RESUMO
BACKGROUND: Pulmonary epithelioid hemangioendothelioma is a rare malignant disease, and most cases are found as multiple lung nodules, rarely as a single nodule. CASE: Computed tomography( CT) in a 71-year-old man revealed a growing 3-mm lung nodule in the left S6 after rectal cancer operation. Wedge resection was performed. A pathological examination resulted in a diagnosis of pulmonary epithelioid hemangioendothelioma based on CD31 and CD34 positivity in immunohistochemistry. CONCLUSION: When new nodules are noted on routine CT scans of other malignancies, it is essencial to make a pathological diagnosis, bearing in mind that pulmonary nodules can arise from a variety of causes.
Assuntos
Hemangioendotelioma Epitelioide , Neoplasias Pulmonares , Nódulos Pulmonares Múltiplos , Neoplasias de Tecido Conjuntivo , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Hemangioendotelioma Epitelioide/diagnóstico por imagem , Hemangioendotelioma Epitelioide/cirurgia , Pulmão/patologia , Nódulos Pulmonares Múltiplos/cirurgia , Tomografia Computadorizada por Raios X , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias Cutâneas/patologiaRESUMO
Extraskeletal myxoid chondrosarcoma (EMC) is an uncommon mesenchymal neoplasm characteristically composed of uniform-appearing round to spindle-shaped cells with eosinophilic cytoplasm and abundant myxoid extracellular matrix. Although the majority of cases harbor a pathognomonic t(9;22) translocation that fuses EWSR1 with the orphan nuclear receptor NR4A3, there are less common variants that partner NR4A3 with TAF15, TCF12, or TFG. By immunohistochemistry, EMC has features of both cartilaginous and neuroendocrine differentiation, as evidenced by inconsistent expression of S100 protein and synaptophysin or INSM1, respectively, in a subset of cases. Given the limitations of available immunohistochemical stains for the diagnosis of EMC, we analyzed genome-wide gene expression microarray data to identify candidate biomarkers based on differential expression in EMC in comparison with other mesenchymal neoplasms. This analysis pointed to CHRNA6 as the gene with the highest relative expression in EMC (96-fold; P = 8.2 × 10-26) and the only gene with >50-fold increased expression in EMC compared with other tumors. Using RNA chromogenic in situ hybridization, we observed strong and diffuse expression of CHRNA6 in 25 cases of EMC, including both EWSR1-rearranged and TAF15-rearranged variants. All examined cases of histologic mimics were negative for CHRNA6 overexpression; however, limited CHRNA6 expression, not reaching a threshold of >5 puncta or 1 aggregate of chromogen in >25% of cells, was observed in 69 of 685 mimics (10.1%), spanning an array of mesenchymal tumors. Taken together, these findings suggest that, with careful interpretation and the use of appropriate thresholds, CHRNA6 RNA chromogenic in situ hybridization is a potentially useful ancillary histologic tool for the diagnosis of EMC.
Assuntos
Biomarcadores Tumorais , Condrossarcoma , Hibridização In Situ , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Humanos , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Condrossarcoma/genética , Condrossarcoma/patologia , Condrossarcoma/diagnóstico , Condrossarcoma/metabolismo , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/genética , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/diagnóstico , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , Hibridização In Situ/métodos , Adulto , Receptores Nicotínicos/genética , Receptores Nicotínicos/metabolismo , Neoplasias de Tecido Conjuntivo/genética , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/diagnóstico , Idoso de 80 Anos ou mais , Imuno-HistoquímicaRESUMO
Phosphaturic mesenchymal tumors are rare, usually benign neoplasms that occur in the soft tissue or bone and are the cause of nearly all cases of tumor-induced osteomalacia. Tumor-induced osteomalacia due to phosphaturic mesenchymal tumor is a challenging diagnosis to make-patients present with variable clinical and radiologic findings and the culprit neoplasm is often small and can occur anywhere head to toe. We present two cases of phosphaturic mesenchymal tumor in the scapular body and plantar foot. In both cases, the patient endured years of debilitating symptoms before a tissue diagnosis was eventually reached. Descriptions of clinical presentation, laboratory workup, surgical resection, and imaging characteristics, with a focus on CT, MRI, and functional imaging, are provided to assist with the diagnosis and management of this rare entity. A brief review of current literature and discussion of the differential diagnoses of phosphaturic mesenchymal tumor is also provided.
