Inflammatory myofibroblastoma mimicking cavernous hemangioma in the liver.

A 37-year-old female patient was admitted to the hospital with a large liver mass, diagnosed as hepatic inflammatory myofibroblastic tumour (HIMT), characterized by unique radiographic features and predominantly occurring in adults. HIMT consists of myofibroblast spindle cells infiltrated by plasma cells and/or lymphocytes, with an unclear aetiology linked to factors like infection and immune response. Treatment typically involves surgical resection, with chemotherapy or targeted therapy options for cases of incomplete resection or metastasis, emphasizing the need for precise diagnosis and tailored treatment strategies.

Extramammary myofibroblastoma of the oral cavity.

Myofibroblastoma is a rare, benign mesenchymal tumor first described as a neoplasm of the breast. Extramammary myofibroblastoma is a histopathologically and genetically identical lesion occurring outside the breast. Herein is presented a case of extramammary myofibroblastoma arising in the oral cavity. A 59-year-old woman presented with a 1.5 cm nodule on the buccal surface of the lower lip. Wide local excision was performed. Histopathologic examination revealed haphazard fascicles of monomorphic spindle cells with hyalinized collagen bundles without fat. The spindled cells were diffusely positive for CD34, and focally for progesterone receptor. Desmin, smooth muscle actin, estrogen receptor, androgen receptor, S100, and STAT6 were negative. Rb1 expression was lost in tumor cells. Thus, the diagnosis of extramammary myofibroblastoma was made. Differential diagnoses include spindle-cell lipoma and angiofibroma. All three tumors are members of the 13q14 deletion/RB1 loss family. Indolent but locally aggressive (solitary fibrous tumor, desmoid fibromatosis) and frankly malignant (low-grade peripheral nerve sheath tumor, dermatofibrosarcoma protuberans) entities can be excluded by immunohistochemistry and careful microscopic examination. Extensive sampling extramammary myofibroblastoma is important to exclude the possibility of malignancy. Clinicians and pathologists alike should be aware of this entity and its potential to arise rarely in unusual locations.

Treatment of primitive myxoid mesenchymal tumour of infancy: a management paradigm focusing on surgical nuances.

Primitive myxoid mesenchymal tumour of infancy (PMMTI) is a rare mesenchymal tumour that typically appears in those under 6 months of age and preferentially affects the deep soft tissues of the trunk and paravertebral spinal regions. PMMTI has only recently been described, and there is scarce literature reporting cases regarding the management paradigm of the tumour. We report the case of an 11-week-old male who presented with bilaterally reduced movement and brisk reflexes in his lower limbs, and irritability. Despite numerous radiological investigations, including MRI, PMMTI was only diagnosed upon biopsy and histopathology. Although PMMTI is known to be relatively unresponsive to chemotherapy, we observed a notable decrease in tumour size after a series of chemotherapy sessions. After two-staged surgical resection of the tumour, the patient is currently stable and under close follow-up. In this article, we aim to report on the patient's clinical presentation, investigations, diagnosis, and treatment, while also discussing the findings from a review of the literature pertaining to future approaches in managing PMMTI. Overall, this case highlights the importance of considering PMMTI in the differential diagnosis of deep soft tissue tumours in young infants and the potential for a combination of chemotherapy and surgical resection to be effective in treating this rare tumour.

Recent advances in the diagnosis, classification and molecular pathogenesis of cutaneous mesenchymal neoplasms.

The diagnosis of cutaneous mesenchymal neoplasms remains challenging, due to a combination of overlapping histological features, the rarity of some diagnoses and often inadequate sampling in superficial biopsies. Here, we describe recent advances in cutaneous mesenchymal neoplasms. We discuss improvements in our understanding of the molecular pathogenesis of non-neural granular cell tumour, epithelioid fibrous histiocytoma, composite and retiform haemangioendothelioma and dermatofibrosarcoma protuberans. We also discuss recently described tumour types, including some discovered via molecular testing: EWSR1::SMAD3-rearranged fibroblastic tumour, clear cell neoplasm with MITF::CREM rearrangement and melanocytoma with CRCT1::TRIM11 rearrangement, and some discovered via traditional histopathology: superficial CD34-positive fibroblastic tumour, plexiform myofibroblastoma and clear cell neoplasm with melanocytic differentiation and ACTIN::MITF translocation.

