Benign Fibromyxoid Lesion of the Breast: A Distinct Entity From Benign Spindle Cell Tumors of the Mammary Stroma?

2018 ◽  
Vol 26 (6) ◽  
pp. 488-493 ◽  
Author(s):  
Christopher J. Schwartz ◽  
Cynthia A. Schandl ◽  
Jennifer Morse ◽  
Jonathan Ralston ◽  
Amy Rapkiewicz ◽  
...  
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Gene Rearrangement ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
Distinct Entity ◽  
Myxoid Stroma ◽  
Spindle Cells ◽  
Spindle Cell Proliferation ◽  
Rb Gene

Myxoid lesions of the breast can be diagnostically challenging entities. We report 4 cases of CD34+ fibromyxoid lesion that have been previously diagnosed as “benign myxoid lesion,” “nodular mucinosis,” or “mammary myofibroblastoma, myxoid type” on the basis of CD34-positivity. The lesions were microscopically well circumscribed and composed of a paucicellular spindle cell proliferation in a background of myxoid stroma. No epithelial component was identified. The spindle cells showed immunohistochemical reactivity for CD34 and smooth muscle actin. Based on morphologic and immunohistochemical similarities between these cases and myxoid myofibroblastoma, we compared 4 myxoid lesions with cases of typical myofibroblastoma, utilizing retinoblastoma (Rb) antibody and fluorescent in situ hybridization for 13q14 gene rearrangement (encoding the Rb gene). The myxoid lesions showed retention of Rb protein by immunohistochemistry, whereas Rb expression was lost in cases of myofibroblastoma. We identified loss of 13q14 in 3 of 4 cases of myofibroblastoma. Notably, 13q14 gene rearrangement was not observed in any of the myxoid lesions. Our data show that there is at least a subset of CD34+ fibromyxoid lesions that, despite overlapping morphologic and immunohistochemical phenotype and proposed common histogenesis with myofibroblastomas, is genetically distinct from the latter based on Rb analysis.

scholarly journals Well-Differentiated Liposarcoma of the Hypopharynx Exhibiting Myxoid Liposarcoma-like Morphology with MDM2 and DDIT3 Co-Amplification

2021 ◽  
Author(s):  
Khaled A. Murshed ◽  
Hayan Abo Samra ◽  
Adham Ammar
Keyword(s):  
Spermatic Cord ◽  
Gene Rearrangement ◽  
Rare Event ◽  
Soft Tissue Sarcomas ◽  
Myxoid Liposarcoma ◽  
Posterior Wall ◽  
Myxoid Stroma ◽  
Spindle Cells ◽  
Well Differentiated

AbstractWell-differentiated liposarcoma (WDL) is one of the most common soft tissue sarcomas in adults. It has a predilection for middle-aged males and arises in deep-seated locations such as retroperitoneum, mediastinum, and spermatic cord. Its occurrence in young individuals at the hypopharyngeal region is an exceedingly rare event. Myxoid liposarcoma (ML)-like changes can seldom occur in some cases of WDL, which makes the diagnosis of WDL more challenging. Amplification of DDIT3 gene in a subset of cases of WDL has shown to be associated with such unique morphology. Herein, we present a case of a 36-year-old gentleman who presented with difficulty in breathing and swallowing for 3 months duration. CT scan of the neck revealed a lesion along the posterior wall of the hypopharynx measuring 3.5 cm. Histopathologic examination revealed a tumor composed of lobules of oval to spindle cells in a prominent myxoid stroma with delicate chicken-wire vasculature. In the vicinity, there were lobules composed of variably sized adipocytes separated by thick fibrous septa that contains atypical hyperchromatic spindle cells. By immunohistochemistry, the tumor cells in both components were immunoreactive for CDK4, but negative for MDM2. Fluorescence in-situ hybridization (FISH) confirmed the presence of MDM2 gene amplification. There was no evidence of FUS-DDIT3 gene rearrangement, however, DDIT3 gene was also amplified. The diagnosis of well-differentiated liposarcoma with prominent myxoid stroma was rendered. This is the first documentation of WDL with ML-like morphology harboring co-amplification of MDM2 and DDIT3 in the hypopharynx.

Mammary-type Myofibroblastoma with Leiomyomatous Differentiation: A Rare Variant with Potential Pitfalls

2021 ◽  
pp. 106689692110313
Author(s):  
Alexander M. Strait ◽  
Julia A. Bridge ◽  
Anthony J. Iafrate ◽  
Marilyn M. Li ◽  
Feng Xu ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Transcriptome Sequencing ◽  
Smooth Muscle Actin ◽  
The Body ◽  
Muscle Actin ◽  
Mature Adipose Tissue ◽  
Spindle Cells ◽  
Whole Transcriptome Sequencing ◽  
Whole Transcriptome

Myofibroblastoma is a rare, benign stromal tumor with a diverse morphologic spectrum. Mammary-type myofibroblastoma (MTMF) is the extra-mammary counterpart of this neoplasm and its occurrence throughout the body has become increasingly recognized. Similar morphologic variations of MTMF have now been described which mirror those seen in the breast. We describe a case of intra-abdominal MTMF composed of short fascicles of eosinophilic spindle cells admixed with mature adipose tissue. The spindle cells stained diffusely positive for CD34, desmin, smooth muscle actin, and h-caldesmon by immunohistochemistry. Concurrent loss of RB1 (13q14) and 13q34 loci were confirmed by fluorescence in situ hybridization whereas anchored multiplex PCR and whole transcriptome sequencing did not reveal any pathognomonic fusions suggesting an alternative diagnosis. To the best of our knowledge this is the first documented case of leiomyomatous variant of MTMF.

Interstitial Cells of Cajal in Deep Esophageal Leiomyoma

2016 ◽  
Vol 25 (1) ◽  
pp. 51-53 ◽  
Author(s):  
Magnus Hallin ◽  
Satvinder Mudan ◽  
Khin Thway
Keyword(s):  
Smooth Muscle ◽  
Interstitial Cells Of Cajal ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
Gastroesophageal Junction ◽  
Interstitial Cells ◽  
Correct Treatment ◽  
Mesenchymal Neoplasms ◽  
Spindle Cells ◽  
Cells Of Cajal

Gastrointestinal stromal tumors (GISTs) are potentially aggressive mesenchymal neoplasms with spindle cell, epithelioid, or mixed morphology. They typically express CD117, DOG1, and CD34 and can be diffusely and strongly positive for h-caldesmon. Leiomyomas are benign smooth muscle neoplasms that can arise in a variety of visceral and soft tissue sites, including the gastrointestinal tract. We illustrate a case of a neoplasm of the gastroesophageal junction that was clinically suspected to be a GIST. Histology showed a tumor composed of ovoid and spindle cells arranged in short intersecting fascicles, which was positive for desmin, smooth muscle actin, and h-caldesmon, with a prominent interspersed subpopulation of CD117- and DOG1-positive elongated or dendritic-like cells. These features were of leiomyoma with entrapped interstitial cells of Cajal (ICC). The recognition of possible entrapment of ICC in leiomyomas as a potential mimic of GIST is important for correct treatment and prognostication.

Keratin Expression Patterns in Stromal Cells of Benign Sclerosing Lesions of the Breast: A Potential Diagnostic Pitfall

2015 ◽  
Vol 139 (9) ◽  
pp. 1143-1148 ◽  
Author(s):  
Eun-Yeong Oh ◽  
Laura C. Collins
Keyword(s):  
Stromal Cells ◽  
Spindle Cell ◽  
Expression Patterns ◽  
Metaplastic Carcinoma ◽  
Low Grade ◽  
Cell Reactivity ◽  
Diagnostic Pitfall ◽  
Spindle Cells ◽  
Complex Sclerosing Lesion ◽  
Spindle Cell Proliferation

