Myofibroblastoma of the male breast: A case report / Miofibroblastoma en la mama de un varón, descripción de un caso clínico

Myofibroblastoma (MFB) is a rare spindle stromal tumour of the breast that predominates in 60–80 years-old adult males. Its imaging features are nonspecific, leading to misdiagnosis. Thus, core biopsy is needed for definitive diagnosis. Macroscopically, MFB is usually a well-circumscribed, firm and rubbery, unencapsulated, pale white to grey round mass. Microscopically, it consists on spindle cells arranged in haphazardly intersecting fascicles or clusters, thick hyalinized collagen bundles and low mitotic activity with a lack of myoepithelial component and necrosis. Immunohistochemistry shows consistently positive immunoreactivity to vimentin and CD34, while expression of desmin, SMA, bcl-2 and CD99 varies. Oestrogen, progesterone and androgen receptors are usually expressed. They are constantly negative to cytokeratins, EMA, S100 protein, HMB-45 and c-kit (CD117). These differentiate them from fibroadenoma, phyllodes tumour, round pattern gynecomastia, carcinoma and sarcoma, since they present infiltrative growth and are negative to CD34. Wide local excision is curative, with no need of sentinel lymph node biopsy, since local recurrence is extremely low and has been reported to be less than 1.5%. No distant metastases have been described on the literature. We report a rare case MFB on a 73-year-old male attended at our institution presenting with a nodule on the right breast. (AU)

El miofibroblastoma (MFB) es un tumour estromal de células fusiformes que aparece en varones de 60-80 años. Las características radiológicas son inespecíficas, por lo que es necesaria la realización de biopsia para el diagnóstico definitivo. Macroscópicamente se trata de una lesión bien circunscrita, firme, no encapsulada. Microscópicamente consiste en células fusiformes organizadas en fascículos entremezclados con bandas de colágeno hialino, con baja actividad mitótica y ausencia de componente mioepitelial y necrosis. La inmunohistoquímica muestra la expresión constante de vimentina y CD34, con expresión variable de desmina, AML, bcl-2 y CD99. Los receptores de estrógenos, progesterona y andrógenos normalmente son positivos, mientras que la expresión de citoqueratinas, EMA, S100, HMB-45 y c-kit (CD117) es negativa. Estas características lo diferencian del fibroadenoma, tumour filodes, ginecomastia, carcinoma y sarcoma, ya que la mayoría de ellos se caracterizan por ser negativos para CD34 y presentar crecimiento infiltrativo. La tumorectomía es considerada curativa, sin necesidad de realizar biopsia selectiva de ganglio centinela, dado que la recurrencia local es baja (menos del 1,5%). No se ha descrito la presencia de metástasis a distancia en la literatura. Presentamos el caso de MFB en un varón de 73 años que debutó con un nódulo en la mama derecha. (AU)

A lesson in clinicopathological correlation: Plaque-like myofibroblastic tumour presenting as a pruritic plaque in childhood.

Plaque-like myofibroblastic tumour (PLMT) is a rare skin condition which presents in childhood and infancy as a nodular fibrous plaque. Including our case, there are currently only 14 cases reported in the literature. Although it represents a well-defined clinicopathological diagnosis, there is significant under-reporting of this condition secondary to under-recognition and potential misdiagnosis as dermatofibroma.

[Extramammary myofibroblastoma affecting the pelvic region: a case report]. / Myofibroblastome extramammaire de localisation pelvienne: à propos d'un cas.

Mammary myofibroblastoma is a rare soft-tissue tumor. Extramammary myofibroblastomas are particularly rare. We here report the case of a 78-year-old man presenting with pelvic pain relieved by defecation or urination. Rectal examination showed a mass in front of the anterior rectal wall. The magnetic resonance imaging (MRI) showed a well-circumscribed and heterogeneous mass measuring 10 x 6 x 8cm located behind the bladder which was pushed forward in front of the rectosigmoid. Immunohistochemical analyses showed diffuse co-expression on CD34 cells and desmin, Rb expression on most cells, oestrogen receptor expression, intense and diffuse P16 expression and a ki67 proliferation index of 25%. The patient had no recurrence 8 months after radiotherapy followed by surgery. Breast myofibroblastoma is a rare and benign tumor. Recurrence is hardly observed after local treatment. This study highlights the supporting role of radiotherapy in the efficacy of surgery.

