ABSTRACT
OBJECTIVE: Nasal glioma, also known as nasal glial heterotopia, is a rare tumor-like lesion that often affects newborns or infants with no hereditary predisposition. CASE REPORT: A 4-year-old child with a growth on the nasal dorsum since birth was diagnosed with nasal glial heterotopia/nasal glioma. The lesion showed a sclerotic fibroma/collagenoma-like storiform pattern with entrapped glial tissue that was S100 and GFAP positive. CONCLUSION: When a biopsy of the nasal dorsum demonstrates sclerotic microscopic findings with a storiform pattern, nasal glioma should be considered before making a diagnosis in the collagen-rich tissue spectrum (collagenoma or Gardner's fibroma), and an immunohistochemical panel should be requested to demonstrate the presence of an unrecognized light microscopically visible glial component.
Subject(s)
Choristoma , Fibroma , Glioma , Nose Neoplasms , Child, Preschool , Humans , Choristoma/pathology , Choristoma/diagnosis , Diagnostic Errors , Fibroma/pathology , Fibroma/diagnosis , Fibroma/chemistry , Glioma/pathology , Glioma/diagnosis , Glioma/chemistry , Nose Neoplasms/pathology , Nose Neoplasms/chemistry , Nose Neoplasms/diagnosisABSTRACT
Sclerosing stromal tumors of the ovary are benign and tend to occur in youthful women with lobular structures at low frequencies. Three types of cells, including luteinized cells, short spindle myoid cells, and intermediate cells, are found in the lobules which abundant in the blood vessels. Currently, immunohistochemistry is used to detect normal follicles, sclerosing stromal tumors, granulosa cell tumors, and fibromas/thecomas. Our research results showed that transcription factor enhancer 3 (TFE3) was moderate to strong positive in the theca interna layer of normal follicles. TFE3 was expressed in seven out of eight sclerosing stromal tumors, mainly in luteinized cells. It did not express in 20 granulosa cell tumors. Of the nine fibromas/thecomas, TFE3 was weakly staining in 2 cases and negative in the remaining 7 cases. The expression of TFE3 was also weak in only one microcystic stromal tumor. 8 cases of sclerosing stromal tumors were analyzed by FISH using a TFE3 separation probe, and the results were negative. In short, as a nuclear transcription protein, TFE3 specifically expressed in sclerosing stromal tumors and could serve as a new marker for the diagnosis and differential diagnosis of sclerosing stromal tumors. Moreover, we speculate that TFE3 will promotes the formation of the vascular plexus after entry into the nucleus, which can further explain why sclerosing stromal tumors are different from other ovary sex-cord stromal tumors.
Subject(s)
Fibroma , Granulosa Cell Tumor , Ovarian Neoplasms , Sex Cord-Gonadal Stromal Tumors , Thecoma , Humans , Female , Thecoma/chemistry , Thecoma/pathology , Ovarian Neoplasms/pathology , Sex Cord-Gonadal Stromal Tumors/diagnosis , Sex Cord-Gonadal Stromal Tumors/pathology , Granulosa Cell Tumor/pathology , Biomarkers, Tumor , Fibroma/chemistry , Fibroma/pathology , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/geneticsABSTRACT
Myxofibrosarcoma is a complex genetic disease with poor prognosis. However, more effective biomarkers that forebode poor prognosis in Myxofibrosarcoma remain to be determined. Herein, utilizing gene expression profiling data and clinical follow-up data of Myxofibrosarcoma cases in three independent cohorts with a total of 128 Myxofibrosarcoma samples from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases, we constructed an easy-to-use web tool, named Online consensus Survival analysis for Myxofibrosarcoma (OSmfs) to analyze the prognostic value of certain genes. Through retrieving the database, users generate a Kaplan-Meier plot with log-rank test and hazard ratio (HR) to assess prognostic-related genes or discover novel Myxofibrosarcoma prognostic biomarkers. The effectiveness and availability of OSmfs were validated using genes in ever reports predicting the prognosis of Myxofibrosarcoma patients. Furthermore, utilizing the cox analysis data and transcriptome data establishing OSmfs, seven genes were selected and considered as more potentially prognostic biomarkers through overlapping and ROC analysis. In conclusion, OSmfs is a promising web tool to evaluate the prognostic potency and reliability of genes in Myxofibrosarcoma, which may significantly contribute to the enrichment of novelly potential prognostic biomarkers and therapeutic targets for Myxofibrosarcoma.
Subject(s)
Biomarkers, Tumor/genetics , Fibroma/genetics , Fibrosarcoma/genetics , Internet , Software , Area Under Curve , Base Sequence , Biomarkers, Tumor/analysis , Datasets as Topic , Fibroma/chemistry , Fibroma/mortality , Fibrosarcoma/chemistry , Fibrosarcoma/mortality , Gene Ontology , Humans , Kaplan-Meier Estimate , Prognosis , Proportional Hazards Models , ROC Curve , Survival AnalysisABSTRACT
Renomedullary interstitial cell tumors (RMICTs) are almost always incidentally identified either at autopsy or upon resection of the kidney for other reasons. However, rare cases that are large, resulting in a clinical mass, have been reported. The immunohistochemical phenotype of usual, incidental RMICT using modern soft tissue tumor markers is largely unknown, however, providing little information to aid in classification of larger or atypical tumors. We retrieved 41 RMICTs from 36 patients and studied pathologic characteristics including morphology, immunohistochemistry (S100, keratin AE1/AE3, smooth muscle actin, desmin, estrogen and progesterone receptors, calponin, CD34, CD35), and histochemical staining. Data collected included age, sex, tumor size, laterality, and indication for kidney examination. RMICTs (nâ¯=â¯41) were identified in 23 men and 13 women, with a mean age of 57â¯years (range, 24-83â¯years); tumor sizes ranged from less than 1 to 13â¯mm (median, 4â¯mm). Kidneys were resected for 32 tumors, 1 chronic pyelonephritis, 1 trauma, and 2 autopsies. All (41; 100%) had entrapped renal tubules, 5 (12%) of which included cystic or dilated tubules. Most (35; 85%) had collagenous fibers, all of which were negative for Congo red. RMICT demonstrates a largely negative immunohistochemical phenotype with weak-to-moderate labeling for smooth muscle actin and calponin that is substantially less than myofibroblastic lesions. Positive staining for estrogen and progesterone receptors is common (61%), which could overlap with mixed epithelial and stromal tumor and other entities; however, staining is typically weak. CD34 is usually negative, with occasional weak labeling, in contrast to solitary fibrous tumor.
Subject(s)
Biomarkers, Tumor/analysis , Fibroma/chemistry , Immunohistochemistry , Kidney Medulla/chemistry , Kidney Neoplasms/chemistry , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Female , Fibroma/pathology , Humans , Incidental Findings , Kidney Medulla/metabolism , Kidney Neoplasms/pathology , Male , Middle Aged , Phenotype , Predictive Value of Tests , Tumor Burden , Young AdultABSTRACT
The boundaries of the benign spindle cell stromal tumors of the breast are still confusing. This is the reason why different names are interchangeably used for the same tumor and vice versa the same name for different tumors. Therefore, we studied the immunoexpression of easily available markers, such as CD34, α-smooth muscle actin, and desmin, with the addition of STAT6, as well as the chromosome 13q14 region by fluorescence in situ hybridization analysis in a series of 19 cases of benign spindle cell stromal tumors of the breast. Based on the morphologic and immunohistochemical findings, the following histotypes were identified: (i) tumors (10/19 cases) with the characteristic morphology of myofibroblastoma and stained with vimentin, CD34, desmin, and α-smooth muscle actin; (ii) fibroblastic benign spindle cell tumors (5/19 cases) composed of fibroblast-like cells stained only with vimentin and CD34; (iii) tumors (2/19 cases) with the typical morphologic features of solitary fibrous tumor and stained with vimentin, CD34, and STAT6; (iv) 1 case of spindle cell lipoma stained with vimentin and CD34; and (v) 1 case of fibroma composed of a paucicellular, diffusely hyalinized stroma with expression of vimentin and CD34. Notably most of the tumors, with the exception of solitary fibrous tumor, showed monoallelic deletion of FOXO1. This finding supports that myofibroblastoma, fibroblastic benign spindle cell tumor, spindle cell lipoma, and fibroma of the breast are histogenetically related lesions which belong to the same tumor entity.
Subject(s)
Biomarkers, Tumor , Breast Neoplasms/chemistry , Breast Neoplasms/genetics , Chromosome Deletion , Chromosomes, Human, Pair 13 , Neoplasms, Connective and Soft Tissue/chemistry , Neoplasms, Connective and Soft Tissue/genetics , STAT6 Transcription Factor/analysis , Stromal Cells/chemistry , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Breast Neoplasms/classification , Breast Neoplasms/pathology , Breast Neoplasms, Male/chemistry , Breast Neoplasms, Male/genetics , Breast Neoplasms, Male/pathology , Female , Fibroma/chemistry , Fibroma/genetics , Fibroma/pathology , Genetic Predisposition to Disease , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Lipoma/chemistry , Lipoma/genetics , Lipoma/pathology , Male , Middle Aged , Neoplasms, Connective and Soft Tissue/classification , Neoplasms, Connective and Soft Tissue/pathology , Neoplasms, Muscle Tissue/chemistry , Neoplasms, Muscle Tissue/genetics , Neoplasms, Muscle Tissue/pathology , Phenotype , Predictive Value of Tests , Solitary Fibrous Tumors/chemistry , Solitary Fibrous Tumors/genetics , Solitary Fibrous Tumors/pathology , Stromal Cells/pathologyABSTRACT
Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of ß-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1.5 years at presentation (range, 3 months-9 years). Tumor arose in the hand (4 cases), foot (2 cases) and trunk (2 cases), manifesting as a painless subcutaneous mass. Two cases were congenital, one with tumor noted at birth and the others shortly after birth. Grossly, the tumors were poorly defined and irregularly shaped, composed predominantly of fatty tissue which was mingled with fibrous element. They ranged from 1 to 5 cm in size (mean, 2.6 cm). Microscopically, they were characterized by variably sized lobules of adipose tissue traversed by fascicles, bundles or trabeculae of proliferative fibroblasts and myofibroblasts, resembling desmoid tumor. In 2 cases, the tumor infiltrated adjacent skeletal muscles. On high power, the spindled fibroblasts and myofibroblasts had a bland appearance with very low mitotic activity (<1/10 HPF). By immunohistochemistry, they showed variable staining of α-SMA, MSA, CD34 and CD99, with negativity for ß-catenin, desmin, h-CALD, EMA, ALK, and S-100 protein. Ki-67 index was low (<2%). Molecular analysis showed no mutation of ß-catenin gene (0/3), no NTRK1 gene rearrangement (0/3) and no ETV6 gene rearrangement (0/2). Follow up information was available in 6 patients, revealed local recurrence in two and persistent disease in one. Conclusions: Lipofibromatosis is a special variant of infantile fibromatosis, which has a predilection for the distal portion of the extremities of neonates and infants and characterized by lobules of adipose tissue traversed by demoid tumor-like fibroblasts and myofibroblasts. However, it differs from desmoid tumor by harboring no mutation of ß-catenin gene. Familarity with its clinicopathological characteristics helps the distinction from its morphological mimics.
Subject(s)
Fibroma/chemistry , Fibroma/pathology , Lipoma/chemistry , Lipoma/pathology , beta Catenin/genetics , Actins/analysis , Antigens, Neoplasm/analysis , Child , Child, Preschool , China , Desmin/analysis , Extremities , Female , Fibroblasts/pathology , Fibromatosis, Aggressive/pathology , Hand , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Infant , Male , Myofibroblasts/pathology , Neoplasms, Fibrous Tissue/pathology , Proto-Oncogene Proteins c-ets/genetics , Receptor Protein-Tyrosine Kinases , Repressor Proteins/genetics , S100 Proteins/analysis , Torso , ETS Translocation Variant 6 ProteinABSTRACT
Objective: To study the clinicopathologic features, diagnosis and differential diagnosis of pulmonary microcystic fibromyxoma. Methods: In March 2014, at the First Affiliated Hospital to Nanjing Medical University a 58-year-old female patient of pulmonary microcystic fibromyxoma was collected. The clinicopathologic, immunohistochemical and genetic profile of a case of pulmonary microcystic fibromyxoma were studied, and the relevant literature reviewed. Results: The patient was a 58-year-old female who presented with cough and sputum for 1 month. CT scan disclosed a 15 mm nodule in her right middle lobe of lung. The patient underwent a wedge resection with negative margin. Grossly, a well-demarcated peripheral lung nodule was detected, measuring 1.5 cm×1.5 cm×1.0 cm, with myxoid tan-white cut surface containing microcysts. Microscopically, the tumor was composed of bland spindled to stellate-shaped cells widely spaced within prominent fibromyxoid stroma with prominent cystic change. No mitosis or necrosis was present. There were inconspicuous slim curvilinear capillaries and occasional collection of stromal lymphocytes and plasma cells. Immunohistochemically, the tumor cells were positive for vimentin, but negative for CD34, SMA, desmin, S-100 protein, ALK, CKpan, EMA, calretinin and TTF1. Fluorescence in situ hybridization did not show chromosomal translocation involving EWSR1, DDIT3 or FUS genes. The patient was recurrence or metastasis free after follow-up for 38 months. Conclusion: Pulmonary microcystic fibromyxoma is a rare benign lesion that should be differentiated from other lung tumors with myxoid characteristics.