Assuntos
Mesenquimoma , Neoplasias de Tecido Conjuntivo , Osteomalacia , Síndromes Paraneoplásicas , Neoplasias de Tecidos Moles , Humanos , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecidos Moles/patologia , Mesenquimoma/complicações , Síndromes Paraneoplásicas/complicações , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/cirurgiaRESUMO
INTRODUCTION: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia. MATERIALS AND METHODS: 40 patients with clinically-confirmed tumor-induced osteomalacia were included in the study, 34 of whom had the tumor localized, 27 underwent surgical treatment and 21 achieved stable remission. RESULTS: The median age was 48 [41; 63] years, 43% were men, the time left from the the onset of the disease was 8 [4; 10] years. Biochemical findings were hypophosphatemia 0.47 [0.4; 0.53] mmol/l, a decrease in the tubular reabsorption phosphate 62 [52; 67]%, and an increase in alkaline phosphatase of 183 [112; 294] units/l. At the time of diagnosis, 100% had multiple pathological fractures, only 10% could move independently, and 77.5% classified the pain as unbearable (8-10 points according to the 10-point pain syndrome scale ). Among the methods used to detect tumors, the most sensitive were scintigraphy with tectrotide with SPECT/CT 71.4% (20/28) and MRI 90% (18/20). In 35% of cases, the tumor was localized in soft tissues and in 65% in bone tissue; The tumor was most often detected in the lower extremities, followed by the head in frequency of localization. 18 patients currently have no remission and they receive conservative treatment (phosphorus and alfacalcidol n=15 and burosumab n=3). In case of achieving remission (n=21), regression of clinical symptoms and restoration of bone and muscle mass was observed. Extensive excision of the tumor without prior biopsy resulted in the best percentage of remission - 87%. CONCLUSION: Tumor-induced osteomalacia is characterized by severe damage to bone and muscle tissue with the development of multiple fractures, muscle weakness and severe pain syndrome. In laboratory diagnostics, attention should be paid to hypophosphatemia, a decrease in the tubular reabsorption phosphate index and increased alkaline phosphatase. The use of functional diagnostic methods with a labeled somatostatin analogue to the subtype 2 receptor and MRI with contrast enhancement are the most accurate methods of topical diagnostics. In case of localization of the tumor, a wide excision without a preliminary biopsy is recommended.
Assuntos
Hipofosfatemia , Neoplasias de Tecido Conjuntivo , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/cirurgia , Neoplasias de Tecido Conjuntivo/patologia , Fosfatase Alcalina , Hipofosfatemia/diagnóstico , Hipofosfatemia/etiologia , Hipofosfatemia/cirurgia , Fosfatos , Fósforo , DorRESUMO
OBJECTIVE: This study aimed to examine the differences in the fungal microbiome between patients with conjunctival mucosa-associated lymphoid tissue (MALT) and healthy controls using metagenomic analysis. METHODS AND ANALYSIS: This case-control study was conducted at Osaka University Hospital in Osaka, Japan, from April 2015 to March 2022. Twenty-five consecutive patients with conjunctival MALT lymphoma and 25 healthy volunteers were included. Metagenomic analysis using Internal Transcribed Spacer (ITS)1 deep sequencing and hierarchical clustering was performed to investigate differences in the fungal microbiome. To assess tear environmental change, we measured tear mucin concentrations using ELISA. RESULTS: Detailed analyses showed fungal dysbiosis and changes in ß-diversity within the conjunctiva of patients with conjunctival MALT lymphoma. Hierarchical clustering revealed that the participants could be divided into three clusters according to the Malassezia abundance: cluster I (Malassezia abundance above 70%), cluster II (Malassezia abundance 25%-70%) and cluster II (Malassezia abundance below 25%). Most patients were included in cluster I, whereas most of healthy controls were included in cluster III. The differences were significant. Tear mucin concentrations were significantly lower in patients with MALT compared with healthy controls. CONCLUSION: The metagenomic analysis using ITS1 deep sequencing was useful for identifying the differences in commensal fungi between patients with MALT lymphoma and healthy individuals. The increased prevalence of the Malassezia genus and the decreased levels of tear mucin can lead to an allergic response of the conjunctiva, resulting in the pathogenesis associated with conjunctival MALT lymphoma. Therefore, it may be beneficial to initiate treatment when a high abundance Malassezia is detected.
