RESUMEN
Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis that preferentially involves long bones but can affect a variety of other organs. Initial presentation with extraskeletal involvement is not unusual and is most commonly observed in the central nervous system, heart, retroperitoneum, lungs, and skin. Initial presentation of the disease as a subcutaneous soft tissue mass is exceedingly rare and may pose difficulties for diagnosis. We describe a case of Erdheim-Chester disease that initially presented as a cutaneous and subcutaneous soft tissue mass in the right posterior shoulder of a 52-year-old man.
Asunto(s)
Enfermedad de Erdheim-Chester , Enfermedad de Erdheim-Chester/patología , Humanos , Masculino , Persona de Mediana Edad , Piel/patología , Enfermedades de la Piel/patologíaRESUMEN
Crystal-storing histiocytosis (CSH) is a rare condition in which crystals accumulate in the cytoplasm of histiocytes and is usually associated with a lymphoplasmacytic neoplasm. Cutaneous CSH is extraordinarily rare and limited to case reports in the literature. We report two cases of this disease with cutaneous involvement. Case 1 was a 65-year-old male with a 4-month history of a pruritic eruption that started as a solitary pink to skin-colored indurated plaque on the anterior neck before progressing to involve the whole neck, chest wall, and face. Case 2 was a 54-year-old woman with a history of unspecified "lymphoma" who presented with a soft nodule on the forearm. Biopsies from both cases had similar findings and showed a proliferation of epithelioid cells with pink cytoplasm and intracellular crystalline structures infiltrating the dermis and subcutaneous fat. In the first case, the cells were positive for CD43, CD45, CD68, and IgG kappa, and in the second case, the crystals were positive for IgG lambda. Based on these findings, the patients were diagnosed with cutaneous CSH. We highlight this rare diagnosis and the importance of investigating an underlying lymphoplasmacytic neoplasm.
Asunto(s)
Histiocitosis , Humanos , Anciano , Masculino , Femenino , Histiocitosis/patología , Histiocitosis/metabolismo , Persona de Mediana Edad , Histiocitos/patología , Histiocitos/metabolismo , Cristalización , Enfermedades de la Piel/patología , Enfermedades de la Piel/metabolismoRESUMEN
Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by aberrant fragmentation and calcification of elastic fibers, leading to characteristic cutaneous, ophthalmic, and cardiovascular manifestations. PXE demonstrates significant phenotypic variability; involvement of the oral mucosa may be the only clue to the diagnosis. Reports on mucous membrane involvement in PXE are scarce. Here, we present a case of PXE-like changes in the oral cavity. A 70-year-old male patient presented with a painless leukoplakic lesion on the soft palate. Biopsy revealed numerous degenerated fibers in the lamina propria. Verhoeff-van Gieson and von Kossa staining confirmed their identity as calcified elastic fibers. A histopathological diagnosis of PXE-like changes was made; the patient was referred to ophthalmology where angioid streaks were visualized fundoscopically. PXE-like changes in the absence of the characteristic genetic mutation have also been reported with or without systemic manifestations. Furthermore, PXE-like changes have been reported in up to 10% of oral biopsy specimens undertaken without clinical suspicion for PXE. Therefore, the significance of such changes in isolation is unclear. Clinicians and pathologists should be aware of the potential oral manifestations of PXE to facilitate prompt diagnosis and subspecialist referral.
