Molecular Biomarkers & Diagnosis

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.

Diabetic nephropathy (DN) is the leading cause of end-stage renal disease and the care of patients with diabetes and DN contributes significantly to health care costs. Of patients with type 1 diabetes, approx 20%-30% will eventually develop DN, whereas about 10%-20% of those with type 2 diabetes will do so. In the past couple of decades, there have been notable advances in our knowledge regarding the DN, including the advent of interventions that can significantly slow or even reverse the course of progressive disease. This review describes the definition and detection of diabetic kidney disease, its natural history, current proven therapies, and potential future therapies.

Situs inversus totalis in the pediatric population is a rare laterality defect characterized by a complete mirror-image reversal of the normal anatomy. The association with hepatic malignancies has been rarely described in the literature. Because of the complex anatomy, multidisciplinary approach and adequate pre-operative planning are crucial in order to understand the hepatic anatomy.

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.

The spread of cancer around the body-metastasis is one of the biggest challenges in cancer treatment. It is often not the primary tumor that kills, but the secondary growths. Cancer cells are able to break away from the primary site, travel around the body and seed new tumors. A key question in cancer research was how cancer cells are able to survive when they break away from a tumor to spread around the body. Cells are more protected when they are attached to other cancer cells and their surroundings. But they become more vulnerable if they detach and float and also normally undergo cell death. Metastasis is now seen as incurable and remains one of the key targets of cancer research. The question is how two molecules communicate and work together to help cancer cells survive during metastasis. We are presenting now in this article below one special drug case able to block the spread of cancer metastasis within the human body.

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.

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.

Appendiceal tumors including adenocarcinoma and carcinoid are rare, accounting for less than 1 percent of appendectomy pathology specimens. Adenomas of the appendix are even more rare, with an incidence of less than 0.2 percent. By definition, appendiceal adenomas (cystadenoma, villous adenoma, etc.) are benign tumors confined to the muscularis mucosa layer without invasion. Although the gastrointestinal tract is the most common site for extranodal non- Hodgkin lymphoma, lymphomatous infiltration of the appendix is uncommon with a frequency of 1%-3%. Furthermore, Hodgkin lymphoma, rarely involves extra-nodal sites. Knowledge of the different patterns of extranodal lymphoma manifestations is important when analyzing foci of metabolic uptake on F-18 fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT).