Myxoid Tumor Research Articles

The use of 3-d models in the reconstruction of recurrent myxoma of the maxilla

Objectives: To document the effective treatment of a recurrent myxoma involving the maxillary and zygomatic bone using a 3-dimensional (3-D) acrylic medical model to aid in reconstructing the surgical defect. Methods: Computed tomography, 3-D acrylic medical model, titanium mesh, calvarial bone graft, hydroxyapatite cement were used. Results: A young woman who had previously undergone a resection of a myxoid tumor in the right maxilla presented with a recurrence involving the zygomaticomaxillary suture. Due to the imposed large bony defect, a 3-D acrylic model was fabricated preoperatively to provide a template for reconstruction. Calvarial bone graft was harvested and sculpted with surrounding titanium mesh. Using the acrylic model enhanced the 3-D understanding of the reconstructive and aesthetic considerations. Conclusion: Myxoma is a rare benign odontogenic tumor that may pose a challenge in total surgical extirpation as well as reconstruction. Often, myxoma can be recurrent and limit the possible reconstructive methods due to the extent of disease. Reconstructing the surgical defect can be aided with the use of 3-D models created from reformatted computed tomography.

Myxomatous meningeal tumour: a case of “metastatic” cardiac myxoma

Cardiac myxoma accounts for nearly half of all cardiac the excised lesion revealed vascularised myxoid neoplasm tumours. Most are asymptomatic but non-specific symptoms, cardiac flow disturbances, dysrrythmias and embolisation (30 – 35% of cases [2]) have been reported. Embolisation is most commonly seen when the surface is irregular or fragmentary. Emboli have been reported in cerebral, splenic, abdominal aorta, renal and peripheral circulations. Although the emboli commonly cause infarcts, there are a few reported instances in which the embolus has actually grown into a tumour. We recently saw a case of cerebral embolisation from an atrial myxoma causing diagnostic confusion. A 50-year-old female presented to the outpatient clinic with 1 month history of transient left arm weakness. Physical examination was unremarkable. MRI scan (Fig. 1) showed a strongly enhancing lobulated 4 cm soft tissue mass in the right parietal region suggestive of a meningioma. She was started on dexamethasone. Histology of the excised lesion revealed a vascular tumour with fibroblastic areas, some ectatic vascular channels and evidence of haemorrhage with very mild cytological pleomorphism without mitoses. Immunohistology for metastatic carcinoma, glial and meningeal differentiation was negative. On balance, it was judged to be a low grade myxosarcoma possibly arising from the meninges (Fig. 2a). She made a good recovery and was discharged home. Four weeks after her neurosurgery, transthoracic echocardiogram (outstanding from her previous investigations) showed a left atrial mass attached to the low inter-atrial septum and prolapsing into the mitral valve. Histology of

Sarcoma botryoides of the uterine cervix in a 46-year-old woman: case report and literature review.

Sarcoma botryoides, which usually occurs in the vagina in childhood, is rare in the female reproductive tract of adult women, especially those over the age of 40. We present a case of sarcoma botryoides of the uterine cervix that was an incidental finding in a 46-year-old woman. The tumor formed a grape-like cervical polyp that was locally excised, but rapidly recurred. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. The myxoid tumor had a cambium layer and was composed of spindle-shaped myoblastic cells without apparent cross-striations. The tumor cells were immunoreactive for MyoD1 and myogenin. Postoperative chemotherapy (vincristine and actinomycin D) was given according to the Intergroup Rhabdomyosarcoma Study protocol, and the patient was alive without recurrence 45 months postoperatively. This is the only the fourth case reported in detail of a sarcoma botryoides of the uterine cervix in a patient over the age of 40.

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas.