Intraocular myofibroblastoma tumour of the ciliary body: a case report and literature review.

BACKGROUND: Inflammatory Myofibroblastoma Tumors (IMTs) are extremely tumour rare in the intraocular. CASE PRESENTATION: A ciliary body tumor was found under slit lamp biomicroscopy in a 55-year-old male first diagnosed with cataract. Then this patient underwent trans-sclera resection via partial lamellar sclerouvectomy and par plans vitrectomy to remove the mass. Hematoxylin and eosin (HE) staining and immunohistochemistry findings showed that the characteristics of the tumor were consistent with IMT. CONCLUSIONS: We reported a rare case of intraocular IMT, which is confirmed by H&E staining, and IHC positive staining for Vimentin, Desmin and ALK, while negative staining for SMA, S-100, ki-67, CK, CD68, and calponin.

Mammary-type myofibroblastoma of the thigh mimicking liposarcoma.

Myofibroblastoma is a rare tumor that was originally described in the breast but has since been found in extra-mammary locations, where it been renamed mammary-type myofibroblastoma (MTM). We describe a case of MTM occurring in the anterior compartment of the thigh, which was initially interpreted as a possible a liposarcoma on MRI. Two subsequent biopsy samples and eventual excision revealed the tumor to have the characteristic pathology of MTM. This benign tumor, albeit rare, needs to be considered in the imaging differential diagnosis of fat containing deep soft tissue masses of the extremity.

Superficial myofibroblastoma of the lower female genital tract: A clinicopathological analysis of 15 cases.

OBJECTIVE: To describe the clinicopathological features and differential diagnoses of 15 cases of superficial myofibroblastoma, a rare mesenchymal tumor involving the lower female genital tract. METHODS: The clinicopathological data and immunohistochemical findings were retrospectively analyzed in 15 cases of superficial myofibroblastoma. Meanwhile, a systematic literature review was conducted. RESULTS: The age of patients ranged from 34 to 73 years (median, 49 years). Most patients presented with nodular or polypoid masses ranging in size from 0.4 cm to 6.5 cm. Twelve tumors were located in the vagina, two in the vulva, and one in the cervix. Microscopically, the tumor was located in the subepithelial tissue, with a clear boundary and without capsule on the surface. The tumor cells were spindle, oval, stellate or wavy, and arranged in various architectural patterns of reticular, fascicular, wavy and disorderly patterns. There were no obvious cellular atypia and mitotic figures. Thin collagen fibers and thin-walled vessels could be observed in all cases. Most cases were diffusely and strongly reactive to Vimentin (12/12), Desmin (14/15), ER (15/15) and PR (13/14). Variable immunoreactivity for CD34 (8/15), Caldesmon (2/8), SMA (4/14) and CD99 (4/5) were observed. The tumors showed a low Ki67 proliferative index (≤5 %). Follow-up information was available in 10 patients and there was no evidence of recurrence or metastasis. CONCLUSIONS: Superficial myofibroblastoma is a rare benign tumor that originates from the hormone-sensitive, subepithelial mesenchymal tissue of the lower female genital tract, and should be differentiated from other mesenchymal tumors.

Myofibroblastoma of the breast showing rare palisaded morphology and uncommon desmin- and CD34-negative immunophenotype: A case report.