Subject(s)
Fibroma/chemistry , Fibroma/pathology , Lung Neoplasms/chemistry , Lung Neoplasms/pathology , Calmodulin-Binding Proteins/analysis , Diagnosis, Differential , Female , Humans , In Situ Hybridization, Fluorescence , Middle Aged , RNA-Binding Protein EWS/analysis , S100 Proteins/analysis , Tomography, X-Ray Computed , Vimentin/analysisABSTRACT
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19). Immunohistochemistry for HMB-45, desmin, smooth muscle actin, TFE3, and S100 was performed on the TSC-related fibromas. Periungual fibromas and non-TSC fibroma-like lesions were also stained for HMB-45. All 3 TSC patients were female, ranging in age from 4 to 51 years (mean, 26.7 y). Two tumors were located in extremities and 1 on the chest wall. The tumors showed elongated to stellate spindle-shape cells, prominent collagenous background, and lacked mitotic activity and cytologic atypia. Immunohistochemically, all 3 tumors were positive for HMB-45; smooth muscle actin or desmin was positive in both tumors tested. TFE3 was negative. All patients were alive with no evidence of disease with median follow-up of 55 months (range, 6 to 131 mo). Non-TSC fibroma-like lesions and oral and periungual fibromas were negative for HMB-45. Fibroma-like PEComa, a newly recognized soft tissue tumor with a strong association with TSC, mimics soft tissue fibroma but shows reactivity with melanocytic markers.
Subject(s)
Biomarkers, Tumor/analysis , Fibroma/diagnosis , Perivascular Epithelioid Cell Neoplasms/diagnosis , Soft Tissue Neoplasms/diagnosis , Tuberous Sclerosis/diagnosis , Adult , Biopsy , Child, Preschool , Diagnosis, Differential , Fibroma/chemistry , Fibroma/ultrastructure , Humans , Immunohistochemistry , Magnetic Resonance Imaging , Middle Aged , Perivascular Epithelioid Cell Neoplasms/chemistry , Perivascular Epithelioid Cell Neoplasms/surgery , Perivascular Epithelioid Cell Neoplasms/ultrastructure , Predictive Value of Tests , Soft Tissue Neoplasms/chemistry , Soft Tissue Neoplasms/surgery , Soft Tissue Neoplasms/ultrastructure , Tomography, X-Ray Computed , Tuberous Sclerosis/metabolism , Tuberous Sclerosis/pathology , Tuberous Sclerosis/surgeryABSTRACT
Chondromyxoid fibroma (CMF) is a rare benign tumor, usually arising in the metaphysis of long bones in young adults. Occurrence in craniofacial bones presents a particular diagnostic challenge given its unusual location and resemblance to malignant mimics. We describe the clinicopathologic features of 25 cases of craniofacial CMF identified between 1999 and 2017. Patients were 14 men and 11 women, with median age of 44 years (range, 5 to 83 y). Sites of involvement were sphenoid (7), ethmoid (5), maxilla (3), occipital (2), nasal septum (2), palatine (2), temporal (2), orbit (1), and undisclosed skull (1). Tumor size ranged from 0.8 to 6.0 cm (median, 2.0 cm). Of the 21 tumors with available radiology, 15 arose on the bone surface with expansion into adjacent sinuses; 6 were intraosseous. Bony erosion/destruction was present in most (13/16) cases, and 7/12 showed calcification on imaging. Microscopically, most tumors showed a lobulated growth pattern with hypocellular central chondromyxoid areas and peripheral hypercellularity, though many samples were fragmented. Tumor cells had ovoid to tapered nuclei and abundant palely eosinophilic cytoplasm, frequently with stellate cell processes. Mitoses ranged from 0 to 2 per 10 high-power fields (median count, 0). None showed necrosis. Significant atypia was present in 2 cases, 1 of which was a previously radiated recurrence. Bone infiltration was present in 6 cases. Thirteen tumors had focal calcification, and 2 had foci of hyaline cartilage. All tumors were negative for keratin and GFAP (0/24), with frequent positivity for SMA (7/7) and occasional staining for EMA (5/24) and S-100 (2/24). Most patients underwent piecemeal excision or curettage (5/5 positive margins when reported). Follow-up data were available for 15 patients, and 5 suffered local recurrence. Craniofacial CMF poses diagnostic pitfalls including frequent aggressive radiologic features and lack of a specific immunophenotype. Tumors may recur, largely due to the difficulty of obtaining clear surgical margins in this anatomic region. Furthermore, propensity for local destruction and invasion can create significant morbidity.
