RESUMO
The current understanding of inflammatory myofibroblastic tumours (IMTs) of the gynaecological tract has recently been enhanced by their increased recognition. This increase is largely due to greater accessibility to RNA-based molecular assays used to identify their defining ALK rearrangements. This review summarises the clinical characteristics, morphological spectrum, immunohistochemical profile and molecular underpinnings of uterine IMT. Additionally, this review discusses practical diagnostic considerations including overlap between uterine IMT and smooth muscle tumours as well as pregnancy-associated uterine IMT. Finally, we highlight recent literature demonstrating the potential for aggressive behaviour in uterine IMT, including a novel risk stratification model for identifying high-risk IMT.
Assuntos
Neoplasias Uterinas , Humanos , Feminino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/patologia , Neoplasias de Tecido Muscular/genética , Gravidez , Medição de Risco , Miofibroblastos/patologiaRESUMO
The recognition of immunoglobulin G4-related disease (IgG4-RD) as an entity in the pancreaticobiliary tract was followed by a slew of papers describing inflammation and fibrosis containing IgG4-positive plasma cells in a variety of sites including the respiratory tract, leading to the hypothesis that these abnormalities were attributable to IgG4-RD. Predictably, pathologists began to see requests from clinicians to perform IgG4 immunohistochemistry in lung biopsies "to rule out IgG4-RD". Several years later, the notion that IgG4-RD would prove to be the underlying cause of a wide array of fibroinflammatory lesions in the lung has not panned out as promised. To the contrary, it has become clear that IgG4-positive plasma cells are not specific for IgG4-RD, and that large numbers of IgG4-positive plasma cells can be encountered in other well-defined entities, including inflammatory myofibroblastic tumor and nodular lymphoid hyperplasia, as well as in lymphoplasmacytic infiltrates in other entities, including connective tissue disease and idiopathic forms of interstitial lung disease. It has also become clear that raised serum IgG4 levels can occur in settings other than IgG4-RD. These observations suggest that true IgG4-RD of the lung is far less common than previously surmised. Pathologists must familiarize themselves with mimics of IgG4-RD in the lung and exercise caution before attributing lymphoplasmacytic infiltrates in the lung to IgG4-RD.
Assuntos
Doença Relacionada a Imunoglobulina G4 , Humanos , Doença Relacionada a Imunoglobulina G4/patologia , Plasmócitos/patologia , Imunoglobulina G , Diagnóstico Diferencial , Pulmão/patologiaRESUMO
BACKGROUND: We present a case of an inflammatory myofibroblastic tumor cured with a short period of steroid administration, a treatment previously unreported for such cases. CASE PRESENTATION: A 49-year-old man had a chief complaint of chest pain for more than 3 days. Computed tomography (CT) revealed a tumoral lesion suspected to have infiltrated into the right first rib and intercostal muscles, with changes in lung parenchymal density around the lesion. The maximal standardized uptake value on 18 F-fluorodeoxyglucose positron emission tomography/computed tomography was high (16.73), consistent with tumor presence. CT-guided biopsy revealed an inflammatory myofibroblastic tumor with no distant metastases. Surgery was indicated based on the disease course. However, he had received an oral steroid before the preoperative contrast-enhanced CT scan due to a history of bronchial asthma, and subsequent CT showed that the tumor shrank in size after administration; he has been recurrence-free for more than a year. CONCLUSIONS: Surgery is still the first choice for inflammatory myofibroblastic tumors, as the disease can metastasize and relapse; however, this condition can also be cured with a short period of steroid therapy.
