Mammary-type Myofibroblastoma Research Articles

Chondrolipoma of the Breast: A Myofibroblastoma Variant or a Distinct Lesion?

The entity commonly referred to as chondrolipoma is a rare and enigmatic breast lesion with unclear histogenesis and a complete lack of molecular characterization. It is uncertain whether it represents a hamartoma, choristoma, or a distinct neoplasm, including possibly a variant of mammary-type myofibroblastoma. We report two additional chondrolipomatous lesions of the breast. The lesions had varying histologic and immunohistochemical features similar to myofibroblastoma, including the loss of retinoblastoma (Rb) protein expression in one lesion. Molecular analysis by chromosomal microarray analysis performed on a second lesion did not demonstrate a loss of 13q14 or 16q typical of myofibroblastoma. Our findings further support the concept that at least a subset of breast lesions that historically have been classified as chondrolipoma are related to myofibroblastoma. However, the lack of myofibroblastoma-specific molecular alterations in one lesion suggests chondrolipomas may also have varying origins.

CYP1A1 immunohistochemistry is highly specific for angiofibroma of soft tissue among morphological mimics.

Angiofibroma of soft tissue (AFST) is a benign, morphologically distinctive tumour type that harbours recurrent AHRR::NCOA2 fusions in 60-70% of cases and shows a non-specific immunophenotype, expressing EMA in roughly half of cases. The AHRR::NCOA2 fusion results in increased expression of cytochrome P450 1A1 (CYP1A1); a recent study demonstrated CYP1A1 immunohistochemistry (IHC) to be moderately sensitive and highly specific for AFST. In this study, we sought to validate these findings in a larger independent cohort of 30 AFST, as well as 215 morphological mimics, including 30 solitary fibrous tumours, 29 myxoid liposarcomas, 28 low-to-intermediate grade myxofibrosarcomas (MFS), 20 atypical spindle cell lipomatous tumours (ASCLT), 20 cellular angiofibromas, 10 cases each of spindle cell lipoma, neurofibroma, malignant peripheral nerve sheath tumour, superficial angiomyxoma, cellular myxoma, soft tissue perineurioma and deep fibrous histiocytoma, and nine cases each of low-grade fibromyxoid sarcoma and mammary-type myofibroblastoma. We found CYP1A1 IHC to be 70% sensitive for AFST, with granular cytoplasmic staining in 21 of 30 tumours, and 98% specific, with staining in only five morphological mimics: two deep fibrous histiocytomas, one MFS, one cellular angiofibroma and one ASCLT. These findings confirm that CYP1A1 is 70% sensitive, consistent with the prevalence of AHRR::NCOA2 fusions that up-regulate this protein, and that it is highly specific among morphological mimics.

Identifying the uncommon solitary fibrous tumour in a rare location - A case report.

Introduction and importanceThe authors describe a case work up of an unusual natal cleft soft tissue tumour which eventually was concluded as solitary fibrous tumour. Solitary fibrous tumour is an uncommon fibroblastic tumour which commonly presents in pleural region and very rarely in extrapleural location such as natal cleft. Accurate identification of this tumour, considering the indeterminate nature of the tumour irrespective of the location, avoided misdiagnosis and played a vital role in follow up management of the patient.Case presentation43 year old female patient presented with a painless lump in the natal cleft region for a short duration of 7 months with no other significant medical or surgical or family or psychosocial history. She was not on any regular medications.Clinical discussionDue to unusual location of the tumour broad range of differential diagnosis including benign and malignant entities were discussed based on histological findings and immunophenotyping. Mammary type myofibroblastoma, glomus tumour, clear cell renal cell carcinoma and clear cell sarcoma of soft tissue were few to note. STAT6 immunohistochemical stain played a crucial role in unravelling this case. Due to gradual increase in size of the lump complete surgical excision was performed with no local recurrence of the tumour.ConclusionIt is important to recognise this rare mesenchymal tumour with intermediate malignant potential occurring at uncommon natal cleft region for which complete surgical enucleation is curative.

Mammary‐type myofibroblastoma of the perineum: Typical or rare location?