Assuntos
Neoplasias da Túnica Conjuntiva , Lacerações , Linfoma de Zona Marginal Tipo Células B , Neoplasias de Tecido Conjuntivo , Neoplasias Cutâneas , Humanos , Linfoma de Zona Marginal Tipo Células B/microbiologia , Estudos de Casos e Controles , Mucinas , Disbiose/patologia , Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/microbiologia , Lacerações/patologia , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias Cutâneas/patologiaRESUMO
ABSTRACT: Squamoid eccrine ductal carcinoma (SEDC) is a poorly documented but likely underrecognized sweat gland malignancy with significant risk for local recurrence and potential for metastasis and rare disease-related mortality. Histopathologically, the tumor demonstrates a biphasic differentiation pattern: superficially, the tumor has squamous differentiation [indistinguishable from well-differentiated cutaneous squamous cell carcinoma (cSCC)], while the deeper aspect has a more infiltrative pattern with prominent ductal differentiation. Diagnosis of SEDC relies upon histopathologic examination alone. Its pathogenesis is poorly understood, and its genomic features have yet to be described. In this article, we characterize the genomic features in a case of SEDC through whole-exome sequencing, then compare its features with cSCC and other eccrine ductal carcinomas. Whole-exome sequencing revealed 30 mutations/Mb with 21 pathogenic or likely pathogenic mutations in total, identified across 14 different genes. The genomic abnormalities identified in this case of SEDC overlap considerably with those found in cSCC but not those of other sweat gland malignancies. The clinical and histopathologic features of SEDC previously reported and the genetic features determined from this case suggest that this tumor may arise initially as a well-differentiated cSCC that subsequently undergoes divergent differentiation focally to resemble a sweat gland malignancy. Genetic analyses of additional cases are warranted to clarify this consideration.
Assuntos
Adenocarcinoma de Células Claras , Neoplasias Ósseas , Neoplasias da Mama , Carcinoma Ductal , Carcinoma de Apêndice Cutâneo , Carcinoma de Células Escamosas , Neoplasias de Tecido Conjuntivo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Humanos , Feminino , Carcinoma de Células Escamosas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Neoplasias Cutâneas/patologia , Sequenciamento do Exoma , Glândulas Écrinas/patologia , Neoplasias Ósseas/patologia , Neoplasias da Mama/patologia , Neoplasias de Tecido Conjuntivo/patologia , Carcinoma de Apêndice Cutâneo/patologia , Adenocarcinoma de Células Claras/patologia , Carcinoma Ductal/patologiaRESUMO
Phosphaturic mesenchymal tumor (PMT) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, and bone calcification disorders. Complete surgical resection of the tumor is believed to be the most effective treatment measure. However, the diagnosis of PMT is very difficult because of its insidious and small size, especially, when it appears in subcutaneous tissue with a chronic non-healing wound. We report a rare case of a 38-year-old man with a chronic non-healing wound on the left hallux for approximately eight months. Plain radiographic images and magnetic resonance imaging (MRI) revealed a cystic radiolucent shadow in the left distal phalanx. Bone scan observations also showed increased uptake in the same location. Histologically, this tumor was composed of numerous spindle cells with clusters of giant cells. The serum FGF23 level was significantly higher before surgery, with higher FGF23 levels closer to the tumor. Reverse transcription polymerase chain reaction and immunohistochemistry further confirmed the high expression of FGF23 in tumors. These data suggest that FGF23 may be a potential causative factor of PMT. The serum FGF23 levels might be useful for the diagnosis of PMT and localization of the tumor. The tumor was CD56- and D2 to 40-positive and CD31-negative. The non-healing wound caused by PMT might be attributed to the invasive growth of the tumor, destruction of intercellular junctions, and decrease in the number of endothelial cells.
