RESUMO
BACKGROUND Langerhans cell histiocytosis (LCH) is a rare condition caused by a neoplastic proliferation of myeloid cells. It can present as a single-system or multi-system disorder. Worse prognosis is associated with the hematopoietic system (spleen, liver, bone marrow), which is routinely observed in multi-system disease. Because of the varied presentation of this disorder, diagnosis can be difficult, and therefore suitable treatment can be delayed. CASE REPORT We report a case of hepatic LCH in a 51-year-old man who presented with epigastric abdominal pain, with imaging demonstrating a hepatic nodule. A low ejection fraction on hepatobiliary iminodiacetic acid scan suggested chronic cholecystitis. Therefore, the patient underwent a cholecystectomy for biliary dyskinesia, in which liver nodules were noted, and biopsies were taken. The biopsies demonstrated characteristic findings of LCH along with positive immunohistochemical markers and negative BRAF V600E mutation. Radiologic and pathologic findings were consistent with LCH within the liver, associated with bile duct injury and mild biliary obstruction. The patient was placed on a cladribine regimen. His abdominal pain improved. CONCLUSIONS LCH limited to the liver is uncommon and can appear as chronic biliary disease, as was suspected in this case. Despite the poor prognosis of hematopoietic LCH, early recognition can lead to better outcome and chemotherapy susceptibility. This patient was most likely in the first stage of liver LCH, given his presentation, which could have aided his response to chemotherapy. The lack of BRAF V600E mutation could have contributed to a positive prognosis and more possibilities for treatment.
Assuntos
Histiocitose de Células de Langerhans , Proteínas Proto-Oncogênicas B-raf , Masculino , Humanos , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas B-raf/genética , Mutação , Histiocitose de Células de Langerhans/diagnóstico , Fígado , Dor AbdominalRESUMO
BACKGROUND: Salivary duct carcinoma (SDC) is an uncommon and highly aggressive primary salivary gland neoplasm. Cytomorphologic features of SDC include cellular smears, nuclear atypia, prominent nucleoli, cribriform and papillary architecture, and background necrosis. The presence of oncocytic features has been described but not adequately characterized in the current literature. METHOD: This study cohort consisted of 14 cases of histologically proven SDC with previous salivary gland fine needle aspiration (FNA). The cytologic material of each case was semi-quantitatively analyzed and evaluated for various cytomorphologic, architectural, and background features. RESULTS: Twelve SDCs were located in the parotid gland and two in the submandibular gland. In two cases the initial cytologic diagnoses was Warthin tumor or favor Warthin tumor. Moderate to marked degree of oncocytic changes were noted in all cases except one case. Nuclear atypia was variable with most cases exhibiting moderate to high-grade nuclear features, while four cases demonstrated low-grade nuclear cytomorphology. Cytoplasmic vacuolation was seen in nine cases and variable amount of background necrosis was observed in eight cases. Cribriform and papillary architecture was recognized in only six cases. Background lymphocytes were absent in all but one case. CONCLUSIONS: Precise diagnosis of SDC based on cytomorphologic features alone can be challenging. Oncocytic change is one of the most consistent features observed in this case series and when associated with less pronounced cytologic atypia, can potentially lead to misdiagnosis as Warthin tumor. SDC should be considered in the differential diagnosis of oncocytic salivary gland neoplasms where precise diagnosis is not possible.
