scholarly journals Indolent Systemic Mastocytosis – a Case Report

2017 ◽  
Vol 9 (3) ◽  
pp. 129-133 ◽  
Author(s):  
Ljuba Vujanović ◽  
Marina Jovanović ◽  
Zoran Golušin ◽  
Olivera Levakov ◽  
Aleksandra Petrović ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Systemic Mastocytosis ◽  
Lower Limbs ◽  
Urticaria Pigmentosa ◽  
Gamma Glutamyl Transferase ◽  
Normal Ranges ◽  
Patient Reported ◽  
Glutamyl Transferase ◽  
Indolent Systemic Mastocytosis

Abstract Indolent systemic mastocytosis is a benign form of systemic mastocytosis characterized by an abnormal proliferation of mast cells either in the bone marrow or in numerous tissues. Case Report: A 27-year-old female patient was admitted to our department due to urticaria which started a month ago. Before the skin changes appeared, our patient suffered from a toothache, so she took various painkillers (nimesulide, ibuprofen, acetylsalicylic acid, paracetamol). During skin examination, individual hyperpigmented macules on the trunk and lower limbs were observed as incidental findings. The patient reported having them for the last two years. Darier's sign was positive. Following the examination, she was admitted due to suspected urticaria pigmentosa. Laboratory Findings: erythrocyte sedimentation rate: 9 mm/h; complete blood count, urine, blood glucose, total and direct bilirubin, aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transferase, urea, creatinine, and uric acid were within normal ranges. Electrolytes: sodium, potassium, chlorine clearance, total calcium and calcium ionized, osteocalcin, and crosslaps were within normal ranges as well. Fibrinogen: 5.57 g/l; 5-Hydroxyindoleacetic acid: 49.8 umol/dU (10.4 - 31.2). Bone densitometry, chest x-ray and upper abdomen ultrasound findings were normal. The suspected clinical diagnosis of urticaria pigmentosa was confirmed by skin biopsy. Histopathological examination of the bone marrow showed moderately increased cellularity (60 - 70%). All three types of blood cells were slightly multiplied. Focal infiltrations were found in the perivascular area, consisting of elongated, oval cells with abundant eosinophilic granular cytoplasm. The nuclei were regular, oval shaped with finely granular chromatin and inconspicuous nucleoli. No nuclear atypia was found. These cells are highly CD117-positive. This finding strongly indicated bone marrow infiltration in systemic mastocytosis. The diagnosis was based on ‘major’ and ‘minor’ diagnostic criteria. The recommended therapy included H1 and H2 antagonists and topical corticosteroids. Conclusion: Regular follow-up was recommended in order to prevent complications and malignant alterations.

Cerebellar atrophy supporting diagnosis of alcohol dependence: A case report

2016 ◽  
Vol 33 (S1) ◽  
pp. S311-S311
Author(s):  
F. Pavez Reyes ◽  
M. Sánchez ◽  
E. Moral ◽  
M. Terradillos ◽  
N. López ◽  
...  
Keyword(s):  
Case Report ◽  
Alcohol Dependence ◽  
Cerebellar Atrophy ◽  
Clinical Suspicion ◽  
Gamma Glutamyl Transferase ◽  
The Family ◽  
Other Information ◽  
Diagnostic Hypothesis ◽  
Competing Interest ◽  
Glutamyl Transferase

Chronic use of alcohol is a known cause of cerebellar atrophy. This finding could be a valuable diagnosis support when there are not other information sources. In this case report, we describe a 65-year-old male patient who was referred from primary care to specialized consultation because a depressive syndrome it was unresponsive to treatment with desvenlafaxine and lorazepam. In psychopathological exploration we found overvalued ideas of suffering some kind of injury and damage by the family, which oriented the diagnostic hypothesis of delusional disorder with secondary mood symptoms, although the clinical suspicion of abuse of alcohol was proposed as a differential diagnosis. The continuing minimization and denial of consumption by the patient as well as their reluctance to incorporate an external informant made that the workup was a key element to elucidate the diagnosis. We found a discrete increase in transaminases, gamma glutamyl transferase and alkaline phosphatase. Magnetic resonance imaging showed cerebellar atrophy (vermian and, in a lesser extent, in both hemispheres). Once the patient was confronted with these results, he agreed to disclose his problem, which fulfilled alcohol dependence criteria. After that, he accepted to initiate treatment and detoxification in a specialized unity.ConclusionsAlthough psychiatric diagnosis is based on the clinical features and the exclusion of associated medical conditions, in this case the workup provided support to our clinical suspicion, favouring recognition of the problem and willingness to treatment by the patient.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge

2019 ◽  
Vol 12 (4) ◽  
pp. e227768
Author(s):  
Daniel Steven Sanders ◽  
Thomas Fennell ◽  
Mohammad Muhsin Chisti
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Case Report ◽  
Systemic Mastocytosis ◽  
Molecular Testing ◽  
Bone Marrow Biopsies ◽  
Haematological Response ◽  
Clonal Origin ◽  
Mast Cell Population ◽  
5Q Deletion

A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for cKIT D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. MDS with SM is well known to be associated; however, to the best of our knowledge, only one prior case report identifies MDS with del(5q) and associated cKIT D816V positive mastocytosis. While the exact clonal origin of both chromosomal aberrations is unclear, this case illustrates the therapeutic efficacy of lenalidomide in a patient with MDS with del(5q) and rarely associated cKIT positive SM.

KIT D816V Mutation Positive Bone Marrow Mesenchymal Stem Cells in Indolent Systemic Mastocytosis Are Associated with Disease Progression

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4058-4058
Author(s):  
Andres C Garcia-Montero ◽  
Maria Jara-Acevedo ◽  
Ivan Alvarez-Twose ◽  
Cristina Teodosio ◽  
Laura Sanchez-Muñoz ◽  
...  
Keyword(s):  
Stem Cells ◽  
Bone Marrow ◽  
Mesenchymal Stem Cells ◽  
Disease Progression ◽  
X Chromosome ◽  
Conflicts Of Interest ◽  
Systemic Mastocytosis ◽  
Kit Mutation ◽  
Indolent Systemic Mastocytosis ◽  
Kit D816v

Abstract PURPOSE: Multilineageinvolvement of bone marrow (BM) hematopoiesis by the somatic KIT D816V mutation is present in a subset of adult indolent systemic mastocytosis (ISM) patients in association with a poorer prognosis. Here we investigated the potential involvement of BM mesenchymal stem cells (MSC) from ISM patients by the KIT D816V mutation and its potential impact on disease progression and outcome. METHODS: The KIT D816V mutation was investigated in highly-purified BM MSC and other BM cell populations from 83 ISM patients followed for a median of 116 months. MC clonality was further evaluated in female patients by the pattern of inactivation of the X chromosome (XCIP). RESULTS: KIT D816V-mutated MSC were detected in 22/83 (27%) ISM patients. All MSC-mutated patients had multilineage KIT mutation (100% vs. 30%, p=0.0001) and they more frequently showed involvement of lymphoid plus myeloid BM cells (59% vs 22%; P =.03) and a polyclonal XCIP of the KIT- mutated BM MC (64% vs 0%; P =0.01) vs other multilineage ISM cases. Moreover, presence of KIT D816V-mutated MSC was associated with more advanced disease features of ISM, a greater rate of disease progression (50% vs 17%; P =.04) and a shorter progression-free survival at 10, 20 and 30 years (P ≤.003). CONCLUSION: Overall, these results support the notion that ISM patients with mutated MSC may have acquired the KIT mutation in a common pluripotent progenitor cell, prior to differentiation into MSC and hematopoietic precursor cells, before the X-chromosome inactivation process occurs. From a clinical point of view, acquisition of the KIT mutation in an earlier BM precursor cell confers a significantly greater risk for disease progression and a poorer outcome. Disclosures No relevant conflicts of interest to declare.

scholarly journals Unusual Urticaria Pigmentosa in an Asian Man With Indolent Systemic Mastocytosis: A Case Report

2020 ◽  
Author(s):  
Chamard Wongsa ◽  
Mongkhon Sompornrattanaphan ◽  
Torpong Thongngarm ◽  
Weerapat Owattanapanich ◽  
Panitta Sitthinamsuwan ◽  
...  
Keyword(s):  
Skin Color ◽  
Systemic Mastocytosis ◽  
Early Recognition ◽  
Asian Population ◽  
Skin Lesions ◽  
Urticaria Pigmentosa ◽  
Careful Examination ◽  
Delay In Diagnosis ◽  
Ige Mediated ◽  
Indolent Systemic Mastocytosis