Assuntos
Hallux , Mesenquimoma , Neoplasias de Tecido Conjuntivo , Neoplasias de Tecidos Moles , Masculino , Humanos , Adulto , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/metabolismo , Neoplasias de Tecido Conjuntivo/patologia , Hallux/patologia , Células Endoteliais , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Mesenquimoma/diagnóstico , Mesenquimoma/metabolismo , Mesenquimoma/patologiaRESUMO
Most osteomalacia-inducing tumors (OITs) are phosphaturic mesenchymal tumors (PMTs) that secrete fibroblast growth factor 23 (FGF23). These tumors usually occur in the bone and soft tissues, and intracranial OITs are rare. Therefore, intracranial OIT is difficult to diagnose and treat. This paper presents a case of intracranial OIT and shows a review of previous cases. A 45-year-old man underwent nasal cavity biopsy and treatment with active vitamin D3 and neutral phosphate for hypophosphatemia. Amplification of FGF23 mRNA level within the tumor was detected. Subsequently, the surgical specimen was diagnosed with a PMT and was considered the cause of the patient's osteomalacia. The patient was referred to a neurosurgery department for the excision of the intracranial tumor extending to the nasal cavity. After tumor removal, the serum levels of FGF23 and phosphorus were normalized as compared to preoperative those. The patient remains disease-free, without additional treatment, approximately 10 years after surgery, with no tumor recurrence. As per the literature, intracranial OITs usually occur in patients aged 8-69 years. Bone and muscle pain are major complaints. Approximately 60% of the patients reported previously had symptoms because of intracranial tumors. In some cases, it took several years to diagnose OIT after the onset of the osteomalacia symptoms. Laboratory data in such cases show hypophosphatemia and elevated FGF23 levels. Because FGF23 levels are associated with the severity of osteomalacia symptoms, total tumor resection is recommended. PMT and hemangiopericytoma (HPC) are histologically similar, but on immunochemistry, PMT is negative for signal transducer and activator of transcription 6 (STAT6), whereas HPC is positive. FGF23 amplification is seen in PMTs but not in HPCs. Therefore, the analysis of FGF23 and STAT6 was helpful in distinguishing PMTs from HPCs. In cases of hypophosphatemia and osteomalacia without a history of metabolic, renal, or malabsorptive diseases, the possibility of oncogenic osteomalacia should be considered.
Assuntos
Neoplasias Encefálicas , Hemangiopericitoma , Hipofosfatemia , Mesenquimoma , Neoplasias de Tecido Conjuntivo , Osteomalacia , Neoplasias de Tecidos Moles , Neoplasias Encefálicas/complicações , Fatores de Crescimento de Fibroblastos/genética , Fatores de Crescimento de Fibroblastos/metabolismo , Humanos , Hipofosfatemia/etiologia , Hipofosfatemia/patologia , Masculino , Mesenquimoma/complicações , Mesenquimoma/cirurgia , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/complicações , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/cirurgia , Osteomalacia/diagnóstico , Osteomalacia/etiologia , Osteomalacia/patologia , Fosfatos/metabolismo , Fósforo/metabolismo , RNA Mensageiro , Fator de Transcrição STAT6/metabolismo , Neoplasias de Tecidos Moles/complicações , Vitamina DRESUMO
The experience with uterine inflammatory myofibroblastic neoplasms with an unfavorable outcome is limited. We present the clinicopathologic features of 9 such cases, including 8 inflammatory myofibroblastic tumors (IMTs) and 1 epithelioid inflammatory myofibroblastic sarcoma (EIMS). Median patient age for the IMT group was 50.5 years; the patient with EIMS was 43 years old. Patients presented with abnormal uterine bleeding, presumed fibroids, pelvic pain, arthralgia and low-grade fever, as well as an incidental finding. Median tumor size for the IMTs was 8.5 cm. The borders were either infiltrative or well-circumscribed. Histologically, IMTs were purely fascicular or myxoid or showed predominance of one or the other pattern. Seven tumors were spindled, and 1 was both spindled and epithelioid. Tumors had variable nuclear atypia, ranging from grade 1 to 3. All tumors had an inflammatory infiltrate-predominantly lymphocytic, majority had necrosis (62.5%) and none had lymphovascular invasion. 7/8 (87.5%) tumors were positive for ALK-1 by immunohistochemistry (IHC). One tumor was negative for ALK-1 by IHC but was positive for ALK fusion by fluorescence in situ hybridization and had TNS1-ALK fusion by next-generation sequencing (NGS). Three other tumors with NGS testing showed one of the following ALK-fusion partners: FN1, DCTN1, and IGFBP5. The EIMS had infiltrative borders, myxoid and hyalinized patterns, epithelioid cells, and no lymphovascular invasion. This tumor was ALK-1 positive by IHC, had ALK rearrangement by fluorescence in situ hybridization and RANBP2-ALK fusion by NGS. Extrauterine disease at time of diagnosis was noted in 2/8 (25%) of IMTs, and in the single case of EIMS. Seven patients had surgery as primary treatment, 1 patient had neoadjuvant chemotherapy and 1 patient declined treatment. Patients with recurrence were treated with a combination of chemotherapy, targeted therapy, radiotherapy or hormonal therapy. Most patients (71.4%) recurred within 24 months (mos). Two thirds of patients were alive with disease at last follow up (mean 43.6 mos). The patient with EIMS was alive with disease at 22 mos. IMT referral cases were initially diagnosed as smooth muscle tumors in 87.5% of cases; while the EIMS was diagnosed as high-grade endometrial stromal sarcoma. Lack of consideration of IMT in the differential diagnosis of smooth muscle tumors with myxoid features can result in misdiagnosis and under-utilization of targeted therapy in these patients.
