scholarly journals Inflammatory myofibroblastic tumours: where are we now?

2007 ◽  
Vol 61 (4) ◽  
pp. 428-437 ◽  
Author(s):  
B C Gleason ◽  
J L Hornick
Keyword(s):  
Soft Tissues ◽  
Spindle Cell ◽  
Molecular Genetic ◽  
Young Patients ◽  
Chromosomal Translocations ◽  
Inflammatory Pseudotumour ◽  
Molecular Features ◽  
Generic Term ◽  
Spindle Cell Proliferation ◽  
Genetic Features

Inflammatory pseudotumour is a generic term applied to a variety of neoplastic and non-neoplastic entities that share a common histological appearance, namely a cytologically bland spindle cell proliferation with a prominent, usually chronic inflammatory infiltrate. Over the last two decades, inflammatory myofibroblastic tumour (IMT) has emerged from within the broad category of inflammatory pseudotumour, with distinctive clinical, pathological and molecular features. IMT shows a predilection for the visceral soft tissues of children and adolescents and has a tendency for local recurrence, but only a small risk of distant metastasis. Characteristic histological patterns include the fasciitis-like, compact spindle cell and hypocellular fibrous patterns, which are often seen in combination within the same tumour. Chromosomal translocations leading to activation of the ALK tyrosine kinase can be detected in approximately 50% of IMTs, particularly those arising in young patients. This review will examine the clinical, pathological, and molecular genetic features of IMT and discuss an approach to diagnosis and differential diagnosis.

Hyalinizing Spindle Cell Tumor With Giant Rosettes—A Soft Tissue Tumor With Mesenchymal and Neuroendocrine Features

2000 ◽  
Vol 124 (8) ◽  
pp. 1179-1184 ◽  
Author(s):  
Pablo A. Bejarano ◽  
Tapan A. Padhya ◽  
Roger Smith ◽  
Ruthann Blough ◽  
James J. Devitt ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Spindle Cell ◽  
S100 Protein ◽  
Neuron Specific Enolase ◽  
Neuroendocrine Differentiation ◽  
Cell Tumor ◽  
Factor Xiiia ◽  
Spindle Cell Tumor ◽  
Balanced Translocation ◽  
Spindle Cell Proliferation

Abstract Context.—Hyalinizing spindle cell tumor with giant rosettes is a recently described biphasic neoplasm of soft tissues that shares mesenchymal and neuroendocrine features. Its morphologic structure is distinctive, with the presence of hyalinized paucicellular foci that are termed rosettes. The cells around the latter display positive immunoreactivity for neuroendocrine markers. The small number of cases described to date indicates that they tend to be localized in the extremities. Objective.—To describe the clinicopathologic features of 2 unusual cases of hyalinizing spindle cell tumor with giant rosettes. Methods and Results.—One tumor was located in the prestyloid parapharyngeal space and the second in the left thigh. Both tumors were well circumscribed and surrounded by a thin capsulelike fibrous band without infiltrating projections. The rosettes were embedded in a spindle cell proliferation. Immunohistochemical stains showed positive results for S100 protein, synaptophysin, CD57, protein gene product 9.5, and neuron-specific enolase exclusively in the cells palisading the rosettes. These markers were negative in the spindle cell portions of the tumor. The latter were immunoreactive for factor XIIIa, vimentin, HAM56, collagen IV, and CD68. Vimentin was the only marker shared by the rosette-forming cells and the spindle cells. Ultrastructurally, the rosette-forming cells contained neurosecretory granules. This study describes the first cytogenetic analysis in this type of tumor revealing 2 cell lines, both containing a balanced translocation between chromosomes 7 and 16. Follow-up of the patients at 16 and 8 months did not disclose evidence of recurrence. Conclusions.—These 2 new cases increase the awareness of hyalinizing spindle cell tumor with giant rosettes and demonstrate that it is a spindle cell neoplasm of unique cytogenetic rearrangements composed of dendritic, histiocytic, and fibroblastic cells admixed with cells that have neuroendocrine differentiation.

scholarly journals Acute myeloid leukemia mmicking an Ewing’s sarcoma family tumor: A clinical case