Context Metaplastic carcinomas arising in association with benign sclerosing lesions (BSLs) are rare malignancies in which a neoplastic spindle cell proliferation can be recognized extending beyond the boundaries of the complex sclerosing lesion or papilloma. However, in cases in which the metaplastic carcinoma is of the low-grade fibromatosis-like type or is a low-grade adenosquamous carcinoma, distinction from the background BSL can be a significant challenge. Cytokeratin (CK) and/or p63 immunostains are helpful in confirming the diagnosis of metaplastic carcinoma, but the expression patterns of these markers in the stromal cells of BSLs have not been well characterized. Objective To characterize the expression patterns of CKs and p63 in BSLs. Design We evaluated the spindle cell component of 55 BSLs using CK 5/6, CK 903, CK MNF116, and p63. Results A total of 45 cases (81%) showed no staining for CKs or p63 in benign stromal cells. CK 5/6, CK 903, and p63 were positive in one case each. CK MNF116 stained spindle cells within 10 BSLs. No cases showed spindle cell reactivity for all 4 markers. Positive cases demonstrated very focal, weak staining of spindle cells; only 1 case showed focal, moderate CK staining. Spindle cell positivity was not associated with lesion type, growth pattern, spindle cell atypia, or mitoses. Conclusions These findings suggest that although the presence or absence of expression of CK 5/6, CK 903, and p63 may be useful to distinguish BSL from metaplastic carcinomas arising in this setting, CK MNF116 positivity may be a diagnostic pitfall.

Intraocular Inflammatory Myofibroblastic Tumor With ALK Overexpression

2004 ◽  
Vol 128 (1) ◽  
pp. e5-e7
Author(s):  
Dennis P. O'Malley ◽  
Christopher Poulos ◽  
Magdalena Czader ◽  
Warren G. Sanger ◽  
Attilio Orazi
Keyword(s):  
Tumor Cells ◽  
Inflammatory Myofibroblastic Tumor ◽  
Plasma Cells ◽  
Smooth Muscle Actin ◽  
Chromosome 2 ◽  
Muscle Actin ◽  
Anaplastic Lymphoma ◽  
Spindle Cells ◽  
Multiple Copies

Abstract We report a case of an intraocular inflammatory myofibroblastic tumor nearly filling the vitreous cavity of the eye of a 50-year-old man. The tumor was composed of a mixture of spindle cells and mixed inflammatory elements, including numerous plasma cells. The differential diagnosis included inflammatory pseudotumor and neoplastic mimics of this condition. Further investigation with immunohistochemistry revealed the mass to be composed of myofibroblasts, positive for smooth muscle actin stains and with weak anaplastic lymphoma kinase (ALK) expression in some tumor cells. Evaluation by fluorescence in situ hybridization revealed the tumor cells to have multiple copies of chromosome 2 and ALK but no rearrangement of the ALK gene. The authors propose that multiple copies of the ALK gene may be involved in inflammatory myofibroblastic tumor tumorigenesis, in addition to ALK gene rearrangements.

scholarly journals Description of a Rare Case of Nodular Fasciitis of the Apical Aspect of the Upper Buccal Sulcus

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Ana Amélia Souza ◽  
Eldon Guttenberg Cariri Neto ◽  
Vera Cavalcanti de Araújo ◽  
Fabricio Passador-Santos ◽  
Maria Teresa de Seixas Alves ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Rare Case ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
Surgical Excision ◽  
Nodular Fasciitis ◽  
Muscle Actin ◽  
Complete Surgical Excision ◽  
Histopathologic Diagnosis ◽  
Spindle Cell Proliferation

This report describes a rare case of nodular fasciitis (NF) of the oral cavity, discussing the clinical, histological, and immunohistochemical characteristics. Histopathologic diagnosis of this type of lesion can be challenging due to its differential diagnosis, which principally includes sarcoma. The patient presented with a painless, well-defined nodule, reported as increasing in size, located at the apical aspect of the upper left buccal sulcus. Histologically, the lesion revealed spindle cell proliferation arranged in fascicles, while immunohistochemistry demonstrated positivity for smooth muscle actin. Eight months after complete surgical excision, no signs of local recurrence have been observed.