Clinicopathologic and Genomic Characterization of Inflammatory Myofibroblastic Tumors of the Head and Neck: Highlighting a Novel Fusion and Potential Diagnostic Pitfall.

Inflammatory myofibroblastic tumor (IMT) is a distinctive fibroblastic and myofibroblastic spindle cell neoplasm with an accompanying inflammatory cell infiltrate and frequent receptor tyrosine kinase activation at the molecular level. The tumor may recur and rarely metastasizes. IMT is rare in the head and neck region, and limited information is available about its clinicopathologic and molecular characteristics in these subsites. Therefore, we analyzed a cohort of head and neck IMTs through a multi-institutional approach. Fourteen cases were included in the provisional cohort, but 1 was excluded after molecular analysis prompted reclassification. Patients in the final cohort included 7 males and 6 females, with a mean age of 26.5 years. Tumors were located in the larynx (n=7), oral cavity (n=3), pharynx (n=2), and mastoid (n=1). Histologically, all tumors showed neoplastic spindle cells in storiform to fascicular patterns with associated chronic inflammation, but the morphologic spectrum was wide, as is characteristic of IMT in other sites. An underlying fusion gene event was identified in 92% (n=11/12) of cases and an additional case was ALK-positive by IHC but could not be evaluated molecularly. ALK represented the driver in all but 1 case. Rearrangement of ALK, fused with the TIMP3 gene (n=6) was most commonly detected, followed by 1 case each of the following fusion gene partnerships: TPM3-ALK, KIF5B-ALK, CARS-ALK, THBS1-ALK, and a novel alteration, SLC12A2-ROS1. The excluded case was reclassified as spindle cell rhabdomyosarcoma after detection of a FUS-TFCP2 rearrangement and retrospective immunohistochemical confirmation of rhabdomyoblastic differentiation, illustrating an important diagnostic pitfall. Two IMT patients received targeted therapy with crizotinib, with a demonstrated radiographic response. One tumor recurred but none metastasized. These results add to the growing body of evidence that kinase fusions can be identified in the majority of IMTs and that molecular analysis can lead to increased diagnostic accuracy and broadened therapeutic options for patients.

Mammary and extramammary myofibroblastoma: multimodality imaging features with clinicopathologic correlation, management and outcomes in a series of 23 patients.

OBJECTIVE: The purpose of this study was to describe the imaging appearance, diagnosis, and management of mammary and extramammary myofibroblastoma (MFB) in a series of 23 patients. METHODS AND MATERIALS: Following institutional review board approval, cases were identified by searching for "myofibroblastoma" in radiology reports. Multimodality imaging and pathological features were assessed. RESULTS: 23 cases of myofibroblastoma were identified in 15 males and 8 females. Most cases were in the breast (20/23, 87%), presenting as a palpable mass or discovered incidentally on mammography in females or chest CT in males. Extramammary MFB lesions (3/23, 13%) presented with symptoms related to mass effect. At imaging, MFB most often demonstrated an oval or irregular mass that was hypoechoic or heterogeneously echogenic with variable margins. MRI showed T2 hyperintensity, diffusion restriction, and plateau kinetics. Extramammary MFB appeared as an enhancing mass with variable fat content and T2 intensity. CONCLUSION: Here we describe imaging and clinicopathological features of mammary and extramammary myofibroblastoma. ADVANCES IN KNOWLEDGE: Imaging description of this rare tumor is limited in the literature, and to date this is the largest case series describing the imaging findings.

Paraneoplastic opsoclonus myoclonus syndrome associated with inflammatory myofibroblastic tumor in a pediatric patient.

Opsoclonus myoclonus syndrome (OMS) is a rare neurological syndrome caused by a paraneoplastic autoimmune process that affects children with neuroblastic tumors. Treatment includes corticosteroids, intravenous gamma globulin (IVIG), rituximab, and other immunosuppressive therapies. Here, we describe a patient diagnosed with OMS associated with a localized inflammatory myofibroblastic tumor. The patient has no evidence of tumor recurrence following surgical resection with 8-month follow-up. The neurologic symptoms resolved with corticosteroids and IVIG. This case demonstrates that in children, neoplasms other than neuroblastoma may be associated with this paraneoplastic syndrome, and highlights the importance of evaluating patients with OMS for underlying malignancies.