Assuntos
Granuloma de Células Plasmáticas , Pneumopatias , Masculino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Fluordesoxiglucose F18 , Esteroides/uso terapêutico , Granuloma de Células Plasmáticas/patologia , Costelas/diagnóstico por imagem , Costelas/patologiaRESUMO
Inflammatory myofibroblastic tumors (IMTs) are intermediate-grade mesenchymal neoplasms commonly characterized by chromosomal rearrangements causing constitutive activation of anaplastic lymphoma kinase (ALK) and/or ALK mutations causing reduced sensitivity to ALK tyrosine kinase inhibitors (TKI). We present a patient with an IMT who initially responded to first-line alectinib, but who later suffered disease relapse and presently survives with moderate residual disease after receiving second-line lorlatinib. Biopsy specimens were analyzed using next generation sequencing (DNA-seq and RNA-seq) and reverse phase protein microarray (RPPA) as part of an institutional Molecular Tumor Board (MTB) study. An EML4-ALK rearrangement and EGFR activation (pEGFRY1068) were present in both the primary and recurrent tumors, while a secondary ALK I1171N mutation was exclusive to the latter. EGFR signaling in the background of a secondary ALK mutation is correlated with reduced ALK TKI sensitivity in vitro, implicating an important mechanism of drug resistance development in this patient. The RPPA results also critically demonstrate that ALK signaling (ALKY1604) was not activated in the recurrent tumor, thereby indicating that standard-of-care use of third- or fourth-line ALK TKI would not likely be efficacious or durable. These results underscore the importance of real-time clinical integration of functional protein drug target activation data with NGS in the MTB setting for improving selection of patient-tailored therapy.
Assuntos
Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Multiômica , Resistencia a Medicamentos Antineoplásicos/genética , Recidiva Local de Neoplasia/tratamento farmacológico , Inibidores de Proteínas Quinases/farmacologia , Inibidores de Proteínas Quinases/uso terapêutico , Proteínas Tirosina Quinases/uso terapêutico , Receptores ErbB/metabolismoRESUMO
Uterine inflammatory myofibroblastic tumors (IMTs) are rare mesenchymal neoplasms that frequently harbor ALK gene rearrangements and have a low risk of metastasis. We reported 3 of these tumors mimicking the appearance of leiomyoma in their recurrence. These patients were 34, 43, and 45 years old. Two uterine tumors demonstrated classic morphology, with combined myxoid, compact fascicular, and hyalinized patterns and spindled cells with bipolar cytoplasmic processes, moderate atypia, and lymphoplasmacytic inflammatory infiltrates. The third had a "leiomyoma-like" appearance, with fascicles of plump spindled cells and a sparse lymphoplasmacytic infiltrate. ALK immunohistochemistry was positive in all the tumors, and all demonstrated ALK rearrangements using fluorescence in situ hybridization (n = 2) and/or RNA sequencing (n = 2). Two classic IMTs recurred at 3 and 50 months in the lung and abdomen, respectively, and recurrent tumors had a "leiomyoma-like" appearance, with 0 and 1 mitosis per 10 high-power fields, no inflammation in 1, and a sparse lymphocytic infiltrate in the other. ALK was positive in both tumors; 1 with available tissue showed an IGFBP5::ALK fusion using RNA sequencing. The third patient, who had a "leiomyoma-like" uterine tumor, experienced multiple recurrences, first in the abdomen at 100 months showing a similar appearance. Subsequent recurrence at 105 months showed transmural invasion of the sigmoid colon and a similar microscopic appearance but with the addition of infiltrative borders, moderate cellularity, mild-to-moderate atypia, and 10 mitoses per 10 high-power fields. Both recurrences were positive for ALK, and RNA sequencing revealed the same ACTG2::ALK fusion transcript identified in the primary tumor. The patient was treated with crizotinib, resulting in prolonged clinical remission, with no evidence of disease at 168 months from the initial surgery. Although "leiomyoma-like" uterine IMTs have been recently described, to our knowledge, this is the first report of recurrence of these tumors and the first report of a "leiomyoma-like" appearance in the recurrences of conventional uterine IMTs. A low threshold for performing ALK immunohistochemistry on recurrent uterine tumors can identify patients who may benefit from tyrosine kinase inhibitors.