Purpose: Soft tissue sarcomas (STS) account for less than 1% of all malignancies and constitute a heterogeneous tumor entity in which malignant fibrous histiocytomas (MFH) represent one-third and are characterized by a lack of type-specific differentiation. A defective mismatch repair (MMR) system cause the familial cancer syndrome hereditary non-polyposis colorectal cancer (HNPCC), and since occasional MFH have been described in HNPCC patients we assessed the contribution of defective MMR to the development of MFH.Methods: MMR status was characterized in a series of 209 histopathologically reviewed MFH. Tissue microarray sections from the tumors were immunohistochemically stained for the MMR proteins MLH1, MSH2 and MSH6, and cases with aberrant staining were further characterized for microsatellite instability.Results and Discussion: Two of the 209 STS–a storiform-pleomorphic MFH and a myxofibrosarcoma–showed concomitant loss of MSH2 and MSH6, but retained staining for MLH1 on both cases. The myxoid tumor also had a microsatellite unstable phenotype. These findings, together with previous observations of defective MMR in pleomorphic STS, indicate that these tumors may be part of the HNPCC-associated tumor spectrum and demonstrate that MMR defects occur in a small subset of STS.

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas.

Soft tissue sarcomas (STS) account for less than 1% of all malignancies and constitute a heterogeneous tumor entity in which malignant fibrous histiocytomas (MFH) represent one-third and are characterized by a lack of type-specific differentiation. A defective mismatch repair (MMR) system cause the familial cancer syndrome hereditary non-polyposis colorectal cancer (HNPCC), and since occasional MFH have been described in HNPCC patients we assessed the contribution of defective MMR to the development of MFH. MMR status was characterized in a series of 209 histopathologically reviewed MFH. Tissue microarray sections from the tumors were immunohistochemically stained for the MMR proteins MLH1, MSH2 and MSH6, and cases with aberrant staining were further characterized for microsatellite instability. Two of the 209 STS-a storiform-pleomorphic MFH and a myxofibrosarcoma-showed concomitant loss of MSH2 and MSH6, but retained staining for MLH1 on both cases. The myxoid tumor also had a microsatellite unstable phenotype. These findings, together with previous observations of defective MMR in pleomorphic STS, indicate that these tumors may be part of the HNPCC-associated tumor spectrum and demonstrate that MMR defects occur in a small subset of STS.

Tumors of the conjunctiva and cornea

Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired lesions. The acquired lesions are further subdivided based on origin of the mass into surface epithelial, melanocytic, vascular, fibrous, neural, histiocytic, myxoid, myogenic, lipomatous, lymphoid, leukemic, metastatic and secondary tumors. Melanocytic lesions include nevus, racial melanosis, primary acquired melanosis, melanoma, and other ocular surface conditions like ocular melanocytosis and secondary pigmentary deposition. The most frequent nonmelanocytic neoplastic lesions include squamous cell carcinoma and lymphoma, both of which have typical features appreciated on clinical examination. The caruncle displays a slightly different array of tumors compared to those elsewhere on the conjunctiva, as nevus and papilloma are most common, but oncocytoma and sebaceous gland hyperplasia, adenoma, and carcinoma can be found. In this report, we provide clinical description and illustration of the many conjunctival and corneal tumors and we discuss tumor management.

Comparative fine-needle aspiration and pathologic study of malignant fibrous histiocytoma: cytodiagnostic features of 95 tumors in 71 patients.

To determine diagnostic cytomorphologic features of malignant fibrous histiocytoma (MFH) on fine-needle aspiration (FNA) materials, we reviewed the cytologic material and corresponding histologic slides of 95 tumors in 71 patients. Forty-four (46%) tumors were primary, 38 (40%) were recurrent, and 13 (14%) were metastatic. Histological variants of MFH were as follows: 52 (54.7%, 43 patients) were of the storiform/pleomorphic, seven (7.4%, five patients) were giant cells, four (4.2%, four patients) were inflammatory, and 31 (33.7%, 19 patients) were myxoid type. Review of original cytology reports showed that only 23 (24.2%) tumors were diagnosed as MFH and 68 (71.6%) as other types of malignancies. Four (4.2%) cases were reported as unsatisfactory/suspicious. Our findings showed that spindle-shaped, round, giant cells, osteoclastic-like giant, and inflammatory cells were the most consistent features that allow identification of the storiform/pleomorphic, giant cell, and inflammatory variants of MFH. The myxoid tumors had marked myxoid background matrix with spindle-shaped cells and, less frequently, round and giant cells. Pleomorphic leiomyosarcoma and dedifferentiated liposarcoma should be considered in the differential diagnosis of stroriphorm/pleomorphic, giant cells, and inflammatory variants of MFH. However, myxoid MFH may resemble their leiomyosarcoma and liposarcoma counterparts.