Primary Smooth Muscle Tumor of Breast: An Unusual Case Presentation

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S41-S41
Author(s):  
S Shawn Liu ◽  
Krutika Patel ◽  
Donna Lynn Dyess ◽  
Andrea Kahn
Keyword(s):  
Smooth Muscle ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
Muscle Differentiation ◽  
Malignant Neoplasms ◽  
Imaging Features ◽  
Significant Past Medical History ◽  
Case Presentation ◽  
Spindle Cells ◽  
Smooth Muscle Differentiation

Abstract Introduction Primary smooth muscle tumors (SMT) of the breast are rare with leiomyosarcomas representing less than 0.1% of all malignant breast tumors. Case Presentation A 58-year-old female with no significant past medical history noted on screening mammography to have a circumscribed 6-mm nodule in the right breast, upper outer quadrant. Core needle biopsy showed a spindle cell neoplasm with smooth muscle differentiation. The excisional biopsy showed a 6-mm lesion composed of atypical hyperchromatic spindle cells in fascicles, marked nuclear pleomorphism, and 5 mitoses per 10 high-power fields. By immunohistochemistry, the spindle cells were positive for smooth muscle actin, desmin, and negative for S-100 and cytokeratin AE1/AE3. Positron emission tomography/computed tomography of head/neck, chest, abdomen, and pelvis did not identify other neoplasms. Despite the lesion size, findings were supportive of a leiomyosarcoma. Discussion Breast SMTs have nonspecific clinical or imaging features. Histologically, these present as spindle cell tumors with smooth muscle differentiation. Initial workup starts with distinction between benign and malignant neoplasms. The malignant SMTs are usually large tumors with cytologic atypia and mitotic activity used as diagnostic criteria. In addition, the distinction between primary and metastasis is important and frequently relies on clinical history and exclusion of other primary origins by radiographic survey. In the current case, although the tumor size is unusually small, the histological features and absence of other primary malignancies support the diagnosis of a leiomyosarcoma. Conclusion Primary leiomyosarcoma of breast is extremely uncommon with less than 70 cases reported in the literature. Although they are usually large tumors, this diagnosis should be included in the differential diagnosis when smooth muscle differentiation, significant atypia, and mitoses are encountered in a spindle cell tumor of the breast.

Synovial Sarcoma Mimicking Pleomorphic Hyalinizing Angiectatic Tumor of Soft Parts: A Case Report

2017 ◽  
Vol 26 (1) ◽  
pp. 73-77
Author(s):  
Neha Gupta ◽  
Samuel Kenan ◽  
Leonard B. Kahn
Keyword(s):  
Synovial Sarcoma ◽  
Fluorescent In Situ Hybridization ◽  
Spindle Cell ◽  
Low Grade ◽  
Unique Case ◽  
Gene Translocation ◽  
High Grade Sarcoma ◽  
Pleomorphic Hyalinizing Angiectatic Tumor ◽  
Histologic Types

Synovial sarcoma is a high-grade sarcoma commonly affecting young adults. The sites of involvement include soft tissue near joints, lung, pleura, mediastinum, larynx, kidney, and buttocks. Histologic types include monophasic, biphasic, and undifferentiated. We report a unique case of synovial sarcoma with low-grade histologic features mimicking pleomorphic hyalinizing angiectatic tumor (PHAT) with indolent behavior for a period of 10 years. The tumor showed angiectatic blood vessels with fibrinous cuffing, hypocellular and hypercellular spindle cell areas with rare mitoses, and focal atypia in a myxoid background. TLE1 was positive with SYT gene translocation detected on fluorescent in situ hybridization. Cases of myxoinflammatory fibroblastic sarcoma and myxofibrosarcoma have been reported as exhibiting histologic features of PHAT. However, to the best of our knowledge, cases of synovial sarcoma mimicking PHAT have not been reported.