Asunto(s)
Seudoxantoma Elástico , Masculino , Humanos , Anciano , Seudoxantoma Elástico/diagnóstico , Seudoxantoma Elástico/patología , Piel/patología , Tejido Elástico/patología , Paladar Blando/patología , MutaciónRESUMEN
BACKGROUND: Low-grade fibromyxoid sarcoma (LGFMS) typically involves deep soft tissue (beneath the fascia) of the proximal extremities and trunk. Long-term follow-up has shown a high rate of local recurrence, metastasis, and death. To the best of our knowledge, there is only one previous large series focusing on superficial LGFMS suggesting superficial tumors are disproportionately more common in children and may have a better prognosis. Our study's primary goals are to confirm these findings and increase general awareness that LGFMS may arise in superficial soft tissue. METHODS: We retrieved our cases of superficial LGFMS diagnosed between 2008 and 2020. Available slides were reviewed, and clinical data and follow-up information were obtained. RESULTS: The patients included nine males and 14 females with a median age of 29 years; eight (35%) were children (<18 years) and five (22%) were young adults (18-30 years). The majority involved the lower extremities (65%). The tumors were primarily centered in the subcutis (91%) and dermis (9%). Microscopically, they had typical features of LGFMS with alternating fibrous and myxoid zones composed of bland, slightly hyperchromatic spindled cells. All were positive for MUC4 by immunohistochemistry and/or FUS rearrangement by FISH. Follow-up on 14 cases ranged from 11 to 148 months (median 61 months) with no evidence of recurrences or distant metastases. CONCLUSIONS: Compared to conventional deep-seated counterparts, superficial LGFMS is more likely to occur in the extremities of children and young adults and may have a better clinical outcome. Further studies with longer follow-up will likely help support these findings.
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Fibrosarcoma , Neoplasias de los Tejidos Blandos , Masculino , Femenino , Humanos , Neoplasias de los Tejidos Blandos/patología , Fibrosarcoma/patología , InmunohistoquímicaRESUMEN
BACKGROUND: Spitzoid melanocytic neoplasms are diagnostically challenging; criteria for malignancy continue to evolve. The ability to predict chromosomal abnormalities with immunohistochemistry (IHC) could help select cases requiring chromosomal evaluation. METHODS: Fluorescence in situ hybridization (FISH)-tested spitzoid neoplasms at our institution (2013-2021) were reviewed. p16, BRAF V600E, and preferentially expressed antigen in melanoma (PRAME) IHC results were correlated with FISH. RESULTS: A total of 174 cases (1.9F:1M, median age 28 years; range, 5 months-74 years) were included; final diagnoses: Spitz nevus (11%), atypical Spitz tumor (47%), spitzoid dysplastic nevus (9%), and spitzoid melanoma (32%). Sixty (34%) were FISH positive, most commonly with absolute 6p25 gain (RREB1 > 2). Dermal mitotic count was the only clinicopathologic predictor of FISH. Among IHC-stained cases, p16 was lost in 55 of 134 cases (41%); loss correlated with FISH positive (p < 0.001, Fisher exact test). BRAF V600E (14/88, 16%) and PRAME (15/56, 27%) expression did not correlate with FISH alone (p = 0.242 and p = 0.359, respectively, Fisher exact test). When examined together, however, p16-retained/BRAF V600E-negative lesions had low FISH-positive rates (5/37, 14%; 4/37, 11% not counting isolated MYB loss); all other marker combinations had high rates (56%-75% of cases; p < 0.001). CONCLUSIONS: p16/BRAF V600E IHC predicts FISH results. "Low-risk" lesions (p16+ /BRAF V600E- ) uncommonly have meaningful FISH abnormalities (11%). PRAME may have limited utility in this setting.
