A Case Report of Capecitabine-Associated Bowel Inflammation With a Novel Mutation of the DPYD Gene
Capecitabine is a fluoropyrimidine used in chemotherapeutic regiments in patients with colorectal cancer. Diarrhea and hand-foot syndrome are common adverse effects of capecitabine treatment in patients with colorectal cancer,1,2 whereas steatohepatitis is rather uncommon. In this case report, we present the case of a patient with colon cancer receiving adjuvant capecitabine treatment and suffering from severe therapy-refractory diarrhea, hand-foot syndrome, and steatosis hepatis caused by a novel mutation of the DPYD gene and a swelling of the bowel, which presented as an unusually early relapse tumor. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Pulmonary Embolus of Benign Liver Tissue Following Partial Hepatectomy
We report the case of a 55-year-old man with metastatic well-differentiated neuroendocrine tumor involving the liver and lung. He underwent a left hepatectomy to resect a large mass in the liver followed by a right lung lower lobectomy 4 months later to resect a smaller mass in the lung. The histologic evaluation of the lung specimen revealed a 0.1-cm nodule of ectopic benign liver tissue within a lumen of a small pulmonary artery. Histochemical and immunohistochemical stains were consistent with benign liver and did not provide support for metastatic well-differentiated hepatocellular carcinoma. To our knowledge, this is ...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Juxtaglomerular Cell Tumor of Kidney in Pregnancy: A Rare Case Report
We report the case of a 21-year-old woman who presented with hypertension in the first trimester of pregnancy, which was attributed to and treated as pregnancy-induced hypertension. Routine ultrasonography of abdomen in the fourth month revealed a right renal mass. Patient underwent preterm delivery in the seventh month, and the infant did not survive, and subsequently after 1 month, a partial nephrectomy was performed. The diagnosis of juxtaglomerular cell tumor was confirmed by light microscopy. The tumor was positive for CD34 and vimentin. Electron microscopy showed the characteristic rhomboid renin granules in the cyto...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

A Rare Case of Invasive Gastric Mucormycosis in a Patient With Diffuse Large B Cell Lymphoma
We report a case of invasive gastric mucormycosis in an 88-year-old man with diffuse large B-cell lymphoma, who presented with complaints of fever, coffee-ground emesis, and abdominal pain. On admission, he was hemodynamically unstable, severely malnourished, and somnolent. Abdominal tenderness was present in addition to neutropenia and severe anemia, requiring numerous transfusions. Endoscopy was performed showing multiple necrotic ulcers within the stomach. Histopathology revealed tissue-invasive mucormycosis. This patient was too ill for treatment and was discharged with hospice. Cases of invasive mucormycosis associate...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Rectal Perivascular Epithelioid Cell Tumor With Partial CD117 Expression and Giant Cells
We present the case of a 62-year-old man with rectal PEComa with some unusual features, such as gastrointestinal stromal tumor–like CD117 positivity and HMB45 (human melanoma black-45)–positive multinucleated giant tumor cells. After 12 months' follow-up, the patient is alive with no radiologic, endoscopic, or histologic evidence of disease recurrence. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Congenital Benign Metastasizing Teratoma? A Case Report and Literature Review
A case is presented of a patient with completely resected congenital immature gastric teratoma containing yolk sac tumor, with locoregional recurrence and peritoneal seeding 25 months later as pure mature teratoma. To the knowledge of the author, this is the first case of its type to progress purely as mature teratoma. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Lights, Camera, CANCER: Principles of Macroscropic (Gross) Photography for Pathology Specimens
Gross photography is used both as a teaching tool for future health care workers and as a tool in a pathologist's diagnostic arsenal. Whereas gross descriptions can often be subjective and nonstandardized (and sometimes too convoluted in complex cases), photographs can play a final role in documentation. Where words might kindle an abstract imagination of a disease process, a photograph can capture both attention and understanding. There are 4 critical principles of good gross photography: (1) background surface, (2) photograph composition, (3) lighting, and (4) extra photography tools. As gross photography plays a pivotal...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

