scholarly journals A rare case of asymptomatic solitary cutaneous mastocytoma in a child

2021 ◽  
pp. 477-479
Author(s):  
Sonam Jain ◽  
Saumya Nanda ◽  
Malvika Shastri ◽  
Divya Sethi
Keyword(s):  
Mast Cells ◽  
Young Child ◽  
Rare Case ◽  
Systemic Mastocytosis ◽  
Cutaneous Lesion ◽  
Anterior Chest Wall ◽  
Rare Tumor ◽  
Internal Organs ◽  
Cutaneous Nodule ◽  
Rare Group

Mastocytosis is a rare group of disorders occurring when mast cells diffusely infiltrate the skin or internal organs. It has two forms: Cutaneous and systemic mastocytosis. We present a case of a 12-year-old male child presenting with a reddish-brown cutaneous nodule on the anterior chest wall for 1 month. No other similar lesions were noted elsewhere. Routine hematological and radiological investigations did not reveal any abnormality. The lesion was excised, and a diagnosis of solitary cutaneous mastocytoma was made based on the clinical, histopathological, and immunohistochemical features. This case highlights the importance of diagnosing this rare tumor which can present as an asymptomatic cutaneous lesion in a young child.

scholarly journals Indolent systemic mastocytosis or just ‘atypical enterocolic mast cell aggregates’?

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S56-S56
Author(s):  
U Edema ◽  
Y Fang ◽  
L Qiang ◽  
Y Huang
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Case Reports ◽  
Cutaneous Lesion ◽  
Cell Aggregates ◽  
Kit Mutation ◽  
Who Criteria ◽  
Systemic Involvement

Abstract Introduction/Objective Mastocytosis is a rare disease in which there are abnormal mast cell accumulation in one or more tissue sites. Multifocal dense mast cell aggregates with atypical morphology or immunohistochemistry are considered as systemic mastocytosis (SM) based on WHO criteria. SM usually involves bone marrow and majority of them also have KIT mutation. There are rare case reports of atypical enterocolic mast cell aggregates (EMCA) confined to gastrointestinal (GI) only with mild or no symptoms. Here we present a case with extensive atypical mast cell aggregates in lower GI tract yet no evidence of involvement of other organs. Methods/Case Report A 34-year-old woman presented with abdominal bloating, diarrhea along with pruritis but no cutaneous lesion. Biopsies from the ascending and descending colons, caecum and rectum consistently showed increased eosinophils and multifocal infiltrates of atypical spindle shaped mast cells which are positive for CD117/tryptase but negative for CD2 and CD25. This is consistent with SM by WHO criteria based on morphology. Bone marrow biopsy showed normal amount of mast cells with normal morphology. Upper gastrointestinal biopsy was unremarkable. Serum tryptase level was normal. No KIT mutation was detected in exon 9, 11, 13 or 17 from colonic mucosa. Patient has been treated with antihistamine and Montelukast and symptoms resolved. Results (if a Case Study enter NA) N/A Conclusion This case met the criteria of SM based on the presence of multifocal mast cell aggregates and atypical spindle morphology >25%. Johncilla et al. previously reported 16 cases of EMCA with atypical morphology or immunohistochemistry, absent to mild localized symptoms, and negative KIT mutation. Based on lack of generalized disease, the authors preferred using descriptive terminology instead of ‘systemic mastocytosis’ for those cases. Our case has broader involvement of lower gastrointestinal tract than any reported case and the patient needs treatment for the symptoms. However, there is no ‘systemic’ involvement of bone marrow or any other organ. The diagnosis of ‘Systemic Mastocytosis’ would cause potential confusion and/or unnecessary anxiety. Further study of more cases is needed to better characterize and categorize the cases of atypical mast cell aggregates localized only to the GI.

scholarly journals Efficacy of Omalizumab in Indolent Systemic Mastocytosis

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Calum Slapnicar ◽  
Martina Trinkaus ◽  
Lisa Hicks ◽  
Peter Vadas
Keyword(s):  
Mast Cells ◽  
Allergic Asthma ◽  
Retrospective Analysis ◽  
Chronic Urticaria ◽  
Systemic Mastocytosis ◽  
Heterogeneous Group ◽  
Internal Organs ◽  
Indolent Systemic Mastocytosis