Abstract Background: The diagnosis of mastocytosis remains challenging. Given that the disease has a low prevalence and its clinical presentations range from asymptomatic to severe life-threatening conditions, physicians’ lack of awareness of mastocytosis is the main barrier to its diagnosis. Skin involvement is common. In adults, skin lesions are highly suggestive of systemic mastocytosis; however, clinical demonstration of lesions is difficult if they are minimal in number. In Asian, who had dark brown skin color, urticaria pigmentosa was not easy to identify. Here we present the case of indolent systemic mastocytosis with an unusual urticaria pigmentosa. Case presentation: A 48-year-old man had had recurrent severe honeybee anaphylaxis since he was 23. He had small, subtle, brownish skin lesions on his chest and abdomen, which he and previous physicians had not recognized. The skin lesions were compatible with urticaria pigmentosa, also known as maculopapular cutaneous mastocytosis. His clinical findings and an elevated baseline tryptase level triggered a thorough systemic mastocytosis investigation. The skin and bone marrow were infiltrated by abnormal, spindle-shaped mast cells, and KIT and TET2 mutations were in the patient’s serum. The honeybee anaphylaxis mechanism in this patient was IgE mediated, supported by a positive result of specific IgE to honeybee. The final diagnosis was indolent systemic mastocytosis with IgE-mediated honeybee anaphylaxis. As venom immunotherapy is unavailable in Thailand, we prescribed treatment with a regular, oral, nonsedating H1-antihistamine and an epinephrine self-injector. At the 2-year follow-up, the patient had not progressed to advanced systemic mastocytosis nor experienced any anaphylactic episodes.Conclusion: Urticaria pigmentosa is a small, round, brown, or red maculopapular lesion. In the Asian population with dark brown skin color, physician should be exclusively careful examination, particularly in a hidden area and in anaphylaxis cases. Early recognition of urticaria pigmentosa in the adult patient might reduce the delay in diagnosis of indolent systemic mastocytosis.

scholarly journals Commonly used clinical chemistry tests as mortality predictors: Results from two large cohort studies

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241558
Author(s):  
Lars Lind ◽  
Daniela Zanetti ◽  
Marieann Högman ◽  
Lars Sundman ◽  
Erik Ingelsson
Keyword(s):  
Risk Factors ◽  
Clinical Chemistry ◽  
Mortality Prediction ◽  
Gamma Glutamyl Transferase ◽  
Normal Range ◽  
Normal Ranges ◽  
All Cause Mortality ◽  
Glutamyl Transferase ◽  
Clinical Chemistry Tests

Background The normal ranges for clinical chemistry tests are usually defined by cut-offs given by the distribution in healthy individuals. This approach does however not indicate if individuals outside the normal range are more prone to disease. Methods We studied the associations and risk prediction of 11 plasma and serum biomarkers with all-cause mortality in two population-based cohorts: a Swedish cohort (X69) initiated in 1969, and the UK Biobank (UKB) initiated in 2006–2010, with up to 48- and 9-years follow-up, respectively. Results In X69 and in UKB, 18,529 and 425,264 individuals were investigated, respectively. During the follow-up time, 14,475 deaths occurred in X69 and 17,116 in UKB. All evaluated tests were associated with mortality in X69 (P<0.0001, except bilirubin P<0.005). For calcium, blood urea nitrogen, bilirubin, hematocrit, uric acid, and iron, U-shaped associations were seen (P<0.0001). For leukocyte count, gamma-glutamyl transferase, alkaline phosphatases and lactate dehydrogenase, linear positive associations were seen, while for albumin the association was negative. Similar associations were seen in UKB. Addition of all biomarkers to a model with classical risk factors improved mortality prediction (delta C-statistics: +0.009 in X69 and +0.023 in UKB, P<0.00001 in both cohorts). Conclusions Commonly used clinical chemistry tests were associated with all-cause mortality both in the medium- and long-term perspective, and improved mortality prediction beyond classical risk factors. Since both linear and U-shaped relationships were found, we propose to define the normal range of a clinical chemistry test based on its association with mortality, rather than from the distribution.

scholarly journals Indolent systemic mastocytosis limited to the bone: a case report and review of the literature