Grossing Issues in Ovarian and Fallopian Tube Pathology
Ovaries and fallopian tubes are often removed for treatment of various benign and malignant gynecological conditions including prophylactic resections in high-risk patients. Meticulous grossing techniques are essential for staging, prognostication, and accurate diagnosis. We conducted a comprehensive review of published literature on methods for grossing pelvic adnexal specimens, including standard textbooks and grossing manuals, supplemented by a limited review of grossing protocols from academic institutions. This review addresses common issues encountered during the grossing of ovarian and fallopian tube specimens. (Sou...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

Pancreatoduodenectomy: Perspectives on a Standardized Grossing Protocol for the Practicing Pathologist
The pancreatoduodenectomy or Whipple procedure is a complex oncologic surgical specimen with 2 dominant yet opposing standardized grossing protocols reported in the literature, the Leeds Pathology Protocol (LP) and the bivalving technique. The LP recommends the axial slicing of the pancreatic head perpendicular to the longitudinal axis of the duodenum, whereas the bivalving technique suggests sampling margins separately followed by bisecting the pancreas along the pancreatic and biliary ductal systems. An assessment can then be performed to determine which plane best serves to examine a particular tumor. This review provid...
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

The Head and Neck Oncology Specimen: The Gross Examination as an Essential Component to Diagnosis and Optimal Patient Outcomes
This article presents a review of recent publications and guidelines of general grossing principles and recent updates to optimize cancer-free surgical margins and to emphasize the limitation issues encountered in routine practice. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

Go Gross or Go Home: The Importance of Gross Examination in Lung Cancer Staging and Diagnosis of Nonneoplastic Diseases
Gross examination is fundamental to the practice of surgical pathology. Accurate diagnosis can often be made based on the classic gross appearance of a lung lesion. On the other hand, inaccurate diagnosis or wrong tumor staging is unavoidable if lesions are missed, unrecognized, or inadequately sampled. Different grossing techniques should be used for grossing neoplastic and nonneoplastic lung specimens. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

Grossing Breast Cancer Specimens: A Comprehensive Review
This article will provide a comprehensive source for grossing commonly received breast specimens, ranging from surgical biopsies to modified radical mastectomies and will describe the proper care of preanalytical measures to avoid compromise of biomarkers, methods to ensure adequate sampling of tissue for diagnosis, and assessment of tumor burden following neoadjuvant treatment. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Reviews Source Type: research

Evolving Grossing Techniques in Surgical Pathology
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2020 Category: Pathology Tags: Editorial Source Type: research

