scholarly journals SYSTEMIC MASTOCYTOSIS: RADIOLOGICAL POINT OF VIEW

2021 ◽  
Vol 13 (1) ◽  
pp. e2021056
Author(s):  
ANTONIO LEONE ◽  
SILVIA MACAGNINO ◽  
GIULIA D'AMBRA ◽  
DANIELE PERLA
Keyword(s):  
Systemic Mastocytosis ◽  
Correct Diagnosis ◽  
Disease Diagnosis ◽  
Point Of View ◽  
Histological Evaluation ◽  
Team Approach ◽  
Skeletal Involvement ◽  
Radiological Features ◽  
Bone Marrow Trephine Biopsy ◽  
Organ Systems

Radiological diagnosis of systemic mastocytosis (SM) can be hard to establish. This is mainly due to the variable radiological features involving many organ systems (e.g., respiratory, cardiovascular, lympho-reticular, digestive systems, and most commonly skin), and the broad spectrum of skeletal findings, in particular. Skeletal involvement is the most common and prominent imaging feature in patients with SM and represents a prognostic factor as it may entail an aggressive course of the disease. Diagnosis, which is largely established by histological evaluation of a bone marrow trephine biopsy specimen supplemented by imaging modalities such as radiography, CT, and magnetic resonance imaging, requires a team approach between the hematologist, radiologist, and pathologist. The general radiologist needs to be familiar with the imaging findings because they may be the first to suggest the correct diagnosis. The primary purposes of this article were to equip clinicians with pertinent radiological semiotics and present relevant radiological features that assist early diagnosis and selection of an effective treatment.

scholarly journals Cardiothoracic manifestations of Erdheim-Chester disease

2019 ◽  
Vol 92 (1104) ◽  
pp. 20190473 ◽  
Author(s):  
Jeeban Paul Das ◽  
Lola Xie ◽  
Chris C Riedl ◽  
Sara A Hayes ◽  
Michelle S Ginsberg ◽  
...  
Keyword(s):  
Systemic Disease ◽  
Disease Diagnosis ◽  
Imaging Features ◽  
Cross Sectional ◽  
Skeletal Involvement ◽  
Erdheim Chester Disease ◽  
Contrast Enhanced Ct ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis which can have a broad range of clinical and radiological presentations. Typically, ECD affects multiple organ systems, with skeletal involvement present in almost all ECD patients and cardiothoracic manifestations in more than half. Cardiac and thoracic involvement contributes significantly to morbidity and mortality in affected patients and may have prognostic implications. The diagnosis of ECD can be challenging due to its rarity and similarity to other systemic disease processes. Although the diagnosis can be suggested on imaging, histopathology and immunohistochemistry are required for confirmation. We describe the multimodal imaging features of mediastinal, cardiac, pleural and lung parenchymal ECD. This review identifies the most common radiological manifestations of cardiac and thoracic ECD on contrast-enhanced CT, fluorine18-fludeoxyglucose positron emission tomography/CT and cardiac MRI, and highlights the role of these cross-sectional techniques in disease diagnosis.

scholarly journals New Insights into the Pathogenesis of Systemic Mastocytosis

2021 ◽  
Vol 22 (9) ◽  
pp. 4900
Author(s):  
Zhixiong Li
Keyword(s):  
Molecular Mechanisms ◽  
Kinase Inhibitor ◽  
Systemic Mastocytosis ◽  
Treatment Strategies ◽  
The United States ◽  
European Medicines Agency ◽  
Myeloid Neoplasm ◽  
Organ Systems ◽  
United States Food ◽  
Kit D816v