Assuntos
Leiomioma , Neoplasias Uterinas , Feminino , Humanos , Quinase do Linfoma Anaplásico/genética , Hibridização in Situ Fluorescente , Recidiva Local de Neoplasia , Leiomioma/genética , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Biomarcadores Tumorais/genéticaRESUMO
An inflammatory myofibroblastic tumor (IMT) is a mesenchymal neoplasm characterized by the proliferation of myofibroblasts and inflammatory cell infiltration. Although radical resection is the only established treatment strategy for IMT, it can cause functional disorders when vital organs are affected. We describe a case of pediatric IMT of the bladder with FN1-ALK (fibronectin 1-anaplastic lymphoma kinase) fusion. Radical resection might lead to urinary disturbance due to the large tumor size at diagnosis. However, the tumor was successfully treated with alectinib, a second-generation ALK inhibitor, followed by transurethral resection of the bladder tumor without any complications.
Assuntos
Neoplasias da Bexiga Urinária , Bexiga Urinária , Humanos , Criança , Quinase do Linfoma Anaplásico , FibronectinasRESUMO
BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) of the liver are rare neoplasms. These tumors are difficult to distinguish from other neoplasms by radiological examination, have uncertain evolution, and there is no consensus on the treatment of these lesions. Hilar tumors can involve the portal vein, hepatic artery, bile duct, and spread to the branches of the portal triad, causing obstructive symptoms, occlusive phlebitis, and portal hypertension. Thus, liver transplantation (LT) is an excellent alternative for locally advanced hilar tumors, since it ensures complete tumor resection with free margins. METHODS/RESULTS: We present a literature review and a case report showing a 3-year-old boy with liver IMT invading the hepatic hilum and inferior vena cava, who underwent a successful living donor liver transplantation that required portal vein and vena cava replacement. CONCLUSION: The incidence of hilar IMTs is low and there is no well-established standard treatment. Liver transplantation for a hilar tumor with vascular invasion was acceptable in this case because the radically of the surgery was the key for the cure, and because the tumor was benign in nature.
Assuntos
Neoplasias dos Ductos Biliares , Transplante de Fígado , Masculino , Humanos , Pré-Escolar , Hepatectomia , Doadores Vivos , Fígado/cirurgia , Artéria Hepática/cirurgia , Veia Porta/cirurgia , Veia Porta/patologiaRESUMO
OPINION STATEMENT: Inflammatory myofibroblastic tumor (IMT), characterized by intermediate malignancy and a propensity for recurrence, has presented a formidable clinical challenge in diagnosis and treatment. Its pathological characteristics may resemble other neoplasms or reactive lesions, and the treatment was limited, taking chemotherapies as the only option for those inoperable. However, discovering anaplastic lymphoma kinase (ALK) protein expression in approximately 50% of IMT cases has shed light on a new diagnostic approach and application of targeted therapies. With the previous success of combating ALK+ non-small-cell lung cancers with ALK tyrosine kinase inhibitors (TKIs), crizotinib, a first-generation ALK-TKI, was officially approved by the U.S. Food and Drug Administration in 2020, to treat unresectable ALK+ IMT. After the approval of crizotinib, other ALK-TKIs, such as ceritinib, alectinib, brigatinib, and lorlatinib, have proven their efficacy on ALK+ IMT with sporadic case reports. The sequential treatments of targeted therapies in may provide the insight into the choice of ALK-TKIs in different lines of treatment for unresectable ALK+ IMT.
Assuntos
Antineoplásicos , Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Quinase do Linfoma Anaplásico , Carcinoma Pulmonar de Células não Pequenas/patologia , Crizotinibe/uso terapêutico , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/metabolismo , Receptores Proteína Tirosina Quinases , Antineoplásicos/uso terapêutico , Inibidores de Proteínas Quinases/uso terapêutico , Inibidores de Proteínas Quinases/farmacologia , Proteínas Tirosina Quinases , Inflamação/diagnóstico , Inflamação/tratamento farmacológico , Inflamação/etiologiaRESUMO
BACKGROUND: Symptoms of inflammatory myofibroblastic tumor (IMT) are atypical, and histopathological misdiagnosis of IMT is still inevitable. Here we present a pediatric case that an eight-year-old boy with recurrent fever for fifteen months, received anti-tuberculosis therapy for five months and was ultimately confirmed to be IMT. CASE PRESENTATION: An eight-year-old boy experienced a recurrent fever for fifteen months, accompanied by cough, vomiting, meteorism, night sweating, and emaciation. Thoracoabdominal computer tomography revealed multiple enlarged lymph nodes in the thorax, abdomen, and axilla, as well as minimal bilateral pleural effusion. Histopathological examinations of the intestines and greater omentum implied fibrous tissue hyperplasia along with eosinophil and lymphocyte infiltration. The patient was initially misdiagnosed with tuberculosis, and symptoms were relieved partially following anti-tuberculosis treatment. However, after four months, the symptoms aggravated again and a subsequent histopathological analysis of a second sample from the greater omentum revealed the presence of IMT. Eventually, after surgical resection of the lesions and chemotherapy, the clinical symptoms in the child gradually alleviated. CONCLUSIONS: The clinical course of IMT is variable, and pediatricians should pay attention to differentiating IMT from tuberculosis.