Blue Nevus of the Prostate: A Report of Two Cases and Review of the Literature
Pigmented lesions of the prostate are very rare and include melanosis, blue nevus, and malignant melanoma. Of these lesions, blue nevus (also known as pigmented melanocytosis or pigmentary nevohyperplasia) is the most frequently reported one. It is morphologically similar to its much more common cutaneous counterpart and composed mainly of heavily pigmented spindle cells within the prostatic stroma. It is often discovered incidentally in needle biopsies, transurethral resection of the prostate, or prostatectomy specimens performed for prostatic cancer or benign prostatic hyperplasia. It is a benign lesion with no potential...
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Prostatic Malakoplakia: Case Report and Review of the Literature
A 69-year-old Asian man with a history of overactive bladder presented with postvoid dribbling and urinary incontinence in the past three years. He had cervical spinal stenosis surgery one month ago and two episodes of urinary tract infections with multidrug-resistant Escherichia coli species in urine culture in the last three months. Digital rectal examination revealed a 1-cm hard nontender nodule within the right side of his prostate, concerning for possible prostatic malignancy. Ultrasound study identified a hypoechoic area in the right lateral prostate. Serum prostate-specific antigen level was 2.03 ng/mL (reference ra...
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Rhabdomyosarcoma of the Adult Prostate: Two Cases With Molecular and Cytogenetic Analyses
Primary rhabdomyosarcoma (RMS) of the adult prostate is a very rare tumor with only 45 cases published to date. The clinical course of RMS of the prostate is very aggressive, and prognosis is very poor. Here we describe two cases of primary RMS of the prostate of adult patients and discuss the differential diagnosis of RMS with other mesenchymal tumors of prostate. The first patient was a 50-year-old man who clinically presented with urinary retention and hematuria, low serum prostate-specific antigen, moderate prostatomegaly, and multiple metastases as shown by computed tomography. Histological examination revealed a diff...
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Prostatic Carcinoma With Aberrant Expression of p63: A Case Report and Review of the Literature
We report a case of prostatic carcinoma with aberrant expression of p63 with a review of the literature and helpful features in the differential diagnosis of this entity. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Histopathologic Changes in a Hypogonadal Male on Exogenous Testosterone Diagnosed With Prostatic Adenocarcinoma: A Case Report
In the United States, prostatic adenocarcinoma is the most common nonskin cancer and second leading cause of cancer death. Pathologic diagnostics are paramount to guiding treatment but require an awareness that hormonal treatments have the capacity to alter the histological appearance of prostate cancer. This case highlights the importance of accurate diagnostics and grading through a discussion of histological findings in an unusual case of a male patient with hypogonadism on long-term exogenous testosterone who was diagnosed with prostatic adenocarcinoma. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Adenosquamous Carcinoma of the Prostate: A Unique Presentation of a Rare Entity and Review of the Literature
We describe a rare case of de novo metastatic adenosquamous carcinoma in a patient presenting with a markedly elevated serum prostate-specific antigen and multiple osteoblastic lesions. The prognosis for patients with adenosquamous carcinoma of the prostate has historically been dismal, with death occurring within 12 to 24 months of diagnosis. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Diffuse Synaptophysin Expression in Aggressive Recurrent Castration-Resistant Acinar (Usual) Prostate Cancer: Case Report and Review of Prostatic Neuroendocrine Tumors
We present a case of metastatic acinar prostatic adenocarcinoma with neuroendocrine features with strong and diffuse synaptophysin expression, mimicking a metastatic neuroendocrine tumor. We review recognized prostatic neuroendocrine tumors, tumors with neuroendocrine differentiation requiring further investigation, relevant differential considerations, and recommended ancillary workup of challenging cases. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Mixed Small Cell Neuroendocrine Carcinoma and Conventional Acinar Adenocarcinoma of the Prostate: A Case Report
Prostate cancer with neuroendocrine (NE) differentiation can be classified into six categories: conventional adenocarcinoma with NE differentiation, adenocarcinoma with Paneth cell–like NE differentiation, carcinoid tumor, small cell carcinoma, large cell carcinoma, and mixed NE carcinoma-acinar adenocarcinoma. Mixed NE carcinoma-acinar carcinoma is a biphasic carcinoma characterized by the presence of NE (small or large cell) carcinoma and conventional acinar adenocarcinoma. In rare cases, these two components overlap without discrete classic small cell carcinoma or a usual prostate adenocarcinoma component, making ...
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Hormone -Refractory Prostatic Adenocarcinoma Mimicking Basal Cell Carcinoma: A Case Report
In this report, we present a typical case of “double-negative” end-stage prostate cancer that morphologically resembled basal cell carcinoma of prostate, basaloid large nest type. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

The Morphologic Spectrum of Castration-Resistant Prostate Cancer: Case Reports and Literature Review
Conventional acinar prostatic carcinomas are dependent on the androgen receptor (AR) to proliferate. Androgen deprivation therapy (ADT) is a common treatment for prostate cancers that have metastasized and is also being administered as first-line therapy with or without radiation therapy for intermediate- or high-risk disease. Cancers that recur after initially responding to ADT, or castration-resistant prostatic carcinomas (CRPCs), have a poor prognosis and are more likely to show divergent differentiation than de novo carcinomas. This review will present four cases of CRPC to highlight the morphologic spectrum, discuss e...
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Difficult Diagnosis of Difficult Entities of the Prostate
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - May 1, 2020 Category: Pathology Tags: Editorial Source Type: research

