Rectal inflammatory myofibroblastic tumor: Case report and literature review.

RATIONALE: Rectal inflammatory myofibroblastic tumor (IMT) is an extremely rare mesenchymal tumor characterized by a mixture of spindle-shaped myofibroblasts or fibroblasts and inflammatory infiltration of lymphocytes and plasma cells. To date, only 8 cases of rectal IMT have been reported. Herein, we report an additional case of rectal IMT in a 28-year-old woman. PATIENT CONCERNS: A 28-year-old woman presented with abdominal pain and hematochezia. DIAGNOSES: Colonoscopy showed a 3.0-cm subepithelial tumor with central ulceration, covered by white exudate in the rectum. Rectal magnetic resonance imaging revealed a 4.0 × 3.0-cm-sized well-defined subepithelial tumor in the right wall of the rectum, with suspicious right perirectal fat infiltration. INTERVENTIONS: Laparoscopic anterior resection was performed. Microscopic examination of the surgical specimen revealed bland-looking spindle cells intermingled with lymphoplasma cells. Immunohistochemistry and fluorescence in situ hybridization showed anaplastic lymphoma kinase positivity and anaplastic lymphoma kinase positivity rearrangement. Rectal IMT was confirmed based on histological, immunohistochemical, and fluorescence in situ hybridization findings. The patient was doing well without evidence of tumor recurrence 1 year after the surgery. LESSONS: Rectal IMT, despite its rarity, should be considered in the differential diagnosis of rectal cancer. Second, an accurate histopathologic diagnosis and complete surgical resection can be the most important approaches to offer a chance for the cure of rectal IMT.

Imaging findings of inflammatory myofibroblastic tumor from the greater omentum: One case report.

RATIONALE: Inflammatory myofibroblastic tumors (IMTs) are rare neoplastic lesions with benign tendency. Even more rare are IMTs from the greater omentum (GO-IMT). A GO-IMT is easily misdiagnosed as other malignant tumors before operation; thus, clinicians need to be familiar with its imaging findings. Here, we report the imaging findings of a GO-IMT patient presenting with a pelvic mass. PATIENT CONCERNS: Ultrasound of the IMT in the pelvic cavity showed a hypoechoic mass. A computed tomography (CT) scan showed a nearly circular soft tissue mass with a clear border and heterogeneous density, and the surrounding tissues were pushed and compressed. Contrast-enhanced CT showed severe persistent enhancement in the lesion edges and mural nodules, but not in the central necrosis. DIAGNOSES: Histopathology and immunohistochemistry confirmed that the mass was a GO-IMT. INTERVENTIONS: The tumor was resected after preoperative preparation. OUTCOMES: No recurrence or metastasis was found during a short-term follow-up. LESSONS: The GO-IMT is an inferior epigastric mass in the periphery of the bowel, and is usually well-demarcated without calcification or lymphadenopathy. Contrast-enhanced CT showed a heterogeneous hypervascular mass where the center necrosis, the edge of the tumor, and the mural nodules can be partially reinforced.

Spontaneous regression of inflammatory myofibroblastic tumor of the orbit: A case report and review of literature.

Inflammatory myofibroblastic tumor is a rare entity characterized by the presence of myofibroblasts and inflammatory cells within a fibrous stroma. It typically occurs in the pediatric population. The most common site of occurrence is the lung though it has been reported throughout the body. Although rare, it has been reported in the orbit. The clinical course is ill defined in the literature; here we report a case of pediatric IMT with delayed spontaneous regression.

Inflammatory myofibroblastic tumor of the bladder.

We illustrate a case of an inflammatory myofibroblastic tumor (IMT) involving the bladder in a woman with dysuria and review the literature and differential diagnosis. Inflammatory myofibroblastic tumor, also referred to as pseudosarcomatous myofibroblastic proliferation, is a rare lesion that can arise in the genitourinary system and is characterized by a fascicular arrangement of myofibroblasts with admixed inflammatory cells and slitlike vessels. Urinary bladder IMT can be a diagnostic pitfall because its histologic features (brisk mitoses, invasion into muscularis propria, and prominent nucleoli) can mimic malignancy. The differential diagnosis of urinary bladder IMT includes sarcomatoid carcinoma and leiomyosarcoma. Diagnostic features such as bland nuclear chromatin, ganglion-like cells, pale eosinophilic cytoplasm with long processes, overexpression of anaplastic lymphoma kinase (immunohistochemistry or gene rearrangement studies), and the absence of atypical mitoses help distinguish IMT from its malignant mimics. Current controversies regarding postoperative spindle cell nodule and IMT are discussed.

