Mixoma auricular gigante como diagnóstico diferencial de disnea: a propósito de un caso y revisión de la literatura / Giant atrial myxoma as differential diagnosis of dyspnea: a case report and literature review

Cardiac myxomas are the most common benign primary tumors and are most often located in the left atrium at the level of the interatrial septum, with the characteristic of being pedunculated and highly mobile, which is why they sometimes interfere with the functioning of the mitral valve, generating variable degrees of stenosis and mitral insufficiency. Diagnosis is by echocardiography and treatment is surgical resection. We present the case of a patient with a large atrial myxoma and severe double mitral lesion.

Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors.

BACKGROUND: Intramuscular / cellular myxomas and low-grade myxofibrosarcomas are two different tumor entities with a significant histological overlap, especially if dealing with small biopsies. Despite the morphological similarities, they differ considerably in their biological behaviour. Intramuscular / cellular myxoma rarely shows signs of recurrence and never metastasizes, in contrast to myxofibrosarcoma that tends to recur more aggressively and to metastasize haematologically. Therefore, it is of great importance to distinguish these lesions - evaluation of GNAS mutation status could be of tremendous help. METHODS: We reviewed 13 cases with intramuscular / cellular myxomas. The 13 cases included 5 men and 8 women, aged from 33 to 71 years (mean age 55.5 years). Immunohistochemistry was performed as well as next generation sequencing. Ten cases were located in the lower extremities and three cases were located in the upper extremities. Two lesions were initially misdiagnosed as a low-grade myxofibrosarcoma. RESULTS: Performing next generation sequencing 12 out of 13 specimens showed a GNAS mutation. CONCLUSIONS: Our findings demonstrate that GNAS mutations are more common in intramuscular / cellular myxomas, than had been reported in literature in the past. Next generation sequencing for determining GNAS mutation status on small biopsies or diagnostically challenging cases facilitates the diagnosis of intramuscular / cellular myxoma and separates this tumor entity from its mimics.

Myxoid soft-tissue neoplasms: comprehensive update of the taxonomy and MRI features.

OBJECTIVE. The purpose of this article is to review the classification, clinical presentation, and histopathologic and MRI features of myxoid soft-tissue neoplasms. CONCLUSION. MRI is the modality of choice for characterization of myxoid soft-tissue tumors. A combination of imaging features (including certain characteristic signs), clinical features, and patient demographics can help the radiologist in coming to a specific diagnosis or in narrowing down the differential diagnoses.

Undifferentiated sarcoma of the orbit with angiomyxoid features.

A 7-month-old female infant developed a grade 3 un-differentiated sarcoma with angiomyxoid features of the right orbit. The tumor expanded rapidly 2 months after an initial sub-total resection and extended posteriorly toward the right cavernous sinus. After treatment with ifosphamide, doxorubicin, and proton beam radiation, there was no discernible residual tumor 20 months after starting chemotherapy.

The pathogenesis of ovarian myxoma: a neoplasm sometimes arising from other ovarian stromal tumors.

Ovarian myxoma is a rare distinctive benign ovarian stromal neoplasm that occurs predominantly in young women and is hormonally inactive. Although typically classified as an ovarian stromal tumor, its exact pathogenesis remains uncertain. We report 4 cases of ovarian myxoma, 3 of which were associated with another type or other types of ovarian stromal tumor and 1 occurred as a pure myxoma. In 2 cases, the myxoma arose from a sclerosing stromal tumor, and the third, most likely arose from a luteinized theca cell tumor (LTCT). Myxoid transformation of the connective tissue of the parent neoplasm appears to be a precursor of ovarian myxoma in some instances. We believe that the occurrence of trisomy 12 or other genetic abnormalities may play a role in this transformation. Whether or not associated with another type of ovarian stromal tumor, ovarian myxoma can be suspected macroscopically by its cystic gelatinous appearance and sharp circumscription. The most important differential diagnosis is a low-grade sarcoma with myxomatous features. We believe that myxomas arising from different anatomic sites likely are genetically, histologically, and biologically distinct. For purposes of classification, they should be considered as separate tumor types.