Myxoid Liposarcoma Confirmed by TLS/FUS-CHOP Fusion Transcripts

Described here is the use of detecting TLS/FUS-CHOP fusion transcripts to confirm the diagnosis of a myxoid liposarcoma by nested reverse transcription-polymerase chain reaction assay using archival formalin-fixed, paraffin-embedded tissues of a young man with a benign-looking myxoid tumor on his upper extremity, which is often misdiagnosed clinically or histopathologically as a benign tumor.

Myxofibrosarcoma presenting in the skin: clinicopathological features and differential diagnosis with cutaneous myxoid neoplasms.

Myxofibrosarcoma (myxoid malignant fibrous histiocytoma) is one of the most common fibroblastic sarcomas in the older patient, where it can sometimes present with anatomically deceptive boundaries. Myxofibrosarcoma is now fully characterized as a distinctive and definable pathologic entity. Clinically there is a tendency for predominantly subcutaneous, multinodular, diffusely infiltrative growth, which may extend to the overlying dermis and present as a cutaneous lesion. Histologically myxofibrosarcoma comprises a spectrum ranging from hypocellular low-grade myxoid to high-grade pleomorphic sarcoma. We report herein 6 cases of myxofibrosarcoma each with dermatological presentation as a cutaneous nodule. The dermal component in each of the lesions was low- to intermediate-grade and predominantly myxoid resulting in confusion with benign myxoid neoplasms in small biopsy specimens. The purpose of this series is to focus the attention of workers in dermatology on a subject rarely discussed in dermatopathology literature: the cutaneous presentation of myxofibrosarcoma and the potential for clinical and histologic misinterpretation, as benign dermal lesions.

Acral myxoinflammatory fibroblastic sarcoma in FNAB samples: can we distinguish it from other myxoid lesions?

We analysed cytomorphological characteristics of three fine needle aspiration biopsy (FNAB) samples of acral myxoinflammatory fibroblastic sarcoma (AMIFS) as well as the features of a number of other benign and malignant myxoid lesions. The analysis showed that FNAB samples from two cases of AMIFS had similar cytomorphology, containing all the characteristic features described in surgical biopsies: myxoid material, spindle cells with bipolar cytoplasmic extensions, epithelioid cells with globules of extra-cellular material, ganglion-like and lipoblast-like giant cells. Only the inflammatory component was scarce. The third sample did not contain features typical of AMIFS. Samples from other myxoid tumours resembled AMIFS to some extent, however, none of them contained all three tumour components characteristic of AMIFS. Cytomorphology of AMIFS may be characteristic enough to enable a definitive diagnosis from FNAB, provided all the distinctive features are sampled.

Studies on the Molecular Pathogenesis of Extraskeletal Myxoid Chondrosarcoma—Cytogenetic, Molecular Genetic, and cDNA Microarray Analyses

Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent chromosome translocations resulting in fusions of the nuclear receptor TEC to various NH(2)-terminal partners. Here we describe the phenotypic, cytogenetic, and molecular genetic characteristics of a series of 10 EMCs. Using spectral karyotyping and fluorescence in situ hybridization, clonal chromosome abnormalities were detected in all but one tumor. A t(9;22)(q22;q12) translocation was found in three cases; a del(22)(q12-13)in one case; and variant translocations, including t(9;17)(q22;q11-12), t(7;9;17)(q32;q22;q11), and t(9;15)(q22;q21), were detected in one case each. Recurrent, secondary abnormalities, including trisomy 1q, 7, 8, 12, and 19, were found in seven tumors. All tumors contained translocation-generated or cryptic gene fusions, including EWS-TEC (five cases, of which one was a novel fusion), TAF2N-TEC (four cases), and TCF12-TEC (one case). cDNA microarray analysis of the gene expression patterns of two EMCs and a myxoid liposarcoma reference tumor revealed a remarkably distinct and uniform expression profile in both EMCs despite the fact that they had different histologies and expressed different fusion transcripts. The most differentially expressed gene in both tumors was CHI3L1, which encodes a secreted glycoprotein (YKL-40) previously implicated in various pathological conditions of extracellular matrix degradation as well as in cancer. Our findings suggests that EMC exhibits a tumor-specific gene expression profile, including overexpression of several cancer-related genes as well as genes implicated in chondrogenesis and neural-neuroendocrine differentiation, thus distinguishing it from other soft tissue sarcomas.

