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Acral fibrochondromyxoid tumor (AFCMT) is a recently described likely benign mesenchymal neoplasm arising in the distal extremities with distinctive histologic features and a recurrent THBS1::ADGRF5 fusion. We studied an additional 37 cases of AFCMT and expanded on the so-far reported clinicopathologic and molecular findings. Tumors occurred in 21 females and 16 males, ranging in age from 17-78 years (median age: 47), and solely involved the hands (24/37, 65%) or feet (13/37, 35%). Histologic examination revealed well-delineated uni- or multinodular tumors with prominent vasculature-rich septa and bland, chondrocyte-like tumor cells set within abundant chondromyxoid stroma. Immunohistochemical studies showed tumor cells were positive for CD34 (25/27; 93%) and ERG (27/27; 100%), while negative for S100 protein (0/31). Molecular analysis revealed evidence of a THBS1::ADGRF5 fusion in 17 of 19 (89%) successfully tested tumors. Clinical follow-up was available in 8 cases (median: 97 months), with multiple local recurrences in 1 case at 276, 312, and 360 months. We conclude that AFCMT is a distinct entity with reproducible morphologic, immunohistochemical, and molecular genetic features that should be differentiated from other similar appearing acral mesenchymal neoplasms.
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Collision tumors, defined as "two independent neoplasms that occur in close proximity to one another but maintain distinct boundaries," are quite rare. We report an exceptional collision tumor composed of a genetically confirmed malignant glomus tumor and a fumarate hydratase (FH)-deficient leiomyoma, presenting as a subcutaneous thigh mass in a 38-year-old male who was known to have hereditary leiomyomatosis and renal cell carcinoma syndrome. Microscopic examination identified a biphasic subcutaneous mass comprising sheets and nodules of glomus cells, with nuclear atypia and mitotic activity, and fascicles of mitotically inactive smooth muscle with variably pleomorphic nuclei and intracytoplasmic eosinophilic inclusions, features of FH-deficient leiomyoma. Immunohistochemistry demonstrated loss of FH and robust 2-succinocysteine expression in the smooth muscle, with a normal (FH-retained) expression pattern in the glomus tumor. Next-generation sequencing, performed on the glomus tumor component, identified CARMN::NOTCH2 fusion, characteristic of malignant glomus tumors. Awareness of the distinctive morphologic, immunohistochemical, and molecular genetic features of glomus tumors and FH-deficient leiomyomas is important for correct clinical management of patients with exceptional collision tumors of this type.
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Carcinoma de Células Renales , Tumor Glómico , Neoplasias Renales , Leiomiomatosis , Sarcoma , Neoplasias Cutáneas , Neoplasias Uterinas , Masculino , Femenino , Humanos , Adulto , Fumarato Hidratasa/genética , Neoplasias Uterinas/patología , Leiomiomatosis/genética , Neoplasias Cutáneas/patologíaRESUMEN
Tumor-to-tumor metastases are an uncommon phenomenon and are very rare in the context of malignant melanoma. This case report describes a 73-year-old male who underwent an excision of a melanoma from his forehead. Six months later, he developed metastatic disease, including metastasis to a genetically confirmed angiofibroma of soft tissue of the abdominal wall. Angiofibroma of soft tissue is a relatively recently described benign fibrovascular soft tissue tumor, and there appear to be no previous reports of it being a recipient tumor for a metastasis. Awareness of the phenomenon of tumor-to-tumor metastasis and of the distinctive morphologic and molecular genetic features of angiofibroma are critical to avoid misdiagnosis of this very rare event as "dedifferentiated" melanoma.
