Myxoid Tumor Research Articles

Utilization of Fluorescence In Situ Hybridization in the Diagnosis of 230 Mesenchymal Neoplasms: An Institutional Experience

Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. Morphologic patterns where FISH was used included high-grade round cell sarcomas (n = 67), nonmyogenic spindle cell sarcomas (n = 40), low-grade myxoid neoplasms (n = 34), adipocytic neoplasms (n = 20), and melanocytic neoplasms (n = 19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (88% of clear cell sarcomas were positive; all melanomas were negative). EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. FUS FISH was very sensitive in detecting low-grade fibromyxoid sarcomas (91% positive) but not specific because most myxoid/round cell liposarcomas also contain rearrangements of FUS. All atypical lipomatous tumors were positive for amplification of MDM2, whereas all lipomas were negative. FOXO1A FISH was positive in ∼70% of cases of alveolar rhabdomyosarcoma. FISH is a useful adjunct in the diagnosis of mesenchymal neoplasms.

Primitive Myxoid Mesenchymal Tumor of Infancy in a Preterm Infant

Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma.

278 Myxoid liposarcoma tumors with different chimera subtypes xenografted in nude mice are characterized by different response to trabectedin and gene expression profile

278 Myxoid liposarcoma tumors with different chimera subtypes xenografted in nude mice are characterized by different response to trabectedin and gene expression profile

Myxoid epithelioid sarcoma: a diagnostic challenge. A report on six cases

Epithelioid sarcoma (ES) is a distinct sarcoma-type with a specific morphology and immunophenotype. Whereas focal myxoid change does occur, to our knowledge only two cases of ES with diffuse myxoid stroma have been reported previously. To characterize more clearly the myxoid variant of ES, we describe six additional cases and discuss the differential diagnoses. Cases were retrieved from the authors' files and studied histologically, immunohistochemically and by molecular methods. The age of the patients, four females and two males, ranged from 16 to 74 years (median: 33 years). The neoplasms arose in an extremity (two cases), the abdominal wall, groin, perineum and shoulder (one case each). Histologically, four cases were of the conventional type, and two were of the proximal type and the immunophenotype was typical for ES. The tumour stroma, however, revealed prominent myxoid changes, ranging from 50 to 90% (median: 75%). Only one of the proximal type ES showed a SMARCB1 mutation, whereas the other tumours showed no mutation. The myxoid variant of ES represents a diagnostic challenge and may be confused with other benign and malignant myxoid neoplasms. The main differential diagnosis is myoepithelioma of the skin and soft tissue.

Radiological and pathological response following pre-operative radiotherapy for soft-tissue sarcoma

Purpose To report radiological and pathological response to neo-adjuvant radiotherapy for extremity and trunk soft-tissue sarcomas. Materials/methods Fifty patients were identified retrospectively. All patients had MRI imaging pre and post neo-adjuvant external beam radiotherapy. Tumor volumes were measured in 3D on T1 Gadolinium enhanced sequences. Pathological treatment response was quantified in terms of percentage of treatment-related necrosis for each case. Results Histopathologic responses to treatment varied from 0% to 100%. The median pathological treatment response was 67.5% for low-grade sarcomas and 50% for high-grade sarcomas. The median decrease in tumor volume was 13.8% for non-myxoid low-grade sarcomas, 82.1% for myxoid liposarcomas and <1% for high-grade sarcomas. A partial response on MRI (volume reduction ⩾ 50%) was highly predictive of a good pathological response ( p < 0.001). Patients with stable disease on imaging or volumetric progression had wide ranging pathological responses. Conclusions Soft-tissue sarcomas show significant pathological treatment responses in the form of hyaline fibrosis, necrosis and granulation tissue. Despite this, there is minimal early volumetric response to radiation, especially for high-grade tumors. Although radiological partial response was predictive of pathological response, the significance of radiological progression was unclear. Myxoid liposarcoma tumor type was predictive of both pathological and radiological tumor response.