Subject(s)
Chondroma/pathology , Facial Bones/pathology , Fibroma/pathology , Skull Neoplasms/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Biopsy , Child , Child, Preschool , Chondroma/chemistry , Chondroma/diagnostic imaging , Chondroma/surgery , Facial Bones/chemistry , Facial Bones/diagnostic imaging , Facial Bones/surgery , Female , Fibroma/chemistry , Fibroma/diagnostic imaging , Fibroma/surgery , Humans , Immunohistochemistry , Male , Middle Aged , Mitotic Index , Skull Neoplasms/chemistry , Skull Neoplasms/diagnostic imaging , Skull Neoplasms/surgery , Treatment Outcome , Tumor Burden , Young AdultABSTRACT
Myofibroblastic, fibroblastic and/or myoid lesions are rare in the breast but comprise the majority of mammary mesenchymal spindle cell lesions. Whereas most have similar features to their counterparts at extramammary sites, pseudoangiomatous stromal hyperplasia is considered a breast-specific myofibroblastic proliferation on the same spectrum as myofibroblastoma. Other lesions with myofibroblastic/fibroblastic differentiation include fibromatosis and nodular fasciitis, as well as more aggressive tumors such as the rarely reported myofibrosarcoma, inflammatory myofibroblastic tumor and fibrosarcoma. Lesions with myoid differentiation include benign leiomyoma, myoid hamartoma and leiomyomatous myofibroblastoma, but primary leiomyosarcoma and rhabdomyosarcoma may also rarely arise in the breast. Furthermore, fibroepithelial lesions and metaplastic carcinomas can demonstrate myoid metaplasia. Diagnosis can be challenging, particularly on core biopsy, but benign lesions with or without recurrence potential must be distinguished from more aggressive tumors, especially metaplastic carcinoma and phyllodes tumors. This article will review lesions with myofibroblastic, fibroblastic and myoid differentiation in the breast, with special emphasis on differential diagnosis.
Subject(s)
Breast Neoplasms/pathology , Fibroblasts/pathology , Fibroma/pathology , Myofibroblasts/pathology , Neoplasms, Muscle Tissue/pathology , Biomarkers, Tumor/analysis , Biopsy , Breast Neoplasms/chemistry , Cell Differentiation , Diagnosis, Differential , Female , Fibroblasts/chemistry , Fibroma/chemistry , Humans , Immunohistochemistry , Myofibroblasts/chemistry , Neoplasms, Muscle Tissue/chemistry , Predictive Value of Tests , Prognosis , Sarcoma/chemistry , Sarcoma/pathologyABSTRACT
Objective: To investigate the clinical features, immunohistochemical and differential diagnosis of desmoplastic fibroblastoma. Methods: The clinical data and pathology features of 7 cases of desmoplastic fibroblastoma were collected and immunohistochemical study were carried out in all cases with a review of the literatures. Results: There were 2 males and 5 females, with age ranging from 31 to 71 years (average and mean age were 59 and 61 years, respectively). The tumors were located in extremities and abdomen (left toe and right toe, right foot back, left leg and right thigh, right forearm and left hepatic lobe). Clinically, the tumors presented as slow growing painless masses of long standing duration. Grossly, the tumors were well-circumscribed with firm, white to gray cut-off surface. Tumor size ranged from 1.2 to 4.0 cm in maximum diameter (average 3.0 cm). Microscopically, 2 cases were located in dermis, 4 cases were located in subcutaneous and 1 case was located in liver parenchyma. It was composed of spindle-shaped or stellate cells with a fibroblastic or myofibroblastic appearance, and sparsely scattered in densely fibrous or fibromyxoid background. There was small vascular component in tumor background. At high magnification, the tumor cells were medium size with abundant cytoplasm, and the nucleus were small and always with small nucleoli. In some cases, the tumor cells were slightly larger with enlarged nuclei, but without cellular atypical and mitosis. Immunohistochemical study showed that the tumor cells were strongly positive for vimentin, desmin, S-100 protein and CD34, but CKpan was negative. α-SMA showed focal positive in one case. Ki-67 index ranged from 1% to 2%. Four cases were followed-up (ranged from 11 to 21 months, average 16.5 months) and the patients had no recurrence after surgery. Conclusions: Desmoplastic firoblastoma is a rare soft benign tumor. The differential diagnosis includes other benign or low-grade fibroblastic/myofibroblastic lesions.