Myofibroblastoma is a rare benign mesenchymal tumor typically arising in the breast. We report a diagnostically challenging case of myofibroblastoma of the breast showing a rare palisaded morphology and an uncommon desmin- and CD34-negative immunophenotype. A 73-year-old man underwent an excision for an 8 mm-sized breast mass. Histology revealed that the tumor was composed of fascicles of bland spindle cells showing prominent nuclear palisading and Verocay-like bodies. First, schwannoma, malignant peripheral nerve sheath tumor, and synovial sarcoma were suspected given the palisaded morphology. However, none of them was confirmed by immunohistochemical or molecular analyses. Next, a palisaded variant of myofibroblastoma was suspected by the morphology and coexpression of estrogen, progesterone and androgen receptors, BCL2 and CD10 in immunohistochemistry. However, the key diagnostic markers, desmin and CD34, were both negative. Finally, the diagnosis of myofibroblastoma was confirmed by detecting RB1 loss in immunohistochemistry and monoallelic 13q14 deletion (RB1 and FOXO1 loss) by fluorescence in situ hybridization assay. For the correct diagnosis of myofibroblastoma, it is important for pathologists to recognize the wide morphological spectrum, including a palisaded morphology, and the immunophenotypical variations, including desmin- and CD34-negative immunophenotypes, and to employ a comprehensive diagnostic analysis through combined histological, immunohistochemical and molecular evaluations.

PET/CT-Detected myofibroblastoma of the breast with bizarre cells: A potential diagnostic pitfall of malignancy.

Myofibroblastoma (MFB) is a rare benign mesenchymal tumor usually occurring in the breast parenchyma. This tumor can present as a palpable nodule or can be incidentally detected as a nonpalpable mass on routine screening mammogram. We first report a rare case of histologically proven MFB of the breast revealed by fluoro-deoxyglucose uptake on PET-CT examination in a patient with a lung nodule. Tumor exhibited an unusual morphology, being predominantly composed of polygonal, epithelioid, and deciduoid-like cells set in a myxoid stroma. The most striking feature was the multifocal presence of atypical/bizarre, mono/bi-nucleated cells that, in addition to diffuse myxoid stromal changes, were a concern of malignancy, especially on core biopsy. The final diagnosis of MFB was achieved on surgically resected specimen and, similarly to other benign soft tissue tumors (especially leiomyoma and schwannoma/neurofibroma), the term "bizarre cell MFB of the breast" is proposed to emphasize the degenerative/reactive nature of the atypia.

Extramammary orbital myofibroblastoma: a rare orbital tumor.

Extra-mammary myofibroblastomas are rare benign mesenchymal neoplasms, histologically and immune-phenotypically identical to mammary myofibroblastomas. Histologically, they are characterized by the abundance of spindle cells in hyalinized collagenous stroma with positive expression of CD 34 and desmin. We present an extremely rare case of extra-mammary myofibroblastoma of the orbit in a 29-year - old male who presented with painless proptosis of the right eye, with a description of clinical, radiological, and histological findings.

A case of Crohn's disease combined with inflammatory myofibroblastoma of abdominal wall. / å ‹ç½—æ©ç— åˆå¹¶è ¹å£ç‚Žæ€§è‚Œçº¤ç»´æ¯ç»†èƒžç˜¤1例.

Inflammatory myofibroblastoma (IMT) is a rare solid tumor, and its etiology and pathogenesis are unclear. Crohn's disease is a non-specific intestinal inflammatory disease. The clinical manifestations, laboratory examinations, and imaging examinations of IMT are not specific, making diagnosis difficult. A case of Crohn's disease combined with IMT of abdominal wall was admitted to the Department of Gastroenterology at the Third Xiangya Hospital, Central South University, on Nov. 21, 2017. This patient was admitted to our hospital because of repeated right lower abdominal pain for 4 years. A 6 cm×5 cm mass was palpated in the right lower abdomen. After completing the transanal double-balloon enteroscopy and computed tomographic enterography for the small intestinal, the cause was still unidentified. The patient underwent surgery due to an abdominal wall mass with intestinal fistula on Sept. 12, 2018 and recovered well currently. According to histopathology and immunohistochemistry, he was diagnosed with Crohn's disease combined with IMT. Up to July 2020, the patients still took azathioprine regularly, without abdominal pain, abdominal distension, and other discomfort, and the quality of his life was good.