Mastocytosis is a type of myeloid neoplasm characterized by the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells that infiltrate one or more organ systems. Systemic mastocytosis (SM) is a more aggressive variant of mastocytosis with extracutaneous involvement, which might be associated with multi-organ dysfunction or failure and shortened survival. Over 80% of patients with SM carry the KIT D816V mutation. However, the KIT D816V mutation serves as a weak oncogene and appears to be a late event in the pathogenesis of mastocytosis. The management of SM is highly individualized and was largely palliative for patients without a targeted form of therapy in past decades. Targeted therapy with midostaurin, a multiple kinase inhibitor that inhibits KIT, has demonstrated efficacy in patients with advanced SM. This led to the recent approval of midostaurin by the United States Food and Drug Administration and European Medicines Agency. However, the overall survival of patients treated with midostaurin remains unsatisfactory. The identification of genetic and epigenetic alterations and understanding their interactions and the molecular mechanisms involved in mastocytosis is necessary to develop rationally targeted therapeutic strategies. This review briefly summarizes recent developments in the understanding of SM pathogenesis and potential treatment strategies for patients with SM.

scholarly journals A Reliable Surgical Procedure for Sinus Floor Augmentation with Antral Pseudocysts

2021 ◽  
Vol 9 (10) ◽  
pp. 122
Author(s):  
Yasuhiro Nosaka ◽  
Hitomi Nosaka ◽  
Yasushi Nakajima ◽  
Tadasuke Tanioka ◽  
Daniele Botticelli ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Correct Diagnosis ◽  
Inflammatory Cells ◽  
Histological Evaluation ◽  
Histopathological Diagnosis ◽  
Cystic Lesions ◽  
Two Stage ◽  
Asymptomatic Patients ◽  
Sinus Floor Augmentation ◽  
Sinus Floor

An antral pseudocyst (AP) is a common well-defined ‘dome-shaped’ faintly radiopaque lesion of the maxillary sinus, and usually does not require treatment in asymptomatic patients. However, when sinus floor augmentation is required to increase bone volume for implant installation, the elevation of the sinus mucosa might drive the AP against the ostium. This might cause its obstruction and, as possible consequence, sinusitis. The purpose of this study was to investigate the clinical and tomographic conditions of APs to identify a predictable cyst removal that might allow a safety sinus floor augmentation. A total of 52 maxillary sinuses in 46 patients (mean age 55.1 years) presenting AP were examined by cone beam computed tomographies (CBCTs). A two-stage approach was applied. At the first surgery, the cystic lesions were further inspected by an endoscope through the antrostomy, and histopathological diagnosis of the removed tissues was carried out. After the confirmation of decrease of the swelling of sinus membrane by CBCT, the sinus floor augmentation was performed, at least four months after cyst removal. The color and transparency of the 86 cystic lesions were classified into 4 types. The whitish transparent cysts were 34 (39.5%), the yellowish transparent cysts were 18 (20.9%), the dark purple transparent cysts were 8 (9.3%) and the milky-white opaque cysts were 26 (30.2%). The contents of the 60 (69.8%) transparent cysts were serous fluid, but those of milky-white cysts were composed of viscous or elastic soft tissues, and the aspiration of the contents was unsuccessful. The analysis of the preoperative CBCT did not provide certainty on the contents of the cystic lesions. All cystic lesions were diagnosed as AP, and an infection was identified in one AP, presenting marked infiltration of the inflammatory cells. Considering the difficulties of performing a correct diagnosis of the AP content by a CBCT analysis, the risk of failure of the surgery that creates severe afflictions to the patients, and the necessity of a histological evaluation of the cyst, a two-stage surgery appeared to be the most reliable procedure.

scholarly journals Place of cytology in the diagnosis of systemic mastocytosis: A case report

2021 ◽  
Vol 7 (2) ◽  
pp. 01-05
Author(s):  
W. Quiddi ◽  
H. Boumaazi ◽  
S. Ed-dyb ◽  
H. Yahyaoui ◽  
M. Aitameur ◽  
...  
Keyword(s):  
Mast Cells ◽  
Hematological Malignancies ◽  
Systemic Mastocytosis ◽  
Bone Marrow Involvement ◽  
Acute Leukemias ◽  
Activating Mutations ◽  
Myeloid Neoplasms ◽  
Organ Systems ◽  
Cutaneous Mastocytosis

