MDS/MPN-RS-T justified inclusion as a unique disease entity?

Montalban‐Bravo, Guillermo

doi:10.1016/j.beha.2020.101147

Cited by 3 publications

(1 citation statement)

References 67 publications

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“…Specifically, they are seen in some subtypes of MDS, MPN, MDS/MPN overlap syndromes, and acute myeloid leukemia (AML). According to the World Health Organization (WHO) 2017 classification, the presence of ring sideroblasts in bone marrow (BM) is a diagnostic criterion for MDS with ring sideroblasts (MDS-RS) and MDS/MPN with RS and thrombocytosis (MDS/MPN-RS-T) [ 4 , 11 , 16 ]. Mutations in SF3B1 are seen in ≥80% of patients with MDS-RS [ 4 , 11 ].…”

Section: Acquired (Secondary) Sideroblastic Anemiamentioning

confidence: 99%

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia

Ogunbileje,

Harris,

Wynn

et al. 2024

JPM

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The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubin, reproductive hormones, cholesterol, and iron. Consequently, genetic or physiological disruption in these functions is manifested in various disease processes like cystic fibrosis, Tangier disease, and sideroblastic anemia. Among other etiologies, primary sideroblastic anemia results from a genetic mutation in the ATP-binding cassette-7 (ABCB7), a member of the ABC transporter family. There are not many articles specifically tackling the disease processes caused by ABC transporters in detail. Some testing methodologies previously reported in the available literature for investigating sideroblastic anemia need updating. Here, we expound on the relevance of ABCB7 as a clinically important ABC transporter and a rare participant in the disease process of Sideroblastic anemia. The other genetic and secondary etiologies of sideroblastic anemia, which do not involve mutations in the ABCB7 protein, are also described. We review the pathophysiology, clinical course, symptoms, diagnosis, and treatment of sideroblastic anemia with a focus on modern technologies for laboratory testing.

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Section: Acquired (Secondary) Sideroblastic Anemiamentioning

confidence: 99%

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia

Ogunbileje,

Harris,

Wynn

et al. 2024

JPM

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Clinical characteristics of Japanese patients with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis

et al. 2023

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Myelodysplastic/Myeloproliferative Neoplasms with Features Intermediate between Primary Myelofibrosis and Chronic Myelomonocytic Leukemia: Case Series and Review of the Entity

Bonometti,

Zanella,

Rahal

et al. 2024

Hemato

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Diagnosis of myeloid neoplasm is currently performed according to the presence of a predetermined set of clinical, morphological, and molecular diagnostic criteria agreed upon by a consensus of experts. Even strictly adhering to these criteria, it is possible to encounter patients who present features that are not easily ascribable to a single disease category. This is the case, e.g., of patients with de novo myeloid neoplasms with features intermediate between primary myelofibrosis (PMF) and chronic myelomonocytic leukemia (CMML). In this study, we retrospectively searched the pathological database of IRCCS Humanitas Research Hospital to identify cases of chronic myeloid neoplasm with monocytosis with a driver mutation of classic myeloproliferative neoplasms (MPN) and showing morphological MPN features. For each case, we assessed all epidemiological, clinical, histopathological, and molecular data. Then, we carried out a literature review, searching for cases with features similar to those of our patients. We retrieved a total of 13 cases presenting such criteria (9 from the literature review and 4 from our institution); in all of them, there was a coexistence of clinical, histopathological, and molecular myelodysplastic and myeloproliferative features. To date, according to current classifications (World Health Organization and International Consensus Classification), given the presence/absence of essential features for PMF or CMML, these patients should be formally diagnosed as myelodysplastic/myeloproliferative neoplasm unclassified/not otherwise specified (U/NOS). This review aims to summarize the features of these difficult cases and discuss their differential diagnosis and their classification according to the novel classifications and the existing literature on overlapping myeloid neoplasms.

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MDS/MPN-RS-T justified inclusion as a unique disease entity?

Cited by 3 publications

References 67 publications

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia

Clinical characteristics of Japanese patients with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis

Myelodysplastic/Myeloproliferative Neoplasms with Features Intermediate between Primary Myelofibrosis and Chronic Myelomonocytic Leukemia: Case Series and Review of the Entity

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