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A wide spectrum of benign and malignant primary mesenchymal tumors and tumor-like lesions of the spleen has been recently included under the umbrella term 'stroma-derived' neoplasms and tumor-like lesions. These include dendritic cell neoplasms such as follicular dendritic cell sarcoma, EBV-positive inflammatory follicular dendritic cell sarcoma, and fibroblastic reticular cell tumor; smooth muscle and myofibroblastic lesions such as inflammatory pseudotumor, EBV-associated smooth muscle tumor and undifferentiated pleomorphic sarcoma as well as a diverse spectrum of vascular and vascular-stromal tumors and tumor-like lesions. While some tumor and tumor-like lesions are unique to the spleen, others may also occur in diverse extra-splenic viscera. These tumors and tumor-like lesions demonstrate characteristic histopathology, immunocytochemistry and biological behavior. While cross-sectional imaging studies allow detection, staging and limited characterization of these splenic lesions, histopathological confirmation permits optimal management and surveillance strategies.
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There is a diverse group of non-gastrointestinal stromal tumor (GIST), mesenchymal neoplasms of the gastrointestinal (GI) tract that demonstrate characteristic pathology and histogenesis as well as variable imaging findings and biological behavior. Recent advancements in tumor genetics have unveiled specific abnormalities associated with certain tumors, influencing their molecular pathogenesis, biology, response to treatment, and prognosis. Notably, giant fibrovascular polyps of the esophagus, identified through MDM2 gene amplifications, are now classified as liposarcomas. Some tumors exhibit distinctive patterns of disease distribution. Glomus tumors and plexiform fibromyxomas exhibit a pronounced affinity for the gastric antrum. In contrast, smooth muscle tumors within the GI tract are predominantly found in the esophagus and colorectum, surpassing the incidence of GISTs in these locations. Surgical resection suffices for symptomatic benign tumors; multimodality treatment may be necessary for frank sarcomas. This article aims to elucidate the cross-sectional imaging findings associated with a wide spectrum of these tumors, providing insights that align with their histopathological features.
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Neoplasias Gastrointestinales , Humanos , Neoplasias Gastrointestinales/diagnóstico por imagen , Neoplasias Gastrointestinales/genética , Neoplasias Gastrointestinales/patología , Tumores del Estroma Gastrointestinal/diagnóstico por imagen , Tumores del Estroma Gastrointestinal/genética , Tumores del Estroma Gastrointestinal/patología , Diagnóstico por Imagen/métodosRESUMEN
Amyloid is an extracellular deposition of Congo red positive material which shows apple green birefringence under polarized light. A cytopathologist can uncommonly encounter such cases. Among the reported cases, a fine-needle aspiration (FNA) of amyloid is frequently misinterpreted as acellular nondiagnostic material. We report a case of amyloidoma of the right upper arm in a 68-year-old man with history of renal transplantation for diabetic nephropathy who presented with loss of appetite and weight loss. Physical exam showed a 7 cm hard nodular subcutaneous mass in the right upper arm. FNA yielded abundant acellular, irregular fragments of dense material, which was Congo red positive with apple green birefringence by polarized light, consistent with amyloid. Further subtyping of the amyloid by mass spectrometry, showed AIns (insulin)-type amyloid deposition. After further questioning, the patient admitted to injecting insulin at the same site for many years. Awareness of the cytological features is important for diagnosis. This is especially important when dealing with uncommon sites and without adequate clinical information.
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Amiloidosis , Neoplasias de los Tejidos Blandos , Masculino , Humanos , Anciano , Insulina , Biopsia con Aguja Fina , Rojo Congo , Amiloidosis/diagnóstico , Amiloide , ExtremidadesRESUMEN
BACKGROUND: Amyloid, presenting as a mass, is termed amyloidoma. Among the reported cases, fine-needle aspiration (FNA) of amyloid is often misinterpreted as acellular nondiagnostic material. METHODS: A computer search of all FNAs was performed and cases diagnosed as amyloidoma were identified. RESULTS: Among 11,956 cases and 20,634 FNAs, there were six cases and 12 FNAs of amyloidoma. One case with mucin/myxoid matrix was misinterpreted as amyloid, which on our review was Congo red negative. All five other cases of amyloidoma were adequate for evaluation. The smears showed most of the aspirated contents in the middle of the slide and it did not spread when smeared. The amyloid was present as large chunks of waxy, smooth, orangophilic/cyanophilic fragments on Papanicolaou stain and as basophilic fragments on Diff-Quik stain in a clean background. In cases with lymphoma/myeloma, there were admixed lymphocytes and/or plasma cells. Unlike fibrous tissue, amyloid aspirates well and provides adequate material for interpretation. The clean background distinguishes it from mucin/myxoid matrix. Congo red stain was positive with apple green birefringence in all five cases. Further subtyping by mass spectrometry showed AL (κ) type in three patients and AIns (insulin) type in one patient. In one patient with lymphoma, the subtyping was not done. CONCLUSION: FNA of amyloidoma is rare (0.04%), but an optimal method for diagnosis and subtyping, avoiding unwanted surgical interventions. Although mistaken for fibrous tissue, which aspirates poorly, abundant acellular orangophilic/cyanophilic material on FNA should raise a suspicion for amyloid. Unlike mucin/myxoid matrix, amyloid does not smear the background.