Risk Factors of Nodal Involvement in T2 Colorectal Cancer

Because of the adverse consequences of radical resection of T2 colorectal cancer, criteria are needed for selection of patients who can safely undergo local excision without requiring additional radical surgery. We therefore conducted a retrospective study of patients with T2 colorectal cancer to identify risk factors for nodal involvement that might be used in selecting patients for local excision. We reviewed records from consecutive patients who had undergone curative resection of T2 colorectal cancer at the Department of Surgery, National Defense Medical College, Saitama, Japan, between 1985 and 2005. Data on conventional clinicopathologic variables were retrieved from pathology reports at the time of surgery, and archived slides were evaluated regarding potential risk factors such as extent of poorly differentiated component (grade I-III), myxoid cancer stroma, tumor budding, and growth pattern and invasion depth in the muscularis propria. A total of 244 patients (139 men and 105 women) treated for T2 colorectal cancer were included. Nodal involvement was found in 7 (8.4%) of 83 patients classified as grade I on the poorly differentiated component vs. 47 (29.2%) of 161 patients classified as grade II or III (P < .001). Of 148 patients negative for myxoid cancer stroma, 30 (16.9%) had nodal involvement vs. 24 (36.4%) of 42 patients who were positive for myxoid cancer stroma (P = .0011). According to multiple variable logistic analysis, significant independent risk factors for nodal involvement included poorly differentiated component (P = .002), myxoid cancer stroma (P = .032), and lymphovascular invasion (P = .022). Poorly differentiated component, myxoid cancer stroma, and lymphovascular invasion are significant independent risk factors for nodal involvement in T2 colorectal cancer. We need further study to validate these results on another data set, especially in patients with rectal cancer, and to confirm whether local resection of T2 rectal cancer is able to predict the nodal involvement before laparotomy.

Reticulated Myxoid Tumor of the Tongue: 2 Cases Supporting an Expanded Clinical and Immunophenotypic Spectrum of Ectomesenchymal Chondromyxoid Tumor of the Tongue

An ectomesenchymal chondromyxoid tumor (ECMT) is a rare neoplasm that exclusively occurs in the anterior dorsum of the tongue. The tumor consists of small round to fusiform or spindle cells with myxoid or chondroid stroma. The tumor consistently shows a positive reaction with glial fibrillary acidic protein antibodies, especially polyclonal antibodies. We report 2 cases of reticulated myxoid tumors arising in the tongue. One tumor occurred in the posterior dorsum of the tongue and another in the anterior. Both tumors showed characteristic morphology of ECMT; however, both were negative for reactions with monoclonal and polyclonal glial fibrillary acidic protein antibodies. On the basis of morphology, they are thought to be belonging to ECMT. Hence, we suggest that ECMT can show broader spectrum of clinical and immunophenotypic feature.

Adrenocortical Tumors With Myxoid Features: A Distinct Morphologic and Phenotypical Variant Exhibiting Malignant Behavior

Myxoid changes have been rarely reported both in adrenocortical adenomas and carcinomas. The recent observation by our group of an adrenal myxoid tumor with morphologically borderline features, but aggressive clinical behavior prompted us to review a series of 196 adrenocortical lesions, comprising 122 carcinomas and 74 adenomas, to define the morphologic, phenotypical and clinical characteristics of adrenocortical tumors with myxoid features. Fourteen cases, including 12 carcinomas and 2 borderline tumors, formed the basis of this report, and were characterized by a variably abundant myxoid component (from 5% to 90% of tumor) and 2 distinct cellular growth patterns: the first (10 cases), mostly associated with a predominant myxoid stromal component, was made of small cells with mild atypia arranged in cords and microcysts; the second (4 cases) was characterized by focal myxoid changes in tumors otherwise similar to conventional adrenocortical carcinoma, with large atypical cells having an eosinophilic cytoplasm and a diffuse or nodular architecture. The above mentioned patterns were absent in all adenomas reviewed. A peculiar reactivity to neurofilaments was seen, mostly associated to the presence of predominant rather that focal myxoid stromal changes, and in 40% of conventional adrenocortical carcinomas, thus representing an undescribed potential pitfall in the differential diagnosis of adrenal lesions. Myxoid adrenocortical tumors probably represent a rare but histologically and phenotipically distinct entity and, although rare cases of benign lesions are on record, they seem to be generally associated to morphologic and clinical features of malignancy.