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Melanoma , Nevo de Células Epitelioides y Fusiformes , Neoplasias Cutáneas , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Hibridación Fluorescente in Situ , Melanoma/diagnóstico , Melanoma/genética , Melanoma/metabolismo , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Aberraciones Cromosómicas , Nevo de Células Epitelioides y Fusiformes/diagnóstico , Nevo de Células Epitelioides y Fusiformes/genética , Diagnóstico Diferencial , Antígenos de NeoplasiasRESUMEN
Acral melanocytic neoplasms often pose diagnostic difficulty. Preferentially expressed antigen in melanoma (PRAME) expression and loss of p16 expression have diagnostic utility in melanocytic tumors. We examined PRAME and p16 expression in 30 acral melanocytic neoplasms (n = 11 nevi; n = 2 dysplastic nevi; n = 7 Spitz nevi; n = 10 acral melanomas). PRAME was scored as % positive nuclei: negative = 0%; 1% to 25% = 1+; 25% to 50% = 2+; 50% to 75% = 3+, or positive: 75% to 100% = 4+. p16 expression was defined as retained (homogeneous or checkerboard) or lost (complete or partial/regionally). PRAME expression was negative in all benign, dysplastic, and Spitz nevi. Conversely, all acral melanomas were diffusely (4+) positive for PRAME expression. p16 expression was retained in all benign acral nevi (8/11 homogeneous, 3/11 checkerboard), completely lost in one dysplastic nevus, and retained in all acral Spitz nevi (3/7 homogeneous, 4/7 checkerboard). p16 was retained in five of 10 acral melanomas (3/10 homogeneous; 2/10 checkerboard), and negative in five of 10 acral melanomas (absent in 3/10, partially lost in 2/10). Our data suggest that 4+ PRAME expression is highly sensitive and specific in the setting of acral melanomas and is a more predictive diagnostic tool compared with p16 immunohistochemistry.
Asunto(s)
Antígenos de Neoplasias/metabolismo , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Melanoma/metabolismo , Nevo/metabolismo , Neoplasias Cutáneas/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/metabolismo , Niño , Preescolar , Femenino , Humanos , Masculino , Melanoma/patología , Persona de Mediana Edad , Nevo/patología , Neoplasias Cutáneas/patología , Adulto JovenRESUMEN
ABSTRACT: An unusual benign skin tumor is reported occurring in a 68-year-old woman with no significant medical history. The lesion presented as a small skin nodule in the neck. Histologic examination showed a well-circumscribed superficial dermal nodule composed of a solid proliferation of large, round cells with abundant eosinophilic cytoplasm and small centrally placed nuclei displaying a vaguely chondroid appearance. Immunohistochemical studies showed strong positivity of the tumor cells for S100 protein and vimentin and negative staining for SOX10, melanoma cocktail, HMB45, Melan-A, cytokeratin AE1/AE3, inhibin, desmin, smooth muscle actin, CD68, CD164, and neuron specific enolase. Next-generation sequencing using a panel of 50 actionable genes commonly encountered in human neoplasia did not reveal the presence of any mutations. Owing to the remarkable similarity of the lesion to immature cartilage, we consider this to be a benign tumor, most likely resulting from an embryologic defect. We propose the term immature chondroid choristoma to designate this lesion.
Asunto(s)
Coristoma/patología , Neoplasias Cutáneas/patología , Anciano , Femenino , Humanos , CuelloRESUMEN
ABSTRACT: An unusual benign skin lesion is reported in a 19-year-old man with no significant medical history. The lesion had been present since he was an infant and had been slowly enlarging over the past 15 years. The lesion caused pain and discomfort, and the patient underwent an excisional biopsy. Histologic examination showed a subcutaneous lesion with ill-defined borders and peripheral areas of infiltration between adnexal structures. The lesion was composed of small round to ovoid cells embedded in a collagenous stroma with prominent cystic pseudovascular appearing channels causing a pseudopapillary or lymphangitic appearance that mimicked a vascular neoplasm. Immunohistochemistry performed showed positive staining for EMA, progesterone receptor, D2-40, and vimentin within the lesional cells. The tumor cells were negative for cytokeratin AE1/AE3, CD34, CD31, HHV-8, STAT6, SMA, Desmin, S-100, Melan A, and HMB45. A next-generation sequencing study using a hybrid capture-based panel examining 50 commonly mutated genes in human neoplasia was performed and showed no molecular alterations suggesting a nonneoplastic nature. Based on the clinical presentation, histologic features, and results of ancillary studies, the case was diagnosed as a hamartoma of the scalp with meningothelial-like elements. Reported cases of this lesion have behaved in a benign manner; however, as the histologic differential includes low-grade malignant vascular neoplasms such as angiosarcoma, it is important to recognize the salient features of this lesion.