Assuntos
Adenolinfoma/diagnóstico , Carcinoma Ductal/diagnóstico , Neoplasias das Glândulas Salivares/diagnóstico , Adenolinfoma/patologia , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina , Carcinoma Ductal/patologia , Erros de Diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias das Glândulas Salivares/patologiaRESUMO
BACKGROUND: Metastatic paragangliomas are rare neuroendocrine tumors. Bony metastases most commonly occur in the ribs, vertebrae, and pelvis. Few cases of mandibular metastases have been reported. METHODS: A 75-year-old female presented with a 6-month history of an enlarging mandibular mass. A biopsy was consistent with a paraganglioma. RESULTS: Staging workup with 18 F-fluorodeoxyglucose positron emission tomography demonstrated 2 hypermetabolic intra-abdominal lesions adjacent to the inferior vena cava. These were confirmed as paraganglioma by biopsy and presumed as the primary lesions. The patient underwent left segmental mandibulectomy and neck dissection with osteocutaneous fibula free tissue reconstruction. CONCLUSION: A rare case of malignant paraganglioma presenting as a mandibular metastasis is described. Nuclear medicine studies for paraganglioma are reviewed.
Assuntos
Neoplasias Abdominais/patologia , Neoplasias Maxilomandibulares/secundário , Paraganglioma/secundário , Neoplasias Abdominais/diagnóstico por imagem , Idoso , Feminino , Humanos , Neoplasias Maxilomandibulares/patologia , Metástase Linfática , Paraganglioma/patologia , Tomografia por Emissão de PósitronsRESUMO
Urinary tract blastomycosis is an uncommon manifestation of disseminated Blastomyces infection. Here, we report a 50-year-old male with common variable immunodeficiency who presented with urinary symptoms and a renal mass concerning for a kidney neoplasm. Urine cytology revealed typical broad-based budding yeasts with thick-walled refractile capsules, leading to diagnosis of urinary tract blastomycosis. In this case, urine cultures were negative, and urine cytology was the main method of diagnosis of blastomycosis. Thus, urine cytology represents a rapid and reliable method of diagnosing blastomycosis, which in the current case led to prompt treatment of this potentially life threatening infection.
Assuntos
Blastomicose/urina , Infecções Urinárias/urina , Blastomyces/isolamento & purificação , Blastomyces/patogenicidade , Blastomicose/microbiologia , Blastomicose/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Infecções Urinárias/microbiologia , Infecções Urinárias/patologia , Urina/citologia , Urina/microbiologiaRESUMO
Calcitonin-secreting neuroendocrine tumors are rare and have been reported in literature as case reports or case series in various organs including lung, pancreas, larynx, bladder, and ovary. These tumors have similar cytologic features and immunohistochemical profile to medullary thyroid carcinoma and thus it is difficult to distinguish them, especially when calcitonin-secreting neuroendocrine tumors are intermediate or higher grade and there is a mass lesion in the thyroid gland. Here, we report a rare case of calcitonin secreting atypical carcinoid tumor of the lung in a patient with thyroid nodule. However, after extensive ancillary studies on the thyroid gland, no tumor was detected and subsequent resection specimen revealed a pulmonary atypical carcinoid tumor with metastasis to level 11 lymph node. Being aware of this entity has significant clinical, diagnostic, and therapeutic implications and can prevent unnecessary thyroidectomies with subsequent possible morbidities.
Assuntos
Calcitonina/metabolismo , Tumor Carcinoide/patologia , Carcinoma Medular/patologia , Neoplasias Pulmonares/patologia , Neoplasias da Glândula Tireoide/patologia , Idoso , Calcitonina/genética , Tumor Carcinoide/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Pulmonares/metabolismoRESUMO
Chondrosarcoma (CS) of larynx is a rare laryngeal tumor accounting about 1% of laryngeal malignancies. When CS arises from thyroid cartilage, it may clinically present as a thyroid nodule. Here we report a rare case of CS of thyroid cartilage misinterpreted as medullary thyroid carcinoma. The main aim of this case report is to emphasize the important role of accurate clinical history, appropriate physical examination, and proper localization of the tumor and clear definitive imaging in conjunction with interpretation of cytologic smears. When any of these roles are unclear, it may result in misinterpretation of the cytologic smears. In these unusual circumstances, when cytomorphologic features does not completely fit an entity, communication with the physician and the consideration of a broad differential diagnoses in the head and neck pathology may lead to correct diagnosis and avoid diagnostic pitfalls. Also in certain conditions, ancillary studies including laboratory tests are necessary for definitive classification.