Wilms' tumor protein (WT1) in mammary myofibroblastoma: an immunohistochemical study.

Wilms' tumor protein (WT1) has been immunohistochemically detected in the cytoplasm of some developing, adult normal and neoplastic human tissues, suggesting its complex regulator activity in transcriptional/translational processes. Among neoplastic tissues, WT1 has been documented in the cytoplasm of benign and malignant vascular tumors and in rhabdomyosarcoma, while there are no available studies about its expression in myofibroblastic tumors. Accordingly, we studied immunohistochemically the potential expression of WT1 in mammary myofibroblastoma (MFB), a prototypical myofibroblastic tumor. A series of 18 cases of mammary MFB, including several morphological variants (classic, fibrotic, myxoid, lipomatous, Schwannian-like, and epithelioid variants), were tested with antibodies against the N-terminal of WT1. The most striking finding was a diffuse and strong WT1 cytoplasmic immunostaining restricted to the "epithelioid cell MFB", a rare and diagnostically challenging variant. Conversely the other variants of MFB, including the classic-type, were negative or only focally positive. The present study shows that mammary epithelioid cell MFB should be added to the list of mesenchymal tumors which express WT1 in the cytoplasm of neoplastic cells. Accordingly, we suggest that the detection of WT1 cytoplasmic immunoreactivity is of complementary diagnostic value to conventional myofibroblastic markers in identifying epithelioid cell myofibroblastoma.

Inflammatory myofibroblastic tumors in childhood.

Inflammatory myofibroblastic tumor (IMT) is a rare tumor of intermediate malignant potential that can occur anywhere in the body. Surgical resection is the principal treatment. We report on nine children diagnosed with IMT at our institution over a 10-year period. Presenting symptoms were reflective of tumor location. Complete surgical resection was curative. Local recurrence occurred in the presence of involved surgical margins. One patient with metastatic disease achieved long-term remission with chemotherapy alone. Severe inflammatory response and death occurred in one patient. The 3-year event free and overall survivals (OS) were 58 ± 20% and 89 ± 10% respectively.

Intratracheal inflammatory myofibroblastic tumour mimicking severe acute asthma.

A 3-year-old boy presented with severe airway obstruction which was diagnosed as asthma. He improved but had repeated episodes of severe airway obstruction. On clinical examination, he had a tracheal cough and monophonic wheezing. Imaging revealed a large lesion in the distal part of the trachea which was confirmed by bronchoscopy. The lesion was surgically removed. Histology revealed features characteristic of an inflammatory myofibroblastic tumour. Following the resection there is no recurrence of the lesion.

Adult inflammatory myofibroblastic tumor of the trachea: case report and literature review.

Inflammatory myofibroblastic tumor of the trachea is a rare benign tumor in adults. It is mostly seen before the age of 16. We describe a 20-year-old female patient who presented with stridor. She had a fixed obstruction on spirometry, and computed tomography and bronchoscopy confirmed tracheal thickening and stenosis below the vocal cords and bronchial wall thickening at the level of the carina. Bronchoscopic biopsy confirmed an inflammatory myofibroblastic tumor. She recovered after mechanical dilatation and resection via rigid bronchoscopy, followed by corticosteroid therapy.

[Inflammatory myofibroblastic tumor of the lung: problems in differential diagnosis].

Inflammatory myofibroblastic tumor is a neoplasm of intermediate biological potential, a marked inflammatory component, and characteristic genetic changes. Once it was identified as an independent nosological entity from a rather heterogeneous group of inflammatory pseudotumors. This paper describes a case of inflammatory myofibroblastic tumor of the chest in a child, by discussing the criteria for differential diagnosis in the use of up-to-date radiology techniques. When thoracic neoplasms are detected, it is necessary to determine their site and the most likely origin organ as exactly as possible and to assess the X-ray pattern of the pathological process. By applying the state-of-the-art radiodiagnostic techniques, the clarification of the pattern of the disease makes it possible to choose an optimal treatment policy and a surgical procedure and scope, to avoid anesthesia overload, and to decrease the probability of resurgery. Our observation is to demonstrate possible problems in the diagnosis of inflammatory myofibroblastic tumor of the lung in childhood and to recall again the algorithm of radiological approaches to detecting mediastinal and lung masses.