Asunto(s)
Hamartoma , Hemangiosarcoma , Neoplasias Vasculares , Adulto , Diagnóstico Diferencial , Hamartoma/patología , Hemangiosarcoma/patología , Humanos , Inmunohistoquímica , Masculino , Cuero Cabelludo/patología , Neoplasias Vasculares/patología , Adulto JovenRESUMEN
Langerhans cell sarcoma (LCS) is rare and aggressive; patients have an overall survival rate of less than 50%. We present a 62-year-old man with a history of superficial spreading melanoma of the upper back with sentinel lymph node metastasis, Langerhans cell histiocytosis, and LCS. The patient presented with erythematous papules and scaly areas on his face, neck, arms, chest, abdomen, and legs. A skin biopsy revealed a proliferation of large neoplastic cells involving the dermis and with epidermotropism. These cells had atypical bean-shaped nuclei, with ample cytoplasm and abundant mitotic figures including atypical forms. Immunohistochemical studies showed the tumor to be diffusely positive for CD1a, S100 protein, and langerin (CD207) and negative for melanocytic markers. Some tumor cells were positive for cyclin D1. A diagnosis of LCS involving the skin was established. The present study is a very unusual case of LCS showing epidermotropism. The patient's history of metastatic melanoma posed additional challenges for diagnosis, underlying the need of immunophenotyping in these cases. Consensus for optimal standard therapy has not been established in LCS, and thus, early recognition is important since these neoplasms tend to recur and metastasize. LCS in skin is discussed and published cases are comprehensively reviewed.
Asunto(s)
Sarcoma de Células de Langerhans/diagnóstico , Sarcoma de Células de Langerhans/metabolismo , Melanoma/diagnóstico , Piel/patología , Adolescente , Adulto , Cuidados Posteriores , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica/métodos , Lactante , Sarcoma de Células de Langerhans/tratamiento farmacológico , Masculino , Melanoma/patología , Persona de Mediana Edad , Recurrencia , Proteínas S100/metabolismo , Resultado del Tratamiento , Adulto JovenRESUMEN
Cutaneous carcinosarcomas are rare biphenotypic tumors that simultaneously show epithelial and mesenchymal differentiation. The most common carcinomatous components in skin carcinosarcomas are basal cell carcinoma and squamous cell carcinoma; adnexal carcinomas are rarely encountered. We report a case of an adnexal carcinoma with ductal and squamous differentiation and spindle cell component, which is interpreted as carcinosarcoma. Loss of immunohistochemical expression of E-cadherin and ß-catenin detected in the sarcomatous component suggested epithelial mesenchymal transition (EMT). RNA sequencing analysis identified several gene mutations and alterations such as translocations and upregulations/downregulations, either shared by the two components of the tumor or differentially present in the carcinoma or the sarcoma parts. Thus, mutations in genes, such as TP53, were found in both components of the tumor while mutations in PDGFRA and RB1 (a pathogenic missense mutation) were exclusively present in the sarcomatous areas, further supporting EMT. EMT is a dynamic process by which tumors acquire mesenchymal phenotype while simultaneously losing epithelial properties. Although the pathways involved in EMT have been extensively studied, this phenomenon still needs to be investigated in cutaneous tumors of adnexal origin for a better understanding of their pathogenesis. These molecular changes may represent promising targets for personalized therapies.