Background. Systemic mastocytosis (SM) comprises a heterogeneous group of disorders characterized by the proliferation of clonal mast cells in skin and various internal organs. Omalizumab is an established, labelled therapy for allergic asthma and chronic urticaria, but its experience in the efficacy of SM is limited. Methods. A retrospective analysis of 6 patients diagnosed with indolent SM treated with omalizumab at St. Michael’s Hospital between 2009 and 2018 is described. Reported frequency of anaphylaxis, baseline and follow-up tryptase levels, and SM-related symptoms were captured to measure the control of the disease. Results. Of the 5 patients who had experienced unprovoked anaphylaxis prior to treatment with omalizumab, 3 had no further episodes of anaphylaxis following initiation of omalizumab, while the remaining 2 patients had milder multisystem reactions. Significant improvement in cutaneous symptoms was also observed. Conclusion. These data suggest that omalizumab provides benefit to patients with SM who remain highly symptomatic in spite of treatment with conventional therapies.

scholarly journals Systemic Mastocytosis With Features of Chronic Liver Disease, Proptosis and Itchy Hyper-Pigmented Skin Lesion

KYAMC Journal ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 50-53
Author(s):  
Md Benzamin ◽  
Md Rafiqul Islam ◽  
Mukesh Khadga ◽  
Fahmida Begum ◽  
Wahiduzzaman Mazumder ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Liver Disease ◽  
Mast Cells ◽  
Skin Lesion ◽  
Chronic Liver Disease ◽  
Systemic Mastocytosis ◽  
Chronic Liver ◽  
Rare Entity ◽  
Internal Organs ◽  
Small Intestines

Mastocytosisis a rare disorder of functionally defective mast cells. Infiltration of this functionally defective mast cells and CD34+ mast cell precursors in various organ leads to clinical manifestation. Skin is the most common affected organ. In systemic mastocytosis along with skin, internal organs such as the liver, spleen, bone marrow, small intestines and eye also involve. Diagnosis is done on the basis of WHO diagnostic criteria. Here we presenting this rare entity presented to us with features of chronic liver disease, proptosis and itchy hyperpigmented skin lesion diagnosed as systemic mastocytosis. KYAMC Journal Vol. 11, No.-1, April 2020, Page 50-53

PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects

Blood ◽  
2006 ◽  
Vol 107 (2) ◽  
pp. 752-759 ◽  
Author(s):  
Karoline V. Gleixner ◽  
Matthias Mayerhofer ◽  
Karl J. Aichberger ◽  
Sophia Derdak ◽  
Karoline Sonneck ◽  
...  
Keyword(s):  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Drug Effects ◽  
Kit Mutation ◽  
Growth Inhibitory ◽  
Ic50 Values ◽  
Tk Inhibitors ◽  
Mast Cell Leukemia ◽  
Kit D816v

AbstractIn most patients with systemic mastocytosis (SM), including aggressive SM and mast cell leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V. KIT D816V is associated with constitutive tyrosine kinase (TK) activity and thus represents an attractive drug target. However, imatinib and most other TK inhibitors fail to block the TK activity of KIT D816V. We show that the novel TK-targeting drugs PKC412 and AMN107 counteract TK activity of D816V KIT and inhibit the growth of Ba/F3 cells with doxycycline-inducible expression of KIT D816V as well as the growth of primary neoplastic mast cells and HMC-1 cells harboring this KIT mutation. PKC412 was a superior agent with median inhibitory concentration (IC50) values of 50 to 250 nM without differences seen between HMC-1 cells exhibiting or lacking KIT D816V. By contrast, AMN107 exhibited more potent effects in KIT D816V- HMC-1 cells. Corresponding results were obtained with Ba/F3 cells exhibiting wild-type or D816V-mutated KIT. The growth-inhibitory effects of PKC412 and AMN107 on HMC-1 cells were associated with induction of apoptosis and down-regulation of CD2 and CD63. PKC412 was found to cooperate with AMN107, imatinib, and cladribine (2CdA) in producing growth inhibition in HMC-1, but synergistic drug interactions were observed only in cells lacking KIT D816V. Together, PKC412 and AMN107 represent promising novel agents for targeted therapy of SM. (Blood. 2006;107: 752-759)

scholarly journals Are Gastrointestinal Mucosal Mast Cells Increased in Patients With Systemic Mastocytosis?

2004 ◽  
Vol 122 (4) ◽  
pp. 560-565 ◽  
Author(s):  
Sabine I. Siegert ◽  
Joachim Diebold ◽  
Dagmar Ludolph-Hauser ◽  
Udo Löhrs
Keyword(s):  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Mucosal Mast Cells

Vascular Endothelial Growth Factors and Angiopoietins As New Players in Mastocytosis

2021 ◽  
Author(s):  
Simone Marcella ◽  
Angelica Petraroli ◽  
Mariantonia Braile ◽  
Roberta Parente ◽  
Anne Lise Ferrara ◽  
...  
Keyword(s):  
Growth Factors ◽  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Vascular Endothelial Growth Factors ◽  
Vascular Endothelial ◽  
Serum Concentrations ◽  
Kit Receptor ◽  
Clinical Variants ◽  
Endothelial Growth Factors ◽  
Kit D816v