Assuntos
Células Epitelioides/patologia , Miofibroblastos/patologia , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias Uterinas/patologia , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia , Diagnóstico Diferencial , Células Epitelioides/química , Feminino , Humanos , Pessoa de Meia-Idade , Miofibroblastos/química , Recidiva Local de Neoplasia , Neoplasias de Tecido Conjuntivo/química , Neoplasias de Tecido Conjuntivo/genética , Neoplasias de Tecido Conjuntivo/terapia , Valor Preditivo dos Testes , Estudos Retrospectivos , Resultado do Tratamento , Neoplasias Uterinas/química , Neoplasias Uterinas/genética , Neoplasias Uterinas/terapiaRESUMO
External auditory canal cancer is a rare disease which can be treated by surgery or chemoradiation. The most common histological type is squamous cell carcinoma, but rare types such as adenocarcinoma have been reported and are thought to be derived from the ceruminous glands. Here, we present a case of ceruminous adenocarcinoma, not otherwise specified (NOS) in the external auditory canal. A 72-year-old woman was referred to our department with discomfort due to a mass in the external ear canal. No typical symptoms of malignancy, such as pain or bleeding, were noted at the initial examination. The patient underwent a total excision under local anesthesia as a diagnostic treatment. She was diagnosed with ceruminous adenocarcinoma, NOS based on the results of immunostaining of the excised specimen, and is currently being followed up as an outpatient. Adenocarcinoma is thought to originate from the cerumen glands of the ear canal and the lack of specific symptoms may make it difficult to differentiate it from benign tumors. Although adenocarcinoma, NOS has been reported in the head and neck region, there have been no reported cases occurring in the external ear canal, and to the best of our knowledge, this is the first report.
Assuntos
Adenocarcinoma , Neoplasias Ósseas , Neoplasias da Mama , Neoplasias da Orelha , Neoplasias de Tecido Conjuntivo , Neoplasias das Glândulas Sudoríparas , Adenocarcinoma/patologia , Idoso , Neoplasias Ósseas/patologia , Neoplasias da Mama/patologia , Meato Acústico Externo/patologia , Neoplasias da Orelha/diagnóstico , Neoplasias da Orelha/patologia , Neoplasias da Orelha/cirurgia , Feminino , Humanos , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias das Glândulas Sudoríparas/patologiaRESUMO
The self-limited nature of nodular fasciitis (NF) is well-known but its precise mechanism has not yet been clarified. We observed that "young" NF (preoperative duration <1 month) consistently contains a higher percentage (~80%) of USP6 break-apart FISH signals than "old" NF (preoperative duration >3 months) (~20%). Thus, we hypothesized that our original observation may reflect a connection with the self-limited nature of NF. Seventeen cases with reliable data concerning the onset were selected, thus approximating the lifetime of each tumor. Besides the USP6 interphase FISH examination, we also checked the most common MYH9-USP6 fusion using RT-PCR. Because of the known pathways of the tumorigenesis of NF, the mRNA level of USP6, TRAIL, IFN-beta, JAK1, STAT1, STAT3, JUN, and CDKN2A was measured using qRT-PCR. Regarding proteins, USP6, p16, p27, TRAIL, and IFN-beta were examined using immunohistochemistry. Targeted gene panel next-generation sequencing (NGS) of three cases was additionally performed. We found a strong negative correlation (p = 0.000) between the lifetime and percentage of USP6 break-apart signals and a strong positive relationship (p = 0.000) between USP6 break-apart signals and mitotic counts. Results of immunostainings, along with qRT-PCR results, favored the previously-suggested USP6-induced negative feedback mechanism through activation of TRAIL and IFN-beta, likely resulting in apoptosis and senescence of tumor cells harboring USP6 fusions. Targeted-NGS resulted in the detection of several variants, but no additional recurrent changes in the pathogenesis of these tumors. We revealed on a cellular level the USP6-induced negative feedback mechanism. In conclusion, we emphasize that in "old" NF, the percentage of USP6 break-apart FISH signals can be as low as 14-27% which can be very important from a differential diagnostic point of view. We emphasize that a careful examination and interpretation of the NGS data is needed before clinical decision-making on treatment.