Assuntos
Neoplasias , Tuberculose , Masculino , Humanos , Criança , Tuberculose/diagnóstico , Tuberculose/tratamento farmacológico , Erros de Diagnóstico , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Congenital peribronchial myofibroblastic tumor (CPMT) is an extremely rare lung disease in infants. It shows benign behavior and has a favorable survival after surgical treatment. CPMT was reported only in cases. Here, we report the longest follow-up known case of CPMT and review the clinical, radiographic and histopathological features of the published literature. CASE PRESENTATION: Ultrasound examination at 30 weeks of gestational age of a healthy 29-year-old female revealed a solid mass in the left lung. Computed tomography (CT) revealed a mass in the left lower lobe. The tumor was removed by lobectomy and pathologically diagnosed with CPMT. The tumor was composed of cartilage, spindle cells and oval cells. Vimentin was strongly positive. Smooth muscle actin (SMA) was positive in the spindle cells. The histopathologic and immunohistochemical features were similar to those in the literature. No ETV6-NTRK3 fusion or ALK rearrangement was detected. Gene mutations in JAK2 and SMO were detected by NGS. She is currently alive for 8 years with no evidence of disease recurrence. CONCLUSIONS: CPMT is a rare lung tumor in infants. Surgical treatment is recommended for CPMT. The prognosis after successful surgery is favorable. The final diagnosis was histopathologic findings. Due to its cellularity, mitotic activity and rapid growth, long-term follow-up should be strengthened. The present patient is alive and well for 8 years after the surgery without recurrence. Gene mutations in JAK2 and SMO were detected, which may be associated with the formation of CPMT.
Assuntos
Neoplasias Pulmonares , Recidiva Local de Neoplasia , Lactente , Feminino , Humanos , Adulto , Seguimentos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/cirurgia , Pulmão/patologia , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
INTRODUCTION: The inflammatory myofibroblastic tumor (IMT) is a very rare lesion with an incidence of less than 0.1% of total neoplasms and with main affection in the lungs. Involvement in the central nervous system is extremely rare, but with a much more aggressive course than IMT diagnosed in the rest of the body. We report the 2 cases presented in our neurosurgery department to date; both were treated satisfactorily without intercurrences in 10 years of follow-up. HISTORICAL BACKGROUND: The World Health Organization described the IMT as a distinctive lesion composed of myofibroblastic spindle cells accompanied by an inflammatory infiltrate of plasma cells, lymphocytes, and eosinophils. CLINICAL PRESENTATION: Clinical manifestations of patients with CNS IMT vary and may consist of headache, vomiting, seizures, and blindness. Seizures are the most common symptom in patients with focal lesions. DIAGNOSIS: The true origin of this entity remains to be elucidated, but to date, etiologies ranging from chromosomal alterations to autoimmune or postinfectious mechanisms have been described. Due to its rarity and non-specificity in imaging, the final diagnosis of IMT in the brain parenchyma relies on pathological examination. MANAGEMENT: Treatment options are controversial and include total or subtotal removal, high-dose steroids, and radiation therapy. In the last decade, the development of ALK Tyrosine Kinase Inhibitors allows the possibility of chemotherapy in those patients harboring ALK mutations. CONCLUSION: IMT is a rare tumor that can exceptionally be found in the CNS. The cause is still unknown although the different studies focus on a neoplastic origin. The diagnosis is based in the use of different modalities of imaging and with histological confirmation. Optimal management is gross total resection whenever possible, is the only established curative treatment. Further research with longer follow-up is needed to clarify the natural history of this rare tumor.