[Benign odontogenic ectomesenchymal tumors]. / Benigne odontogene ektomesenchymale Tumoren.

The group of odontogenic ectomesenchymal tumors consists of odontogenic fibroma (epithelium-rich and epithelium-poor types), odontogenic myxoma, and cementoblastoma. Whereas odontogenic fibromas and cementoblastomas are very rare lesions, odontogenic myxoma is the fourth common odontogenic tumor, preceded only by keratocystic odontogenic tumor, the odontomas, and ameloblastoma. The diagnosis of cementoblastoma rests on its connection to the root of a tooth. The differentiation of odontogenic fibroma and myxoma from other lesions, especially from normal structures such as dental follicles and papillae, may be challenging if the X-ray appearance (localized osteolysis containing a tooth) is not appreciated and subtle histological clues (remainders of inner enamel epithelium at the surface of the lesion, dentin fragments) are not properly recognized. While odontogenic fibromas have almost no tendency for recurrence and are treated by enucleation or local excision, cementoblastomas and especially odontogenic myxomas have a high percentage of recurrence if intralesional procedures are applied. Hence, complete resection with free margins is recommended--at least for larger odontogenic myxomas and, especially, lesions in the maxilla--to prevent further extension to the orbita or base of the skull.

Radiographic examination of 41 cases of odontogenic myxomas on the basis of conventional radiographs.

OBJECTIVE: There are some different radiographic appearances of odontogenic myxoma that have not been reported in the published literature. The purpose of this article is to offer rare views of odontogenic myxomas and analyse the characteristics of the radiographic appearances. MATERIALS AND METHODS: We reviewed the radiographic appearances of 41 cases of odontogenic myxomas on conventional radiographs, recruited from patients who visited the Department of Oral Radiology, West China College of Stomatology, Sichuan University between 1964 and 2005. The diagnoses of the cases were verified by histopathology. RESULTS: On conventional radiographs, odontogenic myxomas presented varying radiographic appearances, which could be divided into six types as follows: Type I-unilocular; Type II-multilocular (including honeycomb, soap bubble and tennis racquet patterns); Type III-involvement of local alveolar bone; Type IV-involvement of the maxillary sinus; Type V-osteolytic destruction and Type VI-a mix of osteolytic destruction and osteogenesis. CONCLUSION: Odontogenic myxoma has variable radiographic appearances on conventional radiographs. This classification system helps us better understand the radiographic appearances of odontogenic myxoma on conventional radiographs.

Angiomyxoid tumor with an intermediate feature between cellular angiofibroma and angiomyofibroblastoma in the male inguinal region.

Angiomyofibroblastoma (AMFB) and cellular angiofibroma (CA) are angiomyxoid tumors which infrequently arise in the female vulvovagina and each has been proposed to be a distinct clinicopathological entity. The former in male genitalia is exceedingly rare and has been described as its male analog or under the name of male AMFB-like tumor, while the latter in men has not been reported. We describe an angiomyxoid tumor which appeared in the inguinal region of 72-year-old man. The present case had a histopathological characteristic and immunophenotype intermediate between AMFB and CA. Male genital angiomyxoid tumors share many immunopathological features with their female counterparts, suggesting that they are male homologs rather than analogs. Immature mesenchymal cells with a potential of the multilineage differentiation might be promoted toward neoplastic myoblasts, fibroblasts and adipocytes, resulting in genital angiomyxoid tumors showing a broad spectrum in the immunopathological phenotype.

The cytopathology of soft tissue mxyomas: ganglia, juxta-articular myxoid lesions, and intramuscular myxoma.