Assuntos
Biomarcadores Tumorais/genética , Fasciite/genética , Fusão Gênica , Rearranjo Gênico , Neoplasias de Tecido Conjuntivo/genética , Neoplasias de Tecidos Moles/genética , Ubiquitina Tiolesterase/genética , Adolescente , Adulto , Biomarcadores Tumorais/análise , Criança , Pré-Escolar , Fasciite/metabolismo , Fasciite/patologia , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Miofibroblastos/química , Miofibroblastos/patologia , Neoplasias de Tecido Conjuntivo/química , Neoplasias de Tecido Conjuntivo/patologia , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/patologia , Fatores de Tempo , Adulto JovemRESUMO
Mimickers of neuroendocrine neoplasms (NEN) include a number of important pitfall tumors. Here, we describe our experience with mesenchymal mimics of NENs to illustrate their spectrum and draw the attention particularly to a group of mesenchymal/non-epithelial neoplasms (MN) that combine epithelioid histology with neuroendocrine (NE-) features and peculiar genetic abnormalities. In a consultation series of 4498 cases collected between 2009 and 2021, 2099 neoplasms expressing synaptophysin and/or chromograninA were reviewed and analyzed. A total of 364 (18%) were diagnosed as non-NENs, while the remaining tumors were NEN. The group of mesenchymal/non-epithelial neoplasms with NE-features (MN-NE) included 31/364 (8%) cases. These mostly malignant neoplasms showed an epithelioid morphology. While all but one tumor expressed synaptophysin, mostly patchy, only 10/29 (34%) co-expressed chromograninA. A total of 13/31 (42%) of the MN-NE showed EWSR1-related gene fusions (6 Ewing sarcomas, 5 clear cell sarcomas, and 1 desmoplastic small round cell tumor, 1 neoplasm with FUS-CREM gene fusion) and 7 (23%) were SWI/SNF (SMARCB1 or SMARCA4)-deficient neoplasms. The remaining MN-NE included synovial sarcoma, sclerosing epithelioid mesenchymal neoplasm, melanoma, alveolar soft part sarcoma, solitary fibrous tumor, and chordoma. A total of 27/31 MN-NE were from the last 8 years, and 6 of them were located in the pancreas. Eleven MN-NE were initially diagnosed as neuroendocrine carcinomas (NECs). MN-NE with epithelioid features play an increasing role as mimickers of NECs. They mostly belong to tumors with gene fusions involving the EWSR1 gene, or with SWI/SNF complex deficiency. Synaptophysin expression is mostly patchy and chromograninA expression is infrequent in MN-NE of this series and data extracted from literature.
Assuntos
Biomarcadores Tumorais/deficiência , Biomarcadores Tumorais/genética , Carcinoma Neuroendócrino/genética , DNA Helicases/deficiência , Fusão Gênica , Neoplasias de Tecido Conjuntivo/genética , Proteínas Nucleares/deficiência , Proteína EWS de Ligação a RNA/genética , Proteína SMARCB1/deficiência , Fatores de Transcrição/deficiência , Carcinoma Neuroendócrino/química , Carcinoma Neuroendócrino/patologia , Cromogranina A/análise , Modulador de Elemento de Resposta do AMP Cíclico/genética , Técnicas de Apoio para a Decisão , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Neoplasias de Tecido Conjuntivo/química , Neoplasias de Tecido Conjuntivo/patologia , Valor Preditivo dos Testes , Proteína FUS de Ligação a RNA/genética , Sinaptofisina/análiseRESUMO
BACKGROUND: When assessing sharply delineated bone lesions of the mandibular angle on X-rays, numerous diagnoses must be considered. The static bone cavity (Stafne's bone cavity, SBC) is a harmless lingual bone depression of the mandibular angle that usually does not require any treatment. It is essential to differentiate this bone deformity from other lesions that may require treatment. CASE REPORT: The 22-year-old patient was referred for further diagnosis and therapy after osteolysis of the mandible was noticed on a panoramic view (PV). The location and size of the lesion was typical of SBC. Only the three-dimensional representation of the lesion on cone beam computed tomographs revealed an intraosseous lesion. Histological examination of the lesion provided evidence of a fibrous neoplasm. CONCLUSION: The typical image of SBC is ambiguous on plain radiographs such as PV. The radiological diagnosis of the lesion should be based on the representation of the region of interest in different planes.
