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Jornal de Biomarcadores Moleculares e Diagnóstico

Volume 7, Emitir 5 (2016)

Relato de caso

Missing Clinical Work Up Leading to Misdiagnosis of a Case of Germ Cell Tumour

Gayatri Gogoi, Utpal Dutta, Swagata Dowerah, Projnan Saikia and Mondita Borgohain

Background: The large majority of primary testicular tumours originate from germ cells. Cryptorchidism remains the most common risk factor for testicular germ cell tumors. Approximately 10% of the cases are associated with past (corrected) or present cryptorchidism. Seminoma is the most frequent GCT and frequently occurs in undescended testes (5% to 8%).

Case report: A 30-year male attended surgery OPD with a mass in the right lumbar region. CT scan revealed a small intestinal mass which was also verified by the surgeons intraoperatively. On histopathological examination of the resected specimen a diagnosis of neuroendocrine tumour (Carcinoid) was offered. The patient came to us requesting immunohistochemistry for confirmation but it showed CK and chromogranin negativity. Further marker study showed the tumour to be positive for CD117. Revised histomorphology along with immunohistochemistry favoured the diagnosis of extragonadal germ cell tumour (seminoma). Surgeons later confirmed the soft tissue mass to be that of undescended testis, thereby leading to a final diagnosis of seminoma.

Conclusion: Cryptorchid patients have approximately a fourfold elevated risk of testicular germ cell tumors. The histopathological diagnosis at times is sufficient when proper background information is available to the pathologist. In the absence of such information, the use of adjunct studies helps us to arrive at a correct diagnosis.

Relato de caso

A Study on Schwannomas: Morphology Alone is Insufficient

Gayatri Gogoi, Jasmine Teronpi, Linda Lamngaiching Changsan, Projnan Saikia and Mondita Borgohain

Schwannomas constitute one of the most common benign peripheral nerve sheath tumors. Schwannomas can occur anywhere in the body occasionally with unusual presentation. FNB does not appear to provide an accurate preoperative diagnosis. Complete excision of the mass should be the goal of surgical excision. In this case series, we studied various clinicomorphological features of schwannomas for duration of one year. Immunostaining were done using anti-S100 protein and a panel of antibody to confirm the diagnosis cases as well as in cases whose histological picture simulated schwannoma. Out of the 9 cases in our study, two cases showed unusual presentations. Schwannoma often gives a differential diagnosis of similar benign soft tissue tumors. All cases were benign schwannoma except one case with rectal growth turned out to be gastrointestinal stromal tumor on immunohistochemistry. Herein, we are discussing about the various histological pictures of schwannoma, diagnostic difficulties encountered in histopathology and the indispensable role of immunohistochemistry in confirmation. Classic schwannoma picture in histology is insufficient to confirm the diagnosis. Cellular schwannoma often posed a differential diagnosis of other tumors in histology such as spindle cell tumor. Palisading of nuclei is not unique to schwannoma as seen in the case of gastrointestinal stromal tumor. It can also occur in leiomyoma, leiomyosarcoma, gastrointestinal stromal tumor, calcifying aponeurotic fibroma, and even in non-neoplastic smooth muscle lesion. Gastrointestinal stromal tumor may harbor a picture of classic schwannoma and should be careful in gastro intestinal site.

Artigo de Pesquisa

Diagnostic Values of a Progenitor Cell Marker CD133 Expression in Various Types of Adenocarcinoma

Kevin J Zhang, Satyum R Parikh, Nava Sigelmann-Danieli, Jason M Hafron, James L Liu, John D Schwartz, Mitual B Amin, Zhenhong Qu and Ping L Zhang

Background: The role of stem tumor cell involvement in tumorigenesis and partial resistance to chemotherapy has been established in recent years. However, diagnostic value using stem cell markers in various malignant neoplasms is not well addressed. In the current study, we compared CD133, a membranous stem cell marker, in several types of adenocarcinoma originating in colon, breast and kidney tissues, in order to determine whether expression pattern may be useful for diagnosis and differential diagnosis of varying tumors.

Methods: Paraffin embedded control and tumor sections (35 from colon, 40 from breast and 64 from kidneys) were immunohistochemically stained for CD133 using an autostainer. All membranous stains of CD133 were graded from negative (0) to 3+.

Results: In the colon, benign glands showed minimal staining (+/-) for CD133, but CD133 expression was 2+ to 3+ strong in all invasive adenocarcinoma of colon. In the kidney, unremarkable renal tubules were also minimally (+/-) positive for CD133 but the CD133 was strongly expressed in clear cell papillary renal cell carcinoma (CCPRCC) (24/24) in contrast to its focal and weak expression in conventional clear cell renal cell carcinoma (2/20). In the breast, CD133 showed 2+ to 3+ strong expression in both benign glands and invasive ductal carcinoma.

Conclusion: Our data indicate that CD133 expression patterns can be used for supporting a diagnosis of colonic adenocarcinoma, and differentiate CCP-RCC from conventional clear cell RCC, but is likely not useful in distinguishing breast carcinoma from its benign counterpart.