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Angiofibroma , Neoplasias de Cabeza y Cuello , Melanoma , Neoplasias Primarias Secundarias , Neoplasias Cutáneas , Neoplasias de los Tejidos Blandos , Masculino , Humanos , Anciano , Angiofibroma/patología , Neoplasias de los Tejidos Blandos/patología , Melanoma/genética , Neoplasias Cutáneas/genéticaRESUMEN
We present the cytomorphologic features of Erdheim-Chester disease (ECD) from 7 patients who have a confirmed diagnosis of ECD, including correlation with the histology on the needle core biopsies. ECD is a rare multi-organ neoplastic histiocytic disorder. The most common locations of involvement are long bones, retroperitoneum, and vasculature. Cytologic preparations often show scant cellularity. Even when neoplastic histiocytes are present on smears, they may be readily overlooked as they are not typically monomorphic, and instead exhibit a variety of morphologies from epithelioid to spindled, with multinucleated giant cells variably present. To our knowledge, ours is the first description of a distinct reticular or tigroid background on smears that is variably present due to rupture of the foamy neoplastic cells. Typically, smears from a targeted mass lesion from any site showing scant polymorphous histiocytes would be regarded as non-diagnostic. A diagnosis of ECD in all cases was based on the needle core biopsy with corresponding immunohistochemical (IHC) stains and BRAF mutational analysis, except for one case in which molecular analysis was not able to be performed. We present these cases to alert practicing cytopathologists to the pitfalls related to the highly variable location, smear cellularity, and cytomorphology of ECD, which should prompt the request of dedicated tissue cores at the time of rapid on-site evaluation and trigger careful clinical-radiologic correlation, as well as consultation with hematopathology colleagues.
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Enfermedad de Erdheim-Chester , Neoplasias , Enfermedad de Erdheim-Chester/diagnóstico , Enfermedad de Erdheim-Chester/patología , Histiocitos/patología , Humanos , Neoplasias/patología , Proteínas Proto-Oncogénicas B-raf/genéticaRESUMEN
Mammary Analogue Secretory Carcinoma (MASC) is a recently described salivary gland tumor frequently sampled via fine-needle aspiration. The cytologic features of MASC are not entirely distinctive and can simulate acinic cell carcinoma, but the tumor harbors an ETV6 gene rearrangement resulting in an ETV6-NTRK3 fusion gene. We present a case of MASC arising in a 31 year old man with a history of multiple radio-embolization procedures.
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Carcinoma Secretor Análogo al Mamario , Exposición a la Radiación , Neoplasias de las Glándulas Salivales , Adulto , Biomarcadores de Tumor/genética , Humanos , Masculino , Carcinoma Secretor Análogo al Mamario/genética , Carcinoma Secretor Análogo al Mamario/patología , Proteínas de Fusión Oncogénica/genética , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patologíaRESUMEN
Desmoid-type fibromatosis (desmoid tumors) which involve the pancreas is an infrequent diagnosis which clinically can mimic both neoplastic and non-neoplastic lesions of the pancreas. The cytologic features of loosely cohesive cytologically bland (myo)fibroblastic cells are non-specific, however the long fascicular growth pattern and the presence of ß-catenin mutation with positive nuclear immunohistochemical staining or molecular testing allows for definitive diagnosis. While many previously reported desmoid tumors of the pancreas have been surgically resected, conservative management with a "watch and wait" approach is also an effective mode of management for these tumors. Herein, we report the largest case series of pancreatic desmoid tumors with clinical, cytopathologic, and radiologic correlation.