Mastocytosis is a heterogeneous group of rare diseases related to the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells, that accumulate in one or more organ systems. Their pathophysiology is dominated by activating mutations in C-Kit (Stem Cell Factor receptor). Several pathological forms have been described ranging from isolated cutaneous mastocytosis affecting mainly children, to aggressive systemic mastocytosis described mainly in adults with bone marrow involvement. According to the WHO 2016 classification of hematological malignancies, systemic mastocytosis appear as a new entity of "myeloid neoplasms and acute leukemias" that combines cytology (abnormal mast cells) with other genetic and molecular criteria. We describe through this observation the practical side of hematological cytology in the diagnostic orientation of this serious, rare and underestimated pathology.

scholarly journals Adenomatoid Hyperplasia of The Oral Cavity: A Diagnostic Dilemma

2021 ◽  
Author(s):  
Ali ALTINDAĞ ◽  
Poyzan Bozkurt ◽  
Burak Bilecenoğlu ◽  
Kaan Orhan
Keyword(s):  
Oral Cavity ◽  
Correct Diagnosis ◽  
Age Distribution ◽  
Salivary Gland Tumor ◽  
Histological Evaluation ◽  
Gland Tumor ◽  
Diagnostic Dilemma ◽  
Location Data ◽  
Wide Range ◽  
Review Study

This review study presents literature review and discusses the clinical significance of Adenomatoid Hyperplasia, a commonly misdiagnosed lesion. This rare entity has been seldom presented and is not well enough described in the literature. Only 15 reports with 95 cases could be attained during the online literature search using the keywords: Adenomatoid, Tumor, Hyperplasia, Minor salivary Glands. Data revealed a tendency towards the male gender. Age distribution of patients did not reveal a tendency towards a specific age group but presented a peak incidence in the 4th and 5th decades. Location data revealed a tendency towards the palate, especially the hard palate. Most of the presented cases were asymptomatic and the most common initial diagnosis made was salivary gland tumor. It was concluded that, adenomatoid hyperplasia of the oral cavity may resemble a wide range of pathologies and in order to differentiate and to achieve a correct diagnosis, histological evaluation is fundamental.

scholarly journals The Efficacy of Cladribine (2-CdA) in Advanced Systemic Mastocytosis

2020 ◽  
Vol 36 (4) ◽  
pp. 661-666 ◽  
Author(s):  
Grzegorz Helbig ◽  
Anna Koclęga ◽  
Władysław B. Gaweł ◽  
Martyna Włodarczyk ◽  
Marek Rodzaj ◽  
...  
Keyword(s):  
Overall Response Rate ◽  
Response Rate ◽  
Systemic Mastocytosis ◽  
Median Number ◽  
Hemoglobin Level ◽  
Median Dose ◽  
Skeletal Involvement ◽  
Duration Of Response ◽  
Hematological Neoplasm ◽  
Number Of Cycles

Abstract Systemic mastocytosis (SM) is a rare clonal disorder with multi-organ involvements and shortened life expectancy. To date, no curative treatment for SM exists. Cladribine (2-CdA) is a purine analogue showing activity against neoplastic mast cells and its use was found to be effective in some patients with SM. Nine patients (six males and three females) with advanced SM at median age of 63 years (range 33–67) who received at least one course of 2-CdA were included in a retrospective analysis. Study patients were classified as having aggressive SM (ASM; n = 7) and SM with an associated hematological neoplasm (SM-AHN; n = 2). The “C” findings were as follows: (1) absolute neutrophil count (ANC) < 1 × 109/l (n = 1) and/or hemoglobin level < 10 g/dl (n = 4) and/or platelet count < 100 × 109/l (n = 4); (2) hepatomegaly with ascites (n = 4); (3) skeletal involvement (n = 2); (4) palpable splenomegaly with hypersplenism (n = 3) and (5) malabsorption with weight loss (n = 5). Treatment consisted of 2-CdA at dose 0.14 mg/kg/day intravenously over a 2-h infusion for 5 consecutive days. Median dose per cycle was 45 mg (range 35–60). Median number of cycles was 6 (range 1–7). Overall response rate (ORR) was 66% (6/9 pts) including three partial responses and three clinical improvements. ORR was 100% and 66% for SM-AHN and ASM, respectively. Median duration of response was 1.98 years (range 0.2–11.2). At the last contact, five patients died, four have little disease activity, but remain treatment- free. 2-CdA seems to be beneficial in some patients with SM, however the response is incomplete.