Neurothekeoma Palpebrae: A Report of 3 Cases

Neurothekeoma palpebrae is the diagnostic term used to describe nerve sheath myxoma or neurothekeoma of the eyelid. Although these tumors are not uncommonly found in the head and neck region, eyelid involvement is very uncommon. We present 2 cases of cellular neurothekeoma and 1 case of nerve sheath myxoma occurring in the eyelid. Patient 1 was a 13-year-old girl with a left upper eyelid lesion of 6-months duration. Microscopic examination disclosed a cellular neurothekeoma with mild myxoid change and osteoclast-like multinucleated cells. Tumor cells infiltrated the orbicularis oculi muscle. The tumor cells were immunopositive for NKI.C3, CD34, and focally for S-100 protein. Multinucleated cells were reactive to CD68. Mart-1, smooth muscle actin, CD31, keratin, desmin, myogenin, synaptophysin, and neurofilament protein (NFP) were negative. Patient 2 was a 4-year-old girl with a left upper eyelid lesion diagnosed clinically as a chalazion. The lesion was incised. Five months later, the patient returned with a firm 5.5-mm nodule at the site. Excision revealed cellular neurothekeoma invading the orbicularis oculi. Tumor cells were NKI.C3 immunopositive and S-100 protein negative, and the multinucleated cells were CD68 positive. Patient 3 was a 70-year-old woman with a 10-year history of a subcutaneous right lower eyelid nodule which had recently changed color. The excised specimen demonstrated a hypocellular, well-circumscribed myxoid tumor surrounded by a thin rim of fibrous connective tissue. Tumor cells contained moderate amounts of eosinophilic cytoplasm with irregular, hyperchromatic nuclei. Nucleoli and mitotic figures were not apparent. Tumor cells were NKI.C3 negative, and S100 protein and glial acidic fibrillary protein positive, consistent with a nerve sheath myxoma. Including our 3 cases, 10 cases of nerve sheath myxoma and neurothekeoma occurring in the eyelid have been reported the English language literature. Although uncommon, these lesions should be kept in the differential diagnosis of eyelid tumors that can masquerade as chalazia.

Giant paravertebral myxoma

The study design includes case report and clinical discussion. The objective was to describe a rare case of a giant intramuscular myxoma (IMM) presenting as a mass in the paravertebral muscles. Myxoma is a rare benign soft tissue tumour of mesenchymal origin. Although intramuscular presentation is common, they are rare in the paravertebral muscles and are characteristically <5cm in length. We report the clinical and imaging features in a 70-year-old woman presenting with back pain, asymmetry of the waist and a mass in right paravertebral region. This was originally misdiagnosed as a juxtafacet synovial cyst after CT-guided biopsy. The mass was excised en bloc and sent for histology. This revealed a low-grade myxoid neoplasm with features of an IMM. The patient went on to make a complete recovery. To our knowledge, this is only the fifth case of paravertebral IMM reported in the literature and at approximately 15cm in length may be the largest encountered in clinical practice.

Primary Myxoid Liposarcoma of the Ovary in an Adolescent Girl: A Case Report

A 13-year-old girl presented with pelvic pain and imaging revealed a large right ovarian cystic mass. Histologic examination showed a malignant myxoid tumor with chicken-wire vasculature characteristic of a myxoid liposarcoma. The morphologic appearances were supported by the presence of the rearrangement of the CHOP gene demonstrated by interphase fluorescent in situ hybridization. There was no evidence that this tumor represented metastatic disease. To the best of our knowledge, primary ovarian myxoid liposarcoma has not been previously reported in the English literature. We present the case and briefly discuss the differential diagnosis.

