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PubMed2026

Emerging Molecularly Defined Bone and Soft Tissue Diagnoses: When Do They Matter?

With the rapid advancement of molecular pathology and the explosion of genomic data, our understanding of neoplasms continues to evolve. In this review, we introduce 3 recently classified mesenchymal neoplasms, the categorization of which was refined based on their underlying molecular genetic profiles. These entities were recently highlighted by the senior author at the United States and Canadian Academy of Pathology Long Course. To underscore the importance of their proper recognition, this review was prepared to reach a broader audience. Recognition of these tumors is particularly important because their mimickers often have markedly disparate prognoses and management strategies, making accurate diagnosis critical. The 3 entities discussed in this study are the following: (1) SRF-rearranged myoid neoplasms (formerly cellular myofibroma), (2) superficial CD34-positive fibroblastic tumors, and (3) kinase-altered spindle cell neoplasms. This review aimed to highlight the key clinicopathologic features of these tumors to facilitate accurate diagnosis, discuss ancillary studies that assist in navigating the differential diagnoses, and outline strategies to avoid common diagnostic pitfalls. Finally, we emphasize when molecular characterization may be necessary to guide diagnosis and support appropriate clinical management.

Humans↗
PubMedDate not supplied

New entities in cutaneous soft tissue tumours.

Connective tissue tumours represent a significant group among biopsied skin lesions and manifest a wide range of morphological patterns. While the majority are easily diagnosed, notably most fibrous histiocytomas and neural lesions, a proportion pose considerable diagnostic difficulty. With the increasing recognition and characterisation of previously undescribed entities within the family of soft tissue tumours in recent years, the number of unclassifiable lesions should diminish. The ultimate aim of accurate recognition and classification is to provide appropriate clinical care based on reasoned prediction of a given lesion's behaviour. With this in mind, we wish to briefly review herein some of the more recently characterised dermal connective tissue lesions, including plexiform fibrohistiocytic tumour, cellular fibrous histiocytoma, spindle celled atypical fibroxanthoma, adult myofibroma, dermatomyofibroma, so-called cellular neurothekeoma, ectopic meningothelial hamartoma, tufted angioma, sinusoidal haemangioma and bacillary angiomatosis.

Adult↗
PubMed1993

[Acquired benign myofibroma of the skin (adult myofibroma)].

Adult myofibroma is an acquired skin tumour that is histologically identical to infantile myofibroma. Histologically, four tumour variants can be distinguished: leiomyoma type, cellular spindle cell type, haemangiopericytoma or glomus type, and biphasic type. Practical help in diagnosis is supplied by the hamartomatous composition of the leiomyoma-type, hyalinized spindle cell whorls, endothelium-lined haemangiopericytoma-like vascular channels, and desmin-negative, muscle-actin-positive myofibroblasts, which may show spindle cell or undifferentiated mesenchymal cell differentiation. The tumours clinically present as firm, occasionally bluish cutaneous or subcutaneous nodules. Adult myofibroma should be recognized as a distinct benign neoplasm, most probably of vascular origin. Clinicians and dermatopathologists must be aware that lesions identical to those of infantile myofibroma can occur in adults.

Adolescent↗
PubMed1996

Infantile fibrosarcoma: complete excision is the appropriate treatment.

BACKGROUND: Infantile fibrosarcoma and its pathological variants are unusual childhood tumors. During the past 25 years, 18 children with these lesions were seen at our institution. METHODS: These patients' records were analyzed to determine clinical and pathological findings and outcome. RESULTS: The mean age at diagnosis was 7 months. There were 16 boys and 2 girls. The sites of tumor at presentation were: Extremity, head, trunk, and pelvis. Pathological findings were: fibrosarcoma, myofibroma, and fibromatosis. Histologic characteristics varied from benign hypocellular to more cellular pleomorphism. The initial surgical procedure was a complete excision in 16. Of those patients with complete removal, 6 recurred and all had secondary reexcision. In addition to excision, 3 patients received adjunctive therapy; chemotherapy in all 3 and radiation in 2. Sixteen (89%) children survived, including 4 of 6 with recurrent tumor and 2 of 2 with incomplete initial resection. Two children ages 6 and 9 months at diagnosis died of progressive recurrent tumor at 1 month and 6 years from initial diagnosis, despite operative therapy, chemotherapy, and radiation therapy. Both had paraspinal tumors that were removed completely. Pathological examination revealed spindle cell tumors infiltrating muscle. Neither clinical nor histologic findings distinguished surviving from nonsurviving patients. CONCLUSIONS: Fibrosarcoma occurring in infants has an excellent outcome despite histologic findings. Initial complete excision should be attempted in all children. Recurrence indicates a more aggressive variant and warrants more aggressive complete reexcision wherever possible. Adjunctive therapy probably has no benefit. The occasional death indicates the need for close follow-up.