IntroductionMammary‐type myofibroblastoma is a rare benign tumor, mainly arising along the embryonal mammary ridge. We report a rare case of mammary‐type myofibroblastoma of the perineum.Case presentationA 37‐year‐old Japanese man presented with a 20 mm, progressively‐growing painless mass in the right perineum. Computed tomography showed a subcutaneous tumor with a strong contrast effect. Upon total resection, pathology showed a spindle‐cell tumor positive for desmin but negative for CD34. Further immunohistochemistry showed loss of Rb expression, leading to differential diagnosis. We could not evaluate the exact rarity of the perineal location due to categorization in past reports.ConclusionDue to the similarities between mammary and anogenital tissue, we suggest that tallying perineal and vulvar areas separately from the embryonic mammary ridge sites may be beneficial in gaining insight into the pathophysiology of this tumor.

Radical Hemiscrotectomy and En Bloc Orchidectomy: Surgical Technique and Perioperative and Oncologic Outcomes of a Supra-Regional UK Referral Centre

Background and PurposeHemiscrotectomy with en bloc orchidectomy represents a radical primary, completion, or salvage option in men with inguinoscrotal cancers. We describe our surgical technique and peri-operative and oncological outcomes.Patients and MethodsRetrospective cohort study of 16 men treated at a supra-regional referral centre with open radical hemiscrotectomy with or without en bloc orchidectomy between 2010 and 2020. Peri-operative and survival outcomes were analysed.ResultsRadical hemiscrotectomy with or without en bloc orchidectomy was performed on 16 patients comprising 7 well-differentiated liposarcomas, 4 dedifferentiated liposarcomas, 2 leiomyosarcomas, 1 mesothelioma, 1 rhabdomyosarcoma and 1 mammary type myofibroblastoma. Primary hemiscrotectomy was performed in four, completion hemiscrotectomy in nine and salvage hemiscrotectomy in three. The median hospital stay was 2 days [interquartile range (IQR) 2–4]. Four patients (25%) had post-operative complications including wound infection or haematoma. During a median follow-up of 18 months (IQR 2–66), one patient (6%) died following a recurrence in the pelvis and retroperitoneum.Discussionand ConclusionsIf careful dissection is performed, radical hemiscrotectomy and en bloc orchidectomy is a radical but safe procedure with a short hospital stay. Haematoma and infection represent the main complications, and within limited follow-up most men showed no recurrence.

Mammary-Type Myofibroblastoma as Differential Diagnosis of Spermatic Cord Tumor Undergone Organ-Sparing Surgery: a Case Report

We describe a case of a 37-year-old man with painless left inguinal bulging due to a 5-cm solid mass adjacent to spermatic cord. Ultrasound-guided core needle biopsy was performed and histopathological examination revealed a mammary-type myofibroblastoma. Despite being rare, this is an emblematic case of a spermatic cord tumor which could be managed with marginal surgical excision, preserving spermatic cord, because of preoperative diagnosis.

Chromosomal microarray analysis of benign mesenchymal tumors with RB1 deletion

Spindle cell lipomas/pleomorphic lipomas, mammary-type myofibroblastomas, and cellular angiofibromas are benign mesenchymal tumors that demonstrate histologically overlapping features but with varying anatomic locations and an uncertain etiologic relationship. These tumors have also been found to have an overlapping molecular profile with shared 13q14 deletions, which is the location of the tumor suppressor gene RB1 that encodes the retinoblastoma protein. Molecular studies thus far have largely focused on the RB1 locus, using primarily immunohistochemistry and fluorescence in situ hybridization to characterize RB1 status. However, further characterization of the molecular profile of these lesions, including genome-wide copy number variation, remains to be well defined. The goal of this study is to further characterize the specific RB1 deletions seen in spindle cell lipomas/pleomorphic lipomas, cellular angiofibromas, and mammary-type myofibroblastomasas well as to evaluate these neoplasms for additional molecular abnormalities using the OncoScan™ CNV Plus Assay, which is used for clinical use as a whole-genome copy number microarray-based assay. Ten of eleven cases demonstrated deletion of the RB1 gene with varying deletion size and breakpoints. The majority of additional genetic alterations were chromosomal losses and loss of heterozygosity with rare chromosomal gains. Although only a small subset of mesenchymal neoplasms was evaluated, the principle of creating a novel pairing of the molecular method with the tumor type represents a promising avenue for further study in a variety of tumors.