scholarly journals Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches

2019 ◽  
Vol 20 (12) ◽  
pp. 2976 ◽  
Author(s):  
Peter Valent ◽  
Cem Akin ◽  
Karoline V. Gleixner ◽  
Wolfgang R. Sperr ◽  
Andreas Reiter ◽  
...  
Keyword(s):  
Mast Cell ◽  
Personalized Medicine ◽  
Current Knowledge ◽  
Systemic Mastocytosis ◽  
Daily Practice ◽  
World Health ◽  
Survival Times ◽  
Tryptase Level ◽  
Organ Systems ◽  
Health Organization

Mastocytosis is a hematopoietic neoplasm defined by abnormal expansion and focal accumulation of clonal tissue mast cells in various organ-systems. The disease exhibits a complex pathology and an equally complex clinical behavior. The classification of the World Health Organization (WHO) divides mastocytosis into cutaneous forms, systemic variants, and localized mast cell tumors. In >80% of patients with systemic mastocytosis (SM), a somatic point mutation in KIT at codon 816 is found. Whereas patients with indolent forms of the disease have a normal or near-normal life expectancy, patients with advanced mast cell neoplasms, including aggressive SM and mast cell leukemia, have a poor prognosis with short survival times. In a majority of these patients, multiple somatic mutations and/or an associated hematologic neoplasm, such as a myeloid leukemia, may be detected. Independent of the category of mastocytosis and the serum tryptase level, patients may suffer from mediator-related symptoms and/or osteopathy. Depending on the presence of co-morbidities, the symptomatology in such patients may be mild, severe or even life-threatening. Most relevant co-morbidities in such patients are IgE-dependent allergies, psychiatric, psychological or mental problems, and vitamin D deficiency. The diagnosis and management of mastocytosis is an emerging challenge in clinical practice and requires vast knowledge, a multidisciplinary approach, and personalized medicine procedures. In this article, the current knowledge about mastocytosis is reviewed with special emphasis on the multidisciplinary aspects of the disease and related challenges in daily practice.

scholarly journals Perioperative Optimization of Patients With Neuromuscular Disorders Undergoing Scoliosis Corrective Surgery: A Multidisciplinary Team Approach

2020 ◽  
pp. 219256822090169
Author(s):  
Fady Sedra ◽  
Roozbeh Shafafy ◽  
Ahmed-Ramadan Sadek ◽  
Syed Aftab ◽  
Alexander Montgomery ◽  
...  
Keyword(s):  
Treatment Plan ◽  
Neuromuscular Disorders ◽  
Multiple Organ ◽  
Neuromuscular Scoliosis ◽  
High Rate ◽  
Wound Complications ◽  
Team Approach ◽  
Corrective Surgery ◽  
Organ Systems ◽  
Respiratory Management

Study Design: Narrative review. Objective: The high rate of complications associated with the surgical management of neuromuscular spinal deformities is well documented in the literature. This is attributed to attenuated protective physiological responses in multiple organ systems. Methods: Review and synthesis of the literature pertaining to optimization of patients with neuromuscular scoliosis undergoing surgery. Our institutional practice in the perioperative assessment and management of neuromuscular scoliosis is also described along with a clinical vignette. Results: Respiratory complications are the most common to occur following surgery for neuromuscular disorders. Other categories include gastrointestinal, cardiac, genitourinary, blood loss, and wound complications. A multidisciplinary approach is required for perioperative optimization of these patients and numerous strategies are described, including respiratory management. Conclusion: Perioperative optimization for patients with neuromuscular disorders undergoing corrective surgery for spinal deformity is multifaceted and complex. It requires a multidisciplinary evidence-based approach. Preadmission of patients in advance of surgery for assessment and optimization may be required in certain instances to identify key concerns and formulate a tailored treatment plan.