Assuntos
Granuloma de Células Plasmáticas , Neoplasias Pulmonares , Criança , Humanos , Granuloma de Células Plasmáticas/diagnóstico por imagem , Granuloma de Células Plasmáticas/genética , Sistema Nervoso Central/patologia , Receptores Proteína Tirosina Quinases , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/terapia , Neoplasias Pulmonares/patologia , ConvulsõesRESUMO
We report two cases of Intracranial inflammatory myofibroblastic tumor (IMT) with recurrent, cystic, and venous sinus occlusion. The cases show imaging progression from a small lesion (case 1) or absence of lesions (case 2). One of cases recurred 2 years after surgery and was treated with corticosteroids but the tumor was still growing and was resected again. We think the best treatment for IMT is surgical resection.
Assuntos
Granuloma de Células Plasmáticas , Seios Paranasais , Humanos , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/patologia , Corticosteroides , Seios Paranasais/patologia , Granuloma de Células Plasmáticas/patologia , Granuloma de Células Plasmáticas/cirurgiaRESUMO
Inflammatory myofibroblastic tumor (IMT) infrequently involves the sigmoid colon, and has not previously been described in an infant sigmoid colon.An inflammatory myofibroblastic tumor arose from the sigmoid colon of an 11-month-old boy, confirmed by anaplastic lymphoma kinase (ALK), smooth muscle actin (SMA) and desmin immunohistochemical staining. The patient recovered well after complete resection of the tumor.Sigmoid IMT can occur in infancy. This eighth case is the youngest so far. The child did well after surgical resection.
Assuntos
Neoplasias de Tecido Muscular , Neoplasias do Colo Sigmoide , Masculino , Criança , Humanos , Lactente , Colo Sigmoide/patologia , Neoplasias do Colo Sigmoide/diagnóstico , Neoplasias do Colo Sigmoide/cirurgia , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/cirurgia , Neoplasias de Tecido Muscular/patologia , Inflamação/patologiaRESUMO
Inflammatory myofibroblastic tumor (IMT) is a mesenchymal neoplasm of intermediate malignancy. We describe the largest cohort of IMT patients to date, aiming to further characterize this rare, poorly understood tumor. This is a multi-institutional review of IMT patients ≤39 years, from 2000 to 2018, at 18 hospitals in the Pediatric Surgical Oncology Research Collaborative. One hundred and eighty-two patients were identified with median age of 11 years. Thirty-three percent of tumors were thoracic in origin. Presenting signs/symptoms included pain (29%), respiratory symptoms (25%) and constitutional symptoms (20%). Median tumor size was 3.9 cm. Anaplastic lymphoma kinase (ALK) overexpression was identified in 53% of patients. Seven percent of patients had distant disease at diagnosis. Ninety-one percent of patients underwent resection: 14% received neoadjuvant treatment and 22% adjuvant treatment. Twelve percent of patients received an ALK inhibitor. Sixty-six percent of surgical patients had complete resection, with 20% positive microscopic margins and 14% gross residual disease. Approximately 40% had en bloc resection of involved organs. Median follow-up time was 36 months. Overall 5-year survival was 95% and 5-year event-free survival was 80%. Predictors of recurrence included respiratory symptoms, tumor size and distant disease. Gross or microscopic margins were not associated with recurrence, suggesting that aggressive attempts at resection may not be warranted.