Peyronie disease: a clinicopathologic study of 71 cases with emphasis on histopathologic patterns and prevalent metaplastic ossification

Peyronie disease (PD) is a benign, superficial fibromatosis involving the fascial structures of the penis, causing deformity, pain, and loss of function, for which there are few contemporary studies of the histopathology. We performed a multi-institutional review of 74 routine and consultation specimens submitted with clinical concern for PD. Of these, three non-PD lesions were identified and excluded (a myointimoma, a mammary-type myofibroblastoma, and fibrocalcific atherosclerosis). Of the 71 confirmed to be PD, the majority of patients were white (83%), with a median age of 55 years (range: 26-88). The dorsal aspect of the penis was the most common site involved (78%), followed by lateral (12%) and ventral (10%) aspects. The median degree of curvature was 70° (range: 20-360°). On review, three overall histologic patterns characterized the lesions resected: dense fibrotic plaque (61%), dense fibrotic plaque with focal or patchy metaplastic ossification (35%), and plaque composed predominantly of metaplastic ossification (4%). The fibrotic component was predominantly nodular (18%), hyalinized/lamellar (46%), or mixed (32%), excepting two cases consisting entirely of metaplastic bone. Chronic inflammation, when present, was most often focal and perivascular in distribution. In one case, an excision after collagenase treatmentshowed myxoid change and increased stromal cellularity. Overall, these findings define the range of PD histology, particularly emphasizing that the calcificationnoted clinically nearly always represents bona fide metaplastic ossification. Such context will be of value in evaluating specimens prospectively, in light of changing practices and the use of new technologies for treatment.

Well-Differentiated/Dedifferentiated Liposarcoma Arising in the Upper Aerodigestive Tract: 8 Cases Mimicking Non-adipocytic Lesions.

Well-differentiated (WDL) and dedifferentiated liposarcomas (DL) of the pharynx, larynx and oral cavity are rare, often mimicking benign lipomatous neoplasms or non-lipogenic mesenchymal tumors. Cases of WDL/DL arising in the upper aerodigestive tract, exclusive of the cervical esophagus, were reviewed. Morphologic features, ancillary studies, including fluorescence in situ hybridization (FISH) studies for CPM/MDM2, and clinical data was catalogued. Eight WDL/DL (4 WDL, 4 DL); were identified in patients ranging from 32 to 77 years (median 52.5 years; 6 males, 2 females) with sites of origin including hypopharynx (5 cases), larynx (2 cases) and oral cavity (1 case). Six of the 8 cases were received for expert consultation, and the remaining 2 cases were initially misdiagnosed as benign lymphangiomatous or fibroepithelial polyps. Morphologically, 4 tumors had areas mimicking various non-lipomatous soft tissue tumors including nodular fasciitis, mammary-type myofibroblastoma, low-grade myofibroblastic sarcoma and undifferentiated pleomorphic sarcoma, 2 cases simulated benign hypopharyngeal polyps, and 1 lesion was notable for a dense lymphoplasmacytic infiltrate suggestive of hematolymphoid neoplasm or IgG4-related sclerosing disease. FISH showed amplification of CPM/MDM2 (8/8 cases). All cases (4/4) with longer than 1-year of follow-up recurred (45-118 months) with 1 tumor showing progression to DL. WDL/DL presenting in the upper aerodigestive tract are rare and diagnostically challenging. Awareness of the morphologic spectrum of WDL/DL coupled with appropriate use of MDM2 FISH is essential for accurate classification and management, as these tumors appear to have a high risk for local recurrence and eventual dedifferentiation in these anatomical locations.

Pediatric extramammary myofibroblastoma in the head and neck region: a case report

<p>A rare form of mesenchymal neoplasm that typically presents in older men and women is mammary myofibroblastoma. Even so rarely, these benign tumours may occur outside of the breasts in soft tissues; which then are called mammary-type myofibroblastoma. There can be marked variability in the histological composition of these benign spindle cell tumours. Along the milk line is the commonest presentation of these extramammary myofibroblastoma. Here we have an 8 years old female patient presented to the department of otorhinolaryngology with a painless, fusiform swelling over the right lateral aspect of tongue in the past 6 months. Intra oral examination revealed a non-tender, non-ulcerated fusiform shaped mass approximately 3×2 cm firm in consistency arising from the right lateral border of the tongue. FNAC was done which showed spindle cell tumour tongue. The lesion was diagnosed as mammary type myofibroblastoma on immunohistochemistry.</p>