Splenic Inflammatory Myofibroblastic Tumor (Inflammatory Pseudotumor)

2001 ◽  
Vol 125 (3) ◽  
pp. 379-385 ◽  
Author(s):  
Thomas S. Neuhauser ◽  
Gregory A. Derringer ◽  
Lester D. R. Thompson ◽  
Julie C. Fanburg-Smith ◽  
Nadine S. I. Aguilera ◽  
...  
Keyword(s):  
Inflammatory Myofibroblastic Tumor ◽  
Epstein Barr Virus ◽  
Inflammatory Pseudotumor ◽  
Spindle Cell ◽  
Growth Patterns ◽  
Concomitant Disease ◽  
Barr Virus ◽  
Spindle Cells ◽  
Spindle Cell Proliferation ◽  
Epstein Barr

Abstract Context.—Inflammatory pseudotumor is an uncommon and enigmatic lesion. The spindle cells found in this tumor have features of myofibroblasts. Because of the indefinite relationship of these lesions with inflammatory fibrosarcoma and their indefinite biologic behavior, inflammatory pseudotumor is currently classified as inflammatory myofibroblastic tumor (IMT). To date, only case reports or small series have been published on these tumors, which are primary in the spleen. Design.—In this study, we describe the clinical, morphologic, and immunophenotypic findings of 12 cases of splenic IMT and examine their relationship to Epstein-Barr virus (EBV). Results.—The patients included 8 women and 3 men, ranging from 19 to 77 years of age (mean, 53 years; median, 60 years). Demographic data were unavailable for 1 patient. Patients generally presented with abdominal pain (n = 5) and fever (n = 4). Associated lesions included renal cell carcinoma (n = 2), colonic adenocarcinoma (n = 1), and cholecystitis (n = 1). All tumors were composed of a bland spindle cell proliferation in association with a variable mixed inflammatory component. There were 2 growth patterns, namely, a cellular spindle cell pattern and a hypocellular fibrous pattern. An immunohistochemical panel confirmed the myofibroblastic nature of the spindle cells. The spindle cells of 2 cases were immunoreactive for EBV latent membrane protein 1, whereas 6 of 10 cases were positive for EBV-encoded RNA using in situ hybridization. Follow-up was available for 8 patients; 6 were alive with no evidence of recurrence and 2 were dead of other causes. Conclusion.—Splenic IMTs are uncommon lesions that can be distinguished from other conditions using a combination of clinical, histologic, and immunophenotypic findings. Epstein-Barr virus may play a role in the pathogenesis of splenic IMT, and there may be an association of splenic IMT with concomitant disease or malignancy. Most splenic IMTs have an excellent long-term prognosis.

Benign Fibroblastic Polyps of the Colon

2009 ◽  
Vol 133 (11) ◽  
pp. 1872-1876 ◽  
Author(s):  
Aaron R. Huber ◽  
James F. Shikle
Keyword(s):  
Cell Proliferation ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
S100 Protein ◽  
Distal Colon ◽  
Screening Colonoscopy ◽  
Adult Women ◽  
Muscle Actin ◽  
Spindle Cell Proliferation ◽  
Sixth Decade

Abstract Benign fibroblastic polyps of the colon are a recently described entity among mucosal polyps found in the colorectum. These polyps are typically discovered on routine screening colonoscopy within the distal colon. Benign fibroblastic polyps occur most commonly in adult women in the sixth decade of life. Histologically, benign fibroblastic polyps are bland spindle cell lesions that fill the lamina propria and displace the surrounding crypts. The spindle cell proliferation lacks atypia and significant mitotic activity. Hyperplastic changes are frequently present both in the adjacent epithelium and within the lesions. Immunohistochemically, the cells of benign fibroblastic polyps are invariably positive for vimentin with rare focal positivity for CD34 and smooth muscle actin. They are negative for CD117 and S100 protein. Ultrastructurally, benign fibroblastic polyps have features of fibroblastic differentiation. These polyps are benign with no reports, to our knowledge, of recurrence or metastasis.

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