"Mast cell leukemia"

Midostaurin (Rydapt) - for the treatment of adult patients with aggressive systemic mastocytosis, systemic mastocytosis with associated haematological neoplasm, or mast cell leukaemia Published 9 July 2018 Statement of Advice: midostaurin 25mg soft capsules (Rydapt®) SMC2100 Novartis Pharmaceuticals UK Ltd 8 June 2018 ADVICE: in the absence of a submission from the holder of the marketing authorisation midostaurin (Rydapt®) is not recommended for use within NHSScotland. Indication under review: as monotherapy for the treatment of adult patients with aggressive systemic mastocytosis, systemic mastocytosis with associated haematological neoplasm, or mast cell leukaemia. The holder of the marketing authorisation has not made a submission to SMC regarding this product

Identification of a leukemia-initiating stem cell in human mast cell leukemia. Mast cell leukemia (MCL) is a highly fatal malignancy characterized by devastating expansion of immature mast cells in various organs. Although considered a stem cell disease, little is known about MCL-propagating neoplastic stem cells. We here describe that leukemic stem cells (LSCs) in MCL reside within a CD34/CD38

De novo mast cell leukemia without CD25 expression and KIT mutations: a rare case report in a 13-year-old child Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) and accounts for less than 0.5% of all mastocytosis. The diagnosis of MCL requires the presence of SM criteria, accompanied by leukemic infiltrating of atypical mast cells (MCs) in bone marrow (BM), peripheral

KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia Mast cell (MC) leukemia (MCL) is extremely rare. We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML). A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea. She had a maculopapular skin rash, hepatosplenomegaly

The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm. Mast cell leukemia is a rare variant of advanced systemic mastocytosis characterized by at least 20% of mast cells in a bone marrow smear. We evaluated clinical and molecular characteristics of 28 patients with (n=20, 71%) or without an associated hematologic neoplasm. mast cell leukemia was diagnosed in 16 of 28 (57%) patients and secondary mast cell leukemia evolving from other advanced systemic mastocytosis subtypes in 12 of 28 (43%) patients, of which 7 patients progressed while on cytoreductive treatment. Median bone marrow mast cell infiltration was 65% and median serum tryptase was 520 μg/L. C-findings were identified in 26 of 28 (93%) patients. Mutations in (D816V, n=19; D816H/Y, n=5

Myelodysplasia and Mast Cell Leukemia with t(9;22) Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. An 80-year-old female presented with pancytopenia

Highly Aggressive de novo Aleukemic Variant of Mast Cell Leukemia Without KIT D816V Mutation

Mast cell leukemia (MCL): clinico-pathologic and molecular features and survival outcome Mast cell leukemia (MCL) is a very rare subtype of systemic mastocytosis (SM). We have identified 13 such patients (5.9%) among 218 patients with SM seen at our institution between 1994 and 2016. Patients with MCL had poor survival (median 31.6 months); response to various therapies was rare and not durable

Infliction of proteotoxic stresses by impairment of the unfolded protein response or proteasomal inhibition as a therapeutic strategy for mast cell leukemia The intensity and duration of endoplasmic reticulum (ER) stress converts the unfolded protein response (UPR) from an adaptive into a terminal response. The first regulates homeostasis, the latter triggers apoptosis. Cells that rapidly proliferate and possess developed secretory capabilities, such as leukemia cells, depend on an efficiently operating UPR to maintain proteostasis. Activation of terminal UPR by either blockade of adaptive UPR or exaggeration of ER stress has been explored as a novel approach in cancer therapy. For mast cell leukemia (MCL) the efficacy of both approaches, by utilizing the KIT-positive MCL cell line HMC-1.2

Complete response to gemtuzumab-ozogamicin in a patient with refractory mast cell leukemia.

A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data Mast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and transcriptome

Application of next generation sequencing in the diagnosis and management of mast cell leukemia

Identification of bromodomain-containing protein-4 as a novel marker and epigenetic target in mast cell leukemia. Advanced systemic mastocytosis (SM) is a life-threatening neoplasm characterized by uncontrolled growth and accumulation of neoplastic mast cells (MCs) in various organs and a poor survival. So far, no curative treatment concept has been developed for these patients. We identified

Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal. Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis. In a subset of patients, circulating MCs

Mast cell leukaemia presenting with multiple osteoporotic fractures in an elderly woman. Osteoporotic fractures in elderly women are mainly due to postmenopausal bone loss but can sometimes be caused by a disabling haematological disease. We describe an 84-year-old woman suffering from multiple osteoporotic fractures as a manifestation of mast cell leukaemia. Mast cell leukaemia is a rare form

Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage Mast cell leukemia (MCL) is a rare, life-threatening malignancy defined by a substantial increase in neoplastic mast cells (MCs) in bone marrow (BM) smears, drug-resistance, and a poor prognosis. In most patients, the survival time is less than 1 year

Mast cell leukemia. Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for < 1% of all mastocytosis. It may appear de novo or secondary to previous mastocytosis and shares more clinicopathologic aspects with systemic mastocytosis than with acute myeloid leukemia. Symptoms of mast cell activation-involvement of the liver, spleen, peritoneum, bones

Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully

advanced systemic mastocytosis (including aggressive systemic mastocytosis, systemic mastocytosis with an associated haematological neoplasm and mast cell leukaemia) in adults. Avapritinib is only recommended if the company provides it according to the commercial arrangement. Why the committee made this recommendation Standard treatments for advanced systemic mastocytosis include midostaurin mastocytosis (TA1012)© NICE 2024. All rights reserved. Subject to Notice of rights ( 4 of23 2 Information about avapritinib Marketing authorisation 2.1 Avapritinib (Ayvakyt) is indicated 'as monotherapy for the treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with an associated haematological neoplasm (SM-AHN), or mast cell leukaemia (MCL)'. Dosage

aggressive systemic mastocytosis ACT appropriate comparator therapy AdvSM advanced systemic mastocytosis BSC best supportive care G-BA Gemeinsamer Bundesausschuss (Federal Joint Committee) IQWiG Institut für Qualität und Wirtschaftlichkeit im Gesundheitswesen (Institute for Quality and Efficiency in Health Care) MCL mast cell leukaemia RCT randomized controlled trial SGB Social Code Book V SM-AHN systemic patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated haematologic neoplasm (SM-AHN), or mast cell leukaemia (MCL). The research question presented in Table 2 is derived from the ACT specified by the G-BA. Extract of dossier assessment A23-111 Version 1.0 Midostaurin ( systemic mastocytosis) 9 Feb 2024 Institute for Quality and Efficiency in Health Care (IQWiG) - I.6