Asunto(s)
Carcinosarcoma/diagnóstico , Transición Epitelial-Mesenquimal/genética , Neoplasias de Anexos y Apéndices de Piel/patología , Neoplasias Cutáneas/patología , Adulto , Anciano , Anciano de 80 o más Años , Cadherinas/metabolismo , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/ultraestructura , Carcinosarcoma/genética , Carcinosarcoma/radioterapia , Carcinosarcoma/cirugía , Femenino , Genes p53/genética , Humanos , Inmunohistoquímica/métodos , Masculino , Persona de Mediana Edad , Mutación , Recurrencia Local de Neoplasia/secundario , Análisis de Secuencia de ARN/métodos , Vimentina/metabolismoRESUMEN
ABSTRACT: Cutaneous metastasis may be the initial sign of internal malignancy but more often represents a late manifestation of widely disseminated disease. Breast carcinoma is the most common malignancy to metastasize to the skin. Although several studies have detailed the histopathologic patterns of cutaneous metastasis from internal malignancies, very little has been published regarding metastases of breast carcinoma to the skin. Furthermore, the histopathologic and clinical features observed in the cases of breast carcinoma with local skin involvement as opposed to cases exhibiting distant cutaneous metastases have not been adequately investigated. We have reviewed 232 cases of breast carcinoma with cutaneous metastases from 2 large institutions. All cases of carcinoma of the breast with involvement of the skin of the anterior chest wall were compared with those with distant cutaneous metastases. Two hundred thirty-two cases in 199 patients were included, of which 126 had skin involvement exclusively involving the ipsilateral anterior chest, and 106 had biopsy-proven distant cutaneous metastases. Twelve patients had both local and distal spread. Distant cutaneous metastases showed a predilection for the contralateral anterior chest wall area, followed by the head and neck, back, and abdomen. Histologically, most of the tumors presented in this series showed features of infiltrating ductal carcinoma. In both ipsilateral and distant metastases, the tumors demonstrated little change in histologic features from the primary lesion; however, the distant metastases showed a tendency to display more poorly differentiated features. The mean patient survival when cutaneous involvement was localized to the skin of the anterior chest wall was 23 months as compared with 20.6 months when distant sites were affected. A comparison of the clinicopathologic features of the patients presented in this series suggests that alternate biological mechanisms may apply for local and distant skin metastases from breast carcinoma.
Asunto(s)
Neoplasias de la Mama/patología , Carcinoma/secundario , Neoplasias Cutáneas/secundario , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Nontuberculous mycobacteria are pathogens with diverse manifestations in immunocompromised hosts. The lesser-known Mycobacterium haemophilum usually causes cutaneous infection. Diagnosis is challenging but is aided by molecular testing and multidisciplinary communication. We present an immunocompromised patient with disseminated cutaneous mycobacterial infection with digital tenosynovitis.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Infecciones por Mycobacterium no Tuberculosas/patología , Complicaciones Posoperatorias/patología , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Lower respiratory tract infections, including hospital-acquired and ventilator-associated pneumonia, are common in hospitalized patient populations. Standard methods frequently fail to identify the infectious etiology due to the polymicrobial nature of respiratory specimens and the necessity of ordering specific tests to identify viral agents. The potential severity of these infections combined with a failure to clearly identify the causative pathogen results in administration of empirical antibiotic agents based on clinical presentation and other risk factors. We examined the impact of the multiplexed, semiquantitative BioFire FilmArray Pneumonia panel (PN panel) test on laboratory reporting for 259 adult inpatients submitting bronchoalveolar lavage (BAL) specimens for laboratory analysis. The PN panel demonstrated a combined 96.2% positive percent agreement (PPA) and 98.1% negative percent agreement (NPA) for the qualitative identification of 15 bacterial targets compared to routine bacterial culture. Semiquantitative values reported by the PN panel were frequently higher than values reported by culture, resulting in semiquantitative agreement (within the same log10 value) of 43.6% between the PN panel and culture; however, all bacterial targets reported as >105 CFU/ml in culture were reported as ≥105 genomic copies/ml by the PN panel. Viral targets were identified by the PN panel in 17.7% of specimens tested, of which 39.1% were detected in conjunction with a bacterial target. A review of patient medical records, including clinically prescribed antibiotics, revealed the potential for antibiotic adjustment in 70.7% of patients based on the PN panel result, including discontinuation or de-escalation in 48.2% of patients, resulting in an average savings of 6.2 antibiotic days/patient.