Assuntos
Carcinoma Medular/patologia , Condrossarcoma/patologia , Neoplasias Laríngeas/patologia , Neoplasias da Glândula Tireoide/patologia , Biópsia por Agulha Fina , Diagnóstico Diferencial , Erros de Diagnóstico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A 12-year-old boy presented with backache and bilateral progressive lower extremity weakness. Radiological examination revealed a mass on the epidural space at level L(1)-L(3). The patient had laminectomy and posterior decompression. Histopathology examination revealed lymphocyte dominant type Hodgkin's disease. All other investigations (including computed tomography of the chest and abdomen, bone scan, gallium scan, bone marrow aspiration, and cerebrospinal fluid study) were negative for occult disease. The patient received combined therapy with irradiation and chemotherapy after surgery. At 7 years after the diagnosis, he had remained disease free and with normal functional status. This patient represents a rare case of primary epidural Hodgkin's disease in the lumbar region, rare also for onset in childhood.
Assuntos
Espaço Epidural/patologia , Doença de Hodgkin/diagnóstico , Neoplasias da Coluna Vertebral/diagnóstico , Criança , Espaço Epidural/cirurgia , Doença de Hodgkin/cirurgia , Humanos , Laminectomia/métodos , Vértebras Lombares , Imageamento por Ressonância Magnética/métodos , Masculino , Neoplasias da Coluna Vertebral/cirurgiaRESUMO
Synchronous development of gastrointestinal stromal tumors with other tumors in the digestive tract is relatively rare, and often occurs in the stomach. We report a 76-year-old woman, who suffered from the exceedingly rare synchronous development of small intestinal stromal tumor and cecal adenocarcinoma. The patient presented with intestinal obstructive symptoms. The pre-operative abdominal ultrasonography demonstrated a very large heterogenous periumbilical mass. Laparotomy was performed and the evaluation of the surgical specimen revealed a huge 14-cm subserosal mass of high risk ileal stromal tumor along with cecal adenocarcinoma with regional lymph node metastasis. The patient died within 3 months of diagnosis.
Assuntos
Adenocarcinoma/diagnóstico , Neoplasias do Ceco/diagnóstico , Tumores do Estroma Gastrointestinal/diagnóstico , Neoplasias do Íleo/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Adenocarcinoma/cirurgia , Idoso , Neoplasias do Ceco/cirurgia , Evolução Fatal , Feminino , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Neoplasias do Íleo/cirurgia , Laparotomia , Neoplasias Primárias Múltiplas/cirurgiaRESUMO
Human papillomavirus (HPV) is 1 of the possible aetiological factors in the development of oesophageal squamous cell carcinoma (ESCC). We aimed to study the role of HPV in ESCC. 140 cases of ESCC were analysed for the HPV DNA by polymerase chain reaction (PCR) using GP5+/GP6+ primers for L1 open reading frame (ORF) to amplify a 150 bp segment of HPV L1 ORF. This region was subsequently sequenced to identify the type of HPV. Of the 140 patients enrolled to our study 50.7% were female and 49.3% were male, aged between 20 and 81 y. 33 tumour specimens (23.6%) and 12 (8.6%) non-involved tumour margins were HPV positive. From HPV positive tumour cases 36% were positive in tumour margins. The HPV positive cases were 21.7% male and 25.3% female. There is no correlation between presence and types of HPV with patients' gender and age. The frequency of HPV subtypes in tumoural regions was as follows: HPV-16, 60.6%; HPV-18, 30.3%; HPV-33, 6.1%; and HPV-31, 3%. We found only HPV-16 in tumour margins. Our results are consistent with HPV studies conducted in other high-risk areas for ESCC and provided further evidence to support a causal association of HPV infection with ESCC.