Fine‐needle aspiration in myxofibrosarcoma: Experience of Institut Curie

Myxofibrosarcoma (MFS) is a well-established nosologic entity different from the myxoid variant of malignant fibrous histiocytoma. In an attempt to better define the representative cytologic criteria of MFS, we undertook a review and a reanalysis of a series of 14 cytology samples in 12 patients whose tumors were diagnosed as MFS.Using FNA technique and reviewing the original diagnoses, 11 cases were diagnosed as malignant and three as benign tumors. The cytologic diagnosis of MFS was accurate in seven cases (2 primary tumors, 4 recurrences, and 1 metastasis). Four cases were classified malignant myxoid sarcoma (1 primary and 3 recurrences), whereas three cases (2 primary and 1 recurrence) were false-negative.The smears were cell-rich in 12 cases and cell-poor in two cases. They were constantly composed of isolated and regular small spindle-shaped and stellated cells with elongated nuclei containing small inconspicuous nucleoli. Cytoplasm was pale with elongated processes. Clusters of wavy spindle-shaped cells, round cells without specific pattern, moderate cytonuclear atypia, and abundant myxoid background as well as curvilinear vascular structures were always seen. In the vast majority of cases, the cytologic distinction of MFS from other low-grade myxoid lesions is difficult. Entities such as myxoid MFH, myxoid liposarcoma (MLP), myxoid DFSP, and myxoma should be considered in the differential diagnosis. The cytological misdiagnosis is of limited clinical consequence because FNA findings suggestive of a myxoid tumor will be indicative for a surgical removal followed by the histopathological analysis.

Clinico-pathological features of breast myxoma: report of a case with histogenetic considerations

We herein report the clinical, radiological, and pathological findings of a rare case of myxoma occurring in the breast parenchyma of a 75-year-old female. The tumor was incidentally detected at a mammographic screening and, ultrasonographically, presented as an ovoid mass. Histologically, an encapsulated hypocellular, myxoid tumor with low vascularization was evident. Neoplastic cells were round- to spindle/stellate-shaped and stained with vimentin and focally with calponin. We emphasize that morphology remains preeminent in the diagnosis of a breast myxoma, while immunohistochemistry may assist in ruling out other tumor entities. Differential diagnosis with all benign and malignant myxoid lesions, primarily occurring in the breast, is provided. The histogenesis of breast myxoma is unknown. The lack of expression of desmin, alpha-smooth muscle actin, CD34, CD99, CD10, bcl-2 protein, and estrogen/progesterone/androgen receptors, all markers characteristically expressed by "the benign spindle cell tumors of the mammary stroma," would suggest that breast myxoma does not fall into this tumor category and that its putative precursor mesenchymal cell resides in the interlobular stroma.

Angiomyofibroblastoma of the spermatic cord: a case report

IntroductionAngiomyofibroblastoma is a benign soft tissue tumor with tendency to arise in the vulva.Case presentationWe report a 36-year-old Greek Caucasian man presenting with a left inguinal painless mass. This is the second case of angiomyofibroblastoma of the spermatic cord. At operation, a 4.5 cm well-circumscribed solid tumor was found adherent to the spermatic cord. The tumor consisted of spindle-shaped cells proliferating in short fascicles between numerous medium-sized blood vessels with thin and hyalinized walls. Neoplastic cells had eosinophilic cytoplasm with neither mitotic figures nor nuclear atypia. The stroma included abundant mast cells and few mature lypocytes. Immunostaining showed positivity for vimentin, CD34, desmin and smooth muscle actin. Our patient was treated by simple excision and was followed up for five years with clinical examination and ultrasonography, revealing no evidence of local recurrence or metastasis.ConclusionThis unusual neoplasm should be distinguished from aggressive angiomyxoma and other myxoid malignant tumors with widespread metastatic potential.

Huge pedunculated angiomyofibroblastoma of the vulva

We present the case of a huge pedunculated benign mesenchymal myxoid tumor that developed on the right labia majora of a 48-year-old-woman. The excised mass weighed 4534 g and was 23 cm in diameter; the cut surface was yellowish and elastic. Microscopic examination revealed spindle and plump oval tumor cells arranged with abundant capillary vessels in an edematous stroma. Immunohistochemical staining showed that the tumor cells were positive for vimentin, desmin, estrogen receptor, and progesterone receptor, but negative for alpha-smooth muscle actin, CD34, CD45, CD68, and S-100. Based on these features, the pathological diagnosis was angiomyofibroblastoma. A pedunculated angiomyofibroblastoma is extremely rare and, to the best of our knowledge, this is the biggest such tumor in terms of size and weight reported to date. It is especially important in such a huge mass greater than 10 cm that angiomyofibroblastoma is differentiated from aggressive angiomyxoma, which is a deeply invasive and recurrent neoplasm.