Mammary-type myofibroblastomas: a report on four cases with emphasis on molecular profiling and literature review

Mammary-type myofibroblastomas: a report on four cases with emphasis on molecular profiling and literature review

Vulvovaginal fibroepithelial stromal polyp with myxoid stroma: A diagnostic dilemma on histology – Report of two cases

Genital stromal tumors are a rare and unique subset of soft-tissue tumors encountered in the vulvovaginal and inguinoscrotal region and this group includes fibroepithelial stromal polyp, superficial (cervicovaginal) myofibroblastoma, cellular angiofibroma, mammary-type myofibroblastoma, angiomyofibroblastoma, superficial angiomyxoma, and deep/aggressive angiomyxoma. The relative rarity and overlapping histomorphological and immunohistochemical features result in a diagnostic difficulty for the pathologists. Herein, we describe two cases of soft-tissue tumors in the vulvovaginal region presenting as polypoidal mass with detailed histopathology and immunohistochemical workup.

Large abdominopelvic mammary-type myofibroblastoma with incomplete resection and recurrence

Large abdominopelvic mammary-type myofibroblastoma with incomplete resection and recurrence

Mammary type myofibroblastoma arising from pelvis

Mammary type myofibroblastoma, originally described in the breast, is a rare benign spindle cell mesenchymal neoplasm. Recently it is also known to occur in other sites of body along the milk line. The purpose of this poster presentation is to discuss differential diagnosis and features helpful in the diagnosis of myofibroblastoma.

Molecular Signature of Tumors with Monoallelic 13q14 Deletion: a Case Series of Spindle Cell Lipoma and Genetically-Related Tumors Demonstrating a Link Between FOXO1 Status and p38 MAPK Pathway

Spindle cell/pleomorphic lipomas (SCLs), cellular angiofibromas (CAFs) and mammary-type myofibroblastomas (MFBs) are rare benign mesenchymal tumors with monoallelic 13q14 deletion. They are predicted to have a common pathogenic mechanism due to shared similar histological and immunohistochemical features; however, pathological consequences of monoallelic 13q14 deletion remain unknown. We previously reported a CAF case with monoallelic 13q14 deletion in which the tumor expressed decreased levels of FOXO1 and RB1, both of which were encoded in 13q14, and increased reactive oxygen species (ROS) levels. We further demonstrated the activation of p38 mitogen-activated protein kinase (p38 MAPK) pathway induced by oxidative stress. We hypothesized that SCLs, CAFs and MFBs would share common molecular signatures involving FOXO1, ROS and p38 MAPK and that their expression patterns were different from those tumors without monoallelic 13q14 deletion such as solitary fibrous tumors (SFTs). We compared the expression levels of FOXO1, RB1, ROS markers and several signal transduction factors between SCLs and SFTs. SCLs expressed decreased levels of FOXO1 and RB1, whereas SFTs showed no change. Both tumor types exhibited increased markers of ROS; however, nuclear localization of phosphorylated p38 was significantly more frequent in SCLs than that in SFTs, suggesting p38 MAPK activation by oxidative stress. SFTs showed lower p38 MAPK activity and higher β-catenin expression, implying that oxidative stress was caused by increased cellular proliferation stress. Finally, CAFs and MFBs showed changes similar to those observed in SCLs. Overall, tumors with monoallelic 13q14 deletion showed shared molecular signatures that might be associated with pathogenesis.

Atypical Spindle Cell Lipomatous Tumor: Clinicopathologic Characterization of 232 Cases Demonstrating a Morphologic Spectrum.