A “Double-Hit” Translocation Sarcoma—First Report of the Co-occurrence of EWSR1-FLI1 and MTMR2-NTRK2 Fusion in a Small Round Blue Cell Sarcoma
We report a case of a 51-year-old man with primary diagnosis of Ewing sarcoma confined to the soft tissue, associated with EWSR1-FLI1 gene fusion demonstrated by fluorescence in situ hybridization (FISH). Six years after the diagnosis, immunohistochemistry for NTRK (neurotrophic receptor tyrosine kinase 1–3) was performed on this tumor using 2 Pan-Trk rabbit monoclonal antibodies, A7H6R (Cell Signaling Technology, Danvers, Mass) and EPR17341 (Abcam, Cambridge, Mass). Both clones showed diffuse moderate to strong cytoplasmic expression including presence of nuclear stain. RNA sequencing demonstrated the co-occurrence ...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reports Source Type: research

Pancreatic Panniculitis—Not Just a Skin Disease
We present the case of a patient who presented with a 1-year history of intermittent nausea, bloating, and anorexia with computed tomography scan findings of a complex pancreatic cystic lesion, omental findings concerning for carcinomatosis, and ascites. She developed tender, erythematous, and hyperpigmented subcutaneous nodules on bilateral lower extremities that were first noted on admission. Pancreatic biopsy revealed pancreatic pseudocyst and laboratory findings on admission were consistent with pancreatitis and pancreatic ascites. Laparoscopic omental biopsies revealed multifocal, nodular fat necrosis and associated i...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reports Source Type: research

Case Report: Benign Phyllodes Tumor of the Vulva
Phyllodes tumor of the vulva is a rare tumor and is histologically similar to phyllodes tumor of the breast. Morphological and immunohistochemical features of a case are presented here. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reports Source Type: research

When the Horse Has Stripes: Central Nervous System Blastomycosis Presenting as a Ring-Enhancing Lesion in an Immunocompetent Patient
A new, single, ring-enhancing lesion in the cortex of an immunocompetent individual has a broad differential diagnosis, although primary or metastatic malignancies are usually highest on the list. The presence of inflammation without overt malignancy, however, is cause for considerations that may require ancillary testing with fresh tissue and obtaining multiple frozen samples. Central nervous system (CNS) infection with blastomycosis is a rare but potentially fatal complication, with a mortality rate approaching 20% secondary to multiple factors including delay in presentation and diagnosis (Clin Infect Dis 2010;50:797&nd...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Pitfalls and Traps in Neuropathology
Impediments to making a correct diagnosis are avoided, and complex administrative efforts are used to make those impediments less frequent. There are quality control procedures, patient safety initiatives, and endless meetings attempting to lessen medical errors. Pitfalls and traps are encountered daily by pathologists, and most are avoided. Artifacts produce traps created by cautery, physical crush, thick sections, and drying and are well known. Appropriate deferral, recuts, stains, and collegial consultations aid in error avoidance in these instances. Neuropathology has some pitfalls and traps that are encountered infreq...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Mass in the Meninges: Meningioma Types and Grades
Tumors of the meninges are common, probably the most common tumor of the cranial vault. Meningiomas arise from the arachnoid, but because the arachnoid and dura are frequently fused, they may appear to be of dural origin. Meningiomas frequently arise from the arachnoid cap cells, which are arachnoidal projections into dural sinuses for reabsorption of cerebrospinal fluid. This explains the frequency of meningiomas found along the dural sinuses. Meningiomas are considered benign, but recurrences are common. More frequent recurrences are found with the higher grades. Complete surgical removal is associated with a good progno...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

The Tale of Two Hedgehogs: Central Nervous System Embryonal Tumor Diagnosis in 3 Acts
Primitive embryonal tumors of the central nervous system have undergone considerable evolution in their categorization in the past century—most rapidly in the past decade with the application of molecular pathology in diagnosis. This presents numerous practical considerations when encountering one of these tumors. One may need to utilize multiple techniques to come to a prognostically accurate and actionable diagnosis. We review two cases, both with the final diagnosis of “medulloblastoma, SHH activated and TP53 wild type (World Health Organization grade IV).” These diagnoses were each arrived upon using ...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