2021 ◽  
Vol 58 (4) ◽  
pp. 24-28
Author(s):  
S. BAITUROVA ◽  
K. OMAROVA ◽  
R. BORANBAEVA ◽  
G. ABDILOVA ◽  
O. PANKOVA ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Clinical Case ◽  
Soft Tissues ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Molecular Genetic ◽  
Young Patients ◽  
Genetic Studies ◽  
Acute Myeloid

Relevance: M6 variant of acute myeloid leukemia is extremely rare in pediatric practice. The diverse clinical manifestations of erythroid leukemia complicate the timely diagnosis of this group of diseases. Purpose: to describe a clinical case of congenital erythroid leukemia with multiple lesions of soft tissues and the skeletal system with complications in the form of the convulsive disorder, presented as a tumor of the Ewing’s sarcoma family, diagnosed at the Research Center of Pediatrics and Pediatric Surgery (Almaty, the Republic of Kazakhstan). Results: The presented clinical case demonstrated challenges in diagnosing and treating young patients with multiple life-threatening tumor lesions. The need to develop molecular genetic studies and expand diagnostic capabilities is an integral part of treating oncohematological diseases. Conclusion: The presented clinical case is of great interest due to its rareness. This case confirms the need to conduct all diagnostic manipulations to assess the process prevalence and choose and conduct molecular genetic studies on all examination and treatment stages.

scholarly journals Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach

Cancers ◽  
2019 ◽  
Vol 12 (1) ◽  
pp. 85 ◽  
Author(s):  
Reza Alaghehbandan ◽  
Delia Perez Montiel ◽  
Ana Silvia Luis ◽  
Ondrej Hes
Keyword(s):  
Current Knowledge ◽  
Molecular Genetic ◽  
Accurate Diagnosis ◽  
Renal Tumors ◽  
Molecular Genetic Testing ◽  
Immunohistochemical Examination ◽  
Renal Epithelial Cell ◽  
Epithelial Tumors ◽  
Molecular Features ◽  
Genetic Features

Renal epithelial cell tumors are composed of a heterogeneous group of tumors with variable morphologic, immunohistochemical, and molecular features. A “histo-molecular” approach is now an integral part of defining renal tumors, aiming to be clinically and therapeutically pertinent. Most renal epithelial tumors including the new and emerging entities have distinct molecular and genetic features which can be detected using various methods. Most renal epithelial tumors can be diagnosed easily based on pure histologic findings with or without immunohistochemical examination. Furthermore, molecular-genetic testing can be utilized to assist in arriving at an accurate diagnosis. In this review, we presented the most current knowledge concerning molecular-genetic aspects of renal epithelial neoplasms, which potentially can be used in daily diagnostic practice.

Inflammatory Myofibroblastic Tumour in Antimesenteric Border of Descending Colon of Children: A Case Report

2015 ◽  
Vol 3 (1) ◽  
pp. 47-50
Author(s):  
Shahnoor Islam ◽  
AKM Amirul Morshed ◽  
Afiqul Islam
Keyword(s):  
Soft Tissue ◽  
Spindle Cell ◽  
Inflammatory Myofibroblastic Tumour ◽  
Pathological Findings ◽  
Soft Tissue Lesion ◽  
Soft Tissue Tumours ◽  
Inflammatory Pseudotumour ◽  
Erythrocyte Sedimentation ◽  
Antimesenteric Border

Inflammatory myofibroblastic tumour (IMT) occurring at intraabdominal sites in children has rarely been described. Inflammatory pseudotumour is a soft tissue lesion that may be confused with a sarcoma. It is abbreviated as IMT. Inflammatory myofibroblastic tumour, also known as soft tissue tumours, atypical fibromyxoid tumours, pseudosarcomatous fibromyxoid tumour, plasma cell granuloma, pseudosarcomatous myofibrotic proliferation, post-operative spindle cell nodules. In this paper, we describe a case of inflammatory myofibroblastic tumour (IMT) with an unusual constellation of clinical, pathological findings. A 10-year-old girl had an 7-cm intraabdominal mass accompanied by severe anemia, fever, constipation, weight loss, thrombocytosis, elevated erythrocyte sedimentation rate. Laparotomy was performed. The final pathologic diagnosis was IMT. At the most recent follow up (12months) after excision of the tumour, the patient was symptom-free and there was no evidence of tumour recurrence.J. Paediatr. Surg. Bangladesh 3(1): 47-50, 2012 (January)

scholarly journals Hypoplastic Myelodysplastic Syndromes: Just an Overlap Syndrome?

