Mast Cell Diseases in Practice and Research: Issues and Perspectives Raised by Patients and Their Recommendations to the Scientific Community and Beyond.

Background: Since 2010, patients and physicians have collaborated to understand unmet needs of patients with mast cell diseases, incorporating mastocytosis and mast cell activation disorders, which include mast cell activation syndromes.

Objective: This Open Innovation in Science project aims to expand understanding of the needs of patients affected by mast cell diseases, and encourage global communication among patient advocacy groups, physicians, researchers, industry, and government. A major aim is to support the scientific community's efforts to improve diagnosis, management, therapy, and patients' quality of life by addressing unmet needs.

Prevalence of iron deficiency in pregnant women: A prospective cross-sectional Austrian study.

The aim of the study was to determine, for the first time, in a prospective cross-sectional multicenter study, the prevalence of iron deficiency (ID) in an Austrian pregnant population. A cohort of 425 pregnant women was classified into four groups of different weeks of gestation. Group 1 was monitored longitudinally, while groups 2-4, iron status, were sampled only once.

Impact of frailty on the management of patients with gynecological cancer aged 80 years and older.

Purpose: To assess the impact of frailty on compliance of standard therapy, complication, rate and survival in patients with gynecological malignancy aged 80 years and older.

Methods: In total, 83 women with gynecological malignancy (vulva, endometrial, ovarian or cervical cancer) who underwent primary treatment between 2007 and 2017 were retrospectively analyzed. Frailty index was calculated and its association with compliance of standard treatment, peri- and postoperative mortality and morbidity, and survival was evaluated.

Clustering of comorbidities is related to age and sex and impacts clinical outcome in myelodysplastic syndromes.

Objectives: Myelodysplastic syndromes (MDS) are typical diseases of the elderly. The clinical outcome of a well-characterized cohort of patients with MDS was analyzed for prevalence and impact of comorbidities to establish the basis for tailored treatment algorithms. Focus was on age- and sex-related differences.

Proposed score for survival of patients with myelodysplastic syndromes.

Background: Patient selection for various therapies in myelodysplastic syndromes (MDS) is based on prognostic factors, scoring systems and the individual life expectancy. However, most established risk scores include mainly disease-related parameters and thus focus on leukaemia-transformation rather than survival.

Patients And Methods: To establish a risk score optimized for prediction of survival, we analysed international prognostic scoring system (IPSS)-related and IPSS-independent variables in 400 patients with primary MDS (median age: 71 years; range 18-91) of the Austrian MDS platform.

Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM).

Systemic mastocytosis (SM) is a hematopoietic neoplasm characterized by pathologic expansion of tissue mast cells in one or more extracutaneous organs. In most children and most adult patients, skin involvement is found. Childhood patients frequently suffer from cutaneous mastocytosis without systemic involvement, whereas most adult patients are diagnosed as suffering from SM.

Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience.

Background: Mediator-related symptoms in patients with systemic mastocytosis (SM) range from mild episodic to severe life-threatening events.

Methods: We examined a series of 137 consecutive patients with mastocytosis (63 females and 74 males) referred to our center between 1988 and 2010. Almost all patients received prophylactic histamine receptor (HR1 and HR2) antagonists.

Idiopathic bone marrow dysplasia of unknown significance (IDUS): definition, pathogenesis, follow up, and prognosis.

Minimal diagnostic criteria for myelodysplastic syndromes (MDS) include constant cytopenia recorded for at least 6 months, dysplasia, and exclusion of other causes of cytopenia and dysplasia. However, there are patients with dysplastic bone marrow features with or without a karyotype, who have only mild if any cytopenia. This condition has been termed idiopathic dysplasia of unknown significance (IDUS).

Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS.

It is now generally appreciated that hematologic neoplasms can develop over many years if not decades, often being initially occult or showing minimal (subdiagnostic) abnormalities. However, whereas such early neoplastic conditions have been defined in some detail in lymphoproliferative neoplasms, little is known about minimal lesions preceding the manifestation of an overt myeloid neoplasm, about underlying mechanisms, the clinical course and outcome, and the prognostic significance of such conditions. Members of several groups have recently described two 'premalignant' myeloid conditions, namely idiopathic cytopenia of undetermined significance (ICUS) and idiopathic bone marrow dysplasia of uncertain significance (IDUS).

Standards and impact of hematopathology in myelodysplastic syndromes (MDS).

The diagnosis, classification, and prognostication of patients with myelodysplastic syndromes (MDS) are usually based on clinical parameters, analysis of peripheral blood and bone marrow smears, and cytogenetic determinants. However, a thorough histologic and immunohistochemical examination of the bone marrow is often required for a final diagnosis and exact classification in these patients. Notably, histology and immunohistology may reveal dysplasia in megakaryocytes or other bone marrow lineages and/or the presence of clusters of CD34-positive precursor cells.

Meeting report: Vienna 2008 Workshop of the German-Austrian Working Group for Studying Prognostic Factors in Myelodysplastic Syndromes.

Criteria, scoring systems, and treatment algorithms for myelodysplastic syndromes (MDS) have been updated repeatedly in recent years. This apparently results from increased awareness and early recognition of the disease, an increasing number of new diagnostic and prognostic markers and tools, and new therapeutic options that may change the course and thus prognosis in MDS. To address these challenges and to create useful new diagnostic and prognostic parameters and scores, the German-Austrian Working Group for Studying Prognostic Factors in MDS was established in 2003 and later was extended to centers in Switzerland (D-A-CH group).

