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Distinction of histologically heterogenous, single primary tumor from two or more collision tumors with different primaries could represent a challenge to practicing pathologists. Histologic variations including differences in degree of differentiating within a tumor, are typically interpreted as tumor heterogeneity in a contiguous small size tumor biopsy. The authors report a case of adult former smoker female who presented with lung mass and a metastatic lytic lesion of acetabulum. A needle biopsy of a lung mass revealed an adenocarcinoma with well and moderately differentiated components. Next generation sequencing studies proved 2 different primaries in this small needle biopsy.
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Female urethral adenocarcinoma (FUA) is extremely rare. It is an aggressive malignancy, and clear cell and columnar/mucinous ("intestinal") represent the two primary histologic subtypes. Diagnosis is often delayed in patients because of their vague symptomatology; hence, they present with an advanced disease and a poor prognosis. The rarity of FUA brings challenges when determining treatment and management, and treatment guidelines for various stages are lacking. We report an intestinal-type FUA that developed from inflammation-related metaplasia in urethral diverticulum with positive paired box 8 (PAX-8) staining. In addition to intestinal-type FUA being extremely rare, this particular entity exhibiting PAX-8 positivity has not been previously described, to the author's best knowledge. The present report highlights the importance of clinical and radiological assessment as well as histomorphologic and immunophenotypic features for an accurate diagnosis of this rare and aggressive malignancy.
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In this review of megaloblastic anemia (MA), an overview of vitamin B12 and folate body requirements, biochemical pathways, and laboratory testing strategies will be provided. However, the focus of this review is the classic and unique features of MA in blood and bone marrow. Acquired MA is a benign disorder for many, but can be detrimental for some. The clinical presentation can vary considerably, and the spectrum of symptoms and signs is diverse and quite broad. Prompt recognition and therapy are critical to prevent potential irreversible damage and clinical sequelae, especially in patients with vitamin B12 deficiency. A delay in diagnosis of vitamin B12 deficiency can result in significant neurologic sequelae that may not fully resolve with treatment, including in neonates and young infants. The blood and bone marrow features in MA can closely mimic thrombocytopenic purpura, myelodysplasia, and other myeloid neoplasms. Both pancytopenia and normal MCV at presentation are common in MA and raise unique challenges for the diagnostician. Partially treated MA is also a significant diagnostic "trap". MA is highly responsive to treatment, and patients tend to improve rapidly upon treatment initiation. However, the broad range of clinical and hematologic features makes the rapid, successful diagnosis of MA a unique challenge for the hematopathologist. Even in the era of state-of-the-art laboratory testing, a high suspicion is required.
Assuntos
Anemia Megaloblástica , Deficiência de Ácido Fólico , Deficiência de Vitamina B 12 , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/etiologia , Ácido Fólico , Humanos , Lactente , Recém-Nascido , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológicoRESUMO
ABSTRACT: The 2019 novel coronavirus disease (COVID-19) has spread worldwide, infiltrating, infecting, and devastating communities in all locations of varying demographics. An overwhelming majority of published literature on the pathologic findings associated with COVID-19 is either from living clinical cohorts or from autopsy findings of those who died in a medical care setting, which can confound pure disease pathology. A relatively low initial infection rate paired with a high biosafety level enabled the New Mexico Office of the Medical Investigator to conduct full autopsy examinations on suspected COVID-19-related deaths. Full autopsy examination on the first 20 severe acute respiratory syndrome coronavirus 2-positive decedents revealed that some extent of diffuse alveolar damage in every death due to COVID-19 played some role. The average decedent was middle-aged, male, American Indian, and overweight with comorbidities that included diabetes, ethanolism, and atherosclerotic and/or hypertensive cardiovascular disease. Macroscopic thrombotic events were seen in 35% of cases consisting of pulmonary thromboemboli and coronary artery thrombi. In 2 cases, severe bacterial coinfections were seen in the lungs. Those determined to die with but not of severe acute respiratory syndrome coronavirus 2 infection had unremarkable lung findings.