Fine-needle aspiration of leiomyosarcoma: a correlative cytohistopathological study of 96 tumors in 68 patients.

To better define the cytological features of various leiomyosarcoma (LMS) variants, we reviewed the fine-needle aspiration material and the corresponding histologic sections of 96 tumors in 68 patients. Histological variants of LMS were as follows: 80 (83.3%) were of the classical/usual, seven (7.3%) were epithelioid, and nine (9.4%) were myxoid. Review of original cytology reports showed that 23 (24%) tumors were diagnosed as LMS and 69 (71.8%) as other types of malignancies. Two (2.1%) cases were reported as suspicious and two (2.1%) were unsatisfactory. The classical variants of LMS were characterized cytologically by various proportions of spindle-shaped, cohesive, small- or large-sized cells arranged in parallel alignment. Large spindle, round, binucleated, giant cells with intracytoplasmic granulations were frequently seen. Blunt-ended nuclei, intranuclear inclusions and mitotic figures were occasionally seen, as well as stromal fragments. The epithelioid tumors were composed of an admixture of small and large, spindle-shaped and round cells, also arranged in parallel alignment. Tumor cells with granular cytoplasm, blunt-ended nuclei, intranuclear inclusions, mitotic figures, fibrous or myxoid stroma were not observed. The myxoid tumors disclosed large amounts of background myxoid matrix containing large spindle-shaped and giant cells. Entities such as leiomyoma, malignant peripheral nerve sheath tumor, monophasic synovial sarcoma, and malignant fibrous histiocytoma should be considered in the differential diagnosis of LMS of the classical type. Epithelioid leiomyoma may share similar cytological features with epithelioid LMS. The cytological features of the myxoid variant of LMS can be easily confused with other types of benign and malignant mesenchymal tumors depicting degenerative myxoid changes and/or a myxoid matrix component.

Calf Mass in an 11-Year-Old Girl

Calf Mass in an 11-Year-Old Girl

Breast Cancer Stromal Myxoid Changes Are Associated with Tumor Invasion and Metastasis: A Central Role for Hyaluronan

The interplay between a tumor and its environment is exemplified by the morphological changes observed in the stroma of human breast cancer. These changes are evident as stromal myxoid changes. Hyaluronan, an extracellular polysaccharide that has been implicated in invasion, is one of the major constituents of the stromal myxoid changes. This study evaluated the association of these stromal changes with axillary node status, tumor grade, and mortality. The prognostic value of the stromal myxoid changes was evaluated in patients with negative axillary nodes with 10 years of follow-up. Our results showed a high level of reproducibility of our stromal myxoid changes grading system (overall kappa = 0.68). Image analysis semiquantification showed marked correlation of a strong stromal hyaluronan signal with high-grade stromal myxoid changes. In a multiple logistic regression analysis, positive nodes were associated with stromal myxoid changes, tumor size, desmoplasia, lymphocytic infiltration, high tumor grade, tumor emboli, and multifocality. Stromal myxoid changes were also associated with young age and lymphatic embolizations (P < .001). Overall, there is a weak correlation between mortality and stromal myxoid changes (P < .01). Mortality was more evident with high stromal myxoid changes grades and tumor size >2 cm (P < .008). However Cox multivariate analysis fail to show stromal myxoid changes as an independent prognostic factor. In conclusion, stromal myxoid changes with high hyaluronan concentration are strongly associated with positive nodes, tumor grade, and lymphatic emboli, thereby identifying high-risk group and reinforcing the role of hyaluronan in invasion and metastasis.

Subungual perineurioma: a peculiar location

We report the first case of subungual perineurioma presenting as clubbing of one finger, an unusual clinical feature. Histological study showed a myxoid tumour but with, unexpectedly, a diffuse expression of CD34. Differential diagnoses between perineurioma and myxoid soft tissue tumours expressing CD34 are discussed.