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Programas de Optimización del Uso de los Antimicrobianos , Neumonía , Infecciones del Sistema Respiratorio , Adulto , Humanos , Técnicas de Diagnóstico Molecular , Reacción en Cadena de la Polimerasa Multiplex , Infecciones del Sistema Respiratorio/diagnóstico , Infecciones del Sistema Respiratorio/tratamiento farmacológicoRESUMEN
The ability to provide timely identification of the causative agents of lower respiratory tract infections can promote better patient outcomes and support antimicrobial stewardship efforts. Current diagnostic testing options include culture, molecular testing, and antigen detection. These methods may require collection of various specimens, involve extensive sample treatment, and can suffer from low sensitivity and long turnaround times. This study assessed the performance of the BioFire FilmArray Pneumonia Panel (PN panel) and Pneumonia Plus Panel (PNplus panel), an FDA-cleared sample-to-answer assay that enables the detection of viruses, atypical bacteria, bacteria, and antimicrobial resistance marker genes from lower respiratory tract specimens (sputum and bronchoalveolar lavage [BAL] fluid). Semiquantitative results are also provided for the bacterial targets. This paper describes selected analytical and clinical studies that were conducted to evaluate performance of the panel for regulatory clearance. Prospectively collected respiratory specimens (846 BAL and 836 sputum specimens) evaluated with the PN panel were also tested by quantitative reference culture and molecular methods for comparison. The PN panel showed a sensitivity of 100% for 15/22 etiologic targets using BAL specimens and for 10/24 using sputum specimens. All other targets had sensitivities of ≥75% or were unable to be calculated due to low prevalence in the study population. Specificity for all targets was ≥87.2%, with many false-positive results compared to culture that were confirmed by alternative molecular methods. Appropriate adoption of this test could provide actionable diagnostic information that is anticipated to impact patient care and antimicrobial stewardship decisions.
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Neumonía , Infecciones del Sistema Respiratorio , Virus , Humanos , Técnicas de Diagnóstico Molecular , Reacción en Cadena de la Polimerasa Multiplex , Infecciones del Sistema Respiratorio/diagnóstico , Sensibilidad y Especificidad , Virus/genéticaRESUMEN
Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade soft tissue neoplasm preferentially arising in the extremities of young to middle-aged adults characterized histologically by a variegated appearance and absence of a distinctive immunophenotype. Herein we have evaluated a series of 73 cases of MIFS to define potential features and markers that may facilitate diagnosis. An immunohistochemical study with a large panel of antibodies showed strong positivity of the tumor cells for bcl-1 (94.5%), FXIIIa (89%), CD10 (80%), and D2-40 (56%). FISH and array comparative genomic hybridization (aCGH) were performed in a large subset of cases to investigate the utility for detecting the TGFBR3 and OGA t(1;10) rearrangement and BRAF abnormalities. Using a combination of FISH and/or aCGH, t(1;10) was detected in only 3 of 54 cases (5.5%). The aCGH study also demonstrated amplification of VGLL3 on chromosome 3 that was detected in 8 of 20 cases (40%). BRAF alterations were observed by FISH in 4 of 70 cases (5.7%) and correlated with gain of chromosome 3p12 (VGLL3). A novel fusion transcript involving exon 6 of ZNF335 and exon 10 of BRAF was identified in one case. Demonstration of amplification of VGLL3 on chromosome 3 in combination with expression of bcl-1 and FXIIIa may help support the diagnosis, however, due to their low specificity these markers are not sufficient for a definitive diagnosis in the absence of the appropriate clinical-pathological context. Until a more robust genetic or immunohistochemical signature is identified, the diagnosis of MIFS rests on its characteristic clinicopathological features.