Female↗
PubMed2000

Myofibromas presenting in the oral cavity: a series of 9 cases.

OBJECTIVES: Solitary myofibromas are well described in the head and neck, but oral examples are less well known, and jaw lesions are rare. We studied the clinicopathologic features of a series of such lesions. DESIGN: Nine cases of oral myofibromas were retrieved from archives and studied. RESULTS: Two cases involved the mandible (intraosseous), 3 involved the gingiva, 2 involved the tongue, and 2, the hard palate. There were 4 men and 5 women, aged 9 months to 50 years (mean, 24 years; median, 27 years). Deep lesions showed typical histology, with paucicellular lobules and intervening hemangiopericytoma-like zones. In ulcerated submucosal lesions, these features blended superficially with cellular fascicles. The tumors expressed smooth muscle actin but lacked desmin and S100 protein. None of the tumors recurred or metastasized. CONCLUSION: Myofibromas appear in osseous, intramuscular, and submucosal aspects of the oral cavity. Ulceration imparts a fascicular appearance that makes superficial biopsy specimens difficult to interpret.

Actins↗
PubMed2005

[Clinicopathologic characteristics of myopericytoma].

OBJECTIVE: To investigate the clinicopathologic characteristics and differential diagnosis of myopericytoma. METHODS: Six cases of myopericytomas were analyzed by light microscopy and immunohistochemistry (LSAB detection method). RESULTS: Tumors from 3 females and 3 males were found on the extremities and chest wall. The ages of these 6 patients ranged from 16 to 58 years. Histologically, all tumors were unencapsulated. The neoplastic cells were oval to spindle shaped with eosinophilic cytoplasm, had a myoid appearance and showd areas of concentric perivascular proliferation around lesional blood vessels which were present with focal myxoid stroma. Morphologically in some cases the tumor overlap myofibroma, hemangiopericytoma or glomus tumor. One tumor was located entirely within the lumen of a vein. In another case, the tumor displayed cellular pleomorphism, mitotic activity, necrosis should be diagnosed as malignant myopericytoma. The neoplastic cells were positive for SMA and negative for CD31, CD34, S-100, and CK. CONCLUSIONS: Myopericytoma is composed of oval to spindle shaped myoid cells with a striking tendeny for concentric perivascular growth. These cells differentiate towards perivascular myoid cells or myopericytes. Extremely rare malignant myopericytoma exist.

Actins↗
PubMed1996

Cutaneous adult myofibroma: a vascular neoplasm.