Subject(s)
Neoplasms, Fibrous Tissue/pathology , Actins/analysis , Adult , Aged , Antigens, CD34/analysis , Cell Nucleolus/pathology , Cell Nucleus/pathology , Desmin/analysis , Diagnosis, Differential , Female , Fibroblasts/chemistry , Fibroblasts/pathology , Fibroma/chemistry , Fibroma/pathology , Humans , Male , Middle Aged , Myofibroblasts/chemistry , Myofibroblasts/pathology , Neoplasm Proteins/analysis , Neoplasms, Fibrous Tissue/chemistry , Neoplasms, Fibrous Tissue/diagnosis , S100 Proteins/analysis , Tumor Burden , Vimentin/analysisABSTRACT
BACKGROUND: Superficial acral fibromyxoma (SAF) is a benign, soft tissue neoplasm preferably located on the digits. METHODS: We collected 13 cases of SAF and evaluated their clinical, histopathologic, and immunohistochemical features. RESULTS: This study included 9 males and 4 females, median age 54 years. The patients presented with a solitary asymptomatic or tender mass, most of them arising on fingers or toes. Histopathologically all lesions consisted of nonencapsulated dermal nodules, composed of spindled cells with variable myxoid and/or fibrotic stroma. Some lesions were well circumscribed (6/12, 50%), whereas other ones appeared poorly demarcated (6/12, 50%). The stroma was predominantly myxoid (53%), myxoid-collagenous (31%) or mostly collagenous (15%). Neoplastic cells expressed immunoreactivity for CD34 (8/11), CD99 (9/12), and nestin (7/7); whereas MUC4 (0/11) and Bcl-2 (0/7) resulted negative. CONCLUSIONS: Nestin is the best immunohistochemical marker for SAF with higher sensitivity than CD34, although nestin is also positive in dermatofibrosarcoma protuberans and therefore is not helpful in differential diagnosis between SAF and dermatofibrosarcoma protuberans. Cellular digital fibromas and acquired reactive digital fibroma probably are neoplasms closely related to SAF. The homogeneous reactivity for CD99, the negativity for Bcl-2 and lack of the honeycomb infiltration of the subcutis help to rule out myxoid dermatofibrosarcoma protuberans, whereas the negativity for MUC4 and Bcl-2 are helpful tools to rule out low-grade fibromyxoid sarcoma and spindled-cell lipoma, respectively.