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Amiloidosis , Linfoma , Neoplasias de los Tejidos Blandos , Humanos , Biopsia con Aguja Fina , Rojo Congo , Amiloidosis/diagnóstico , Amiloidosis/patología , Amiloide/análisis , MucinasRESUMEN
ABSTRACT: Primary cutaneous mucinous carcinoma is a rare, indolent malignancy with a debated history regarding cell of origin. Recurrence is rare but has been documented in up to a third of cases. Recent literature reviews have recognized 2 possible subtypes-neuroendocrine and nonneuroendocrine- with different possible prognostic implications for patients. We describe a case of recurrent primary cutaneous mucinous carcinoma in a 50-year-old man with subtle neuroendocrine features not initially recognized on routine H&E staining but highlighted by immunohistochemical studies. We underscore the importance of immunohistochemical use in these rare cases and emphasize that awareness of these neuroendocrine and nonneuroendocrine subtypes is essential for a complete diagnosis.
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Adenocarcinoma Mucinoso , Carcinoma Neuroendocrino , Neoplasias Cutáneas , Masculino , Humanos , Persona de Mediana Edad , Cuero Cabelludo/cirugía , Cuero Cabelludo/patología , Adenocarcinoma Mucinoso/cirugía , Adenocarcinoma Mucinoso/patología , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Carcinoma Neuroendocrino/patologíaRESUMEN
INTRODUCTION: Scalp masses are often the initial presentation of a widely disseminated malignancy. Fine-needle aspiration (FNA) is an optimal method for obtaining an accurate tissue diagnosis, in these patients with initial presentation and those with a known malignancy. MATERIALS AND METHODS: We reviewed all FNAs of skin and soft tissue lesions from the scalp at our institution over a period of 31 years (1990-2021). Relevant clinical information was obtained from the review of computerized patient record. The histologic type, presentation, previous diagnoses, and survival after the diagnosis were correlated. RESULTS: Thirty patients with scalp masses were identified. All the patients were males with a median age of 61 years (27-81 years). The scalp masses ranged from 0.4 to 6 cm in size. Ten cases (33%) were benign, but the majority of cases (n = 20, 67%) were malignant. Of the malignant lesions sampled, 1 case was a primary squamous-cell carcinoma (SCC), and the remaining 19 cases were metastatic tumors. Of these, 13 cases (68.4%) had a previously diagnosed malignancy. Most of the 19 metastatic lesions were adenocarcinomas or poorly differentiated carcinomas (n = 12, 63.2%), followed by melanoma (n = 4), SCC (n = 1), alveolar soft part sarcoma (n = 1) and large cell lymphoma (n = 1). The most common site of primary was the gastrointestinal tract (6/19, 31.5%) and lung (6/19, 31.5%). The average survival after the diagnosis of these scalp metastases was around 6.3 months, signifying a poor prognosis. CONCLUSION: In our patient population, most scalp masses were metastatic tumors. Metastasis to the scalp signals advanced disease and is associated with a very poor prognosis. FNA is an easy, safe, rapid, cost effective and precise modality for diagnosing these masses. It can also yield material for molecular testing for newer directed therapies, if needed.
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Adenocarcinoma , Carcinoma de Células Escamosas , Masculino , Humanos , Persona de Mediana Edad , Femenino , Biopsia con Aguja Fina/métodos , Cuero CabelludoRESUMEN
Squamous cell carcinoma (SCC) arising from an epidermal inclusion cyst (EIC) is uncommon. We present a case of a 70-year-old man with a scalp nodule with persistent discharge that was resected based on the clinical impression of an EIC. Histopathologic exam showed an infundibular EIC with an epidermal type of squamous epithelium; however, some of the cyst lining and lumen was replaced by squamous proliferation with malignant features. There are 56 cases of SCC arising in EICs reported in the English literature. Though suspected EICs are commonly benign, a thorough pathologic evaluation is required to rule out malignancy.