Assuntos
Oncologia Cirúrgica , Criança , Humanos , Recidiva Local de Neoplasia , Inibidores de Proteínas Quinases , Receptores Proteína Tirosina QuinasesRESUMO
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is a rare central nervous system (CNS) tumor. We first report a rare case of IMT in the lateral ventricle and describe the magnetic resonance imaging (MRI) findings of the tumor with an emphasis on the advanced MRI features. CASE PRESENTATION: A 49-year-old female patient with headaches and blurred vision for 2 months. Brain MRI revealed a well-circumscribed, lobulated mass occupying the left lateral ventricle trigone, with marked perilesional brain edema. The tumor showed heterogeneous significant hyperintensity on T2-weighted imaging (T2WI) and hypointensity on T1-weighted imaging (T1WI). After the administration of gadolinium, the mass exhibited marked contrast enhancement and the halo sign was observed. On advanced MRI, the lesion showed decreased perfusion on perfusion MRI and reduced diffusion on diffusion-weighted imaging (DWI). On susceptibility-weighted imaging (SWI), there was a punctate low signal intensity in the tumor. The patient underwent surgical resection of the mass and a pathological examination confirmed the lesion to be an inflammatory myofibroblastic tumor with negative expression of anaplastic lymphoma kinase (ALK). This patient had remained healthy without evidence of recurrence during a 20-month follow-up. CONCLUSIONS: On MRI, marked perilesional brain edema, significant hyperintensity on T2WI, hypoperfusion on perfusion MRI but with an obvious enhancement, no diffusion restriction on DWI, and halo sign may be the characteristic findings of intraventricular IMT. The advanced MRI characteristics could provide abundant information to reflect the histological features and physiological metabolic characteristics of the tumor.
Assuntos
Edema Encefálico , Feminino , Humanos , Pessoa de Meia-Idade , Imageamento por Ressonância Magnética , Gadolínio , Imagem de Difusão por Ressonância Magnética , Angiografia por Ressonância MagnéticaRESUMO
Cutaneous inflammatory myofibroblastic tumors (IMT) constitute a rare entity, generating a diagnostic pitfall when diagnosing spindle cell proliferation within the dermis. Raising awareness of this tumor among dermatopathologists remains vital in differentiating it from common cutaneous tumors such as fibrous histiocytoma, atypical fibroxanthoma, melanoma, poorly differentiated carcinoma, and other more aggressive tumors. Accurate diagnosis of IMT aids in ensuring appropriate management and follow-up for patients while preventing unnecessary harm and overtreatment. Here we report a case of a 38-year-old female with a painless, slow-growing nodule of the left posterior scalp initially diagnosed as a dermatofibroma. The histopathological examination revealed an ill-defined dermal nodule of spindled cells without connection or infiltration of the epidermis. At high power, the cells were arranged in fascicles with a prominent background of lymphocytic infiltrate. Immunohistochemical analysis showed strong diffuse immunoreactivity for anaplastic lymphoma kinase (ALK), and targeted RNA sequencing identified a CARS-ALK fusion ultimately confirming the accurate diagnosis of a cutaneous IMT.
Assuntos
Granuloma de Células Plasmáticas , Neoplasias Cutâneas , Adulto , Quinase do Linfoma Anaplásico/genética , Feminino , Fusão Gênica , Granuloma de Células Plasmáticas/diagnóstico , Granuloma de Células Plasmáticas/genética , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genéticaRESUMO
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is a rare disease that mostly occurs in younger people and is located in the lungs in the general population. We report a rare case of adrenal IMT in a patient with HIV infection, which is believed to be the first of its kind worldwide. CASE PRESENTATION: We present a rare case of a 44-year-old man with HIV infection who was diagnosed with adrenal IMT. The patient refused regular highly active antiretroviral therapy 13 years ago until he was admitted to hospital after an adrenal mass was found. The patient underwent successful computed-tomography-guided needle biopsy, and pathological analysis showed fibroblastic-myofibroblastic proliferation with inflammatory infiltration, which confirmed a diagnosis of IMT. We failed to perform complete resection of the tumor because of its diffuse invasion. The patient was complicated with severe multiple pulmonary infections postoperatively because of immunodeficiency, which eventually caused his death 2 months later. CONCLUSION: Differential diagnosis of IMT is difficult, and tumor biopsy is an essential means of diagnosis. Surgical resection is preferred for both adrenal and HIV-related IMTs. Conservative treatment should be considered when there are technical difficulties with complete resection, and most patients have achieved good outcomes. However, more cases and longer follow-up are warranted to confirm long-term outcomes of HIV-related IMT.