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COVID-19/mortalidade , Pulmão/patologia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Autopsia , Índice de Massa Corporal , Edema Encefálico/patologia , Cardiomegalia/patologia , Comorbidade , Trombose Coronária/patologia , Bases de Dados Factuais , Fígado Gorduroso/patologia , Feminino , Patologia Legal , Glomerulosclerose Segmentar e Focal/patologia , Hepatomegalia/patologia , Humanos , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Nefroesclerose/patologia , New Mexico/epidemiologia , Sobrepeso/epidemiologia , Pandemias , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/patologia , Edema Pulmonar/diagnóstico por imagem , Edema Pulmonar/patologia , Distribuição por Sexo , Streptococcus pneumoniae/isolamento & purificação , Tomografia Computadorizada por Raios X , Corpo Vítreo/química , Imagem Corporal TotalRESUMO
Primary squamous cell carcinoma of thyroid (SCC-T) is an extremely rare, aggressive neoplasm with median survival of 9 months. Pure squamous morphology with absence of other cell types is required for diagnosis of SCC-T. Clinically, SCC-T behaves like anaplastic thyroid carcinoma (ATC) showing rapid growth, and extra thyroidal extension. We report a 91-year-old woman presenting with an enlarging thyroid mass and accompanying dysphagia and hoarseness. Fine needle aspiration revealed hypercellular specimen with large, pleomorphic, malignant cells. Intraoperative assessment revealed an inoperable tumor involving both thyroid lobes and extensively infiltrating surrounding soft tissues. A subtotal thyroidectomy was performed. Histology revealed squamous cell carcinoma replacing native thyroid tissue and infiltrating adjacent skeletal muscle. Lymphovascular and perineural invasion were present. Immunohistochemistry showed tumor cells positive for CK5-p40, Pax-8, TTF-1 and negative for thyroglobulin. P53 expression by IHC was high and Ki-67 proliferation index was > 90 %. (Next generation sequencing revealed a novel BRAF mutation (BRAF c.1799 T > A; 1801_1812del) along with TP53 and TERT mutations. PDL-1 immunohistochemistry showed positive expression in tumor cells (>80%), making patient also amenable to anti-PDL-1 immunotherapy. Patient was treated with BRAF inhibitor therapy with initial relief but eventually was put on hospice care due to increasing intolerance to therapy. This case represents a rare thyroid malignancy with a unique molecular signature consisting of a novel BRAF mutation [previously not described in SCC-T or ATC], associated with TERT-TP53 mutations. Further, importance of PDL-1 testing as a prognostic marker and as a guide to immunotherapy in refractory tumors is discussed.
Assuntos
Antígeno B7-H1/metabolismo , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/metabolismo , Carcinoma Anaplásico da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Idoso de 80 Anos ou mais , Antígeno B7-H1/genética , Biomarcadores Tumorais/metabolismo , Biópsia por Agulha Fina , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Proteínas Proto-Oncogênicas B-raf/genética , Carcinoma Anaplásico da Tireoide/diagnóstico , Carcinoma Anaplásico da Tireoide/genética , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genéticaRESUMO
Paciente femenina que presentó durante sus dos embarazos eritema nodoso, úlceras nasales y artritis. Debido a la persistencia del eritema nodoso después del segundo parto, se practicó determinación de ANA y anti-DNA IF, resultando este último positivo, por lo que se plantea el diagnóstico de lupus eritematoso y es referida al Centro Nacional de Enfermedades Reumáticas, (CNER) donde se le practicó biopsia de piel que resultó compatible con lepra: borderline o dimorfa (BB-BL) en estado reaccional tipo II (eritema nodoso leproso: ENL). Se discuten algunos de aspectos de la lepra haciendo especial énfasis en síntomas que presentó la paciente y la exacerbación de los mismos durante los embarazos, posiblemente en relación con algunos cambios inmunológicos adaptativos que son generados para mantener la tolerancia materno fetal(AU)
Female young patient with erythema nodosum, nasal ulcers and arthritis during her two pregnancies. Due to the persistence of the erythema nodosum after the second delivery, ANA and anti-DNA - IF determination were done, the latter being positive, and she was diagnosed with lupus erythematosus and was referred to the National Center for Rheumatic Diseases, where skin biopsy showed to be compatible with leprosy: borderline or dimorphic (BB-BL) in type II reactional state (leprous erythema nodosum: LEN). Some aspects of leprosy are discussed with special emphasis on symptoms that the patient presented and their exacerbation during pregnancies, possibly in relation to some adaptive immunological changes that was generated to maintain maternal fetal tolerance(AU)