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Fibromatosis Agresiva , Neoplasias Pancreáticas , Fibromatosis Agresiva/diagnóstico por imagen , Fibromatosis Agresiva/genética , Humanos , Páncreas/diagnóstico por imagen , Páncreas/patología , Neoplasias Pancreáticas/diagnóstico , Estudios Retrospectivos , beta Catenina/genéticaRESUMEN
INTRODUCTION: Loss-of-function mutations in EED and SUZ12, core components of the polycomb repressive complex 2 (PRC2), occur in >90% of sporadic and radiation-associated malignant peripheral nerve sheath tumors (MPNST) and in roughly 70% of NF1-related tumors. PRC2 inactivation results in loss of H3K27me3 expression and aberrant downstream transcription. H3K27me3 expression is lost in 40-90% of spindle cell MPNST but is not specific. A single study has suggested that dimethylated H3K27 (H3K27me2) is a more specific marker of MPNST. METHODS: We compared the expression of H3K27me3 and H3K27me2 by immunohistochemistry in a series of MPNST (n = 26), neurofibroma (n = 11), conventional dermatofibrosarcoma protuberans (n = 8), fibrosarcomatous dermatofibrosarcoma protuberans (n = 7), spindle cell rhabdomyosarcoma (n = 6), high-risk solitary fibrous tumor (n = 9), dedifferentiated chondrosarcoma (n = 7), synovial sarcoma (n = 9), diffuse midline glioma, H3K27-altered (n = 13), conventional diffuse astrocytoma (n = 2), conventional cutaneous melanoma (n = 8), uveal melanoma (n = 8), cellular blue nevus (n = 17) and melanoma arising in blue nevus (n = 6). RESULTS: H3K27me3 and H3K27me2 expression patterns were concordant in 115/137 (84%) with 85 cases (62%) expressing both markers and 30 cases (22%) showing loss of both. Discordant results were seen in 22 cases (H3K27me3 loss with retained H3K27me2, 10 cases (7%); H3K27me3 expression with H3K27me2 loss, 12 cases (9%)). H3K27me2 loss was not specific for MPNST and was also seen in certain other tumors, in particular those in the "blue nevus family". CONCLUSION: We conclude that H3K27me2 loss is not specific for MPNST, and like H3K27me3, should be used in the appropriate clinicopathologic, immunohistochemical and molecular genetic context. Loss of H3K27me2 with retained H3K27me3 is a common feature of "blue nevus family" melanocytic tumors known to harbor GNAQ/GNA11 mutations.
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Melanoma , Neoplasias de la Vaina del Nervio , Neurilemoma , Neurofibrosarcoma , Nevo Azul , Neoplasias Cutáneas , Biomarcadores de Tumor/metabolismo , Metilación de ADN , Histonas/metabolismo , Humanos , Melanoma/diagnóstico , Melanoma/genética , Neoplasias de la Vaina del Nervio/metabolismo , Neurilemoma/diagnóstico , Neurofibrosarcoma/genética , Nevo Azul/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genéticaRESUMEN
Biphasic squamoid alveolar renal cell carcinoma is a newly described rare morphologic variant of papillary renal cell carcinoma. Its characteristic histomorphology and immunophenotype have been well described in the literature. Namely, BSARCC is composed of a dual-cell population with nests of larger squamoid cells surrounded by a single layer of cuboidal cells in alveolar arrangements. Invariably, the squamoid component expresses cyclin D1. More recently, MET alterations have been identified within a subset of BSARCC, raising the possibility for targeted MET inhibitor therapy. To the best of our knowledge the cytomorphologic features of BSARCC have yet to be described. Herein we correlate the cytologic features (percutaneous image-guided fine needle aspiration) of BSARCC to its corresponding histomorphology and immunophenotype (core needle biopsy).