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Mesenchymal neoplasms of the urinary bladder are exceedingly rare and display remarkable diversity. These tumors demonstrate distinct pathological features as well as variable biological behavior and cross-sectional imaging findings. The rarity of tumors, nonspecific symptoms and seemingly normal cystoscopic findings (particularly with small and exophytic tumors) frequently lead to misdiagnosis or missed diagnosis. While some tumors display characteristic cross-sectional imaging findings that may suggest a diagnosis, imaging findings are mostly nonspecific. Histopathological examination is required for accurate diagnosis, management and prognostication. The purpose of this article is to review the cross-sectional imaging findings of a diverse spectrum of mesenchymal tumors of the urinary bladder.
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Neoplasias de la Vejiga Urinaria , Vejiga Urinaria , Diagnóstico por Imagen , Humanos , Pelvis/patología , Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/diagnóstico por imagen , Neoplasias de la Vejiga Urinaria/patologíaRESUMEN
ABSTRACT: Also referred to as "osteoclast-rich, clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT)," malignant gastrointestinal neuroectodermal tumor is a newly described, rare, aggressive sarcoma that commonly arises in the small bowel, stomach, and colon. Histogenesis is likely from an autonomous nervous system-related primitive cell of neural crest origin. The hallmark genetic finding of EWS-CREB1 or EWS-ATF1 fusion transcripts clinches the diagnosis. Annular constrictive lesions tend to be smaller, show homogenous contrast enhancement on computed tomography, and may present with bowel obstruction. Larger, expansile masses tend to be exophytic and show heterogeneous contrast enhancement. Surgical resection is the mainstay of treatment. Frequent recurrences, metastases, and death from disease in 75% of patients portend a poor prognosis. Targeted chemotherapy based on specific tumor pathways is being developed.
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Neoplasias Gastrointestinales , Tumores Neuroectodérmicos , Sarcoma de Células Claras , Neoplasias de los Tejidos Blandos , Neoplasias Gastrointestinales/diagnóstico por imagen , Neoplasias Gastrointestinales/patología , Humanos , Tumores Neuroectodérmicos/diagnóstico por imagen , Tumores Neuroectodérmicos/patología , Sarcoma de Células Claras/genética , Sarcoma de Células Claras/patologíaRESUMEN
BACKGROUND: Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide and it may present initially with extrahepatic spread in 5%-15% cases. It most commonly metastasizes to lungs, lymph nodes and adrenal glands. Skeletal metastases from HCC are uncommon and carry a very poor prognosis. METHODS: We retrospectively reviewed all fine needle aspiration (FNA) specimens of metastatic HCC at our institution from January 1994 to March 2021 using the SNOMED search computer option. Relevant clinical information was obtained from the review of patient's electronic medical records. RESULTS: There were 36 FNAs of metastatic HCC over a period of 27 years. Six patients (16.7%) were found to have skeletal metastases. All six patients were males with a median age of 59 years (54-71 years) and their lesions were osteolytic. The most common site of metastases was vertebra (3/50%). Most patients (67%) had bone metastases as an initial presentation, without prior history of HCC. The mean survival after the diagnosis of skeletal metastases was only 8 months. CONCLUSION: Detection of extrahepatic HCC to bone is important to avoid any unwanted surgical intervention. In our patient population, the most common site of skeletal metastases from HCC was vertebra, therefore in FNAs of vertebral lytic masses, metastatic HCC should be considered. On FNA, extrahepatic metastases of HCC can mimic other poorly differentiated tumors. They behave in an aggressive fashion, resulting in a grim prognosis. Cytological substrates can be used for future molecular testing, if needed.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Veteranos , Biopsia con Aguja Fina , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patología , Femenino , Humanos , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
There is a wide spectrum of benign and malignant mesenchymal neoplasms of the prostate, which account for less than 1% of all prostatic tumors. These include distinctive tumors that arise from the specialized prostatic stroma and site-agnostic neoplasms such as smooth muscle tumors, fibrous or myofibroblastic neoplasms, neurogenic tumors, vascular tumors, and a plethora of sarcomas. Select tumors show classic sites of origin within the prostate. While stromal tumors of uncertain malignant potential (STUMPs) commonly involve the peripheral zone at the prostate base, leiomyomas typically originate from the central prostate toward the apex. Some "prostatic" neoplasms such as gastrointestinal stromal tumors, solitary fibrous tumor (SFT), paragangliomas, and neurogenic tumors arise primarily from periprostatic soft tissues. Most mesenchymal tumors of the prostate and seminal vesicles manifest as large tumors that cause nonspecific symptoms; prostate-specific antigen level is not typically elevated. Diverse mesenchymal neoplasms demonstrate characteristic histopathologic and immunocytochemical features and variable cross-sectional imaging findings. While leiomyoma and SFT typically display low signal intensity on T2-weighted images, synovial sarcomas commonly show hemorrhage. Diagnosis is difficult because of the rarity and lack of awareness of the tumors and the significant overlap in histopathologic features. Select tumors show characteristic genetic abnormalities that allow the diagnosis to be established. For example, more than 90% of SFTs are characterized by a unique NAB2-STAT6 gene fusion, and more than 95% of synovial sarcomas are associated with a distinctive SYT-SSX chimeric transcript. Accurate diagnosis is imperative for optimal management owing to markedly different tumor biology as well as attendant therapeutic and prognostic implications. While STUMPs commonly recur, sarcomas typically charter an aggressive course with poor prognosis. Online supplemental material is available for this article. ©RSNA, 2022.