Subject(s)
Biomarkers, Tumor/analysis , Fibroma/chemistry , Immunohistochemistry , Soft Tissue Neoplasms/chemistry , Biopsy , Diagnosis, Differential , Female , Fibroma/pathology , Fingers , Germany , Humans , Male , Middle Aged , Predictive Value of Tests , Soft Tissue Neoplasms/pathology , Spain , ToesABSTRACT
Superficial acral fibromyxoma (SAF) is an uncommon benign dermal mesenchymal lesion of adults with predilection for acral sites, in particular the nail region. To date, less than 300 cases have been reported. SAFs consistently express CD34, but other diagnostic markers or specific genetic alterations have not been established yet. We describe 11 SAFs occurring in 7 men and 4 women aged 37 to 86years (median, 48 years). Mean size was 6mm (range, 4-20mm). Affected sites were fingers (n=5), toes (n=3), heel (n=1), calf (n=1), and unspecified digit (n=1). None of 10 patients with available follow-up (2-60months; median, 24months) developed recurrence. Histology showed relatively hypocellular vaguely lobulated nodules composed of bland-looking spindled or stellate fibroblast-like cells arranged into storiform or loose fascicles within a variably myxoid, fibromyxoid, or collagenous vascularized stroma. Immunohistochemistry showed expression of CD34 (9/10) and focal weak reactivity for epithelial membrane antigen (2/11). None of the lesions expressed protein S100 (0/11), MUC4 (0/11), or STAT6 (0/11). Loss of Rb1 immunoexpression was observed in 9 (90%) of 10 cases. All 7 cases with successful RB1 fluorescence in situ hybridization testing showed RB1 gene deletions, which was variably associated with co-loss of the corresponding 13q12 signal (monosomy at the 13q region). To our knowledge, this is the first study investigating the expression status of the tumor suppressor Rb1 in SAF by immunohistochemistry and fluorescence in situ hybridization. Our results showed frequent Rb1 deficiency as a possible driver molecular event in SAF (seen in 90% of cases) indicating relationship of SAF to the RB1-deleted tumor family.
Subject(s)
Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Fibroma/diagnosis , Gene Deletion , Immunohistochemistry , In Situ Hybridization, Fluorescence , Retinoblastoma Binding Proteins/analysis , Retinoblastoma Binding Proteins/genetics , Skin Neoplasms/diagnosis , Ubiquitin-Protein Ligases/analysis , Ubiquitin-Protein Ligases/genetics , Adult , Aged , Aged, 80 and over , Biopsy , Female , Fibroma/chemistry , Fibroma/genetics , Fibroma/pathology , Fibroma/surgery , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype , Predictive Value of Tests , Skin Neoplasms/chemistry , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Treatment Outcome , Tumor BurdenABSTRACT
Superficial acral fibromyxoma (SAFM) is a rare soft tissue tumor that frequently involves the periungual and subungual regions of acral surfaces. Macroscopically, it appears as a flesh-colored dome-shaped solitary mass; microscopically, it consists of a moderately cellular proliferation of spindle-shaped fibroblast-like cells embedded in a myxocollagenous stroma and arranged in a loose storiform and focally fascicular pattern. The tumor cells are immunoreactive for CD34, epithelial membrane antigen, CD99, and CD10. In this study, we describe a case of SAFM on the fourth toe with predominantly myxoid stroma. Our case, in contrast of those reported in the literature, showed an unusual location for the myxoid variant. SAFM is often not recognized; it may resemble some benign and malignant mesenchymal neoplasm. The gold standard treatment is surgery. The tumor was completely excised, and no recurrence was evident at 1-year follow-up. Awareness of this entity facilitates its diagnosis and management, avoiding unwarranted concerns and additional procedures for the patient.
Subject(s)
Fibroma/pathology , Soft Tissue Neoplasms/pathology , Biomarkers, Tumor/analysis , Biopsy , Fibroma/chemistry , Fibroma/surgery , Humans , Immunohistochemistry , Male , Middle Aged , Soft Tissue Neoplasms/chemistry , Soft Tissue Neoplasms/surgery , Toes , Treatment OutcomeABSTRACT
BACKGROUND: Mitotically active cellular fibroma (MACF) of the ovary, characterized by relatively high mitotic activity without severe atypia, represents a relatively new disease entity. MACF is categorized as a benign ovarian tumor. However, due to a limited number of case reports, its clinical and pathological features and optimum management remains largely undetermined. Herein, we report on a rare case of MACF that grew rapidly in size and was diagnosed on detailed pathological examination. CASE PRESENTATION: A 44-year-old Japanese woman, who detected a myoma-like lesion 1-year earlier, was referred to our hospital when the follow-up examination demonstrated that the mass had increased in size. Magnetic resonance imaging revealed a T1 isointense and T2 hyperintense tumor (11 cm in diameter) in the right pelvic cavity. Laparoscopy confirmed the presence of a right ovarian tumor and laparoscopic right adnexectomy was performed. The tumor cells consisted of dense cellular proliferations of spindle fibroblast-like cells without significant cytological atypia. The mitotic activity index was estimated at >15 mitotic figures per 10 high-power fields. Reticulin staining and FOXL2 mutation analysis excluded the possibility of an adult granulosa cell tumor, and the patient was diagnosed with a MACF of the ovary. CONCLUSIONS: To the best of our knowledge, we are the first to report on a case of rapid growth of a MACF of the ovary during follow-up. When an increase in the size of a solid ovarian mass is detected, a MACF should be considered as a differential diagnosis.