Angiomyofibroblastoma of the vulva occurring in a teenaged girl

Angiomyofibroblastoma (AMFB) is an angiomyxoma that is related to a group of rare mesenchymal myxoid tumours. This recently described benign tumour most commonly involves the soft tissue of the vulva and vagina. Patients are usually premenopausal and present with a vulval mass that is often diagnosed initially as a Bartholins cyst. This benign tumour should be distinguished from the aggressive angiomyxoma (AA) that has more infiltrative character and high recurrence rate. In this report we describe a case of angiomyofibroblastoma in a 17-year-old female patient. To our knowledge this is the first case of angiomyofibroblastoma seen in a teenager. (excerpt)

Juxta-articular myxoma and intramuscular myxoma are two distinct entities. Activating Gs alpha mutation at Arg 201 codon does not occur in juxta-articular myxoma.

Juxta-articular myxoma is a rare myxoid tumor of soft tissue that bears a close histologic resemblance to intramuscular myxoma but is distinguished from the latter by its clinical setting and behavior. Activating missense mutations at the Arg 201 codon of the Gs alpha gene ultimately leading to increased levels of cyclic adenosine monophosphate have been implicated in McCune-Albright syndrome and sporadic fibrous dysplasia of bone. Recently, we have demonstrated that the same Gs alpha mutations occur in intramuscular myxomas associated with fibrous dysplasia of bone (Mazabraud's syndrome) as well as in sporadic intramuscular myxoma. The overlapping histologic appearances of juxta-articular myxoma and intramuscular myxoma prompted us to investigate whether there is a relationship between the two entities. We studied this possibility by looking for Gs alpha mutations in juxta-articular myxoma using polymerase chain reaction (PCR) to amplify appropriate genomic DNA fragments extracted from formalin-fixed, paraffin-embedded specimens of five juxta-articular myxomas, followed by single-strand conformation polymorphism analysis. Using these techniques, no aberrant bands were detected in any of the five juxta-articular myxomas, indicating that they lack Gs alpha mutations. Moreover, DNA sequencing of the PCR products of two JAMs showed no abnormalities. We conclude that juxta-articular myxomas, in contrast to intramuscular myxomas, do not involve Arg 201 mutations of the Gs alpha gene, indicating that they represent distinct entities with different underlying molecular mechanisms.

Intraoral myxoid nerve sheath tumour

A case of an intraoral myxoid nerve sheath tumour of the dorsum of the tongue in a 73-year-old Caucasian male is reported. This case describes the oldest patient with this pathology to date. Immunoperoxidase staining for neuron-specific enolase (NSE) and epithelial membrane antigen (EMA) expression demonstrated the perineural origin of the lesion.

Novel cell lines established from a human myxoid malignant fibrous histiocytoma arising in the uterus

Two cell lines (Nara-H and Nara-F) with different phenotypes were established from a myxoid MFH of the uterus. In vitro, Nara-F grew in sheets showing a storiform arrangement and Nara-H in raised colonies. Although tumors generated in nude mice shared similar morphological features of abundant myxoid tumor in Nara-H and -F, the pleomorphic component was conspicuous in Nara-F. Both cell lines produced hyaluronic-acid but CD44 was expressed only in Nara-H. Estrogen receptor α (ER α) and progesterone receptor (PgR) were detected in Nara-H. Nara-F was positive for ER β and PgR. Among hormonal agents, the response to the anti-estrogen tamoxifen was more sensitive than progesterone agents. This report illustrates the characteristics of these newly established cell lines, and presents the possibility of an adjuvant hormonal therapy for MFH.

Angiomyxolipoma shares cytogenetic changes with lipoma, spindle cell/pleomorphic lipoma and myxoma

Angiomyxolipoma is a rare variant of lipoma, two cases of which have recently been described. We report on the hitherto unreported clonal chromosomal changes of a third case of angiomyxolipoma. The karyotype showed a 46,XX,t(7;13)(p15;q14),t(8;12)(q13;p13)[17]/46,XX[3]. The involvement of 13q14, 12p13, and 8q13 supports a relationship with other types of benign lipomatous and myxoid tumors.