[Individualized management and therapy of myelodysplastic syndromes].

Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis and a tendency to transition to acute myeloid leukemia. Due to the increasing number of older patients in Austria and the high frequency of therapy-associated MDS following successful chemo- and/or radiotherapy of a primary tumor, the frequency and relevance of MDS are continuously increasing. While therapeutic options were until recently limited to best supportive care, AML-like induction chemotherapy and hematopoietic stem cell transplantation (HSCT) in younger patients, in recent years new therapeutic options have become available.

Impact of age and comorbidity in myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) represent a heterogeneous group of myeloid neoplasms that are preferentially diagnosed in the elderly. With the increase in older patients with MDS in the Western world and the availability of more therapeutic options, new strategies and algorithms for optimal management and treatment of these patients must be developed. Although age is recognized as an important adverse variable affecting survival, most scoring systems have not included age in score risk calculations.

New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients.

We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes (MDSs) at 4 institutions in Austria and 4 in Germany. Cytogenetic analyses were successfully performed in 2072 (97.6%) patients, revealing clonal abnormalities in 1084 (52.

Idiopathic cytopenia of undetermined significance (ICUS) versus low risk MDS: the diagnostic interface.

It may sometimes be difficult to diagnose low risk MDS in patients with mild cytopenia. We report on 10 patients with mild to marked, unexplained cytopenia without definitive signs of a myeloid neoplasm. In two patients, a karyotype-abnormality (trisomy 14; monosomy 7) was detected in a small subset of bone marrow cells.

Eosinophilia in systemic mastocytosis: clinical and molecular correlates and prognostic significance.

Background: In a group of patients with systemic mastocytosis (SM), marked and sustained eosinophilia is detectable (SM-eo).

Objective: Although the molecular defect has been defined in some cases, little is known about the impact and clinical correlates of eosinophilia.

Methods: In a cohort of 63 patients with SM, we identified 9 with permanent eosinophilia (>1500/microL).

Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: Monoclonal mast cell activation syndrome.

Background: Patients with mastocytosis may suffer from severe hypotension after wasp or bee stings. In these patients, no specific IgE is detectable, but they usually have skin lesions and an elevated serum tryptase level.

Methods: We report on 6 patients who were referred to our department because of severe hypotension following bee or wasp stings without cutaneous lesions.

Immunohistochemical detection of vascular endothelial growth factor (VEGF) in the bone marrow in patients with myelodysplastic syndromes: correlation between VEGF expression and the FAB category.

Recent data suggest that vascular endothelial growth factor (VEGF) is produced in neoplastic cells in various myeloid neoplasms and plays a key role as an autocrine regulator and mediator of angiogenesis. We examined the expression of VEGF in paraffin-embedded bone marrow sections obtained from normal donors (n = 5) and 46 patients with myelodysplastic syndromes [MDS, French-American-British (FAB)-type refractory anemia (RA), n = 10; refractory anemia with ringed sideroblasts (RARS), n = 10; refractory anemia with excess blasts (RAEB), n = 10; RAEB in transformation (RAEB-T), n = 8; chronic myelomonocytic leukemia (CMML), n = 8] by immunohistochemistry using an anti-VEGF antibody. In normal bone marrow, the anti-VEGF antibody was found to react with myeloid progenitor cells, immature monocytic cells, plasma cells and megakaryocytes, but not with erythroid cells or mature granulocytic cells.

Cell surface membrane antigen phenotype of human gastrointestinal mast cells.

Background: Mast cells (MC) are important effector cells of allergic and inflammatory reactions in diverse organs. These cells interact with a number of other immune cells and structural cells in the tissues as well as with proinflammatory mediators and cytokines. The various interactions are considered to be mediated through distinct cell surface membrane receptors on MC.

High dose intermittent ARA-C (HiDAC) for consolidation of patients with de novo AML: a single center experience.

High dose intermittent ARA-C (2x3 g/m(2) i.v., days 1, 3, 5)=HiDAC was introduced as consolidation in AML by the CALGB-group in 1994.

Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes.

Background: In contrast to aggressive mastocytosis, patients with indolent systemic mastocytosis (ISM) usually present with urticaria pigmentosa-like skin lesions. In those who lack skin lesions, mastocytosis is often overlooked or confused with endocrinologic, allergic, or other internal disorders.

Case Report And Results: We report on a 33-year-old male patient in whom severe hypotensive episodes occurred after contact with ants or yellow jackets.

A novel effective and safe consolidation for patients over 60 years with acute myeloid leukemia: intermediate dose cytarabine (2 x 1 g/m2 on days 1, 3, and 5).

Purpose: High-dose intermittent cytarabine is an effective postremission treatment for patients with acute myeloid leukemia (AML). This regimen is a safe approach in patients < 60 years but produced severe neurotoxicity in the elderly.

Experimental Design: We have established a dose-reduced age-adapted consolidation using intermediate dose (IDAC; 2 x 1 g/m(2) i.

Splenic mastocytosis: report of two cases and detection of the transforming somatic C-KIT mutation D816V.

In the vast majority of patients with systemic mastocytosis (SM), the bone marrow is the primary extracutaneous site of disease. In addition to bone marrow involvement, other visceral organs such as the spleen, liver or the gastrointestinal tract, may also be affected. However, isolated involvement of a single extramedullary organ is rarely seen in SM.