Inflammatory myofibroblastic tumor: A demographic, clinical and therapeutic study of 92 cases.

PURPOSE: Inflammatory myofibroblastic tumors (IMT) was a rare kind of tumor defined by WHO since 2012. Little was known about this disease. There were controversies about IMT's behavior, predilection site, age distribution, and the best treatment methods. Here we provided a systematic overview on tumor demographical, clinical, biological features as well as treatment efficacy based on real cases from Surveillance, Epidemiology, and End Results (SEER) database. METHODS: 92 patients diagnosed with IMT by histopathology were drawn from SEER database between 2002 and 2014. Patient demographics, clinical features and treatment information were analyzed. RESULTS: The mean age of onset was 47.4 ± 22.4 years (0 to 83y) and the ages prone to this disease are middle-aged (from 41y to 64y), accounting for 1/3 of all patients. Three peak ages of onsets were 0-4y, 36-40y and more than 50y. 42% of the tumors were located in the soft tissues of limbs, hip, shoulder, head, face and neck. The average tumor sizes were 6.5 ± 5.3cm (1cm to 25cm). Survival in the group of tumor size smaller than 6.5cm was better compared to group of tumor size larger than 6.5cm (P < 0.05). Most of the tumors were malignant or malignant potential (89%), though local and distant metastasis rate were low (5%). Surgery was the most common treatment. However, the survival benefit was still uncertain compared to adjuvant chemotherapy or radiotherapy. Multivariate regression analysis demonstrated that young patients had better survival than old ones. CONCLUSIONS: IMT was a malignant tumor with low risk of local and distant metastasis. The peak ages were 0-4y, 36-40y and more than 50y. The prone sites were the soft tissues of the limbs, hip, shoulder, head, face and neck. Tumor sizes and ages were the factors correlated with survival time.

Inflammatory myofibroblastic tumors-A retrospective analysis of the Cooperative Weichteilsarkom Studiengruppe.

BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) are a rare subgroup of soft tissue tumors. The outcome of patients with IMT has been reported as favorable when the tumor is completely resected. If surgical resection is not possible, systemic therapy has to be considered. However, the best systemic treatment and response rates are currently unclear. METHODS: Thirty-eight patients under the age of 21, who were registered between 2000 and 2014 with a primary diagnosis of IMT, were analyzed. RESULTS: IMT was typically localized intra-abdominally or in the pelvis. In 20 patients, the tumor was resected without further therapy; 17 patients were in complete remission at last evaluation and two patients were in partial remission. Eighteen patients received systemic therapy, 15 of whom had macroscopically incomplete resection. Systemic therapy most commonly consisted of regimens with dactinomycin, ifosfamide or cyclophosphamide, and vincristine, with or without doxorubicin, and it seemed to reduce tumor extension in individual cases. Five-year event-free survival was 74 ± 14% and 5-year overall survival was 91 ± 10% for all patients. The patients who died due to the disease were those with incomplete resection (n = 3). CONCLUSIONS: Surgery without further systemic therapy was a feasible and acceptable therapeutic option for every second patient with IMT. Standard chemotherapy for pediatric soft tissue sarcoma produced favorable results in individual cases and was able to shrink the tumor enough to enable resection. Superior efficacy of new targeted therapies such as anaplastic lymphoma kinase-inhibitors compared to standard chemotherapy has to be proven in the future.

Plaque-Like Myofibroblastic Tumor of Infancy: A New Case Report and Literature Review.

Plaque-like myofibroblastic tumor of infancy is a rare entity, with only a few reports described in the literature. Herein we present a new case of a nodular plaque-like lesion of the left lower back in an 18-month-old boy. The lesion might initially be thought to be a dermatofibroma, but the overall characteristics suggested the diagnosis of plaque-like myofibroblastic tumor of infancy. We also provide a summary of previous reports in the literature about this exceptional tumor.

Uterine inflammatory myofibroblastic tumor: more common than expected: Case report and review.