Infantile myofibromatosis is a distinctive type of fibromatosis that usually develops during the immediate perinatal period. There are variants with solitary and multiple tumors. Lesions confined to the skin, soft tissue, and bone carry a good prognosis, showing spontaneous regression. The prognosis, however, is much less favorable when visceral lesions are present and the outcome may be fatal. Only recently it became obvious that there is an adult counterpart of infantile myofibromatosis, characterized by solitary lesions that have a predilection for involve the dermis and show no tendency to regression, although they have an entirely benign biological behavior. These lesions have been named cutaneous myofibroma or solitary myofibroma of adults. We have studied the clinical, histopathological and immunohistochemical characteristics of 53 examples of cutaneous adult myofibroma. In addition, 2 cases were examined ultrastructurally. The patients were mostly adults with ages ranging from 6-83 years. The lesions presented as solitary, usually painless nodules of variable duration on the skin, usually located on the extremities. Histopathologically, four patterns were identified: nodular or cellular type, multinodular or biphasic type, leiomyoma-like or fascicular type, and vascular type. A correlation between the histopathologic pattern and the lesional age was observed: vascular type of cutaneous adult myofibroma in early lesions, nodular and multinodular lesions in fully developed lesions, and leiomyoma-like or fascicular type in late lesions. Immunohistochemically, the spindle cells were desmin negative, but expressed immunoreactivity for vimentin, pan-smooth muscle actin, and alpha-smooth muscle actin. Ultrastructurally, neoplastic cells showed characteristics of undifferentiated mesenchymal cells with features of fibroblasts, myofibroblasts and pericytes. Primitive vascular formations were seen in the form of irregular clefts between adjoining cells. We conclude that cutaneous adult myofibroma is a little-known benign vascular neoplasm probably derived from myopericytes.

Adolescent↗
PubMed2006

Myopericytoma of skin and soft tissues: clinicopathologic and immunohistochemical study of 54 cases.

Perivascular neoplasms comprise traditionally glomus tumor and hemangiopericytoma (HPC). Whereas glomus tumor represents a well-defined entity, the existence of HPC as a separate entity has been questioned because a number of neoplasms of different lines of differentiation are characterized by a HPC-like vascular growth pattern. Myopericytoma represents a recently delineated entity showing a HPC-like vascular pattern. A large series of myopericytoma of skin and soft tissues has been analyzed to further characterize the clinicopathologic spectrum of this entity. Fifty-four cases of myopericytoma of skin and soft tissues were retrieved and the histology reviewed. Immunohistochemical stainings using alpha-smooth muscle actin (ASMA), desmin, and h-caldesmon antibodies were performed, and clinical data and follow-up information were obtained from referring pathologists. Thirty-four patients were male and 18 were female (gender was unknown in 2 cases). Patient age ranged from 13 to 87 years (median, 52 years). The lower extremities were most commonly affected (26 cases) followed by the upper extremities (16 cases), the head and neck region (4 cases), and the trunk (2 cases); exact location was unknown in 5 cases. In 20 cases, the neoplasms were confined to the dermis, in 6 cases an extension into the subcutis was seen, and 24 as well as 4 cases arose in subcutaneous and deep soft tissue, respectively. Two cases were multicentric; and in 1 of these patients, multiple anatomic regions were involved. Histologically, in all cases, numerous thin-walled vessels and a concentric, perivascular arrangement of ovoid, plump spindled to round myoid tumor cells was seen. However, a broad morphologic spectrum ranging from hypocellular, fibroma-like (3 cases), myofibroma-like (2 cases), angioleiomyoma-like (12 cases), and HPC-like neoplasms (13 cases) to classic myopericytomas (14 cases) and immature, cellular lesions (2 cases) was noted. In addition, 2 neoplasms with focal glomoid features, 5 intravascular, and 1 malignant myopericytomas were found. Prominent cytologic atypia and increased proliferative activity (>3 mitoses/10 high power fields) was seen in 4 and 2 cases, respectively. Immunohistochemically, all cases tested stained positively for ASMA. In addition, 29 of 32 cases tested stained positively for h-caldesmon, whereas desmin was only focally positive in 3 of 33 cases. Follow-up information was available in 46 cases (range, 7-168 months; median, 48 months). Despite marginal or incomplete excision in 23 of 46 cases, only 2 neoplasms (1 malignant and 1 intravascular myopericytoma) recurred locally (within 1 and 4 years, respectively). Despite overlapping morphologic features to angioleiomyoma and myofibroma, myopericytoma represents a distinct perivascular, myoid neoplasm of skin and soft tissues, characterized by a broad morphologic spectrum of concentrically, perivascularly growing myoid tumor cells that stain positively for ASMA and often for h-caldesmon, whereas desmin is usually negative. Most cases of myopericytoma behave in a benign fashion, but local recurrences and rarely metastases may occur in atypical and malignant neoplasms.