The classification of atypical adipocytic neoplasms with spindle cell features remains challenging. To better define this category of low-grade lipomatous neoplasms, we present herein the clinical, histologic, and immunohistochemical characteristics of a large series of 232 atypical spindle cell lipomatous tumors. The lesions affected 140 males and 92 females, at an average age of 54 years (range, 6 to 87 y), clinically presenting as a persistent or enlarging mass with a median size of 5 cm. The anatomic distribution of the tumors was wide, predominating in the limbs and limb girdles (147 cases, 63%), mainly in the hands and feet (17% and 11%, respectively), with equal distribution between subcutaneous and deeper locations. Microscopic examination revealed a spectrum of histologic appearances. All cases consisted of a poorly marginated proliferation of mildly atypical spindle cells set in a fibrous or myxoid stroma, with a variably prominent admixed adipocytic component showing variation in adipocyte size and scattered nuclear atypia, frequently with univacuolated or multivacuolated lipoblasts. Tumor cellularity and the relative proportion of the different components were very variable. Tumor margins were often ill defined with invasion into surrounding tissues. Two tumors showed morphologic features reminiscent of dedifferentiation. By immunohistochemistry, the neoplastic spindle cells expressed CD34 (64%), S100 protein (40%) and, less frequently, desmin (23%). Expression of Rb was lost in 57% of cases examined. MDM2 and CDK4 were never coexpressed and FISH for MDM2 amplification was consistently negative, highlighting critical biological differences from atypical lipomatous tumor/dedifferentiated liposarcoma. The morphologic differential diagnosis of atypical spindle cell lipomatous tumor is broad, and includes spindle cell lipoma, diffuse neurofibroma, mammary-type myofibroblastoma, dermatofibrosarcoma protuberans, fat-forming solitary fibrous tumor, and morphologically low-grade malignant peripheral nerve sheath tumor. Most patients underwent surgical excision of the primary mass. With a median follow-up of 4 years (range, 1 mo to 20 y), 87% of patients (63/72) were alive with no evidence of recurrence or metastatic disease. Local recurrence of the tumor was observed in 12% of patients (9 out of 72, multiple in 3 of them) at intervals between 6 months and 17 years after resection of the primary tumor. None of the patients developed tumor metastasis or died of disease. Identification of the neoplastic adipocytic component admixed with spindle cells, and recognition of the range of histologic appearances are key for the diagnosis of atypical spindle cell lipomatous tumor. Whereas the risk of metastatic dissemination is minimal, there is a non-negligible risk for local recurrence (13%) which warrants surgical resection with clear margins whenever feasible.

Mammary-Type Myofibroblastoma of the Buttock: A Case Report and Review of the Literature

Mammary-Type Myofibroblastoma of the Buttock: A Case Report and Review of the Literature

S-100 protein expressing spindle cells in spindle cell lipoma: a diagnostic pitfall.

Spindle cell lipoma represents a distinct clinicopathological entity and is related to cellular angiofibroma and mammary-type myofibroblastoma. Spindle cell lipomas are composed of mature lipogenic cells and a variable number of CD34-positive spindle cells that show loss of retinoblastoma protein expression. Spindle cell lipomas occasionally express S-100 protein. We studied one case of purely dermal spindle cell lipoma and four cases of classical subcutaneous spindle cell lipoma arising in one female and four male patients (age ranged from 55 to 69years). The neoplasms arose on the nose, the chin, the neck, the forehead and retroauricular, and all lesions had been marginally or incompletely excised. The studied cases showed classical histological and immunohistochemical features of spindle cell lipoma and, in addition, strong expression of S-100 protein by spindle-shaped tumour cells. S-100-expression in spindle cell lipoma may cause problems in the differential diagnosis with neural and melanocytic neoplasms and emphasizes the plasticity of the spindle cells in spindle cell lipoma.

Mammary-Type Myofibroblastoma with the Nephrotic Syndrome

We describe a 23-year-old white man who presented with anasarca and a new periumbilical mass. He had preserved kidney function and laboratory findings consistent with nephrotic syndrome, including 9.7 g/day albuminuria. Serum serologies were positive for anti-SSa and anti-SSb and low complements but were negative for antinuclear antibody. Pathologic findings of the abdominal mass showed a mammary-type myofibroblastoma. A kidney biopsy revealed a diffuse proliferative and membranous immune-mediated glomerulonephritis with 10% interstitial fibrosis. This is a novel case of mammary-type myofibroblastoma associated with nephrotic syndrome mimicking a proliferative lupus pattern.

Radiologic and Histologic Presentation of Male Mammary Myofibroblastoma

Mammary myofibroblastoma is a rare mesenchymal neoplasm that typically presents in older men and women. Less commonly, these benign tumors may also occur in soft tissues located outside of the breast, in which case they are referred to as mammary-type myofibroblastomas. The histologic composition of this benign spindle cell tumor can be markedly varied. We present a case of a large mammary myofibroblastoma in a male patient and discuss the typical imaging and histologic makeup of these tumors.