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Próstata , Tumores Fibrosos Solitarios , Biomarcadores de Tumor/genética , Diagnóstico Diferencial , Humanos , Masculino , Recurrencia Local de Neoplasia , Próstata/diagnóstico por imagen , Próstata/patología , Vesículas Seminales/diagnóstico por imagen , Vesículas Seminales/patología , Tumores Fibrosos Solitarios/patologíaRESUMEN
OBJECTIVES: Aberrant expression of the mesenchymal epithelial transition factor (MET) gene has been observed in several malignancies, and drugs targeting the MET gene have been implicated in clinical trials with promising results. Hence, MET is a potentially targetable oncogenic driver. We explored the frequency of MET gene high copy number in melanomas and carcinomas. METHODS: The study group included 135 patients. Tissue microarrays were constructed with 19 melanomas and 116 carcinomas diagnosed from 2010 to 2012. We screened MET gene copy number by fluorescence in situ hybridization analysis using probes for MET gene and CEP7 as control. RESULTS: We found MET gene amplification in 2 (11%) of 19 melanoma cases, whereas 5 (26%) of 19 melanoma cases showed polysomy. For carcinomas, there was no MET gene amplification identified. However, 8 (7%) of 116 cases showed polysomy. CONCLUSIONS: In our study, MET gene amplification was identified in 11% of melanomas and is relatively concordant with few reported studies. However, about 26% of the additional melanoma cases showed MET gene polysomy, which has not been reported as per our knowledge. If these results are validated with further orthogonal studies, more of the melanoma cases could potentially benefit from targeted therapy with MET tyrosine kinase inhibitors.
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Neoplasias Pulmonares , Melanoma , Variaciones en el Número de Copia de ADN , Amplificación de Genes , Dosificación de Gen , Humanos , Hibridación Fluorescente in Situ/métodos , Neoplasias Pulmonares/patología , Melanoma/tratamiento farmacológico , Melanoma/genética , Proteínas Proto-Oncogénicas c-met/genéticaRESUMEN
INTRODUCTION: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor with characteristic BRD4-NUTM1 translocation and a poor prognosis. The primary objective of this study was to describe the clinical and radiologic features, treatment response, and survival of NUT carcinoma (NC). MATERIALS AND METHODS: This retrospective single-center study was based on the review of medical records of NC patients with a specific genetic rearrangement or positive anti-NUT nuclear staining. Overall survival (OS) was analyzed according to primary tumor location. RESULTS: This series of 22 patients had a mean age of 36.27 ± 2.68 years with 68% women and 32% men. The median age at diagnosis was 34 years (range, 17-55 years). The primary tumor was located in the chest (n = 12/22; 55%), head and neck (n = 9/22; 40%), and 1 patient had a renal tumor. About 68% (n = 15/22) patients presented with regional lymph nodal involvement and 77% (n = 17/22) had distant metastases. All the bone metastases were lytic (100%) with mixed lytic and sclerotic metastases in 5 patients. Only 18% (n = 4/22) of the patients showed response to treatment, with progression in the remaining 18 patients. The median OS was 7 months. The OS was significantly (P = 0.024) more in patients with primary head and neck NC (n = 9; OS, 16 months) versus those with pulmonary and other locations (n = 13; OS, 6 months). CONCLUSIONS: Nuclear protein of the testis carcinoma is an aggressive disease refractory to conventional therapy. Imaging with the complementary use of computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography is important for staging, guiding management, assessing the treatment response, and surveillance.