Cancers ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 132
Author(s):  
Bruno Fattizzo ◽  
Fabio Serpenti ◽  
Wilma Barcellini ◽  
Chiara Caprioli
Keyword(s):  
Bone Marrow ◽  
Aplastic Anemia ◽  
Clonal Selection ◽  
Cytotoxic T Cells ◽  
Immunosuppressive Treatment ◽  
Young Patients ◽  
Suppressor Cells ◽  
Molecular Alterations ◽  
Molecular Features ◽  
Increased Risk

Myelodysplasias with hypocellular bone marrow (hMDS) represent about 10–15% of MDS and are defined by reduced bone marrow cellularity (i.e., <25% or an inappropriately reduced cellularity for their age in young patients). Their diagnosis is still an object of debate and has not been clearly established in the recent WHO classification. Clinical and morphological overlaps with both normo/hypercellular MDS and aplastic anemia include cytopenias, the presence of marrow hypocellularity and dysplasia, and cytogenetic and molecular alterations. Activation of the immune system against the hematopoietic precursors, typical of aplastic anemia, is reckoned even in hMDS and may account for the response to immunosuppressive treatment. Finally, the hMDS outcome seems more favorable than that of normo/hypercellular MDS patients. In this review, we analyze the available literature on hMDS, focusing on clinical, immunological, and molecular features. We show that hMDS pathogenesis and clinical presentation are peculiar, albeit in-between aplastic anemia (AA) and normo/hypercellular MDS. Two different hMDS phenotypes may be encountered: one featured by inflammation and immune activation, with increased cytotoxic T cells, increased T and B regulatory cells, and better response to immunosuppression; and the other, resembling MDS, where T and B regulatory/suppressor cells prevail, leading to genetic clonal selection and an increased risk of leukemic evolution. The identification of the prevailing hMDS phenotype might assist treatment choice, inform prognosis, and suggest personalized monitoring.

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

scholarly journals Primitive Neuroectodermal Tumor of the Liver: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Eduardo Cambruzzi ◽  
Enilde Eloena Guerra ◽  
Hamilton Cardoso Hilgert ◽  
Herbert Jorge Schmitz ◽  
Vinícius Lopes Silva ◽  
...  
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
Soft Tissues ◽  
Young Patients ◽  
Neuroectodermal Tumor ◽  
Solid Mass ◽  
Resected Liver ◽  
The Central Nervous System ◽  
Right Lobe ◽  
Upper Abdominal ◽  
The Right

Primary liver sarcomas represent a rare group of neoplasias, with angiosarcoma being the most common histological type. Primitive neuroectodermal tumor (PNET) represents a high malignant neoplasia that usually affects the central nervous system and soft tissues. An 18-year-old male patient was admitted with clinical complains of pain in the right upper abdominal quadrant. The clinical evaluation revealed a solid mass in the right hepatic lobe. On the gross examination of the resected liver specimen, the right lobe of the liver was replaced by a yellow-red solid mass measuring 21 cm in its largest dimension. On the histopathology, a tumor composed of small round blue cells with little cytoplasm and round nuclei was identified. The lesion revealed positive immunoexpression for vimentin and CD99 and negative immunostaining for desmin, CD45, cytokeratin, and neuroblastoma protein, suggesting, then, the diagnosis of PNET. Although it is an unusual tumor, it should be considered in the differential diagnosis of liver masses, especially in young patients.

