Pathology Commons^™

Labrad : Vol 44, Issue 3 - December 2018, Aga Khan University Hospital, Karachi

LABRAD

• CD20 Negative B-Cell Lymphomas
• Quantification of Monoclonal Protein
• A Quick Guide to Immunofixation Electrophoresis
• Autologous Bone Marrow Transplantation at AKU
• Judicious Use of Immunohistochemistry & Ancillary Techniques in Precise Categorization of Lymphoproliferative Disorders

Labrad : Vol 44, Issue 2 - September 2018, Aga Khan University Hospital, Karachi

LABRAD

• Inappropriate Requesting Of Glycated Haemoglobin (HBA1c) By Clinicians
• Fecal Calprotectin (S100a8/S100a9)
• Fecal Pancreatic Elastase: A Test for Pancreatic Insufficiency
• Radiology Pathology Correlation
• Myelodysplastic Syndromes (MDS)
• WHO Classification of Head and Neck Tumours: An Update
• Plasma Metanephrines in Diagnosis of Pheochromocytoma
• Megaloblastic Anemia
• Aplastic AnemiaTransfusion Associated Circulatory Overload (Taco): A Severe But Preventable Transfusion Reaction

Labrad : Vol 44, Issue 1 - July 2018, Aga Khan University Hospital, Karachi

LABRAD

• How to Investigate a Bleeding Disorder
• Nucleic Acid Testing at AKUH
• Lab Diagnosis of von Willebrand Disease
• Ristocetin Cofactor Activity
• All You Need to Know About Thrombophilia Screening
• Utility of ADAMTS-13 Assay
• Homocysteine as a Risk Factor of Thrombosis
• Detection of Heparin/Platelet Factor 4 Antibodies
• Anti-factor Xa Assay

Unicameral Bone Cysts: Current Concepts, Shahryar Noordin, Salim Allana, Masood Umer, Mujahid Jamil, Kiran Hilal, Nasir Ud Din

Section of Orthopaedic Surgery

Unicameral bone cysts (UBC) or simple/solitary bone cysts are benign fluid filled cavities that enlarge over time, resulting in thinning of the bone. Usually these cysts are reported in the metaphyseal areas of long bones with open physes. 85% of UBCs occur almost exclusively in children and adolescents. UBCs are more aggressive in the first decade of life and correspondingly the recurrence rate for these patients is four times that for adolescents. The proximal humerus and femur account for almost 90% of these cases. UBCs are classified as active when they are within 1 cm of the physis and latent …

Metachronous Renal Ewing Sarcoma/Primitive Neuroectodermal Tumour In A Survivor Of Burkitt Lymphoma, Kumail Khandwala, Kiran Hilal, Zehra Fadoo, Khurram Minhas

Department of Radiology

We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis. This is a rare secondary malignancy and an unusual association. This case highlights the importance …

Recurrent Hotspot Mutations In Hras Q61 And Pi3k-Akt Pathway Genes As Drivers Of Breast Adenomyoepitheliomas., Felipe C. Geyer, Anqi Li, Anastasios D. Papanastasiou, Alison Smith, Pier Selenica, Kathleen A. Burke, Marcia Edelweiss, Huei-Chi Wen, Salvatore Piscuoglio, Anne M. Schultheis, Luciano G. Martelotto, Fresia Pareja, Rahul Kumar, Alissa Brandes, Dan Fan, Thais Basili, Arnaud Da Cruz Paula, John R. Lozada, Pedro Blecua, Simone Muenst, Achim A. Jungbluth, Maria P. Foschini, Hannah Y. Wen, Edi Brogi, Juan P. Palazzo, Brian P. Rubin, Charlotte K.Y. Ng, Larry Norton, Zsuzsanna Varga, Ian O. Ellis, Emad A. Rakha, Sarat Chandarlapaty, Britta Weigelt, Jorge S. Reis-Filho

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial-myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show through whole-exome and targeted massively parallel sequencing analysis that whilst estrogen receptor (ER)-positive adenomyoepitheliomas display PIK3CA or AKT1 activating mutations, ER-negative adenomyoepitheliomas harbor highly recurrent codon Q61 HRAS hotspot mutations, which co-occur with PIK3CA or PIK3R1 mutations. In two- and three-dimensional cell culture models, forced expression of HRAS

The Value Of Mri In Distinguishing Subtypes Of Lipomatous Extremity Tumors Needs Reassessment In The Era Of Mdm2 And Cdk4 Testing, Sean Ryan, Julia Visgauss, David Kerr, Joshua Helmkamp, Nicholas Said, Emily Vinson, Patrick W. O'Donnell, Xuechan Li, Sin-Ho Jung, Diana Cardona, William Eward, Brian Brigman

Markey Cancer Center Faculty Publications

Introduction. Extremity lipomas and well-differentiated liposarcomas (WDLs) are difficult to distinguish on MR imaging. We sought to evaluate the accuracy of MRI interpretation using MDM2 amplification, via fluorescence in-situ hybridization (FISH), as the gold standard for pathologic diagnosis. Furthermore, we aimed to investigate the utility of a diagnostic formula proposed in the literature. Methods. We retrospectively collected 49 patients with lipomas or WDLs utilizing MDM2 for pathologic diagnosis. Four expert readers interpreted each patient's MRI independently and provided a diagnosis. Additionally, a formula based on imaging characteristics (i.e. tumor depth, diameter, presence of septa, and internal cystic change) …

Mammographic Breast Density And Breast Cancer Molecular Subtypes: The Kenyan-African Aspect, Asim Jamal, Maeve Mullooly, Shahin Sayed, Rose Ndumia, Innocent Abayo, James Orwa, Ronald Wasike, Zahir Moloo, Gretchen L. Gierach

Internal Medicine, East Africa

Introduction: Data examiningmammographic breast density (MBD) among patients in Sub-Saharan Africa are sparse.We evaluated how MBD relates to breast cancer characteristics in Kenyan women undergoing diagnostic mammography.

Methods: This crosssectional study included women with pathologically confirmed breast cancers (𝑛 = 123). Pretreatment mammograms of the unaffectedbreast were assessed to estimate absolute dense area (cm2), nondense area (cm2), and percent density (PD). Relationships between density measurements and clinical characteristics were evaluated using analysis of covariance.

Results: Median PD and dense area were 24.9% and 85.3 cm2. Higher PD and dense area were observed in younger women (𝑃 < 0.01). Higher dense and nondense areas were observed in obese women (𝑃-trend < 0.01). Estrogen receptor (ER) positive patients (73%) had higher PD and dense area than ER-negative patients (𝑃 ≤ 0.02). Triple negative breast cancer (TNBC) patients (17%) had lower PD and dense area (𝑃 ≤ 0.01) compared with non-TNBCs. No associations were observed between MBD and tumor size and grade.

Conclusions: Our findings show …