Clinicopathological and radiological characterization of myofibroblastoma of breast: A single institutional case review.

Myofibroblastoma is a rare type of benign myofibroblastic neoplasm in the breast. It is clinically presented as a well-circumscribed mass, usually small in size (usually less than 4.0 cm), and can mostly be cured by local excision. Rare cases of giant myofibroblastoma greater than 10 cm have been reported, but also follow a benign clinical course. Histologically, breast myofibroblastoma is featured by bland fascicles of spindle cells intermixed with thick hyalinized collagen bundles. Mast cells are frequently found within the stroma. However, a wide spectrum of morphological variants can occur in myofibroblatoma, making its diagnosis challenging sometimes. Differential diagnosis of myofibroblastoma with other spindle cell lesions in the breast, either benign or malignant, is also important in practice. In this study, we collected 15 cases of breast myofibroblastoma diagnosed in our institution during a 20 year period. The sizes of these cases range from 0.4 cm to 35.2 cm (mean is 3.7 cm). To our knowledge, the case of giant breast myofibroblastoma we presented here is the largest one reported to date. The histological examination of the cases show great morphological variations. Besides the classical type, features of cellular, collagenized, palisading, epithelioid, myxoid, myoid, solitary fibrous tumor-like are also identified in the case series. Immunohistochemical staining patterns as well as clinical features of the cases are also summarized and compared. All cases in this study show no recurrence on follow-up. In addition, cases that are important differential diagnosis for breast myofibroblastoma are also studied. Their key histological characteristics are compared with myofibroblastoma, and their immunohistochemical and molecular features are discussed.

Myofibroblastoma of the breast in postmenopausal women: Two case reports with imaging findings and review of the literature.

Myofibroblastoma is a rare benign mesenchymal tumor of the breast, which tends to affect postmenopausal women and older men. It usually presents as a unilateral, well-circumscribed, firm, nontender, and freely mobile mass. We report two cases of myofibroblastoma in postmenopausal women with the imaging findings of mammography, ultrasonography, computed tomography, 18 F-Fluorodeoxyglucose-positron emission tomography computed tomography, and pathologic findings and review the relevant literature.

Characterization of CD34-deficient myofibroblastomas of the breast.

Mammary myofibroblastoma is a benign spindle cell tumor that can show variable morphologic patterns and lines of differentiation. Diffuse and strong immunohistochemical expression of CD34 is a characteristic of myofibroblastoma and greatly aids in confirming a diagnosis. Myofibroblastoma has been shown to belong to a family of CD34-positive tumors with similar morphology that show a deletion of 13q14, which includes RB1 and FOXO1A genes. The purpose of this study was to better understand a subset of myofibroblastomas that is characteristically CD34-deficient by immunohistochemistry. Six myofibroblastomas were studied by immunohistochemistry and fluorescence in situ hybridization (FISH) for RB1. Patients included five women and one man, aged 41-85 years (median, 52.5). Tumor size ranged from 0.4 to 1.5 cm (mean, 0.95). Tumors showed spindle cell morphology in five cases and epithelioid features in one case. Two tumors showed complete lack of CD34 staining. The remaining showed weak focal or weak patchy CD34 staining. Dichotomous staining was seen in one case with CD34-positive spindle cell areas and CD34-negative myxoid areas. All six tumors showed ER expression, five of six showed desmin expression, and four of six showed bcl-2 positivity. Two of six (33.3%) tumors showed deletion of RB1 by FISH, including one that showed loss of Rb immunohistochemical staining. Myofibroblastomas uncommonly show absent/focal expression of CD34, a potential diagnostic pitfall, particularly in small samples. Characteristic staining with other immunohistochemical markers is seen which can aid in confirming the diagnosis. These tumors may harbor deletion of RB1, similar to CD34-positive myofibroblastomas, and this deletion may not correlate with loss of Rb by immunohistochemistry.

Imaging features of mammary-type myofibroblastoma of soft tissue: a case series with literature review.