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Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/secundario , Carcinoma/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias Renales/diagnóstico por imagen , Proteínas de Neoplasias/metabolismo , Proteínas Nucleares/metabolismo , Adolescente , Adulto , Neoplasias Óseas/metabolismo , Neoplasias Óseas/mortalidad , Carcinoma/metabolismo , Carcinoma/mortalidad , Femenino , Neoplasias de Cabeza y Cuello/metabolismo , Neoplasias de Cabeza y Cuello/mortalidad , Humanos , Neoplasias Renales/metabolismo , Neoplasias Renales/mortalidad , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía de Emisión de Positrones , Pronóstico , Estudios Retrospectivos , Análisis de Supervivencia , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
CONTEXT.: RNA-based next-generation sequencing (NGS) assays are being used with increasing frequency for comprehensive molecular profiling of solid tumors. OBJECTIVE.: To evaluate factors that might impact clinical assay performance. DESIGN.: A 4-month retrospective review of cases analyzed by a targeted RNA-based NGS assay to detect fusions was performed. RNA extraction was performed from formalin-fixed, paraffin-embedded tissue sections and/or cytology smears of 767 cases, including 493 in-house and 274 outside referral cases. The types of samples included 422 core needle biopsy specimens (55%), 268 resection specimens (35%), and 77 cytology samples (10%). RESULTS.: Successful NGS fusion testing was achieved in 697 specimens (90.9%) and correlated positively with RNA yield (P < .001) and negatively with specimen necrosis (P = .002), decalcification (P < .001), and paraffin block age of more than 2 years (P = .001). Of the 697 cases that were successfully sequenced, 50 (7.2%) had clinically relevant fusions. The testing success rates and fusion detection rates were similar between core needle biopsy and cytology samples. In contrast, RNA fusion testing was often less successful using resection specimens (P = .007). Testing success was independent of the tumor percentage in the specimen, given that at least 20% tumor cellularity was present. CONCLUSIONS.: The success of RNA-based NGS testing is multifactorial and is influenced by RNA quality and quantity. Identification of preanalytical factors affecting RNA quality and yield can improve NGS testing success rates.
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Biomarcadores de Tumor/genética , Perfilación de la Expresión Génica , Fusión Génica , Secuenciación de Nucleótidos de Alto Rendimiento , Neoplasias/genética , ARN Neoplásico/genética , Análisis de Secuencia de ARN , Transcriptoma , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Niño , Bases de Datos Factuales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/patología , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: The use of RNA-based next-generation sequencing (NGS) assays to detect gene fusions for targeted therapy has rapidly become an essential component of comprehensive molecular profiling. For cytology specimens, the cell block (CB) is most commonly used for fusion testing; however, insufficient cellularity and/or suboptimal RNA quality are often limiting factors. In the current study, the authors evaluated the factors affecting RNA fusion testing in cytology and the added value of smears in cases with a suboptimal or inadequate CB. METHODS: A 12-month retrospective review was performed to identify cytology cases that were evaluated by a targeted RNA-based NGS assay. Samples were sequenced by targeted amplicon-based NGS for 51 clinically relevant genes on a proprietary platform. Preanalytic factors and NGS quality parameters were correlated with the results of RNA fusion testing. RESULTS: The overall success rate of RNA fusion testing was 92%. Of the 146 cases successfully sequenced, 14% had a clinically relevant fusion detected. NGS testing success positively correlated with RNA yield (P = .03) but was independent of the tumor fraction, the tumor size, or the number of slides used for extraction. CB preparations were adequate for testing in 45% cases, but the inclusion of direct smears increased the adequacy rate to 92%. There was no significant difference in testing success rates between smears and CB preparations. CONCLUSIONS: The success of RNA-based NGS fusion testing depends on the quality and quantity of RNA extracted. The use of direct smears significantly improves the adequacy of cytologic samples for RNA fusion testing for predictive biomarkers.