Inflammatory myofibroblastic tumor of the mesentery: a clinical dilemma.

Although rare, extra-pulmonary inflammatory myofibroblastic tumors (IMTs) are becoming increasingly recognized. While surgical resection is currently an effective and accepted treatment for IMTs, the optimal management of unresectable or residual IMTs remains a clinical dilemma. We present the case of an incompletely resected IMT treated successfully with anti-inflammatory therapy alone, and describe the rationale for this approach.

Wegener's granulomatosis of the temporal bone and skull base that mimicked an inflammatory myofibroblastic tumour: a case report.

OBJECTIVE: To compare two potential diagnoses of a temporal bone pseudotumour: an inflammatory myofibroblastic tumour and Wegener's granulomatosis. METHODOLOGY: A case of Wegener's granulomatosis that mimicked an inflammatory myofibroblastic tumour is reported. The clinical presentation, staging of the disease, histology, and follow-up are analysed. RESULTS: Histopathology of the temporal bone failed to provide an accurate diagnosis, even after immunocytochemical analyses. The diagnosis of Wegener's granulomatosis was suspected after biopsy of a pulmonary mass and was confirmed by the presence of anti-neutrophil cytoplasmic antibodies in blood samples. CONCLUSION: Irrespective of the aetiology, a pseudotumour of the temporal bone should always be investigated by biology and radiology. Radiological investigations will allow staging of the disease and specific localisation for biopsies.

Copy number alterations and expression profiles of candidate genes in a pulmonary inflammatory myofibroblastic tumor.

Inflammatory myofibroblastic tumor (IMT) is a soft tissue neoplasm composed of myofibroblastic spindle cells accompanied by the inflammatory infiltrate. In addition to its phenotypic ambiguity, pathogenic mechanisms of the IMT also remain elusive. Although several chromosomal aberrations have been identified by karyotyping, detailed characteristics and extent of copy number alterations in IMT are unknown. Copy number alterations of an IMT case were examined using 30K whole-genome oligoarray-comparative genomic hybridization. RNA expression of putative cancer-related genes located in the chromosomal altered regions was assessed by qRT-PCR. We identified seven copy number gained regions, seven lost regions, nine amplifications and six homozygous deletions, which covers 2.5% of total genome. In homozygously deleted regions, RNA levels of putative tumor suppressors, SEMA3B, SEMA3F and SULT2A1, were significantly repressed being consistent with copy number status. In high-level amplification regions, RNA expression of four potential cancer-related genes was examined; GSTT1, ESR1, EVI1 and MITF. Among them, GSTT1 and ESR1 were significantly up-regulated, but EVI1 and MITF showed insignificant elevation of RNA expression. To our knowledge, this is the first genome-wide analysis of copy number alterations in IMT. Most of the putative cancer-related genes identified in this study are supposedly novel in IMT. Taken together, our results will help to elucidate the pathogenic mechanisms of IMT.

Inflammatory myofibroblastic tumor in the intradural extramedullary space of the lumbar spine with spondylolisthesis: case report and review of the literature.

An inflammatory myofibroblastic tumor (IMT) is a rare disease entity reported to arise in various organs but still thought to be a neoplastic or reactive inflammatory condition controversially. The author reports an extremely rare case of intradural extramedullary IMT of lumbar spine which was presenting radiculopathy and neurogenic intermittent claudication due to concomitant spondylolisthesis.

Miofibroblastoma mixoide mamario / No disponible

El miofibroblastoma es un tumor muy poco frecuente,perteneciente a la familia de tumores benignos de células fusiformesdel estroma mamario. El miofibroblastoma mixoiderepresenta una rara variante histológica compuesta predominantementepor estroma mixoide, que puede plantearnosdificultades diagnósticas con otros tipos de lesiones mixoides.Presentamos un caso de un tumor en una mujer joven enque las características clínicas y de imagen sugerían un tumorbenigno y finalmente la histología y la inmunohistoquímicaconfirmaron el diagnóstico de miofibroblastoma mixoide mamario(AU)

Myofibroblastoma is an unusual tumor that belongs to thefamily of benign spindle cell tumor of the mamary stroma. Myxoidmyofibroblastoma is a rare histological variant composedpredominantly of a myxoid stroma, this can pose diagnosticproblems with other types of myxoid lesions.We report a case in a young woman which suggested by clinicaland radiological a benign tumor. Finally the histology andimmunohistochemistry confirmed the diagnostic of myxoidmyofibroblastoma of the breast(AU)