RATIONALE: Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal neoplasm composed of spindled to epithelioid cells with prominent myxoid stroma and inflammatory infiltrate. It has a low but definite malignant potential. However, its management has never been standardized. PATIENT CONCERNS AND DIAGNOSIS: We present the first case of uterine IMT laparoscopically treated. Moreover, we reviewed the English literature regarding uterine IMT published between 1987 and June 2017. A total of 72 cases of uterine IMT were included. Clinical and pathological characteristics, treatments and outcomes were recorded. INTERVENTIONS AND OUTCOMES: A total laparoscopic hysterectomy with opportunistic bilateral salpingectomy was performed. Patient is free of disease at 6 months of follow-up. LESSONS: Uterine IMT may be identified by anaplastic lymphoma kinase overexpression, its prognosis is usually good, complete excision seems to be effective to avoid relapse and mini invasive surgery seems to be effective and safe to treat uterine IMT. However, considering the age of women affected by disease, conservative management, or medical therapy could be taken in account to avoid surgical injuries and to preserve fertility.

A 15-Year-Old Male Baseball Player With a Mass in the Brachialis Muscle.

A 15-year-old boy presented with a mass in his right arm after suffering a minor injury playing baseball. He had been diagnosed with a hematoma. There was no other outstanding medical/surgical history. Magnetic resonance images showed a heterogeneous mass arising from the brachialis muscle that mainly enhanced peripherally with extremely scant internal nodular enhancement. Core needle biopsy cells were positive for CD31 and CD34, markers for atypical endothelial cells, as well as MIB-1 and p53. The final diagnosis was an angiosarcoma of the brachialis muscle. Pediatric angiosarcoma, particularly within deep tissue, is exceedingly rare. Histological and immunohistochemical modalities led to the diagnosis. Magnetic resonance images suggested a mass with a large cystic/hemorrhagic space that could have been misconstrued as a hematoma had there been absolutely no nodular or septal enhancement. The patient underwent neoadjuvant chemotherapy and radiation before undergoing limb-sparing surgery that included resection of the mass with the brachialis muscle and short head of the biceps muscle. Neoadjuvant treatment was deemed successful due to a drastic reduction in the size of the tumor and 95% tumor necrosis. The patient was disease free 2 years postoperatively. There had been no local/systemic recurrences. He was pain free, had normal elbow function, and had returned to playing baseball. It is important to be extremely suspicious when a patient presents with a hemorrhagic, painless, enlarging mass after sustaining minor trauma. A careful and meticulous biopsy must be completed to achieve the correct diagnosis. Magnetic resonance imaging with gadolinium is recommended for evaluation because these masses can be often misinterpreted as hematomas. [Orthopedics. 2016; 39(3):e545-e548.].

Mammary myofibroblastoma: an update with emphasis on the most diagnostically challenging variants.

Myofibroblastoma (MFB) is a rare benign mesenchymal tumor which usually occurs in the breast parenchyma of both females and males. Although this tumor is typically composed of bland-looking spindle-shaped cells arranged in short fascicles interrupted by keloidal-like collagen fibers, several variations on this basic morphological theme do exist. With the advent of mammographic screening, an increased number of mammary MFBs are being detected and pathologists should be aware of the wide morphological and immunohistochemical spectrum exhibited by this unusual tumor. This review focuses on the most diagnostically challenging variants of mammary MFB, which could represent potential diagnostic pitfalls of malignancy, especially when evaluating needle core biopsies. In this regard the following variants of MFB, including the most recently recognized, will be presented: myxoid MFB, lipomatous MFB, epithelioid cell MFB, deciduoid cell MFB, epithelioid cell MFB with multinodular growth pattern, palisaded/schwannian-like MFB and MFB with extensive myxo-edematous stromal changes. Histological illustrations along with differential diagnostic problems for each single variant of MFB will be provided to offer helpful suggestions for a correct diagnostic approach in daily practice.

Management of musculoskeletal tumors during pregnancy: a retrospective study.