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Carcinoma de Células Renales , Neoplasias Renales , Biomarcadores de Tumor/análisis , Biopsia con Aguja Gruesa , Carcinoma de Células Renales/patología , Humanos , Riñón/patología , Neoplasias Renales/patologíaRESUMEN
NUTM1 gene rearrangements were originally identified in NUT carcinoma. Recently, NUTM1 has been discovered to rearrange with a variety of gene partners in malignancies of diverse location and type. Only one NUTM1-rearranged tumor occurring in the colon has been reported. Herein we report five such tumors. The five tumors occurred in four females and one male, ranging from 38 to 67 years of age (median 51 years). The masses occurred in the colon (cecum, descending, sigmoid) and ileocecal valve region, measuring 2.5-20 cm in size (median 7 cm). Four patients had metastases at presentation (liver, n = 4; lymph nodes, n = 3). Histologically, the lesions arose in the submucosa, infiltrating into the mucosa and muscularis propria, and grew in fibrosarcoma-like fascicles and sheets of epithelioid or rhabdoid cells, with foci of hyalinized to vaguely osteoid-like matrix. The tumors were composed of relatively monomorphic, spindled to epithelioid cells with focal rhabdoid morphology, hyperchromatic nuclei, and small nucleoli. Mitotic activity was usually low (range 1-14/10 HPF; median 5/10 HPF); necrosis was present in two cases. Variable keratin expression and uniform nuclear NUT expression was present; KIT/DOG1 were negative and SMARCB1/SMARCA4 were retained. Next-generation sequencing identified MXD4-NUTM1 rearrangement in all cases (breakpoints: MXD4 exon 5, NUTM1 exons 2 or 3). Follow-up showed one of the four patients who presented with metastases to be dead of disease at 30 months; the other three patients were alive with metastatic disease. The final patient is disease-free, 5 months after diagnosis. NUTM1-rearranged colorectal sarcomas have characteristic morphologic, immunohistochemical, and molecular genetic features, suggesting that they represent a distinct entity within the family of NUTM1-rearranged neoplasia. A NUTM1-rearranged tumor should be considered for any difficult-to-classify submucosal spindle cell neoplasm of the gastrointestinal tract, in particular keratin-positive tumors showing an unusual combination of fibrosarcomatous, epithelioid to rhabdoid and hyalinized morphologies. Recognition of MXD4-NUTM1 rearranged sarcomas may be therapeutically important, even though best treatment is currently elusive/unknown.
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Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Proteínas Represoras/genética , Sarcoma/genética , Sarcoma/patología , Adulto , Anciano , Biomarcadores de Tumor/genética , Femenino , Reordenamiento Génico/genética , Humanos , Masculino , Persona de Mediana Edad , Fusión de Oncogenes/genética , Proteínas de Fusión Oncogénica/genética , PronósticoRESUMEN
Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant primary gastrointestinal mesenchymal tumor which can be diagnosed via fine-needle aspiration (FNA) cytology. In the context of FNA, the diagnosis requires a cell block and the use of significant resources including immunohistochemical stains and molecular testing. The differential diagnosis of GNET includes clear cell sarcoma (CCS), gastrointestinal stromal tumor (GIST), gastric schwannoma, metastatic melanoma, malignant perivascular epithelioid cell tumor (PEComa) and granular cell tumor, among others. Here we describe a case which was initially diagnosed as malignant granular cell tumor by FNA which was later revised to GNET following the finding of an EWSR1-ATF1 fusion gene rearrangement.
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Tracto Gastrointestinal/patología , Tumores Neuroectodérmicos , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Biopsia con Aguja Fina , Proteínas de Unión a Calmodulina/análisis , Proteínas de Unión a Calmodulina/metabolismo , Diagnóstico Diferencial , Femenino , Neoplasias Gastrointestinales/diagnóstico , Neoplasias Gastrointestinales/metabolismo , Neoplasias Gastrointestinales/patología , Tumores del Estroma Gastrointestinal/diagnóstico , Tumores del Estroma Gastrointestinal/metabolismo , Tumores del Estroma Gastrointestinal/patología , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patología , Persona de Mediana Edad , Tumores Neuroectodérmicos/diagnóstico , Tumores Neuroectodérmicos/metabolismo , Tumores Neuroectodérmicos/patología , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/metabolismo , Sarcoma de Células Claras/patologíaRESUMEN
Immunotherapies can lead to an immune compromised state that can allow for opportunistic pathogens such as Rhodococcus to flourish. The vast majority of Rhodococcus infections occur in immunocompromised hosts. Here we describe disseminated Rhodococcus equi infection in a patient with diffuse large B-cell lymphoma treated with immunotherapy. Infection with Rhodococcus can be diagnosed with the aid of cytomorphology and histochemical findings and the organism confirmed by sequencing. In conclusion, Rhodococcus should be considered in the differential of granulomatous inflammation in immunocompromised individuals treated with immunotherapies.