Asunto(s)
Biomarcadores de Tumor , Fibroblastos/química , Fibrosarcoma/química , Fibrosarcoma/genética , Inmunohistoquímica , Técnicas de Diagnóstico Molecular , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/genética , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Hibridación Genómica Comparativa , Europa (Continente) , Femenino , Fibroblastos/patología , Fibrosarcoma/patología , Amplificación de Genes , Fusión Génica , Reordenamiento Génico , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Fenotipo , Neoplasias de los Tejidos Blandos/patología , Translocación Genética , Estados Unidos , Adulto JovenRESUMEN
It is well known to pathologists that melanoma is "the great mimicker," looking like almost any other tumor, and able to metastasize anywhere in the body. We report a case of a 48-year-old female with a history of metastatic melanoma 4 years before, who presented with a hepatic mass. Microscopic examination of the liver mass revealed sheets of pleomorphic, epithelioid cells, which expressed a pan-melanocytic cocktail (MART1, HMB45, and tyrosinase). These findings were initially interpreted as metastatic melanoma and the case was transferred for dermatopathology consultation. We compared the morphology of this tumor to the primary melanoma and noticed that the primary melanoma showed nevoid cytology, morphologically distinct from the liver lesion. Consequently, we performed additional immunohistochemical studies, which determined that the liver mass was negative for S100 and SOX10, and established a final diagnosis of epithelioid angiomyolipoma. The key for reaching the correct diagnosis was the morphologic comparison with the original lesion and the evaluation of a wider immunohistochemical profile. For appropriate management in patients with new lesions, even in the context of a patient with known metastatic disease, it is essential to consider other neoplasms in the differential diagnosis.
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Angiomiolipoma/diagnóstico , Células Epitelioides/patología , Neoplasias Hepáticas/patología , Melanoma/secundario , Diagnóstico Diferencial , Células Epitelioides/metabolismo , Femenino , Humanos , Neoplasias Hepáticas/secundario , Antígeno MART-1/metabolismo , Melanoma/diagnóstico , Antígenos Específicos del Melanoma/metabolismo , Persona de Mediana Edad , Monofenol Monooxigenasa/metabolismo , Neoplasias Cutáneas/patología , Antígeno gp100 del MelanomaRESUMEN
The presence or absence of metastasis in sentinel lymph nodes often drives melanoma staging, prognosis, and treatment. However, distinguishing between metastatic melanoma cells and clusters of benign melanocytic nevus cells is not always straightforward. When morphologic hematoxylin and eosin interpretation alone is not sufficient, additional hematoxylin and eosin sections and immunohistochemical (IHC) studies may be beneficial. This review and small cases series of 3 diagnostically challenging melanocytic sentinel lymph node cases highlights the IHC approach to evaluate intraparenchymal nodal melanocytic nevi, coexistent metastatic melanoma with adjacent melanocytic nevi cells, and nodal blue nevi. In challenging cases, cytological morphology of the melanocytes, location within the lymph node, and IHC studies may assist in diagnosis. If these tools yield conflicting results, expert opinion is recommended.