Adolescent↗
PubMed1999

Pediatric myofibromatosis of the head and neck.

OBJECTIVES: To examine the clinical and pathological features of pediatric myofibroma of the head and neck and to discuss the challenges in diagnosis and treatment. DESIGN: A retrospective search of pathology department and clinical records to identify patients with myofibroma and a retrospective review of English-language medical publications. SETTING: Academic medical center. PATIENTS: Thirteen pediatric patients (aged from birth to 8 years old) diagnosed as having myofibroma of the head and neck. RESULTS: Nine of 13 patients were cured with conservative surgical excision. Four patients (31%) had recurrence, requiring multiple surgical procedures. One third showed spontaneous regression clinically or by histological examination. The clinical course did not parallel the histological appearance, as high cellularity and mitotic figures were commonplace among the specimens. A misdiagnosis of malignancy was not unusual in this series, as 3 patients had an initial diagnosis of fibrosarcoma, which on review was revised to myofibroma. CONCLUSIONS: Myofibromatosis is a distinct disorder among the great number of fibrous proliferations occurring in infants and children, with a particular predilection for the head and neck region. These lesions should be clearly distinguished from conventional adult-type fibromatoses (desmoid tumors), which are more aggressive. Most patients have solitary lesions that respond well to conservative surgical excision, whereas a few of these lesions behave more aggressively, requiring several surgical procedures for the management of recurrent or persistent tumor. Many of these lesions show spontaneous regression, suggesting that lesions not affecting vital functions, resulting in growth anomalies, or demonstrating rapid aggressive growth may be managed conservatively.

Biomarkers, Tumor↗
PubMed2000

Myofibromas and myofibromatosis of the oral region: A clinicopathologic analysis of 79 cases.

The clinicopathologic features of 79 myofibromas or myofibromatoses of the oral and maxillofacial region were studied. The case studies were taken from the files of the Armed Forces Institute of Pathology. The tumors affected 44 males and 33 females (gender was unknown in 2 cases). The patients' ages at diagnosis ranged from birth to 84 years, with mean and median ages of 26.6 and 22 years, respectively. Four patients had infantile myofibromatosis; 2 had extraoral bone lesions and 2 had multiple subcutaneous tumors. In descending order, tumors involved the mandible, tongue, lips, cheek or buccal area, maxilla or palate, pterygomandibular raphae, floor of mouth, and submandibular gland. One third of the tumors affected the bones of the jaws; 12 were central and 15 were cortical or periosteal. All medullary tumors occurred in patients under age 18. On gross examination, the lesions were firm, homogeneous or whorled, white-grey fibrous masses that ranged in size from 0.5 to 5.0 cm. Microscopically, all tumors demonstrated a pattern of nodules or bundles of spindle cells separated by areas of greater cellularity and crescent-shaped vascular spaces. Distinct hemangiopericytoma-like areas were present in 22 cases. Despite apparent circumscription, the tumors commonly infiltrated and entrapped adjacent muscle, nerve, or salivary tissue. Immunohistochemically, 37 of 37 and 39 of 39 tumors stained positively for alpha-smooth muscle actin and muscle-specific actin, respectively, with the former eliciting a more intense reaction. Eight of 8 tumors were weakly positive for CD68, and one case stained focally with S-100 protein. No desmin staining was present in 36 tumors examined. Diagnostic interpretations by the pathologists seeking consultation were malignant or aggressive tumors in 31 cases and other benign conditions in 26. Nine were interpreted as myofibromatosis and 13 offered no interpretation. Thirty-two patients were alive and free of tumor an average of 42 months after initial diagnosis. Four patients had one recurrence each, and 2 had lesions recur twice. Myofibromas are relatively common soft tissue tumors of the maxillofacial region, which have been misinterpreted as malignant or aggressive lesions.

Adolescent↗
PubMed1978

[The so-called cardiac myxoma. Histological, electron microscopical, immunofluorescence, and biochemical investigations in 3 cases (author's transl)].