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Purpose: Myxofibrosarcoma (MFS) is a subtype of soft tissue sarcoma with a highly infiltrative growth pattern that leads to a higher risk of inadvertent positive surgical margins and local relapse. Poorly defined tumor margins also pose a challenge for radiation therapy (RT) planning, in terms of treatment volumes and administration of pre- versus postoperative RT. This study aims to evaluate local control and patterns of recurrence in patients with MFS treated with neoadjuvant RT followed by definitive surgical excision. Methods and Materials: Multiple institutional databases were retrospectively searched for patients diagnosed with MFS between 2013 and 2021 who were exclusively treated with preoperative RT followed by definitive surgery at our institution. The endpoints of the study were defined as local tumor recurrence, distant metastasis, and death after the date of definitive surgery. Results: Forty-nine patients met the inclusion criteria and were included in the final study. The median age at diagnosis was 67 years, and 71% of patients were male. The tumor was superficially located in 63% of patients, and the mean tumor size at presentation was 7.8 cm. All patients received neoadjuvant RT and completed their planned course of treatment. Neoadjuvant chemotherapy was administered in 22% of patients. Inadvertent excision (IE) before definitive treatment was performed in 25 patients (51%), 84% of which had superficially located tumors. All margins were assessed using frozen section analysis at the time of definitive surgery, and 100% of patients had negative surgical margins, with 25% having no residual tumor. With a median follow-up of 4.7 years, the 5-year local control rate was 87%, and 5-year overall survival was 98%. Tumor depth was associated with distant metastasis (P < .01). Conclusions: Despite the infiltrative nature of MFS, preoperative RT followed by definitive surgical excision, especially in the setting of a reliable frozen section margin analysis, was associated with excellent local control.
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BACKGROUND: Autoimmune pancreatitis (AIP) is a known mimicker of pancreatic ductal adenocarcinoma both clinically and radiologically. In this study, the authors present their institutional experience in diagnosing AIP on cytology and correlate results with the histologic findings. METHODS: A 14-year computerized search for patients who had histologically confirmed AIP with concurrent or prior cytology was performed. Clinical data, cytology findings, and surgical pathology results were reviewed for analysis. RESULTS: Eighteen patients were identified. The patients showed a male predominance, with a mean age of 59 years. Jaundice, weight loss, and abdominal pain were the most common clinical presentation. Five of 12 patients who were tested for serum immunoglobulin G4 had elevated levels. Cytologic findings of 16 cases that were available for review showed markedly inflamed fibrous stroma (54%) and cytologic atypia (50%). The final cytologic diagnoses were suspicious for adenocarcinoma (n = 1), atypical (n = 8), and benign/negative (n = 9). The corresponding surgical pathology diagnoses were classified as type 1 (n = 10), type 2 (n = 6), and AIP, not otherwise specified (n = 2). All type 2 AIP cases had at least atypical cytologic diagnoses, with one called suspicious for adenocarcinoma and another called adenocarcinoma at the time of rapid on-site evaluation. In contrast, eight of 10 type 1 AIP cases were negative/benign, and two of 10 were atypical. In these two atypical cases, the possibility of AIP was raised because of the presence of inflamed stroma. CONCLUSION: AIP is a pitfall in cytology because moderate-to-marked atypia can be present, especially in type 2 AIP. Because atypia can be severe, the presence of cellular fibrous stroma with lymphocytic stromal infiltrates and the integration of serum immunoglobulin G4 levels could be helpful in avoiding diagnostic overcall in AIP.
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Pancreatitis Autoinmune , Páncreas , Humanos , Pancreatitis Autoinmune/complicaciones , Pancreatitis Autoinmune/diagnóstico , Pancreatitis Autoinmune/patología , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Páncreas/citología , Adenocarcinoma/complicaciones , Adenocarcinoma/diagnósticoRESUMEN
Low-grade fibromyxoid sarcoma (LGFMS) is an uncommon mesenchymal tumor usually arising in the lower extremities and trunk. Only rare examples in the head and neck region have been reported. Fifteen cases of head and neck LGFMS were retrieved. MUC4 was performed on all cases. Results for smooth muscle actins, ß-catenin, desmin, S100 protein, Epithelial membrane antigen (EMA) and STAT6 immunohistochemistry, as well as FUS rearrangement status, were recorded when available. Sites included neck (8), supraclavicular region (4) and orbit (1), parapharyngeal space (1) and lower lip (1). The age of the patients ranged from 3 to 97 years (median, 26 years). Tumors displayed classical morphologic features of LGFMS, as described. All cases (15/15) were positive for MUC4, and all cases tested (4/4) harbored FUS rearrangement. Variable positivity for EMA was identified in one case. Follow-up was available in 11 patients, ranging from 2 to 240 months (mean 71.4 months; median, 44 months). Three tumors recurred locally; none metastasized. In conclusion, although distinctly uncommon, LGFMS may arise in the head and neck region and should be distinguished from other more common spindle cell tumors in these locations. The morphologic, immunohistochemical and molecular genetic features of head/neck LGFMS are identical to those occurring elsewhere. The long-term metastatic risk of LGFMS in these locations remains to be fully elucidated.
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Fibrosarcoma , Neoplasias de los Tejidos Blandos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/metabolismo , Niño , Preescolar , Fibrosarcoma/patología , Cabeza/patología , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Neoplasias de los Tejidos Blandos/patología , Adulto JovenRESUMEN
Plexiform fibrohistiocytic tumor (PFHT) is a mesenchymal tumor of intermediate malignancy, typically occurring in the superficial soft tissues of young patients and displaying a biphasic pattern, with nodules of histiocytoid cells surrounded by fascicles of myofibroblastic spindled cells. The pathogenesis of PHFT is unknown. We comprehensively studied 39 PFHT, occurring in 25 females (66%) and 13 males (34%), ranging from 2 to 55 years of age (median 21 years). The tumors most often occurred in the upper extremity (n = 16, 41%) and ranged from 0.4 to 6.1 cm in size (median 1.5 cm). One patient with known neurofibromatosis type 1 presented with metachronous tumors of the finger and back. Clinical follow-up (29 patients; range 5-168 months; median 60 months) showed 3 tumors to have recurred locally; none was metastasized. One patient died of an unrelated cause; all others were alive without disease at the time of last follow-up. Immunohistochemistry showed the histiocytoid nodules of all cases to contain CD163/CD11c-positive histiocytes and cells negative for both markers ("null cells"). CSF1 expression was present in "null cells" in 7/10 cases (RNAscope chromogenic in situ hybridization). The Ki-67 labeling index was very low (< 5%); Ki-67-positive cells within histiocytoid nodules appeared to represent "null cells." All tested cases were negative for significant mutations or fusion events (TruSight Mutation Panel, TruSight Fusion Panel, Mayo Clinic Melanoma Targeted Gene Panel). We conclude that PHFT may be even more indolent than has been appreciated, although classification as an "intermediate" tumor is correct. We hypothesize that the CSF1-producing "null cells" of PHFT may represent the neoplastic element, with the bulk of the tumor masses comprising recruited and reactive cell populations.