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Biomarcadores de Tumor/genética , Citodiagnóstico/métodos , Técnicas Citológicas/métodos , Fusión Génica , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Neoplasias/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/genética , Estudios RetrospectivosRESUMEN
Acral lentiginous melanoma (ALM) is a rare tumor that occurs on non-sun exposed skin areas of the hands and feet. Reports suggest that ALM exhibits poor prognosis, although mechanisms driving this remain poorly understood. Alterations in TERT and the Wnt/ß-catenin (Wnt) pathway have been suggested to correlate with prognosis of ALM. Thus, immunohistochemical expression of ß-catenin and LEF1 along with TERT amplification by FISH was investigated in 34 primary ALMs, 20 metastatic ALMs, 10 primary non-ALMs, and 15 acral nevi. Foot/toe was the most common primary tumor location (85%) for ALM. TERT amplification was detected in 6 of 28 (21.4%) primary ALM, 2 of 8 (25%) primary non-ALM, and 8 of 18 (44.4%) metastatic ALM, the latter showing significantly higher frequency compared with primary melanomas (P = 0.043). Most metastatic ALMs positive for TERT amplification lacked BRAF V600E (87.5%). Cytoplasmic and nonnuclear expression of ß-catenin was variably detected in all cases. Metastatic ALM revealed lower expression of ß-catenin compared with primary ALM (P = 0.017). No differences in LEF1 expression were detected among the groups; however, acral nevi showed decreased labeling with dermal descent, in contrast to melanoma. No molecular-genetic alteration correlated with prognosis. TERT amplification by FISH is a frequent finding in primary ALM and appears to increase in metastatic tumors, suggesting a role in tumor progression to metastasis. Although TERT amplification has been reported to be infrequent in primary non-ALM, it showed comparable frequency with ALM in our series. Our immunohistochemical findings are not fully supportive of activation of either canonical or noncanonical Wnt cascades in ALM. TERT amplification by FISH and LEF1 immunohistochemistry may help in the differential diagnosis between primary ALM and acral nevus. TERT amplification appears to be a promising target for therapy in patients with metastatic ALM.
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Biomarcadores de Tumor/análisis , Melanoma/patología , Neoplasias Cutáneas/patología , Telomerasa/genética , Anciano , Progresión de la Enfermedad , Femenino , Pie/patología , Amplificación de Genes , Mano/patología , Humanos , Masculino , Melanoma/genética , Melanoma/metabolismo , Persona de Mediana Edad , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Vía de Señalización Wnt/fisiología , Melanoma Cutáneo MalignoRESUMEN
Pancreatic ductal adenocarcinoma (PDAC) is a genetically heterogeneous, biologically aggressive malignancy with a uniformly poor prognosis. While most pancreatic cancers arise sporadically, a small subset of PDACs develop in patients with hereditary and familial predisposition. Detailed studies of the rare hereditary syndromes have led to identification of specific genetic abnormalities that contribute to malignancy. For example, germline mutations involving BRCA1, BRCA2, PRSS1, and mismatch repair genes predispose patients to PDAC. While patients with Lynch syndrome develop a rare "medullary" variant of adenocarcinoma, intraductal papillary mucinous tumors are observed in patients with McCune-Albright syndrome. It is now well established that PDACs originate via a multistep progression from microscopic and macroscopic precursors due to cumulative genetic abnormalities. Improved knowledge of tumor genetics and oncologic pathways has contributed to a better understanding of tumor biology with attendant implications on diagnosis, management, and prognosis. In this article, the genetic landscape of PDAC and its precursors will be described, the hereditary syndromes that predispose to PDAC will be reviewed, and the current role of imaging in screening and staging assessment, as well as the potential role of molecular tumor-targeted imaging for evaluation of patients with PDAC and its precursors, will be discussed. Keywords: Abdomen/GI, Genetic Defects, Oncology, Pancreas Supplemental material is available for this article. © RSNA, 2020.
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Adenocarcinoma , Carcinoma Ductal Pancreático , Neoplasias Pancreáticas , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/genética , Carcinoma Ductal Pancreático/diagnóstico por imagen , Carcinoma Ductal Pancreático/genética , Predisposición Genética a la Enfermedad , Humanos , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/genéticaRESUMEN
The spectrum of adrenal masses in the pediatric population markedly differs from that in the adult population. Imaging plays a crucial role in detecting adrenal masses, differentiating malignant from benign lesions, recognizing extra-adrenal lesions in the suprarenal fossa, and directing further management. Ultrasound is the primary imaging modality of choice for the evaluation of adrenal masses in the neonatal period, whereas MRI or CT is used as a problem-solving tool. In older children, computed tomography or magnetic resonance imaging is often required after initial sonographic evaluation for further characterization of a lesion. Herein, we discuss the salient imaging features along with pathophysiology and clinical features of pediatric adrenal masses.