Polypoid intranasal mass caused by Rosai–Dorfman disease: a diagnostic pitfall

2009 ◽  
Vol 124 (3) ◽  
pp. 345-348 ◽  
Author(s):  
M Ilie ◽  
N Guevara ◽  
L Castillo ◽  
P Hofman
Keyword(s):  
Correct Diagnosis ◽  
Disease Process ◽  
Immunohistochemical Analysis ◽  
Antigen Expression ◽  
Extranodal Involvement ◽  
Microscopic Appearance ◽  
Radiological Features ◽  
Diagnostic Pitfall ◽  
Rosai Dorfman Disease ◽  
Neoplastic Disorders

AbstractBackground:Rosai–Dorfman disease is a rare, idiopathic, histiocytic proliferative disorder with a distinctive microscopic appearance, which was formerly thought to be a disease process limited to lymph nodes. However, extranodal involvement has been documented in less than half of the reported patients, but rarely without associated lymphadenopathy.Case report:We report the case of a 43-year-old Senegalese woman who presented with a polypoid, intranasal mass caused by Rosai–Dorfman disease. A diagnosis of a granulomatous process, including rhinoscleroma, was initially discussed. The correct diagnosis was made histologically by demonstrating aggregates of histiocytes with large amounts of cytoplasm, emperipolesis and protein S100 antigen expression. Despite using ancillary methods (molecular biology and electron microscopy), we failed to demonstrate any associated pathogen.Conclusion:Diagnosis of Rosai–Dorfman disease can be very difficult, in particular in adults from Africa with pure, isolated, intranasal localisation, in whom clinical and radiological features may mimic other infectious or neoplastic disorders. The diagnosis is made based on the histological presence of large histiocytes with lymphophagocytosis. Moreover, immunohistochemical analysis of these histiocytes using anti-protein S100 antibody shows strong positivity.

scholarly journals Clinical Solutions: Factors and Problematic Situations from the Perspective of Doctors in a Large Russian City

2020 ◽  
Vol 26 (3) ◽  
pp. 114-147
Author(s):  
Anna S. Gotlib ◽  
Vitaly L. Lekhtsier
Keyword(s):  
Medical Decision Making ◽  
Disease Diagnosis ◽  
Point Of View ◽  
Medical Decision ◽  
Clinical Decisions ◽  
Integral Index ◽  
Specific Patient ◽  
Medical Clinics ◽  
Medical Institutions ◽  
Problematic Situations

This article focuses on the main results of a quantitative empirical study of clinical decisions made by doctors in medical institutions of various profiles in a large Russian city. The study was conducted in 2019 and is based on the results of the previous qualitative analysis stage — within the research “mix-strategy”. The main point of analytical interest is the factors which influence the doctors’ clinical decisions in two basic clinical situations — in the situation of disease diagnosis and in the situation of treatment prescription. The object of the research was doctors from Samara medical clinics. Factors and decisions made by doctors were studied from the point of view of doctors themselves. The degree of influence of each factor on the decisions made by doctors was assessed with the help of the Influence Index, an integral index on a fully ordered scale. The article presents a hierarchy of factors influencing medical decision-making in diagnosis and treatment situations; the top group of factors in both situations is identified and interpreted. At the same time, additional problematic situations were studied in the research. In particular, the range of clinical decisions and factors determining them, in case of it being necessary to conduct an examination not provided by standard state medical care, in a situation when this examination is provided, but the limit of prescriptions is exhausted, in a situation when the medical institution (hospital) does not have the best quality medication for the patient in the quantities needed, in a situation when the state standard on a specific nosology is ineffective for a specific patient, as well as other problematic situations.

Sign in / Sign up

Export Citation Format

Share Document