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Biomarcadores de Tumor , Neoplasias Cutáneas , Adulto , Femenino , Humanos , Masculino , Adulto Joven , Inmunohistoquímica , Antígeno Ki-67 , Recurrencia Local de Neoplasia , Neoplasias Cutáneas/patología , Preescolar , Niño , Adolescente , Persona de Mediana EdadRESUMEN
Colony stimulating factor-1 (CSF1) upregulation and CSF1/colony-stimulating factor 1 receptor (CSF1R) signaling pathway is central to the tumorigenesis of tenosynovial giant cell tumors (TGCT) of both localized (LTGCT) and diffuse (DTGCT) types, and has been demonstrated in a small number of malignant tumors (MTGCT) as well. In situ hybridization for CSF1 mRNA has been shown to be potentially useful in the diagnosis of TGCT, although only a relatively small number of cases have been studied. We studied CSF1 mRNA expression using RNAscope chromogenic in situ hybridization (CISH) in standard tissue sections from 31 TGCT and 26 non-TGCT, and in tumor microarray slides (Pantomics normal MN0341, Pantomics tumor MTU391, Pantomics melanoma MEL961). Among normal tissues, CSF1 mRNA expression was invariably present in synovium (10/10, 100%) and absent in all other normal tissues. All LTGCT and DTGCT were positive (24/24, 100%), exclusively in large, eosinophilic synoviocytes. MTGCT contained large clusters of CSF1-positive malignant synoviocytes (8/8, 100%); malignant spindled cells were also positive. Among non-TGCT, CSF1 CISH was less often positive with high specificity (90%). CSF1-positive cases included leiomyosarcoma, giant cell tumor of bone and of soft parts, pulmonary carcinoma and others. The sensitivity and specificity of RNAscope CSF1 mRNA CISH for the diagnosis of TGCT were 100% and 90%, respectively. We conclude that RNAscope CSF1 CISH may be a valuable adjunct for the diagnosis of TGCT of all types, especially those with atypical or malignant morphologic features. Detection of CSF1 mRNA expression may also have predictive significance in cases where use of the CSF1 inhibitor pexidartinib is considered.
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Biomarcadores de Tumor/análisis , Tumor de Células Gigantes de las Vainas Tendinosas/diagnóstico , Hibridación in Situ/métodos , Factor Estimulante de Colonias de Macrófagos/análisis , Adulto , Anciano , Biomarcadores de Tumor/metabolismo , Compuestos Cromogénicos , Diagnóstico Diferencial , Femenino , Humanos , Factor Estimulante de Colonias de Macrófagos/biosíntesis , Masculino , Persona de Mediana Edad , ARN Mensajero/análisisRESUMEN
BACKGROUND: The literature on bone and soft tissue sarcomas (BSTSs) involving effusions and cerebrospinal fluid (CSF) is very limited. METHODS: A computerized search for fluid cytology with a sarcoma diagnosis from 2000 to 2020 was performed. All available cases, including the clinical follow-up, were reviewed. RESULTS: A total of 57 fluids specimens from 36 BSTSs were identified (9 rhabdomyosarcomas, 6 angiosarcomas, 5 epithelioid hemangioendotheliomas, 3 dedifferentiated liposarcomas, 2 chondrosarcomas, 1 extraskeletal myxoid chondrosarcoma, 3 Ewing sarcomas, 2 undifferentiated sarcomas, 3 osteosarcomas, 1 synovial sarcoma, and 1 hybrid low-grade fibromyxoid sarcoma/sclerosing epithelioid fibrosarcoma). There were 22 males and 14 females. The age range was 4 to 82 years (median, 45 years). Sites of involvement included pleural fluid (n = 38), peritoneal fluid (n = 14), and CSF (n = 5). Twenty-four cytology cases were available for review. The cytologic features were nonspecific and ranged from dyshesive to clusters of round, epithelioid, pleomorphic, and occasionally spindle-shaped malignant cells that could easily mimic other non-BSTS malignant tumors. The diagnosis of BSTS was made by comparison with a prior specimen and/or ancillary studies (molecular or immunohistochemical stains). The prognosis was poor because 95% of the patients died of their disease. CONCLUSIONS: The incidence of BSTS in fluid cytology is extremely rare, and it can have cytologic features similar to those of non-BSTS malignancies. Although, in most cases, a comparison with a prior known BSTS specimen may suffice, the use of ancillary studies is extremely helpful in arriving at the correct diagnosis. However, in cases with no known prior malignancy, including BSTS in the differential diagnosis is prudent for preventing misdiagnosis.