Mucocèle fronto-ethmoïdale

Intracranial myxoid mesenchymal tumors (IMMTs) carrying an EWSR1-CREB gene family fusion are extremely rare and have only been identified in 10 previous reports. All but one has been found in children or young adults. Although there appear to be similarities to a myxoid variant of angiomatoid fibrous histiocytoma (AFH), clear histologic differences exist that appear to distinguish IMMTs as a distinct and novel entity. Previous reports have lacked detailed long-term follow-up and recommendations regarding treatment approach.This case describes a 48-year-old woman who presented with a left intraventricular mass that was identified on histology as an IMMT with an EWSR1-ATF1 gene fusion. After initial resection, the tumor demonstrated local recurrence. Repeat resection was performed followed by immediate demonstration of local and distant tumor recurrence. Histologic analysis of the tumor demonstrated a myxoid mesenchymal tumor distinct from AFH. Fractionated stereotactic radiation therapy was administered after the second resection, and tumor control was achieved at 1 year.Intracranial myxoid mesenchymal tumor is a novel and rare entity that has been previously identified in only 10 cases. This case is particularly remarkable because it is only the second IMMT case to occur in a middle-aged adult and shares striking similarities in clinical presentation to the previously reported case. Given the aggressive recurrence seen with the presented case, we recommend the treatment plan to be surgical resection followed by adjuvant radiation therapy.

Tumeurs myxoïdes des tissus mous de la face

Myxoid tumors are a group of heterogeneous lesions with a voluminous myxoid matrix, which may affect any tissue in the body. The frequency of these tumors depends on their localization. On the face, the localization is most often osseous. In this case, they are odontogenic myxoma. Localization in facial soft tissues is very rare. These tumors are benign but with a high potential for local aggressiveness and recurrence. They must be treated surgically with radical exeresis and long-term follow-up.

Uterine smooth muscle tumours: an update

Smooth muscle neoplasms of the uterus are classified by specific criteria that differ from those generally applied to tumours arising in other anatomic sites. This presentation will discuss the diagnostic criteria for leiomyoma, atypical leiomyoma, and leiomyosarcoma, as well as the clinical implications of each diagnostic category. The morphologic spectrum of leiomyoma, including ‘morphologic variants' that may mimic malignancy, will be included. Distinct criteria for myxoid and epithelioid uterine smooth muscle tumours and the use of the descriptive diagnosis ‘smooth muscle neoplasm of uncertain malignant potential (STUMP)' will also be addressed. Finally, we will discuss differential diagnostic considerations such as endometrial stromal sarcoma and uterine PEComa.

A Case of Recurrent Superficial Acral Fibromyxoma

Superficial acral fibromyxoma (SAFM) is a rare myxoid tumor that was first described in 2001. The presence of a very slow growing solitary tender mass in the subungual area is the typical clinical feature at presentation. Histopathologically, SAFM is composed of stellate cells in a myxocollagenous matrix with a poorly circumscribed margin. This tumor is thought to be benign, but its natural course is not fully understood. We describe a 15-year-old patient with recurrent SAFM and discuss the proper treatment and follow up.

PIM‐1 kinase expression in adipocytic neoplasms: diagnostic and biological implications

The differential diagnosis of soft tissue tumours poses a considerable challenge for pathologists, especially adipocytic tumours, as these may show considerable overlap in clinical presentation and morphological features with many other mesenchymal neoplasms. Hence, a specific and reliable marker that identifies adipocytic differentiation is much sought. We investigated the immunohistochemical expression of PIM-1 kinase in 35 samples of soft tissue tumours using tissue microarray technology and 49 full sections of adipocytic (n = 26) and non-adipocytic tumours (n = 23). Benign and malignant adipocytic tumours showed strong expression of PIM-1 while the non-adipocytic tumours were either negative or showed only weak staining for the protein. In myxoid liposarcomas, PIM-1 showed a distinct, unique vacuolar staining pattern, clearly outlining fine cytoplasmic lipid vacuoles. By contrast, non-adipocytic myxoid tumours (myxoma, chordoma and myxoid chondrosarcoma) did not show this vacuolar pattern of PIM-1 staining, although vacuolated cells were present on H&E. This differential expression was confirmed at a gene expression level in selected cases. Our results indicate that the expression of PIM-1 in adipose tissue may be a useful marker of adipocytic differentiation, in particular if the staining is both of high intensity and present in a unique, vacuolar pattern.