Mammary-type myofibroblastoma (MTM) is a rare, benign neoplasm that is histologically identical to myofibroblastoma of the breast, but occurring in an extramammary site. The masses have been reported in superficial and deep soft tissue sites and visceral locations with the inguinal area and lower extremities are the most common. Most previous reports of MTMs have concentrated on clinical and pathological findings, with very limited information regarding imaging characteristics. Here, we describe three cases of MTM diagnosed at our institution, with a focus on imaging findings. We compare our findings with previously reported cases. Although MTM is rare, radiologists should be aware of this benign diagnosis as imaging characteristics can mimic those of liposarcomas and atypical lipomatous tumor/well-differentiated liposarcoma. Unlike those tumor types, MTM virtually never recurs post-resection, even when there are positive margins. Biopsy is necessary for proper diagnosis and recommended as an initial step to avoid overly aggressive treatment.

Epithelioid Myofibroblastoma of the Breast: A Report of Two Cases with Discussion of Diagnostic Pitfalls.

Mesenchymal lesions of the breast are uncommon lesions which present diagnostic dilemmas for even the most experienced pathologists. Here, we present two cases of the epithelioid-variant of myofibroblastoma which were misdiagnosed as malignant lesions. Careful integration of clinical presentation, imaging, and close examination of the gross, histologic, and immunohistochemical findings can assist in differentiating these challenging lesions and avoiding diagnostic pitfalls.

Surgically challenging inflammatory myofibroblastic tumor: A rare neoplasm of lung.

Inflammatory myofibroblastic tumor is considered one of the rarest benign tumors constituting 0.7% of all lung neoplasms. It was first described in 1939. We report a case of a 10-year-old child who presented with recurrent cough and fever. Chest radiography and computed tomography demonstrated complete involvement of right lung by the tumor. The tumor along with the affected lung was meticulously dissected from the surrounding structures and was delivered outside. The histopathology of the specimen revealed it to be inflammatory fibroblastoma.

Chondrolipoma of the Breast: A Myofibroblastoma Variant or a Distinct Lesion?

The entity commonly referred to as chondrolipoma is a rare and enigmatic breast lesion with unclear histogenesis and a complete lack of molecular characterization. It is uncertain whether it represents a hamartoma, choristoma, or a distinct neoplasm, including possibly a variant of mammary-type myofibroblastoma. We report two additional chondrolipomatous lesions of the breast. The lesions had varying histologic and immunohistochemical features similar to myofibroblastoma, including the loss of retinoblastoma (Rb) protein expression in one lesion. Molecular analysis by chromosomal microarray analysis performed on a second lesion did not demonstrate a loss of 13q14 or 16q typical of myofibroblastoma. Our findings further support the concept that at least a subset of breast lesions that historically have been classified as chondrolipoma are related to myofibroblastoma. However, the lack of myofibroblastoma-specific molecular alterations in one lesion suggests chondrolipomas may also have varying origins.

Tracheal resection anastomosis for rare tracheal inflammatory lesions mimicking malignancy: report of 2 cases.

BACKGROUND: Tumor-like lesions of the trachea are rare and challenging in diagnosis and management. Inflammatory myofibroblastoma, also known as Inflammatory pseudo tumors (IPTs), as well as Rosai Dorfman Disease (RDD) are inflammatory lesions that may involve the central airways with variable non-specific clinical features mimicking tumors. CASE PRESENTATION: In this study 2 cases with tumor-like lesions are presented. One case with an inflammatory pseudotumor and the other one with Rosai-Dorfman disease affecting the upper trachea. Both cases were successfully managed with tracheal resection anastomosis. CONCLUSION: Tracheal Inflammatory myofibroblastoma, and Rosai-Dorfman diseases are rare tumor like lesions that present with upper airway obstruction. Despite being benign, these lesions may have features suggestive of malignancy, requiring prompt management. Complete surgical excision by segmental resection and primary anastomosis (if feasible) is the treatment of choice with an optimum outcome.