Abstract Mastocytosis is a disorder characterized by the abnormal proliferation and/or accumulation of mast cells in different organs. More than 90% of patients with systemic mastocytosis have a gain-of-function mutation in codon 816 of the KIT receptor on mast cells (MCs). The symptoms of mastocytosis patients are related to the MC-derived mediators that exert local and distant effects. MCs produce angiogenic and lymphangiogenic factors, including vascular endothelial growth factors (VEGFs) and angiopoietins (ANGPTs). Serum concentrations of VEGF-A, VEGF-C, VEGF-D, ANGPT1 and ANGPT2 were determined in 64 mastocytosis patients and 64 healthy controls. Intracellular concentrations and spontaneous release of these mediators were evaluated in the mast cell lines ROSAKIT WT and ROSA KIT D816V and in human lung mast cells (HLMCs). VEGF-A, ANGPT1, ANGPT2 and VEGF-C concentrations were higher in mastocytosis patients compared to controls. The VEGF-A, ANGPT2 and VEGF-C concentrations were correlated with the symptom severity. ANGPT1 concentrations were increased in all patients compared to controls. ANGPT2 levels were correlated with severity of clinical variants and with tryptase levels. VEGF-A, ANGPT1 and VEGF-C did not differ between indolent and advanced mastocytosis. ROSAKIT WT, ROSAKIT D816V and HLMCs contained and spontaneously released VEGFs and ANGPTs. Serum concentrations of VEGFs and ANGPTs are altered in mastocytosis patients.

scholarly journals Malignant Mesenchymal Renal Tumor: A Rare Case of Primary Renal Fibrosarcoma

2013 ◽  
Vol 3 ◽  
pp. 52 ◽  
Author(s):  
Madanmohan Gupta ◽  
Nandini U. Bahri ◽  
Pankaj Watal ◽  
Shilpa L. Chudasama ◽  
Swetang G. Brahmbhatt ◽  
...  
Keyword(s):  
Rare Case ◽  
Renal Mass ◽  
Renal Tumor ◽  
Abdominal Discomfort ◽  
Renal Neoplasms ◽  
Cross Sectional ◽  
Elderly Female ◽  
Mesenchymal Neoplasms ◽  
Cross Sectional Imaging ◽  
Rare Group

Malignant mesenchymal neoplasms of kidney constitute a rare group of tumors. Primary fibrosarcoma of kidney is an extremely rare subtype of primary malignant mesenchymal renal neoplasms. An elderly female presented with a gradually increasing abdominal lump and mild abdominal discomfort. On cross-sectional imaging, the lesion showed features suggestive of an atypical renal mass not conforming to either ball or bean type growth pattern. The mass was surgically removed and on histopathological and immunohistological investigations diagnosed to be primary renal fibrosarcoma.

scholarly journals A Solitary Ventral Scapular Osteochondroma causing Pseudo-winging of Scapula: A Case Report

2021 ◽  
Vol 11 (7) ◽  
Author(s):  
Eknath Pawar ◽  
Nihar Modi ◽  
Amit Kumar Yadav ◽  
Jayesh Mhatre ◽  
Sachin Khemkar ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Soft Tissue ◽  
Young Child ◽  
Chest Wall ◽  
Rare Case ◽  
Rare Presentation ◽  
Medial Border ◽  
Soft Tissue Masses ◽  
Scapular Region

Introduction: Winging of scapula is defined as a failure of dynamic stabilizing structures that anchor the scapula to the chest wall, leading to prominence of the medial border of scapula. It could be primary, secondary, or voluntary. Primary winging could be true winging due to neuromuscular causes or pseudo-winging due to osseous or soft-tissue masses. A scapular osteochondroma is a very rare presentation site and causes pseudo-winging leading to pushing away of the scapula away from the chest wall presenting as medial border prominence. Here, we are reporting a rare case of a scapular osteochondroma causing a pseudo-winging of the scapula. Case Report: A 2-year-old male child presented with painless, immobile, and non-fluctuant swelling over the left scapular region, insidious in onset and progressive in nature. On examination, a non-tender, immobile swelling was palpable with a painless and unrestricted range of motion at the shoulder joint. After evaluating radiographs and CT scan, the patient was diagnosed to have a ventral scapular osteochondroma leading to pseudo-winging of the scapula. Conclusion: Despite the rarity, a differential diagnosis of a scapular osteochondroma should be kept in mind while examining a young child presenting with a winged scapula. Keywords: Scapula, osteochondroma, pseudo-winging.

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