Subject(s)
Cell Proliferation , Fibroma/pathology , Mitosis , Ovarian Neoplasms/pathology , Adult , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , DNA Mutational Analysis , Diagnosis, Differential , Female , Fibroma/chemistry , Fibroma/genetics , Fibroma/surgery , Forkhead Box Protein L2 , Forkhead Transcription Factors/genetics , Humans , Immunohistochemistry , Laparoscopy , Magnetic Resonance Imaging , Mutation , Ovarian Neoplasms/chemistry , Ovarian Neoplasms/genetics , Ovarian Neoplasms/surgery , Predictive Value of Tests , Reticulin/analysis , Time Factors , Tumor Burden , UltrasonographySubject(s)
Capillaries/pathology , Cell Proliferation , Fibroma/pathology , Hair Diseases/pathology , Hair Follicle/pathology , Head and Neck Neoplasms/pathology , Mesenchymal Stem Cells/pathology , Scalp/pathology , Skin Neoplasms/pathology , Adult , Biomarkers, Tumor/analysis , Biopsy , Capillaries/chemistry , Female , Fibroma/chemistry , Fibroma/surgery , Hair Diseases/metabolism , Hair Diseases/surgery , Hair Follicle/chemistry , Hair Follicle/surgery , Head and Neck Neoplasms/chemistry , Head and Neck Neoplasms/surgery , Humans , Immunohistochemistry , Mesenchymal Stem Cells/chemistry , Scalp/chemistry , Scalp/surgery , Skin Neoplasms/chemistry , Skin Neoplasms/surgeryABSTRACT
INTRODUCTION: Ovarian fibroma is a benign stromal tumour composed of spindle/ovoid fibroblastic cells producing collagen. Approximally 10% of fibromas are densely cellular with small amount of collagen. In these cases, if mild nuclear atypia is present, they are best addressed as cellular fibroma. However cellular fibroma may show a greater mitotic activity and therefore they should be referred as mitotically active cellular fibromas. Mostly benign, it is necessary to differentiate them from malignant tumours such as fibrosarcomas. METHODS: We report a case of an unusual presentation of mitotically active cellular fibroma, detected in the Douglas cavity of a young woman, with normal appearing ovaries and uterus, mimicking a malignant neoplasia clinically and on imaging. In fact abdominal mass may be associated with acute pain, resulting in clinical emergency, really difficult to distinguish from a frank malignancy, before surgical procedure. RESULTS: We described the clinical, radiological and pathological characteristics of our case and we make a comparison of what previously described in literature. DISCUSSION: The differential diagnosis among those entities is based on the microscopic features such as atypia and the number of mitoses. However, according to their dimensions, it may be necessary to generously sample these tumours and sometimes, to perform a panel of immunohistochemical markers, in order to make a correct diagnosis, establish the best treatment and the right follow-up. In fact, the prognosis is not certain, due to the possible recurrence, especially if not completely excised.
Subject(s)
Douglas' Pouch/pathology , Fibroma/pathology , Fibrosarcoma/pathology , Mitosis , Pelvic Neoplasms/pathology , Peritoneal Neoplasms/pathology , Adult , Biomarkers, Tumor/analysis , Biopsy , Diagnosis, Differential , Douglas' Pouch/surgery , Female , Fibroma/chemistry , Fibroma/surgery , Humans , Immunohistochemistry , Pelvic Neoplasms/chemistry , Pelvic Neoplasms/surgery , Peritoneal Neoplasms/chemistry , Peritoneal Neoplasms/surgery , Predictive Value of TestsABSTRACT
Dendritic fibromyxolipoma is an uncommon benign soft tissue tumor. Here, we report a case in a 53-year-old man presenting a painless mass located deep in the latissimus dorsi of the right back. Microscopically, the tumor was mainly consisted of small spindle and stellate cells, abundant myxoid stroma, collagen bundles and mature adipose tissue. Immunohistochemical study showed the spindle and stellate cells were positive for CD34, Bcl-2 and Vimentim, but not for Keratin, EMA, SMA and Desmin. To date, one year after operation, the patient is well without evidence of recurrence or metastasis. The implication of this report is to provide insights into further understanding of this rare tumor with review of the literature.