Cristina Mambet

• MD
• Institute of Virology Stefan S Nicolau

Introduction: Acute myeloid leukemia (AML) is a form of cancer originating from precursor cells within the bone marrow. Elderly patients with acute leukemia require a personalized approach, considering age, performance status, and comorbidities, to determine suitability for intensive treatment. Methods: We studied the results of intense chemotherap...

Chronic neutrophilic leukemia (CNL) is an extremely rare hematological malignancy, characterized by clonal proliferation of mature neutrophils, whose diagnosis has been facilitated in the last decade by the identification of a highly specific CSF3R T618I mutation. Myelodysplastic syndromes (MDS) are a group of hematological malignancies that share...

Compared to the general population, patients with chronic pancreatitis have an up to 12-fold higher risk of developing pancreatic cancer. The aim of our study was the identification of potential proteomic biomarkers to contribute to the detection of pancreatic cancer among patients with chronic pancreatitis. We initially performed a proteomic scree...

BCR::ABL1‐negative myeloproliferative neoplasms (MPNs) are clonal haematopoietic stem cell disorders characterized by specific driver mutations and an increased risk of both macrothrombosis and microthrombosis. Serotonin receptor type 1B (HTR1B) was found to be expressed by various solid tumours, and also primary bone marrow mononuclear cells from...

Myeloproliferative neoplasms (MPNs), namely, polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are clonal stem cell disorders defined by an excessive production of functionally mature and terminally differentiated myeloid cells. MPNs can transform into secondary acute myeloid leukemia (sAML/blast phase MPN) an...

Background and Objectives: Adult T-cell leukemia/lymphoma (ATLL) is a highly aggressive T-cell lymphoproliferative disease associated with the human T-cell lymphotropic virus type I (HTLV-1). ATLL is a rare disease, found more frequently in HTLV-1-endemic areas, Romania being one of them. Despite treatment advances, the prognosis remains dismal. We...

Representative microscopic images of bone marrow aspirate from a patient previously diagnosed with high-risk myelodysplastic neoplasm that has recently evolved into acute myeloid leukemia (AML)

More than 3 years after the start of SARS‐CoV‐2 pandemic, the molecular mechanisms behind the viral pathogenesis are still not completely understood. Long non‐coding RNAs (lncRNAs), well‐known players in viral infections, can represent prime candidates for patients' risk stratification. The purpose of the current study was to investigate the lncRNA...

Objectives To assess the frequency of multiple thrombophilia-associated mutations and polymorphisms in a selected population of high-risk pregnancies. Methods Thrombophilia screening was performed for 1,500 pregnant women with prior pregnancy complications or thrombotic events. Nine thrombophilia-associated mutations or polymorphisms were screened...

Lineage switch in acute leukemias is considered a rare event, especially in what concerns adult disease compared to pediatric patients. Differential diagnosis between biphenotypic/bilineal leukemias, de novo leukemias, therapy-related and phenotype switch variants, stands as an intricate challenge. Complementary laboratory studies and complex labor...

Somatic frameshift mutations in exon 9 of calreticulin ( CALR ) gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Type 1/type 1-like CALR mutations particularly confer a favorable prognostic and survival advantage in PMF patients. We report an...

Myeloproliferative neoplasms (MPN) are a group of rare hematological malignancies defined by somatic mutations in hematopoietic stem cells with secondary uncontrolled production of mature blood cells. These conditions include primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET), and are characterized by some domina...

ATL is a rare but a highly aggressive T-cell neoplasm associated with human T-cell leukemia virus-1 (HTLV-1) infection. Human T-cell lymphotropic virus type-1 (HTLV-1) is a oncogenic retrovirus responsible for the development of adult T-cell leukemia (ATL), but also for other non-malignant diseases, such as HTLV-1-associated myelopathy/tropical spa...

SARS-CoV-2 vaccines are highly efficient against severe forms of the disease, hospitalization and death. Nevertheless, insufficient protection against several circulating viral variants might suggest waning immunity and the need for an additional vaccine dose. We conducted a longitudinal study on the kinetics and persistence of immune responses in...

Philadelphia-negative classical Myeloproliferative Neoplasms (MPNs), including Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF), are clonal hemopathies that emerge in the hematopoietic stem cell (HSC) compartment. MPN driver mutations are restricted to specific exons (14 and 12) of Janus kinase 2 (JAK2), thromb...

Genetic testing for hereditary thrombophilia, an inherited predisposition to thrombotic events, is increasingly available. To evaluate the rate of positive thrombophilia tests in our laboratory we analyzed the carrier status for common thrombophilia-related gene variants in a consecutive unselected cohort of 360 Romanian patients. Genetic tests wer...

The aim of this study was to to evaluate and correlate the expression of some actors of canonical inflammasome pathway with the degree of cervical lesions in cytologic specimens. Methods: The study group included 128 Romanian female patients aged between 16 and 68 years that were referred to Synevo laboratories for performing both a cytological eva...

Background Despite significant progress in the diagnosis of contact dermatitis, the identification of specific tests or biomarkers remains an unsolved issue, particularly when needed for the confirmation of the occupational origin of the disease. Objective To characterize the plasma proteome profile in occupational dermatitis in workers from paint...