Comunicação curta

Medicamentos inibidores de integrina: nova terapia contra metástase

Robert Skopec

A disseminação do câncer pelo corpo-metástase é um dos maiores desafios no tratamento do câncer. Muitas vezes, não é o tumor primário que mata, mas os crescimentos secundários. As células cancerosas são capazes de se separar do local primário, viajar pelo corpo e semear novos tumores. Uma questão-chave na pesquisa do câncer era como as células cancerosas são capazes de sobreviver quando se separam de um tumor para se espalhar pelo corpo. As células são mais protegidas quando estão presas a outras células cancerosas e seus arredores. Mas elas se tornam mais vulneráveis ??se se desprenderem e flutuarem e também normalmente sofrem morte celular. A metástase agora é vista como incurável e continua sendo um dos principais alvos da pesquisa do câncer. A questão é como duas moléculas se comunicam e trabalham juntas para ajudar as células cancerosas a sobreviver durante a metástase. Estamos apresentando agora neste artigo abaixo um caso especial de medicamento capaz de bloquear a disseminação da metástase do câncer dentro do corpo humano.

Artigo de revisão

Study of Quality Assurance Programs in Anatomic Pathology that Drive Improved Proficiency, Reduce Cost and Enhance Positive Patient Outcomes

Mark Priebe MT

Objective: To review the frequency and related impact of interpretive errors in anatomic pathology and how quality assurance (QA) programs measure in their ability to help reduce diagnostic interpretive error in surgical pathology.

Design: From an extensive number of published studies, the rate of major discrepancies identified for cancer patients referred to another institution occur from 4.6% to 14.7%, depending on type of tissue. However published data indicates the current intra-lab QA programs ability to detect these discrepancies is only 0.8% to 1.7%. To help understand the cause of this gap, four formal quality assurance case review programs both inter and intra-lab were reviewed for their ability to satisfy a set of selected design attributes known to help identify interpretive error. Peer reviewed literature was researched to support claims for each program percent compliance to the attributes, strengths, drawbacks, and best demonstrated practices were identified.

Results: No program met the selected attribute listing 100%, compliance ranged from 29% (met 2 of 7) to 86% (met 6 of 7) for each program.

Conclusion: Laboratories should be aware of the limitations of each QA program and take into consideration their case and pathologist mix and current on-site concerns, select a program with attributes that best match their QA needs. In general, programs that are standardized, include external review by subspecialist and are performed close to the final sign-out date may offer the greatest amount of error discovery and potential to positively influence patient outcomes and continuous improvement. Although this study focused on discordance in cancer related surgical pathology, case review can also be an effective tool in discovery of all histology/cytology diagnostic and clerical discrepancies.

Relato de caso

Sarcoma hepático embrionário indiferenciado com Situs Inversus Totalis, poliesplenia e ducto venoso patente

Jessica El-Asmar, Nader Hirmas, Walid Faraj, Samir Akel e Bedros Taslakian

Situs inversus totalis na população pediátrica é um defeito de lateralidade raro caracterizado por uma reversão completa da imagem em espelho da anatomia normal. A associação com malignidades hepáticas raramente foi descrita na literatura. Devido à anatomia complexa, a abordagem multidisciplinar e o planejamento pré-operatório adequado são cruciais para entender a anatomia hepática.

Comunicação curta

Diagnóstico e tratamento da nefropatia diabética em pacientes com diabetes tipo 1 e tipo 2

Zhenhua Ele

A nefropatia diabética (ND) é a principal causa de doença renal em estágio terminal e o cuidado de pacientes com diabetes e ND contribui significativamente para os custos de saúde. Dos pacientes com diabetes tipo 1, aproximadamente 20%-30% acabarão desenvolvendo ND, enquanto cerca de 10%-20% daqueles com diabetes tipo 2 o farão. Nas últimas duas décadas, houve avanços notáveis ??em nosso conhecimento sobre a ND, incluindo o advento de intervenções que podem retardar significativamente ou até mesmo reverter o curso da doença progressiva. Esta revisão descreve a definição e a detecção da doença renal diabética, sua história natural, terapias comprovadas atuais e potenciais terapias futuras.

Relato de caso

Adenoma de apêndice em PET-CT com F-18 FDG em paciente com linfoma de Hodgkin: relato de caso e revisão da literatura

Nicole A Lamparello, Kenneth B Hymes, Bedros Taslakian e Roy A Raad

Tumores apendiculares, incluindo adenocarcinoma e carcinoide, são raros, respondendo por menos de 1% dos espécimes de patologia de apendicectomia. Adenomas do apêndice são ainda mais raros, com uma incidência de menos de 0,2%. Por definição, adenomas apendiculares (cistadenoma, adenoma viloso, etc.) são tumores benignos confinados à camada muscular da mucosa sem invasão. Embora o trato gastrointestinal seja o local mais comum para linfoma não-Hodgkin extranodal, a infiltração linfomatosa do apêndice é incomum, com uma frequência de 1%-3%. Além disso, o linfoma de Hodgkin raramente envolve locais extranodais. O conhecimento dos diferentes padrões de manifestações do linfoma extranodal é importante ao analisar focos de captação metabólica na tomografia por emissão de pósitrons-tomografia computadorizada (PET-CT) com fluorodesoxiglicose F-18 (FDG).

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