Assuntos
Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias de Tecido Conjuntivo/diagnóstico por imagem , Adulto , Tomografia Computadorizada de Feixe Cônico , Humanos , Masculino , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Neoplasias Mandibulares/patologia , Neoplasias de Tecido Conjuntivo/patologia , Adulto JovemRESUMO
BACKGROUND: Verrucous venous malformation (VVM), previously called "verrucous hemangioma," typically involves the dermis and the subcutaneous fat. We have encountered patients with VVM confined to the hypodermis. MATERIALS AND METHODS: During a nearly 20-year period, 13 patients, aged 2-17 years, presented with a subcutaneous mass in the limb without clinically obvious epidermal alterations. Consequently, operative excisions did not include the skin. RESULTS: Histopathologically, the specimens were composed of blood-filled channels with morphologic characteristics of capillaries and veins that infiltrated adipose tissue. Aggregates often formed nodules with variable fibrosis and a component of large and radially oriented vessels. A diagnosis of VVM was supported by endothelial immunopositivity for GLUT-1 (25%-75% immunopositive channels in 16/16 specimens); D2-40 (1%-25% channels in 14/15 specimens); and Prox-1 (1%-50% of channels in 14/16 specimens). A MAP3K3 mutation was identified by droplet digital PCR in 3 of the 6 specimens. CONCLUSIONS: Diagnosis of VVM in this uncommon location is challenging because of absence of epidermal changes and lack of dermal involvement. Imaging is not pathognomonic, and mimickers are many. Appropriate immunohistochemical stains and molecular analysis contribute to the correct diagnosis.
Assuntos
Hemangioma/patologia , Neoplasias de Tecido Conjuntivo/patologia , Tela Subcutânea/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
Translocations involving FN1 have been described in a variety of neoplasms that share the presence of a cartilage matrix and may also contain a variable extent of calcification. Fusions of FN1 to FGFR1 or FGFR2 have been reported in nine soft tissue chondromas, mostly demonstrated indirectly by FISH analysis. Delineation of FN1 fusions with various partner genes will facilitate our understanding of the pathogenesis and diagnostic classification of these neoplasms. In this study, we present molecular, clinical, and pathologic features of 12 cartilaginous soft tissue neoplasms showing a predilection for the TMJ region and the distal extremities. We analyzed for gene fusions with precise breakpoints using targeted RNA-seq with a 115-gene panel. We detected gene fusions in ten cases, including three novel fusions, FN1-MERTK, FN1-NTRK1, and FN1-TEK, each in one case, recurrent FN1-FGFR2 fusion in five cases, FN1-FGFR1 in one case, and FGFR1-PLAG1 in one case. The breakpoints in the 5' partner gene FN1 ranged from exons 11-48, retaining the domains of a signal peptide, FN1, FN2, and/or FN3, while the 3' partner genes retained the transmembrane domain, tyrosine kinase (TK) domains, and/or Ig domain. The tumors are generally characterized by nodular/lobular growth of polygonal to stellate cells within a chondroid matrix, often accompanied by various patterns of calcification, resembling those described for the chondroblastoma-like variant of soft tissue chondroma. Additional histologic findings include extensive calcium pyrophosphate dihydrate deposition in two cases and features resembling tenosynovial giant cell tumor (TGCT). Overall, while the tumors from our series show significant morphologic overlap with chondroblastoma-like soft tissue chondroma, we describe findings that expand the morphologic spectrum of these neoplasms and therefore refer to them as "calcified chondroid mesenchymal neoplasms." These neoplasms represent a spectrum of chondroid/cartilage matrix-forming tumors harboring FN1-receptor TK fusions that include those classified as soft tissue chondroma as well as chondroid TGCT.