We studied the practicality of issuing a cytologic diagnosis of myxoma/juxta-articular myxoid lesion/ganglion (MJG) by reviewing all fine-needle aspiration (FNA) biopsy specimens of soft tissue masses in our files with diagnoses of myxoma, myxoid cyst, myxoid lesion, ganglion, or ganglion cyst. The control group was soft tissue aspirates with abundant myxoid stroma. Of 39 cases with a cytologic diagnosis of soft tissue MJG, 15 had subsequent tissue biopsy or complete resection of the mass; 24 had clinicoradiologic follow-up. All cases except 1 (fat necrosis) were diagnosed correctly as benign myxoid lesions. We grouped MJG aspirates into 3 subtypes based on clinicoradiologic features: soft tissue ganglion/ganglion cyst (12 cases), juxta-articular myxoid lesion (16 cases), and intramuscular myxoma (11 cases). MJG aspirates showed few, subtle cytopathologic differences among subtypes. They characteristically had a viscous, gelatinous quality when expressed from the needle onto the glass slide. The typical smear contained a film of paucicellular, often finely granular, myxoid stroma, that contained few cells, usually macrophages or bland spindle cells. Control group aspirates always contained cellular components that allowed distinction from MJGs. The cytopathologic diagnosis of MJG lesions is accurate; FNA biopsy can be used to subtype MJGs into 3 categories when clinicoradiologic features are known.

Myxoma is not a single entity: a review of the concept of myxoma.

Myxoid lesions can be subdivided into (1) mainstream myxomas of soft tissues, (2) mainstream myxomas located outside the soft tissue, (3) inadequately substantiated myxomas, (4) myxoid soft tissue tumors or lesions not regarded as myxomas, (5) myxoid fatty conditions, (6) other soft tissue lesions and tumors that are sometimes markedly myxoid, (7) other soft tissue tumors in which myxoid foci may be seen, and (8) nonneoplastic myxoid conditions of soft tissue. More than 60 such conditions are listed and the five entities regarded as mainstream soft tissue myxomas (namely, intramuscular myxoma, juxta-articular myxoma, superficial angiomyxoma, aggressive angiomyxoma, and myxoid neurothekeoma [myxoma of nerve sheath]) are reviewed in detail. Intramuscular myxoma is exclusively intramuscular, usually affects middle-aged women, is most commonly located in the thigh, and does not recur after simple excision. Multiple intramuscular myxomas are rare and are usually associated with monostotic or polyostotic fibrous dysplasia and Albright's syndrome. Juxta-articular myxoma histologically resembles an intramuscular myxoma, but involves periarticular tendons, ligaments, joint capsules, muscles, and even the subcutis of adults. It may be associated with osteoarthritis of the adjacent joint. Some 30% recur locally. Superficial angiomyxoma also has been called cutaneous myxoma. It affects all ages, with a peak incidence in the third and fourth decades; arises in the trunk, lower limb, head, and neck regions; and usually measures less than 5 cm in diameter. Epithelial components are present in approximately 25% of tumors. Approximately one third recur locally, but there have been no metastases. Patients with multiple lesions may have the Carney complex. Aggressive angiomyxoma usually arises in the pelvic and perineal regions and affects females seven times as often as males. Tumors usually measure 10 cm or more in diameter, invade surrounding tissues, and recur in approximately 50% of cases. None have metastasized. Myxoma of nerve sheath (the myxoid variant of neurothekeoma) preferentially affects the dermis and subcutis of the cervicofacial areas and shoulders of young women. Most patients are younger than 40 years; one third of them are in the second decade of life. The majority of tumors measure between 0.5 and 1.5 cm. Only three of 102 cases compiled from the two largest published series recurred; none metastasized. The different clinicopathologic features and behavior of these five mainstream myxomas indicate that myxoma is not a single entity.

Myxoid tumours of soft tissue.

Myxoid tumours of soft tissue encompass a heterogeneous group of lesions characterized by a marked abundance of extracellular mucoid (myxoid) matrix. This group of tumours demonstrate significant variability in their biological behaviour thus including tumours which are entirely harmless, tumours with a tendency to recur locally but not metastasize, and malignant tumours. There appears to be a considerable degree of overlap clinically and morphologically between the various tumour types in this group, generating potential diagnostic problems for the clinician and pathologist alike. While diligent microscopy remains the basis of diagnostic pathology, the continuous developments and refinements within the fields of immunohistochemistry and molecular cytogenetics are providing substantial new information, allowing the development of new diagnostic criteria and hence facilitating an accurate diagnosis. It is the aim of this short review to highlight the most prevalent soft tissue tumours with predominantly myxoid morphology, to describe the features by which the majority of these myxoid lesions may be identified, and to discuss the differential diagnosis where appropriate.