Assuntos
Neoplasias das Glândulas Suprarrenais , Granuloma de Células Plasmáticas , Infecções por HIV , Masculino , Humanos , Adulto , Infecções por HIV/complicações , Infecções por HIV/diagnóstico , Diagnóstico Diferencial , Granuloma de Células Plasmáticas/diagnóstico , Granuloma de Células Plasmáticas/cirurgia , Granuloma de Células Plasmáticas/patologia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/cirurgiaRESUMO
Inflammatory myofibroblastic tumor (IMT) of the uterus is an uncommon mesenchymal neoplasm that frequently harbors ALK rearrangements. In this report, we describe the first uterine IMT with a FN1-ROS1 fusion, which occurred in a 43-year-old woman who presented with menorrhagia. Morphologically, the well-circumscribed 3 cm tumor was comprised of compact and myxoid foci of relatively bland spindle cells admixed with scattered chronic inflammatory cells limited to the myxoid areas. ROS1 showed moderate cytoplasmic granular staining in < 30% of cells in the myxoid foci, while ALK was negative. RNA sequencing detected a FN1-ROS1 rearrangement that fused FN1 exon 37 to ROS1 exon 34. Although non-ALK-rearranged uterine IMTs are exceedingly rare, this example highlights the importance of performing ROS1 immunohistochemistry and/or molecular analysis in ALK-negative uterine neoplasms morphologically compatible with IMT.
Assuntos
Quinase do Linfoma Anaplásico/genética , Fibronectinas/genética , Neoplasias de Tecido Muscular/genética , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Uterinas/genética , Adulto , Feminino , Humanos , Inflamação/diagnóstico , Inflamação/genética , Inflamação/patologia , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/patologia , Proteínas de Fusão Oncogênica/genética , RNA-Seq , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologiaRESUMO
Uterine epithelioid and myxoid leiomyosarcomas and inflammatory myofibroblastic tumors are rare mesenchymal neoplasms. Next-generation sequencing recently detected novel PGR fusions in uterine epithelioid leiomyosarcomas that demonstrate characteristic rhabdoid and spindled morphology. PLAG1 gene fusions have also been identified in a subset of myxoid leiomyosarcomas and are associated with PLAG1 overexpression. ALK rearrangements underpin the vast majority of uterine inflammatory myofibroblastic tumors, which demonstrate morphologic, and immunohistochemical features similar to those of inflammatory myofibroblastic tumors elsewhere. This review summarizes the morphologic, immunophenotypic, and molecular genetic features of PGR fusion-positive epithelioid leiomyosarcoma, PLAG1 fusion-positive myxoid leiomyosarcoma, and inflammatory myofibroblastic tumors of the uterus.
Assuntos
Proteínas de Ligação a DNA/genética , Receptores de Progesterona/metabolismo , Neoplasias Uterinas/genética , Adulto , Biomarcadores Tumorais/genética , Proteínas de Ligação a DNA/metabolismo , Feminino , Fusão Gênica , Rearranjo Gênico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Pessoa de Meia-Idade , Neoplasias de Tecido Muscular/genética , Neoplasias de Tecido Muscular/metabolismo , Receptores de Progesterona/genética , Tumor de Músculo Liso/genética , Tumor de Músculo Liso/metabolismo , Fatores de Transcrição/genética , Neoplasias Uterinas/metabolismoRESUMO
Background: Inflammatory myofibroblastic tumor (IMT) is a mesenchymal neoplasm with unknown etiology and recurrent potential. They are widely reported in children and young adults. Nearly 50% of inflammatory myofibroblastic tumor harbor rearrangement in anaplastic lymphoma kinase (ALK) gene with the majority expressing ALK protein. ALK-negative IMTs harbor alteration in ROS1 gene in a subset of cases. Few reports have shown association of IMT with Epstein-Barr virus (EBV). Case report: We report a case of IMT of the spleen in an 18-month-old infant presenting with abdominal distention and failure to thrive. Workup for ALK-1, ROS1, and EBV small-encoded RNA in-situ hybridization using immunohistochemistry was negative. Conclusions: IMT can arise in an infant spleen.