BACKGROUND: In recent years, scientific research has increasingly focused on malignancies during pregnancy. However, the development of musculoskeletal tumors during pregnancy has only been the subject of a few studies so far. The primary aim of this study was to identify the incidence of sarcomas during pregnancy at our musculoskeletal tumor center (MSTC). Secondarily we intended to analyze these cases and discuss possible recommendations regarding diagnostic work-up as well as therapy on the basis of the literature. METHODS: All female patients who had been treated for soft tissue or bone sarcoma at our academic MSTC in the period between the years 2002 and 2010 were screened retrospectively for anamnestic annotations of pregnancy or records of pregnancy in the obstetrical database of our university hospital. The patients who met the criteria for inclusion (diagnosed sarcoma and pregnancy) were enrolled. For every pregnant patient two age-matched female control patients that suffered from tumors with the same histologic type were included. RESULTS: In the period between 2002 and 2010, 240 female patients between the age of 16 and 45 were treated for sarcoma. In eight out of the 240 cases the tumor disease developed or progressed during pregnancy. The delay in diagnosis was approximately eight months and turned out to be significantly higher for pregnant patients compared to non- pregnant controls. Each woman's tumor was misdiagnosed at least once. CONCLUSIONS: Diagnostic follow-up of pregnant women presenting with a growing or painful mass, which is suspected to be a musculoskeletal tumor, should be performed at a specialized tumor center. We recommend a multidisciplinary approach and discussing all possible consequences for mother and child intensively in accordance with the available literature.

Paraneoplastic pemphigus associated with inflammatory myofibroblastic tumour of the mediastinum: A favourable response to treatment and review of the literature.

Paraneoplastic pemphigus (PNP) is an autoimmune blistering disorder that occurs in association with an underlying neoplasm. Inflammatory myofibroblastic tumour (IMT) is a rare low-grade sarcoma of fibroblasts and myofibroblasts associated with inflammatory cells, most commonly occurring in the lung. In this study, a case of PNP associated with IMT of the mediastinum is reported. The patient had a favourable outcome following surgical resection and treatment with a systemic steroid, azathioprine, and i.v. immunoglobulin. The occurrence of PNP with sarcomas, specifically IMT, is noteworthy although it is not well studied in the existing literature.

Management of rectal inflammatory myofibroblastic tumor recurrence.

Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal neoplasm of intermediate malignant potential. It may occur in various anatomic locations, but rarely in the rectum. This is a case discussion of a 36-year-old male patient with IMT of the rectum. After the patient underwent radical surgery, recurrence was seen after 18 months. Because the tumor was very close to the surrounding tissue, palliative tumor resection was performed followed by concurrent chemo-radiation and non-steroidal anti-inflammatory drugs (NSAID). After 2-year follow-up, the patient has no evidence of recurrence or metastasis. Surgical resection is very important for patient with rectal IMT, even in relapse cases. And adjuvant chemoradiotherapy and NSAID are in favor of the incompletely resected tumors as our case. But perhaps, the adjuvant treatments could be helpful after radical resection of rectal tumor.

Inflammatory myofibroblastic tumour: a rare entity with wide differential diagnosis.

Inflammatory myofibroblastic tumour (IMT) is a rare, distinctive mesenchymal neoplasm. Grossly, it appears as a circumscribed mass with a rubbery to firm cut surface. Microscopically, it is characterized by a spindle cell proliferation within a myxoid stroma with admixed plasma cells, lymphocytes and eosinophils. Immunohistochemical staining is usually positive for vimentin, smooth muscle actin (SMA) and anaplastic lymphoma kinase (ALK). ALK gene rearrangement is present in approximately 50-70% IMTs. The standard treatment is surgical resection, and it is essential to differentiate IMT from benign and malignant mimickers so that appropriate therapy may be provided. Clinical and radiological follow-up is required to detect recurrence.

Recurrent laryngeal inflammatory myofibroblastic tumor with positive anaplastic lymphoma kinase mimicking recurrent respiratory papillomatosis: a case report.

Inflammatory myofibroblastic tumor (IMT) of the larynx is an unusual lesion, particularly in the pediatric age group. Laryngeal IMTs in children follow a benign clinical course with reports of only rare recurrences and no metastases. Although anaplastic lymphoma kinase (ALK) has been associated with IMTs, there is only one pediatric laryngeal IMT reported to be ALK-positive with immunohistochemical staining. Here, we present a case of a 10-year-old boy with a laryngeal IMT that recurred four times and was misdiagnosed as recurrent respiratory papillomatosis after the initial three operations. ALK positivity was demonstrated by both immunohistochemical staining and fluorescence in situ hybridization. To the best of our knowledge, this case report is the first to describe a laryngeal IMT that recurred multiple times and was confirmed to be ALK-positive at the molecular level.