Superficial angiomyxoma presenting as a groin hernia in a male toddler.

Angiomyxomas are a group of relatively rare mesenchymal myxoid tumors. There are three types: superficial angiomyxoma, aggressive angiomyxoma, and angiomyofibroblastoma. These tumors have a predilection for occurring in the perineum of middle aged females. The youngest reported case was in a 4-year-old female. The youngest male patient was 8 years old. This report presents a case of a 2-year-old male with a groin superficial angiomyxoma mimicking an inguinal hernia. Wide local excision was performed without recurrence at 3-month follow-up. The clinical and pathologic characteristics of this group of tumors are discussed.

[Some new concepts of cardiac myxoma].

The surgical treatment of cardiac myxoma in 211 consecutive cases (single tumor in 204 cases, multiple in 7, and recurrent in 3) from Dec. 1975 through Dec. 1993 was reviewed. Totally 228 myxomas were found and 215 operations performed. Data from this series and literature show that there were some complicated cases so that cardiac myxoma can not be simply regarded as a benign tumor only, but may be classified into two kinds: simple (or sporadic) cardiac myxoma and complicated cardiac myxoma. The latter includes myxoma complex, familial myxoma, and myxoma from multicenters. The clinical features, main points of diagnosis and surgery are concisely summarized.

[Left atrial myxomas: clinical characteristics, evaluation and considerations in classifying tumors].

Eleven patients underwent surgical excision for left atrial myxomas. Clinical symptoms, coronary angiographic findings and operative procedures were evaluated. Myxomas were classified into two types based on macroscopical findings, and clinical characteristics of these two types were analyzed. Seven cases (64%) classified as "lobular-type myxomas" were seen as lobulated, gelatinous and fragile. Four cases (36%) were classified as "round-type myxomas" were round and elastic soft. Primary symptoms included dyspnea on exertion in five cases (45%) and neurological disturbances in six cases (55%). Brain emboli were found in four patients by CT scan, and were classified as lobular-type myxomas. These eleven myxomas successfully removed in all cases. Four of these myxomas, which were pedunculated with fine fibrous stalks, were shaved along the base at the atrial septum or free wall. Others were excised completely along with a portion of the adjacent septum. Microscopic examination of the operative specimens revealed that two lobular-type myxomas with broad-based attachment to left atrial septum had invaded the atrial septum. All patients are doing well and have had no signs of myxoma recurrence at postoperative periods ranging from 10 months to 12 years (mean follow-up 5.3 years). Seven patients underwent selective coronary angiography due to a diagnosis of a coronary artery disease. All coronary angiograms were normal in all cases. In five (71%) of these seven, abnormally dilated atrial branches were seen as supplying the tumor. In two cases with round-type myxomas, neovascularity was evident and was made up of clusters of tortuous vessels with tumor blush.(ABSTRACT TRUNCATED AT 250 WORDS)

Recurrent cardiac myxoma: the surgical implications of two distinct groups of patients.

15 consecutive cases where patients (11 female, 4 male) had undergone surgical excision of cardiac myxoma were reviewed. The 11 survivors were re-assessed by trans-oesophageal echocardiography and recurrent myxoma was detected in 2 patients. These two were the only patients who had originally presented with multiple myxomas. Analysis of these cases in conjunction with 26 previously reported cases of recurrence identifies two distinct groups of patients. In one group (12 cases, mean age 48.7 years) recurrence occurred at the site of previous excision, typically following the removal of a single septal myxoma by partial thickness excision. In the second group, which includes our two cases, (16 cases, mean age 30.6 years) recurrent myxoma was found distant to the site of previous excision, typically in younger patients who had multiple myxomas at original operation. These results suggest that 1) single myxomas should be removed by full thickness excision 2) in younger patients with multiple myxomas surgery should be as radical as possible.