Polymerase chain reaction-Based clonality analysis of cutaneous B-cell lymphoproliferative processes

Introduction: The differential diagnosis of B-cell lymphoproliferative processes remains a challenge for pathologists, dermatologists and oncologists, despite advances in histology, immunohistochemistry and molecular biology. Objective: Evaluate aid and limitations of clonality analysis in the diagnosis of primary cutaneous B-cell lymphomas and B-cell pseudolymphomas. Methods: This study included 29 cases of B-cell lymphoproliferative processes classified as primary cutaneous B-cell lymphomas (13), B-cell pseudolymphomas (6) and inconclusive cases (10) using histology and immunohistochemistry. The clonality analysis was performed by polymerase chain reaction analysis of immunoglobulin light chain and heavy chain rearrangements. Results: DNA quality was shown to be generally poor; eight samples were inadequate for polymerase chain reaction analysis. The results showed monoclonality in eight of the primary cutaneous B-cell lymphomas and polyclonality in four of the B-cell pseudolymphomas. In addition, monoclonality was shown in two of the inconclusive cases by histology and immunohistochemistry, demonstrating the utility of polymerase chain reaction as an ancillary diagnostic tool for primary cutaneous B-cell lymphomas. Discussion: The low quality DNA extracted from these cases demanded the use of an IgH protocol that yielded small fragments and IgK. Both methods used together improved detection. Conclusion: Use of the two protocols, immunoglobulin heavy chain FR3-trad and immunoglobulin light chain-Kappa Biomed protocols for clonality analysis improved diagnostic accuracy.

Paratireóides: estrutura, funções e patologia / Parathyroid glands: structure, functions and pathology

Os autores tecem considerações sobre a estrutura e funções normais das glândulas paratireóides como introdução à patologia e as repercussões clinico - patológicas tanto do excesso como da redução do paratormônio. Maior ênfase é dedicada ao hiperparatireoidismo primário quanto às causas, a fisiopatologia das alterações, os aspectos anatomopatológicos macro e microscópicos das lesões e sua patogenia, na "Osteite fibrocistica" ou "doença de von Recklinghausen dos ossos" com a correlação aos aspectos radiográficos. Apresentam caso de paciente, cuja história clinica demonstra as dificuldades encontradas para o diagnóstico da doença. Referem-se ainda às alterações e patogenia das formas de hiperparatireoidismo secundário e terciário e ao hipoparatireoidismo.

The authors present a summary on the normal anatomy and function of the parathyroid glands as well as a brief review of clinical and pathological repercussions of higher and lower parathyroid hormone production. The emphasis is given on the causes, physiopathology, anatomy, macroscopy and microscopy of the lesions and their role in the genesis of fibrocystic osteitis, also known as Von Recklinhausen disease of the bones. Radiological correlation is also given. The authors show the challenges for the diagnosis in the same cases. We also write about secondary and tertiary hyperparathyroidism, as well as hypoparathyroidism.

Adamantinoma de ossos longos / Adamantinoma of the long bones

OBJETIVOS: Estudar retrospectivamente 18 casos de pacientes com adamantinoma de ossos longos, todos localizados na tíbia; ressaltar a importância da biópsia e a correlação com métodos de imagem para diagnóstico diferencial com osteofibrodisplasia e displasia fibrosa; tecer considerações sobre a natureza do adamantinoma de ossos longos, cujo nome deve-se à analogia histológica com o adamantinoma (ameloblastoma) da mandíbula. MÉTODOS: Foram analisados o quadro clínico, imagens e exames anatomopatológicos complementados com imunohistoquímica e a evolução dos pacientes. Todos foram submetidos a tratamento cirúrgico, 17 com "tibialização" da fíbula e os demais com amputação. RESULTADOS: A evolução pós-cirúrgica mostrou-se imprevisível e não relacionada com os aspectos clínicos ou histopatológicos. Dois pacientes evoluíram com metástases pulmonares e morreram. Seis não tiveram recidivas ou metástases e estão clinicamente curados. Os demais, após alta hospitalar não retornaram à consulta. CONCLUSÕES: Trata-se de rara neoplasia constituída por estruturas epiteliais e mesenquimais que devem ser diagnosticadas com precisão, antes de qualquer procedimento. O tratamento é cirúrgico com ressecção do tumor com boa margem oncológica. O comportamento biológico é variável e imprevisível.