Three cardiac Myxomas were studied by light-, immuno-fluorescence and electron microscopy. Acid mucopolysaccharides of the tumour were isolated chromatographically. The surfaces of the "myxomas" were papillary in two cases and smooth in one. The smooth surfaced tumour recurred six months after primary resection; histological specimens were more cellular than those of the papillary tumors and showed nuclear polymorphism and mitoses. The cells of two papillary tumours were identified as endocardial by electron microscopy, however, the cells of the smooth surfaced tumour were typical myofibroblasts. In both types of "myxomas" the cells were rich on cytoplasmic filament that contained acto-myosin. Biochemical investigation failed to reveal any difference between the acid mucopolysaccharide pattern of the two tumour types; isolated mucopolysaccharides being typical for embryonal mesenchymal tissue. The authors agree with Albertini (1963), that "cardiac myxoma" is a misnomer for two different typical endocardial tumours: a true endothelioma and a "special fibroma" (myofibroma or myofibrosarcoma).

Adult↗
PubMed2024

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

PURPOSE: Infantile myofibromatosis is characterized by the development of myofibroblastic tumors in young children. In most cases, the disease is caused by somatic gain-of-function variants in platelet-derived growth factor (PDGF) receptor beta (PDGFRB). Here, we reported a novel germline intronic PDGFRB variant, c.2905-8G>A, in 6 unrelated infants with multifocal myofibromatosis and their relatives. METHODS: We performed constitutional and tumor DNA and RNA sequencing to identify novel variants, which were subsequently characterized in cellular assays. RESULTS: All patients had multiple skin nodules, 4 had bone lesions, and 2 had aggressive disease with bowel obstruction. The c.2905-8G>A substitution creates an alternative acceptor splice site in intron 21, inserting 2 codons in the PDGFRB transcript. Functional studies revealed that the splice change induced a partial loss of function, contrasting with previously described variants. In 4 tumor samples, we identified a second somatic hit at position Asp850 in PDGFRB exon 18, triggering constitutive receptor activation and resistance to imatinib. In addition to vinblastine and methotrexate, 2 patients received imatinib without objective response. One of them switched to dasatinib with concomitant improvement. CONCLUSION: This splice-site PDGFRB variant favors the development of myofibroma, featuring an acquired oncogenic variant in the same gene and resistance to targeted therapy.

Humans↗
PubMed2005

Clinico-pathologic correlations of myofibroblastic tumors of the oral cavity: 1. Nodular fasciitis.

BACKGROUND: Nodular fasciitis (NF), a soft tissue lesion mainly composed of myofibroblastic cells, is well documented in various body locations however, in the oral cavity it is rare. The NF has non-specific histologic characteristics that might result in misdiagnosis and mistreatment. The aim of the study was to analyze clinico-pathologic correlations of NF occurring in the oral cavity. METHODS: A total of 36 cases of oral NF were analyzed including review of the English language literature and five new cases from our files. RESULTS: Oral mucosa NF was found to peak in the fourth and fifth decades, which is a decade later than NF occurring in other sites of the body. The most common locations were the buccal mucosa (52.8%) and the lips (16.7%). Duration of lesions ranged from 3 days to 2 years, with approximately 61% being present for more than a month, which is longer than the duration of NF from other body locations. Histologically, oral NF showed varying degrees of cellularity and frequently contained myxomatous areas, and often demonstrated local infiltration into adjacent tissues. However, the myofibroblastic, spindle-shaped lesional cells were uniform and lacked any major signs of atypia. Mitotic figures, characteristically abundant in NF lesions throughout the body, ranged from absent to moderately high in oral NF cases. Treatment modality of choice was complete surgical excision. Recurrence was reported for only one case. Extensive, mutilating surgical procedures for oral mucosa NF are unnecessary, since lesions resolve even when surgical margins are partly involved. CONCLUSIONS: The NF should be included in the clinical differential diagnosis of superficial and deep soft tissue masses of the oral cavity, especially of the buccal mucosa. Histopathologically, NF should be differentiated from other spindle cell lesions, mainly myofibroma, neurofibroma, fibrosarcoma, solitary fibrous tumor, fibromatosis and fibrous histiocytoma.

Adult↗