diagnosis of acute leukemias of ambiguous lineage. The results of centralized diagnosis and practical guidelines

Immunophenotyping in the diagnosis of acute leukemias of ambiguous lineage. The results of centralized diagnosis and practical guidelines

Guidelines for the use of flow cell sorting in diagnosis and monitoring of acute leukemia

Flow cytometry in acute leukemia diagnostics. Guidelines of Russian-Belarusian multicenter group for pediatric leukemia studies

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