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Myeloproliferative neoplasms (MPNs) are traditionally separated into BCR-ABL-positive chronic myeloid leukemia (CML), and BCR-ABL-negative MPNs including primary myelofibrosis (PMF), essential thrombocythemia (ET), and so forth. One of the diagnostic requirements for PMF and ET is the absence of the Philadelphia chromosome, while its presence is al...
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Somatic mutations in the calreticulin (CALR) gene are associated with approximately 30% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). CALR mutations, including the two most frequent 52 bp deletion (del52) and 5 bp insertion (ins5), induce a frameshift to the same alternative reading frame generating new C-terminal tails. In pat...
Citations
... Among these, ET is an extremely rare disease and is characterized by persistent, nonreactive thrombocytosis (> 450 X 10 9 /L) with an increased risk for thrombotic/bleeding events. 1 Patients of Essential Thrombocythemia have an increased risk of developingboth hematological and non-hematologicalmalignancies however there is not much increased risk of breast cancer in such patients as compared to general population. 2 We hereby present an extremely unusual case of ET with coexistent breast cancer creating a therapeutic challenge for the clinicians. ...
... Essential thrombocythemia mostly occurs in elderly individuals with an average age of 60 yearsand a female preponderance (Female:Male ratio approximately 2:1). 1 However the present case is a much younger female in her third decade.Tefferi et al 3 studied ET in young females and concluded that they have long survival with a low incidence of life-threatening thrombo-hemorrhagic complications or acute leukemia. WHO diagnostic criteria for ET include: (1) Platelet count > 450 X 10 6 /cumm, (2) BM biopsy showing proliferation mainly of the megakaryocytic lineage with increased numbers of enlarged, mature megakaryocytes with hyperlobulated nuclei, (3) Presence of JAK2, CALR or MPL mutation (4) Not meeting WHO criteria for BCR-ABL1 + Chronic Myeloid Leukemia (CML), Polycythemia Vera (PV), Primary Myelofibrosis (PMF), Myelodysplastic syndrome (MDS) or other myeloid neoplasms with absence of any evidence for reactive thrombocytosis. ...
Essential thrombocythemia (ET) is an extremely rare myeloproliferative neoplasm (MPN) which is characterized by persistent, non-reactive thrombocytosis (> 450 X 109/L) and an increased risk for thrombotic events.These patients have an increased risk of both hematological and non-hematological malignancies however the risk of breast cancer in MPN is not increased in comparison to general population. We hereby present an extremely unusual case of ET in a 38 years old female (diagnosed with breast cancer), which came to light on routine pre-surgical work up of the patient.Diagnosis was confirmed on bone marrow aspiration clubbed with JAK 2 mutation. Patients with ET have an increased risk of thrombosis thereby it becomes challenging for the clinician to operate on a coexistent solid tumor. On extensive literary search, there was a single case of coexistent Breast Cancer and Essential Thrombocythemia and we are reporting second such coexistence to the best of our knowledge. Bangladesh Journal of Medical Science Vol. 21 No. 02 April’22 Page : 463-466
... Some researchers point out if we accept the malignant niche and two distinct precursor cells too as well as the accumulation of more differentiated and maturated cells in the disorder, thus we understand the skill and ability of malignant HSCs to covering molecular analysis and the microenvironment controlling in the heterogenous cells too. In MPN, in the molecular analysis detected many similarities but a number of these analysis, have some unexpected importance differences, for example, the BCR-ABL positive ET without any CML morphology in the smears of PB and BM [24][25][26]. ...
Hematopoietic neoplasms are known or assumed to be clonal processes arising as the result of genetic errors. But I think some other items should be involved in these neoplasms too. As we know, Hematopoietic Stem Cells (HSCs) are classified as important stem cells due to their ability to differentiate to the cells including the lineages of lymphoid and myeloid cells. Lymphoid cell lineage includes T and B cells while granulocytes, monocytes, erythrocytes, megakaryocytes belong to the lineage of myeloid. Hematopoiesis, is controlled by several complex interactions between genetic processes in blood progenitor cells and bone marrow microenvironment as an important regulator in this matter. Thus, we must understand how malignancy disrupts the normal mechanisms of hematopoiesis which controlling HSC function and blood production? In the past decades, the theoretical concept of a stem cell microenvironment was proposed and its structure is called HSC niche described which the existence of niche includes regulating in function of HSC and its differentiation. Citation: Rahnemoon AR (2021) Study of hematopoietic microenvironment in some blood disorders particularly in malignant hematopoietic diseases. J Tum Res Reports, 6:135.
... The leukemic cells effect on MSCs to high production directly that changed OBCs into ruin hematopoiesis, support LSC function and help to fibrosis in the bone marrow [22][23][24]. 4): In CMPD, in the molecular analysis detected many similarities but a number of these analysis, have some unexpected importance differences, Why? [20][21][22][26][27][28][29][30][31][32][33][34]. ...
Normal hematopoiesis depends on critical interactions that occur between stem cells and their microenvironment. This microenvironment is a complex meshwork composed of growth factors, stromal cells, and the extracellular matrix. Pluripotent Stem Cells (PSCs) are the stem cells which present in Chronic Myeloproliferative Disorders (CMPD) to have self-renewal capacity and towards differentiated cells in blood cells lineages. When the process of these stem cells become deregulated, neoplasm can result with possibly several mutations as well as the alterations in the control of growth factors and meanwhile disrupt the normal HSC function and blood cell production. Thus, these interactions must important in the pathogenesis and clinical expression of hematopoietic malignancies in humans. Here, I review the leukemic hematopoietic microenvironment and the genetic alterations as well.
... A few similar cases with combined Philadelphia chromosome positivity and features of primary myelofibrosis have been described so far. 11,12 However, in a similar case, the disease response to imatinib was reported to be poor. 12 Another case report describes a patient who initially presented with primary myelofibrosis, but developed CML 7 years later. ...
Introduction:
Myeloproliferative neoplasms (MPNs) are divided into BCR-ABL positive Chronic myeloid leukemia (CML) and BCR-ABL negative MPNs including Polycythemia vera (PV), Essential Thrombocythemia (ET) and Primary myelofibrosis (PMF). Evaluation of the Philadelphia chromosome in MPNs is a diagnostic requirement for classic CML.
Case report:
In 2020, a 37-year-old woman with negative cytogenetic testing for Janus kinase2 (JAK2), Calreticulin (CALR), myeloproliferative leukemia virus oncogene (MPL), and positive for BCR-ABL1 mutation with reticular fibrosis in bone marrow was diagnosed as CML. Some years ago, the patient had been diagnosed with PMF with evidence of histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto disease (KFD). The BCR-ABL fusion gene was initially evaluated which was negative. Then, Cutaneous squamous cell carcinoma (cSCC) was confirmed by Dermatopathologist with palpable splenomegaly and high white blood cell (WBC) count with basophilia. Finally, BCR-ABL was detected positive by the fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (qRT-PCR). In fact, the co-occurrence of PMF with CML was identified.
Conclusion:
This case study highlighted the importance of some cytogenetic methods in the detection and classification of MPNs. It is recommended that physicians pay more attention to it and be aware of the planning treatment.
Globally, everyone has gone through an unusual and remarkable period during the COVID-19 pandemic. The pandemic has affected various sectors in the country and implicated society. Important services including the health care system, particularly in surgery, have raised challenges and issues that need to be sorted out. This action is prudent to justify the balance in between care on preventing the spread of COVID-19 infection and at the same time providing surgical services. In this article are the perspectives on how we elicit the issues and the solutions in providing surgical services during the COVID-19 pandemic in our state, Sabah.