Tumor miofibroblástico inflamatorio del plexo braquial / Inflammatory myofibroblastic tumor of the brachial plexus

Se presenta un caso de tumor miofibroblástico inflamatorio del plexo braquial en un varón de 8 años de edad. La resonancia magnética nuclear (RMN) revela la imagen de una masa con un comportamiento agresivo y que englobaba todo el plexo braquial y la arteria y vena subclavia. Se realizó una extirpación completa por el abordaje transclavicular y transesternal. Este abordaje eleva un colgajo osteomuscular que compromete la porción medial de la clavícula, parte del manubrio esternal, la articulación esternoclavicular y el músculo esternocleidomastoideo. Se describe y discute este abordaje que da acceso a todo el plexo braquial y a los grandes vasos permitiendo un excelente control de los mismos. El estudio histológico reveló una proliferación neoplásica consistente en células fusiformes miofibroblásticas asociada a un infiltrado inflamatorio que incluye células plasmáticas, linfocitos y algunas células gigantes tipo osteoclasto. Por inmunohistoquímica existía positividad a la actina, vimentina y a ALK-1 (AU)

The author report the presence of an unpublished inflammatory myofibroblastic tumor of the brachial plexus in a 8 years old boy. Magnetic resonance (MR) images revealed a fusiform mass surronding both subclavian vessels and nerve trunks, divisions and fascicles of the whole left brachial plexus. To obtain a definitive treatment we performed a resection using an trans-clavicular and trans-sternal approach and removed the tumor completely. This approach is based on the elevation of the osseomuscular flap, which comprises the medial portion of clavicle with the sternoclavicular joint, vertex of manubrium and the sternocleidomastoid muscle. This allows a total exposure of the brachial plexus and excelent vascular control. Histological study revealed neoplasic proliferation consisted in spindled myofibroblastic cells, mostly inmunohistochemically positive for actin, vimentin and ALK-1, associated with inflammatory infiltrate including plasma cells, lymphocytes and some giant cells osteoclastic type (AU)

Renal inflammatory myofibroblastic tumor - a new case report.

Renal inflammatory pseudotumor is uncommon, benign tumor that has been classified into separate group but there is a risk that this lesion could be misdiagnosed. The aim of this work is to report a new case of 57-years-old man presented in our hospital with hematuria, minimal grade fever and right flank pain. Magnetic resonance imaging (MRI) and sonography revealed a tumor of the right mediorenal parenchyma, 2.5 cm in diameter. The patient underwent right nephroureterectomy under the diagnosis of renal cell carcinoma. Macroscopically examination carried out on the removed kidney showed a 2/2/1.5 cm yellowish, gelatinous, well circumscribed, mediorenal and pericaliceal mass. Fragments of the tumor were fixed in 10% formaldehyde, included in paraffin, and the sections were stained with HE, VG and immunohistochemically with vimentin (VIM), MNF116, SyN, smooth muscle actin (ACT), desmin, CD68, S100, HMB45, and CD117. The histological examination revealed a compact spindle cell proliferation, a hypocellular fibrous area in an edematous myxoid background infiltrated by small lymphocytes, histiocytes, some plasma cells and small bone area. The spindle cells were diffuse positive for VIM, ACT, CD68 and negative for desmin, MNF116, SyN, S100, HMB45, and CD117. The pathologic diagnosis was renal inflammatory pseudotumor, raising the problem of differential diagnosis, as the clinical and imagistic aspects are similar to those of a renal carcinoma and the problem in establishing a preoperative correct diagnosis.

Fine needle aspiration biopsy and immunostaining findings in an aggressive inflammatory myofibroblastic tumor of the lung: a case report.

BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) can vary from benign pseudosarcomatous tumors to low grade sarcomas. To date, fine needle aspiration (FNA) findings of lung IMTs, especially in the aggressive form, have not been fully described. Here we present FNA biopsy findings in conjunction with immunohistochemical studies in a case of primary and recurrent pulmonary IMT. CASE: A 22-year-old man first presented with a left lung mass and 4.5 years later with a recurrent mass. Preoperative computed tomography-guided FNA was performed on both tumors. FNA cytologic smears of both specimens consisted of scant, distorted spindle cells suggestive of a spindle cell lesion but were insufficient for further classification. Needle core biopsies as well as touch imprints were performed during the FNA procedures. The imprints revealed abundant, well-preserved spindle cells with mild to moderate atypia and intermixed lymphocytes and plasma cells. The spindle cells in both specimens were immunoreactive for vimentin and smooth muscle actin and were negative for pancytokeratin, desmin, CD34 and c-kit. Thirty percent of the tumor cells were positive for p53. The findings were compatible with those of IMT. Histologic examination of the surgically resected initial and recurrent masses confirmed the diagnosis of lMT. CONCLUSION: The cytologic findings of pulmonary IMT in FNA specimens are suggestive of, although not specific for, IMT. Immunohistochemical studies can assist in the diagnosis by excluding other spindle cell lesions. Cytologic atypia and p53 immunoreactivity may be indicators of aggressive IMTs.

Rare thoracic mass lesion--myofibrobastoma.

Mesenchymal soft tissue masses are uncommon tumours of the chest. Myofibroblastoma is a recently described entity consisting of cells with origin from the myoepethelial cell, mostly seen as benign well-circumscribed neoplasms of the breast tissue. Though usually classified as a benign lesion, rarely it can be multifocal and prone to recurrence. We describe below the case of a 26-year-old female who presented with exertional dyspnoea and evidence of a massive mass lesion in the left hemithorax causing mediastinal displacement to the opposite side. On histological and immunophenotypic analysis, a diagnosis of the very rare thoracic myofibroblastoma was made. The incidence, salient features, pathological differential diagnoses and treatment are reviewed.

Metastatic low-grade inflammatory myofibroblastic tumor (IMT) in the central nervous system of a 29-year-old male patient.

A case of myofibrosarcoma (IMT) of the brain and lung as well as the spinal cord is described. A 29-year-old male patient presented with fever (40 degrees C), malaise, vomitus, meningism and leukocytosis. Computer tomography identified a bleeding in the left frontal lobe. A bleeding angioma was suspected and an operation was performed. The histological examination could not reveal an exact diagnosis. Eight months after complete recovery from the first bleeding, the patient had a second intracranial temporo-occipital bleeding on the right side which has been removed operatively. A new lesion was seen in the left parietal white matter of the brain. A growing cavernoma was suspected and resection of the lesion was planned. Pre-operatively the patient suffered from hemoptysis and fever. The X-ray of the chest showed a pulmonary lesion in the left lower lobe. In the CT of the chest a large tumor in the left lower lobe of the lung and additionally a cystic structure in the mediastinum was seen. The histological examination of this tumor identified an inflammatory myofibroblastic tumor (IMT). The left parietal lesion has been resected after the thoracic operation. The brain lesions were estimated to be metastases of the IMT of the lung. In the further clinical history the patient developed a large spinal cord metastasis of the thoracic spine. The metastatic development of the tumor reported in this case is unusual. The current therapy of these tumors consists of complete tumor resection and further clinical controls. However, due to the localization and the extension of some lesions in the present case, the complete resection has not been possible. There is no proven role of chemotherapy and radiation therapy. The patient died due to the pulmonary deterioration.

Developmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway.

There are many crucial genes and signaling pathways in the proper development of an organism. Pathologies may arise from a deregulation of these pathways. The Indian Hedgehog-PTH-related protein (Ihh-PTHrP) pathway is vital in the proper development of endochondral bones, such as the long bones. The Ihh-PTHrP pathway regulates the rate at which chondrocytes within the growth plate proliferate and differentiate. Thus, this pathway allows for the longitudinal growth of bones. However, a disruption in this pathway may lead to enchondromas and osteochondromas, which are both childhood cartilaginous neoplasms. Recently, our lab identified a mutant receptor for PTHrP in enchondroma samples. Mice expressing this mutant receptor and mice with increased Ihh activity develop conditions similar to human enchondromatosis. Linkage analysis shows an association between EXT genes and osteochondromas in hereditary multiple exostoses syndrome. Studies in Drosophila and mice suggest EXT gene products play a role in the diffusion of hedgehog proteins. A mutation in EXT genes may result in an abnormal Ihh diffusion pattern leading to an osteochondroma. There are agents that inhibit Hedgehog signaling. These agents may be useful in the treatment of enchondromas and osteochondromas. This review will discuss the discovery of the Ihh-PTHrP pathway and its involvement in neoplasia, and will suggest possible novel therapeutic agents in the treatment of these cartilaginous neoplasms.