Background: Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm diagnosed in young children, characterized by somatic or germline mutations that lead to hyperactive RAS signaling. The only curative option is hematopoietic stem cell transplantation (HSCT). Recent data showing that aberrant DNA methylation pl...

Introduction Adult T-cell leukemia/lymphoma (ATL) is a peripheral T-cell neoplasm triggered by HTLV1 infection. According to the Japanese studies, the median onset of disease is around age 60 (Yamada Y et al. Br J of Haematol 2001, Kamiunten A et al. Hematol Oncol 2018). The aggressive forms exhibit a poor prognosis, due to intrinsic or acquired ch...

Gastric cancer (GC) remains an important cause of cancer death worldwide with a high mortality rate due to the fact that the majority of GC cases are diagnosed at an advanced stage when the prognosis is poor and the treatment options are limited. Unfortunately, the existing circulating biomarkers for GC diagnosis and prognosis display low sensitivi...

The clinical consequences of the highly prevalent JAK2 V617F mutation in Ph-negative myeloproliferative neoplasms (MPNs) are well studied. However, the impact on the MPN phenotype of co-occurring JAK2 variants is less well characterized. In this study, we focused on JAK2 R1063H, a variant previously reported in a pediatric case of hereditary erythr...

Persistent, low-grade inflammation is now considered a hallmark feature of chronic kidney disease (CKD), being involved in the development of all-cause mortality of these patients. Although substantial improvements have been made in clinical care, CKD remains a major public health burden, affecting 10–15% of the population, and its prevalence is co...

Alterations in the bone marrow niche induced by abnormal production of cytokines and other soluble factors have been associated with disease progression in classical BCR‐ABL1 negative myeloproliferative neoplasms (MPN). Variations in circulating proteins might reflect local disease processes and plasma proteome profiling could serve to identify pos...

Acute myeloid leukemia (AML) is an aggressive malignant disease defined by abnormal expansion of myeloid blasts. Despite recent advances in understanding AML pathogenesis and identifying their molecular subtypes based on somatic mutations, AML is still characterized by poor outcomes, with a 5-year survival rate of only 30%-40%, the majority of the...

The tumor suppressor TP53 gene is one of the commonest mutated genes in colorectal cancer. Beside somatic mutations, the gene harbors numerous genetic variations that may alter the protein functionality, affecting cancer risk and clinical outcome. Among genetic variations, single nucleotide polymorphisms were investigated in relation to cancer risk...

Hemoglobinopathies, such as beta-thalassemia and sickle cell disease (SCD), are among the most common congenital diseases in the world, with high mortality and morbidity rates. The most straightforward approach to correct the main culprit in hemoglobinopathies - the imbalance between the amounts of alpha-like globins/betalike globins-will need to t...

Current therapeutic strategies used in many types of cancer are confronted with the major problem of multidrug resistance (MDR) that can be acquired through several mechanisms. To overcome this limitation, new therapeutic options are being explored involving state-of-the-art technologies. In this respect, small-interfering RNA (siRNA) technology of...

The current understanding of BCR-ABL1 negative myeloproliferative neoplasms pathogenesis is centred on the phenotypic driver mutations in JAK2, MPL, or CALR genes, and the constitutive activation of JAK-STAT pathway. Nonetheless, there is still a need to better characterize the cellular processes that are triggered by these genetic alterations, suc...

Hox genes are critical regulators of embryonic development,being involved in formation of the skeleton and limbs, craniofacial morphogenesis, and in development of the central nervous system, gastrointestinal and urogenital tracts. Furthermore, in adults, Hox genes play an important role in cell renewal and tissue regeneration processes such as hem...

Wide regional differences in the age-related Anti Mullerian hormone (AMH) regression patterns or age at onset of natural menopause have been reported, possibly reflecting genetic, socioeconomic, environmental, racial or ethnic peculiarities. Moreover, adaptation of AMH levels from different assays using regression functions may lack accuracy and ex...

Epigenetic processes including aberrant promoter methylation of tumor suppressor gene play a key role in gastric carcinogenesis. TET proteins are involved in DNA demethylation; many cancers, haematological or solid, present loss-of-function mutations and aberrant expression/ regulation of TET. In gastric cancer there are few studies reporting a dec...

SUMMARY An important goal of oncology is the development of cancer risk-identifier biomarkers that aid early detection and target therapy. High-throughput profiling represents a major concern for cancer research, including brain tumors. A promising approach for efficacious monitoring of disease progression and therapy could be circulating biomarker...

Pancreatic cancer is one of the most aggressive and lethal malignancies. Despite remarkable progress in understanding pancreatic carcinogenesis at the molecular level, as well as progress in new therapeutic approaches, pancreatic cancer remains a disease with a dismal prognosis. Among the mechanisms responsible for drug resistance, the most relevan...

Thrombotic events are highly prevalent in systemic lupus erythematosus (SLE). Antiphospholipid antibodies play an essential role in promoting thrombosis by activating several intracellular signaling pathways (TLR4, p38MAPK, NFkB) in platelets, monocytes and endothelial cells. New therapeutic opportunities might be offered by addressing these molecu...

Eosinophils are leukocytes with multiple functions in physiologic and pathologic circumstances. Eosinophilia is typically associated with reactive conditions (helmintic infections, allergic or drug reactions and atopic disorders) and sometimes with hematologic and non- hematologic malignancies. Evaluation of a patient with eosinophilia requires num...