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Melanoma/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Nevo Pigmentado/diagnóstico , Ganglio Linfático Centinela/patología , Neoplasias Cutáneas/patología , Anciano , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Antígeno Ki-67/metabolismo , Metástasis Linfática/diagnóstico , Metástasis Linfática/patología , Antígeno MART-1/metabolismo , Masculino , Melanocitos/metabolismo , Melanocitos/patología , Melanoma/metabolismo , Melanoma/patología , Melanoma/secundario , Antígenos Específicos del Melanoma/metabolismo , Persona de Mediana Edad , Neoplasias Primarias Múltiples/patología , Nevo Pigmentado/metabolismo , Nevo Pigmentado/patología , Factores de Transcripción SOXE/metabolismo , Ganglio Linfático Centinela/metabolismo , Antígeno gp100 del MelanomaRESUMEN
The tumors involving the parotid gland are mainly primary, with metastatic lesions comprising only 5% of malignant salivary gland neoplasms. We are presenting a rare case of metastatic meningioma to the parotid in a 51-year-old male with a past medical history of recurrent atypical meningioma involving the frontal lobe. For the past 1.5 years, routine imaging showed parotid lesions with interval growth including a 2.0 cm dominant tender preauricular parotid mass. The chronicity and the number of lesions made malignancy unlikely. The differential diagnosis included non-specific lesions such as intraparotid lymph nodes and benign neoplasms. Fine needle aspiration of the parotid mass was performed to show loosely cohesive fragments and singly scattered neoplastic cells with mild nuclear pleomorphism and oncocytic cytoplasm. The main cytomorphologic differential diagnosis included oncocytic and myoepithelial-rich tumors. The neoplastic cells were immunoreactive to p63, calponin and SSTR2A and were negative for cytokeratins, progesterone receptor, S100, DOG-1, EMA, synaptophysin, and chromogranin. The cytology slides and the parotid gland mass resection were compared to the previous meningioma resection specimen which showed a similar morphology of the oncocytic tumor cells in some areas. The overall morphologic and immunohistochemical findings of the parotid tumor were consistent with metastatic meningioma. Extracranial metastases from intracranial tumors are extremely rare. Meningiomas arise from the dura matter, constitute 15% of primary brain tumors, and metastasize at an estimated rate of 0.1%. Despite how uncommon metastatic meningioma is, our case emphasizes the critical role of clinical history when evaluating parotid gland lesions.
Asunto(s)
Neoplasias Meníngeas/patología , Meningioma/secundario , Neoplasias de la Parótida/secundario , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: The full-blown lesion of granuloma annulare (GA) is characterized by necrobiotic granulomas with palisading of histiocytes and stromal mucin deposition. Cases in which the granulomatous features are not fully developed have been described as the "interstitial" variant; however, there is no good definition regarding their criteria for diagnosis. METHODS: We conducted a retrospective study of 97 cases of GA. RESULTS: Cases of interstitial GA (69) were paucicellular with scant to no mucin, with only a few scattered mononuclear cells but lacking well-formed granulomas with multinucleated giant cells. Immunohistochemical study showed that the cells in conventional cases of GA stained strongly positive for CD68 and CD163, whereas the small mononuclear cells in interstitial GA were strongly positive only for CD163. CONCLUSIONS: Interstitial GA differs from the classical GA in several respects, including morphology and immunophenotype. Use of antibodies to CD163 may be helpful for distinguishing the interstitial variant from other conditions. Recognition of the interstitial variant is of importance to explain the presence of lesions that clinically are suspicious for GA but histologically do not resemble the conventional form of the disease.
Asunto(s)
Antígenos CD/metabolismo , Antígenos de Diferenciación Mielomonocítica/metabolismo , Granuloma Anular , Mucinas/metabolismo , Receptores de Superficie Celular/metabolismo , Adolescente , Adulto , Anciano , Niño , Femenino , Granuloma Anular/metabolismo , Granuloma Anular/patología , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Post-radiation vascular lesions are a rare complication most commonly seen in patients previously treated for breast cancer. The main two entities include angiosarcoma (AS), which are malignant tumors that have a poor prognosis, and atypical vascular lesions (AVL), which typically behave in a benign manner and only rarely progress to angiosarcoma. The overall incidence of these lesions is low, but it appears to be increasing. Histopathologic distinction of AVL and AS is essential due to different clinical outcomes and treatment. However, due to the occasional existence of overlapping clinical and histopathologic features, it may be sometimes difficult to render a definite diagnosis, particularly in small biopsies. Ancillary techniques are, in general, of little help for separating the borderland cases but, in some instances, immunohistochemical study (IHC) for Ki67 and IHC or fluorescence in situ hybridization analysis for MYC may help in the diagnosis of angiosarcoma. Herein we discuss the clinical characteristics, histopathologic features, management strategies, and outcome of these lesions, with special emphasis on their differential diagnosis.