2013 ◽  
Vol 131 (3) ◽  
pp. 198-204 ◽  
Author(s):  
Pedro Pinto-Lopes ◽  
Francisco Adao Fonseca ◽  
Roberto Silva ◽  
Pedro von Hafe ◽  
Elsa Fonseca
Keyword(s):  
Case Report ◽  
Systemic Mastocytosis ◽  
Wide Spectrum ◽  
Myeloproliferative Neoplasm ◽  
Caucasian Woman ◽  
Review Of The Literature ◽  
Poor Overall Survival ◽  
Skeletal Changes ◽  
Indolent Disease ◽  
Indolent Systemic Mastocytosis

CONTEXT Systemic mastocytosis is defined as a clonal disorder of mast cells and their precursor cells and is currently classified as a myeloproliferative neoplasm. Its clinical course has a wide spectrum, ranging from indolent disease, with normal life expectancy, to highly aggressive disease, associated with multisystemic involvement and poor overall survival. The aim of this study was to report a case of indolent systemic mastocytosis, focusing on the diagnostic challenges, with a review of the literature. CASE REPORT A 79-year-old Caucasian woman with osteoporosis was evaluated at the Emergency Department because of complaints of low back pain. Before this, she had consulted an orthopedist and had undergone some imaging examinations, namely a bone scan that revealed a “superscan” pattern. Due to her pain complaints and these test results, the patient was admitted to the Department of Internal Medicine. After undergoing several analytical tests and some additional imaging examinations to rule out some important differential diagnoses, she then underwent bone marrow biopsy, which made it possible to identify indolent systemic mastocytosis. CONCLUSION Systemic mastocytosis is a rare entity that is difficult to diagnose. Its symptoms are often unspecific and frequently ignored. Skeletal changes may be the first and only manifestation of the disease and in some cases, like this one, the diagnosis is made only after histological examination. The key point for the diagnosis is to contemplate the possibility of systemic mastocytosis.

scholarly journals Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis

Haematologica ◽  
2010 ◽  
Vol 96 (3) ◽  
pp. 482-484 ◽  
Author(s):  
R. Zanotti ◽  
P. Bonadonna ◽  
M. Bonifacio ◽  
A. Artuso ◽  
D. Schena ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Systemic Mastocytosis ◽  
Indolent Systemic Mastocytosis

scholarly journals Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF©

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Fiona Taylor ◽  
Cem Akin ◽  
Roger E. Lamoureux ◽  
Brad Padilla ◽  
Tanya Green ◽  
...  
Keyword(s):  
Systemic Mastocytosis ◽  
Signs And Symptoms ◽  
Symptom Assessment ◽  
Patient Reported Outcome ◽  
Therapeutic Area ◽  
Cognitive Debriefing ◽  
Treatment Benefit ◽  
Patient Reported ◽  
Symptom Level ◽  
Indolent Systemic Mastocytosis

Abstract Background Advanced systemic mastocytosis (AdvSM), indolent systemic mastocytosis (ISM), and smoldering systemic mastocytosis (SSM) are rare diseases characterized by neoplastic mast cell infiltration of more than one organ. A content-valid patient-reported outcome (PRO) questionnaire that assesses relevant signs and symptoms that are important and understandable to individuals with a condition is critical for assessing new treatment benefit as well as supporting product labeling claims. Notably, no such PRO questionnaire has been developed in accordance with regulatory and scientific guidelines for use in AdvSM, ISM, and SSM patient populations. To fill that gap, this study documents the development and content validity of instruments evaluating signs and symptoms of systemic mastocytosis. Methods A review of peer-reviewed literature, advice meetings with clinical therapeutic area experts, patient concept elicitation interviews, concept selection and questionnaire construction meetings, and patient cognitive debriefing interviews were conducted, and regulatory feedback was incorporated. Results For AdvSM, 26 sign- and symptom-level concepts were identified in literature, 39 by clinicians, and 33 by patients. For ISM/SSM, 38 sign- and symptom-level concepts were identified in the literature, 39 by clinicians, and 57 by patients. Two patient-reported instruments, the Advanced Systemic Mastocytosis Symptom Assessment Form (AdvSM-SAF) and Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF)(©Blueprint Medicines Corporation), were developed based on consolidated findings. Cognitive debriefing interviews with AdvSM and ISM patients showed the AdvSM-SAF and ISM-SAF were understood and interpreted as intended by the majority of patients. Conclusion The AdvSM-SAF and ISM-SAF are content-valid tools measuring symptoms from AdvSM and ISM patients’ perspective.

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