Malignant Ameloblastoma, Spindle Cell Variant

2003 ◽  
Vol 127 (3) ◽  
pp. 352-355
Author(s):  
Richard J. Zarbo ◽  
Mark T. Marunick ◽  
Robert Johns
Keyword(s):  
Spindle Cell ◽  
Intracranial Extension ◽  
Low Grade ◽  
Epithelial Proliferation ◽  
American Girl ◽  
Spindle Cell Proliferation ◽  
Histologic Pattern ◽  
Cell Variant ◽  
Well Differentiated ◽  
African American Girl

Abstract In this report, we document the histologic and clinical features of a previously undefined spindle cell variant of ameloblastoma that eventually behaved in a malignant fashion during a protracted course. The predominant histologic pattern was a well-differentiated, cellular, spindled epithelial proliferation arising in the maxilla of a 14-year-old African American girl. Over 19 years, the patient experienced numerous local recurrences, metastases to distant bones after 15 years, and finally bulky local recurrence with intracranial extension resulting in death. This ameloblastic malignancy histologically simulates a low-grade true sarcoma or an ameloblastic sarcoma, but differs in that the extensive spindle cell proliferation is epithelial, characterized by strong cytokeratin immunoreactivity and negative vimentin staining.

Conventional Radiography and Ultrasound Imaging of Rheumatic Diseases Affecting the Pediatric Population

2021 ◽  
Vol 25 (01) ◽  
pp. 068-081
Author(s):  
Grzegorz Pracoń ◽  
Maria Pilar Aparisi Gómez ◽  
Paolo Simoni ◽  
Piotr Gietka ◽  
Iwona Sudoł-Szopińska
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Lupus Erythematosus ◽  
Soft Tissues ◽  
Juvenile Dermatomyositis ◽  
Pediatric Population ◽  
Connective Tissue Diseases ◽  
Young Patients ◽  
Chronic Recurrent Multifocal Osteomyelitis ◽  
Disease Monitoring ◽  
Juvenile Scleroderma

AbstractJuvenile idiopathic arthritis is the most frequent rheumatic disease in the pediatric population, followed by systemic lupus erythematosus, juvenile scleroderma syndromes, juvenile dermatomyositis, chronic recurrent multifocal osteomyelitis, and juvenile vasculopathies. The imaging approach to inflammatory connective tissue diseases in childhood has not changed dramatically over the last decade, with radiographs still the leading method for bony pathology assessment, disease monitoring, and evaluation of growth disturbances. Ultrasonography is commonly used for early detection of alterations within the intra- and periarticular soft tissues, assessing their advancement and also disease monitoring. It offers several advantages in young patients including nonionizing radiation exposure, short examination time, and high resolution, allowing a detailed evaluation of the musculoskeletal system for the features of arthritis, tenosynovitis, enthesitis, bursitis, myositis, as well as pathologies of the skin, subdermis, vessels, and fasciae. In this pictorial essay we discuss radiographic and ultrasound inflammatory features of autoimmune pediatric inflammatory arthropathies: juvenile idiopathic arthritis, lupus erythematosus, juvenile scleroderma, juvenile dermatomyositis and polymyositis.

scholarly journals Lipid profile indices in young people with GCK-MODY and HNF1A-MODY

2022 ◽  
Vol 17 (4) ◽  
pp. 43-47
Author(s):  
A. K. Ovsyannikova ◽  
I. A. Belyaeva ◽  
R. B. Galenok ◽  
O. D. Rymar
Keyword(s):  
Body Mass Index ◽  
Young People ◽  
Lipid Profile ◽  
Clinical Significance ◽  
Molecular Genetic ◽  
Research Work ◽  
Young Patients ◽  
Lipid Spectrum

Despite the fact that most young patients with hyperglycemia are diagnosed with type 1 (T1DM) and type 2 (T2DM) diabetes, up to 10 % of all cases of the disease are MODY diabetes. The most common types of MODY are GCK-MODY and HNF1A-MODY, therefore the investigation of their clinical and laboratory characteristics, including lipid spectrum indicators is of high clinical significance. The aim of this research work was to study the values of lipid spectrum indicators in patients diagnosed with GCK-MODY and HNF1A-MODY at the age from 18 to 45 years. Lipid profile parameters were investigated in 56 patients aged 18 to 45 years with diagnosed GCK-MODY and HNF1A-MODY by molecular genetic tests, matched by sex, age and body mass index (BMI). No statistically significant differences were found for any of the indicators, however, in patients with HNF1A-MODY, the decrease in HDL-C is determined significantly more often than in GCKMODY. Thus, the group of persons with MODY differs in the level of lipid profile indices depending on the type of MODY.

Sign in / Sign up

Export Citation Format

Share Document