OBJECTIVE: To make a retrospective study of 18 cases of patients with adamantinoma of the long bone, all of them located in the tibia; to point to the relevance of biopsy and the correlation with imaging methods in order to have a differential diagnosis with osteofibrous dysplasia and fibrous dysplasia; to comment on the nature of long bone adamantinoma, whose name is due to the histological analogy with the adamantinoma (ameloblastoma) of the jaw. METHODS: A review was made of the clinical condition, images, and anatomopathological exams supplemented with immunohistochemical essays, and the evolution of the patients. All of them were submitted to surgical treatment, 17 with "tibialization" of the fibula and the others with amputation. RESULTS: The post-surgical evolution showed to be unpredictable and not related to clinical or histopathological aspects. Two patients had an evolution with lung metastasis and died. Six did not present recurrent disease or metastases, and are clinically cured. The others, after being released from hospital, did not return for consultation. CONCLUSIONS: This is a rare neoplasia made of epithelial and mesenchymal structures that must be accurately diagnosed before any procedure is attempted. Treatment is surgical, with tumor resection with a good oncologic margin. The biological behavior is varied and unpredictable.

Detecção da fusão SS18-SSX em material parafinado e comparação de métodos moleculares como ferramentas no diagnóstico do sarcoma sinovial / Detection of SS18-SSX fusion transcripts in formalin-fixed parafin-emedded tissue and comparison of molecular methods as diagnostic tools for synovial sarcoma

Dos 134 Sarcoma Sinoviais estudados, a fusão SS18-SSX foi identificada em 126 (96 por cento) casos (74 SS18-SSX1, 52 SS18-SSX2) através de qRT-PCR e 120 por RT-PCR convencional. 101 casos no array de tecidos, analisados por FISH revelaram 87 (86 por cento) mostraram rearranjo do SS18. Um dos 3 casos não analisados por RT-PCR por não ter gerado cDNA de qualidade foi positivo por FISH. Áreas pouco diferenciadas foram identificadas em 44 casos (31 por cento). Não houve correlação estatisticamente significante entre os subtipos bifásico, monofásico e o tipo de fusão. Cinco casos foram negativos através dos três métodos utilizados. Concluímos que os métodos moleculares são ferramentas auxiliares importantes para o diagnóstico de SS com 96 por cento de sensibilidade e 100 por cento de especificidade.

Of 134 Synovial Sarcomas, SS18-SSX fusion products were found in 126 (96 per cent) cases using quantitative and 120 by conventional RT-PCR. 101 cases in a tissue microarray, analyzed by FISH, revealed that 87 (86 per cent) showed SS18 rearrangement. One of 3 cases, not analyzed by RT-PCR due to poor quality RNA, was positive by FISH. Poorly differentiated areas were identified in 44 cases (31 per cent). There was no statistically significant association between biphasic, monophasic and fusion type. Five cases were negative for SS18 rearrangement by all methods. We concluded that the employment of a combination of molecular approaches is a powerful aid to diagnosing synovial sarcoma giving at least 96 per cent sensitivity and 100 poer cent specificity.

Glimatosis cerebri simulating an acute diffuse encephalomyelitis: case report

Neuroradiologic, neuropathologic and immunohistochemical features are reported in a young man with a impairment of the central nervous system mimicking an acute diffuse encephalomyelitis. A white male, 17 years old, healthy till 4 months before, when developed a right hemiparesis and after 2 months a bilateral hemiparesis with a progressive impairment of several cranial nerves. Magnetic resonance imaging showed multiple lesions without a mass effect that suggested myelin loss. He remained unconscious for almost one month before dying of pneumonia. The neuropathologic examination showed a heavy brain (1505 g) with herniations and a large right midbrain. There were several soft and pink areas mainly at the right midbrain, left cerebellum and in the white matter of the left cerebral hemisphere. The histopathologic sections showed diffuse blastomatous proliferation without total replacement or destruction of the original tissue. The tumor cells had astrocytic, oligodendrocytic and spongioblastic phenotypes, some of them with a GFAP-positive reactivity. There were focal anaplastic changes. The diagnosis of "gliomatosis cerebri" was only possible by the autopsy.