Assuntos
Fibronectinas/genética , Neoplasias de Tecido Conjuntivo/genética , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Adulto , Idoso , Calcinose/genética , Calcinose/patologia , Feminino , Fator 2 de Crescimento de Fibroblastos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Fusão Oncogênica/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Receptor TIE-2/genética , Receptor trkA/genética , c-Mer Tirosina Quinase/genéticaRESUMO
Traditionally patient owners express their concerns that surgical or diagnostic procedures on a tumor may induce metastasis. In pets, this has been documented in only very rare occasions, e. g. needle path metastases after diagnostic fine needle biopsies of urinary bladder or prostatic tumors. Here, we describe a case of subcutaneous seeding of a feline intracranial grade 1 meningioma 6 months after surgical resection. A 10-year-old male neutered domestic shorthaired cat with typical neurological signs was diagnosed with an extra-axial contrast enhancing mass in the dorsal frontotemporal lobes using magnetic resonance imaging (MRI). Transfronto-parietal bone craniotomy was performed and the 24 × 19 × 22 mm large tumor was largely removed. Tumor recurrence after 12 months resulted in a second surgical tumor removal. In addition, 2 subcutaneous masses of 10 × 4 × 4 mm in size were removed at the site of the original surgical site which were fully separated from the recurring meningeal tumor by the intact frontal bone. Histology and immunohistochemistry suggested the same tumor growth in all 4 masses. Most likely the tumor seeding had been caused during the first surgery. After all, the risk of surgical seeding of a benign tumor seems very low.
Assuntos
Doenças do Gato/patologia , Neoplasias Meníngeas/veterinária , Meningioma/veterinária , Recidiva Local de Neoplasia/veterinária , Neoplasias de Tecido Conjuntivo/veterinária , Animais , Doenças do Gato/diagnóstico por imagem , Doenças do Gato/cirurgia , Gatos , Diagnóstico Diferencial , Imageamento por Ressonância Magnética/veterinária , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/cirurgia , Meningioma/diagnóstico por imagem , Meningioma/patologia , Meningioma/cirurgia , Recidiva Local de Neoplasia/patologia , Neoplasias de Tecido Conjuntivo/etiologia , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/cirurgiaRESUMO
Perianal Paget disease (PPD) is a rare neoplastic condition defined by the presence of atypical Paget cells in the perianal skin, the aetiology of which remains largely unknown. It can be divided in primary forms, arising as an intraepithelial disease or manifestation of an underlying skin adenocarcinoma or secondary forms resulting from epidermotropic spread or metastasis of a concealed carcinoma. Indeed, because of its rarity, clear options regarding the treatment of these patients are yet to be clarified. A high level of suspicion is needed whenever dealing with any unhealed perianal skin lesions and, therefore, the need for close long-term follow-up must be highlighted. Herein, two cases of PPD, one primary and another secondary, treated at the same institution, are presented in an attempt to document the involved complexity and to bring further insight into the understanding of this entity.
Assuntos
Adenocarcinoma/patologia , Doença de Paget Extramamária/patologia , Neoplasias Cutâneas/patologia , Idoso , Canal Anal/patologia , Neoplasias Ósseas/patologia , Feminino , Humanos , Masculino , Neoplasias de Tecido Conjuntivo/patologia , Doença de Paget Extramamária/terapia , Períneo/patologiaRESUMO
Conjunctival stromal tumor (COST) is an emerging entity with only a limited number of cases reported in the literature. In this report, we describe 2 additional cases, review the accumulative clinical and histopathological features and expand on the immunophenotypic property of this entity. COST appears to have a sporadic presentation, affecting both sexes and patients of variable ethnicity and age group and predominantly occurring on the bulbar conjunctiva as a slow-growing asymptomatic or slightly tender mass-like lesion. Histopathologically, COST is characterized by singly dispersed spindle to round cells, often with some degree of degenerative nuclear atypia, within a myxomatous to collagenous stroma. Lesional cells are characteristically positive for CD34 and vimentin, negative for S100, SOX10 and STAT6 and show a normal pattern of staining with RB1 by immunohistochemistry. The reported cases to date have shown an indolent biological behavior, reliably treated by a complete surgical excision.
Assuntos
Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/diagnóstico , Neoplasias de Tecido Conjuntivo/diagnóstico , Biomarcadores Tumorais/análise , Biópsia , Túnica Conjuntiva/cirurgia , Neoplasias da Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/cirurgia , Criocirurgia , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/cirurgia , Resultado do TratamentoRESUMO
We report a case of solitary infantile myofibroma (IM) with partially CD34-positive neoplastic cells on the back of a newborn boy. Ultrasonography showed a multilocular mass with a hypoechoic center surrounded by an isoechoic rim. Histopathological analysis revealed that the lesion was composed of small, round cells that were tightly packed and uniform. The cells had oval nuclei and were pale, CD34-positive, and richly cellular. They had interlacing fascicles of spindle cells with features of myofibroblasts with α-smooth muscle actin positivity. We speculate that neoplastic cells in most IMs differentiate towards myofibroblasts. However, in rare cases, their differentiation is more primitive and they express CD34, with or without α-smooth muscle actin expression.