A Posterior Fossa Mass in a 6-Year-Old
We present a case of pediatric medulloblastoma in which hematoxylin-eosin–stained tissue sections, reticulin special stain, immunohistochemistry, cytogenetics, and next-generation sequencing were implemented for the purpose of identifying subgroup and other markers of prognosis, such as TP53 mutation and MYC family member amplification. The discussion herein is aimed at reviewing current opinions on the integration of histomorphologic and molecular subgroups of medulloblastoma and providing a foundation for designing a practical and clinically meaningful approach to diagnosis. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

High-Grade Gliomas in Early Adulthood: A Case-Based Review of Current Molecular Diagnostic Considerations
High-grade gliomas in early adulthood (between the ages of 20 and 40 years) have a wide differential diagnosis that includes entities from childhood and late adulthood. These gliomas are increasingly defined by their molecular signatures, requiring a molecular-based workup that is informed by morphology and anatomy. Here we present four cases with four different diagnoses, some rare and some common, presenting with new brain lesions. This diagnostic process is informed by the 2016 World Health Organization guidelines, c-IMPACT Now updates, and the clinico-pathologic features shown by these high-grade tumors. Particularly, ...
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Glial Tumors
Glial tumors comprise the majority of primary intra-axial intracranial tumors. Since its introduction in 2016, the revised fourth edition of the World Health Organization (WHO) classification of central nervous system tumors has changed the diagnostic and therapeutic approach in glial tumors (WHO Classification of Tumours of the Central Nervous System [revised fourth edition]; Lyon, France: IARC; 2016). Diffuse gliomas (WHO grades II–IV) are now molecularly stratified based on isocitrate dehydrogenase 1 or 2 mutation status and classified according to 1p/19q codeletion status into astrocytic or oligodendroglial type....
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Review Source Type: research

Brain Tumors: Updates and Practical Considerations
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - March 1, 2020 Category: Pathology Tags: Editorial Source Type: research

Spironolactone Bodies: An Interesting Pathological Phenomenon in Adrenal Aldosteronomas
We present a brief summary of his presentation, diagnostic work-up, operative management, and outcome. The association of spironolactone bodies (S bodies) with the use of spironolactone in patients with Conn syndrome is described. Furthermore, the incidence, pathophysiology, and histological characteristics or S bodies are reviewed. This case is educational as it provides a concise summary of the workup for adrenal aldosteronomas. Additionally, it highlights a rare and poorly understood pathological feature unique to this tumor type. Recognition of S bodies in a surgical specimen adds to diagnostic certainty and may avoid ...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Intrahepatic Mass-Forming Extramedullary Hematopoiesis in a Patient With Sickle Cell Disease: Case Report and Literature Review
We describe a rare case of mass-forming EMH that presented as two intrahepatic lesions, radiologically well-demarcated and nonenhancing on computed tomography. On magnetic resonance imaging, the lesions appeared T1 hypointense and T2 hyperintense with restricted diffusion. The lesions were discovered at the surgical workup for acute cholecystitis in a patient with previous history notable for sickle cell disease. Given the radiological concern for a neoplastic process, an ultrasound-guided biopsy was performed and diagnosed histologically as EMH. A review of the current literature detailing the common clinical, radiologica...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Unsuspected Cirrhosis-Like Subtype of Hepatocellular Carcinoma in Explanted Liver: A Review
Cirrhosis-like hepatocellular carcinoma is a rare subtype of hepatocellular carcinoma that is mostly diagnosed at time of liver transplantation or autopsy and is not clinically suspected preoperatively or premortem. This entity is characterized by numerous distinct neoplastic foci that arise within regenerative cirrhotic nodules. Knowledge of this subtype of HCC is important for comprehensive examination of explanted and autopsy liver specimens. The clinical presentation, gross, histology, and prognosis are discussed in this review. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Langerhans Cell Histiocytosis With Solitary Hepatic Involvement in an Adult Patient: Diagnosis, Transplantation, and Recurrence
We describe an unusual case of LCH with solitary hepatic involvement. Histopathologic materials from both native and allograft specimens, including all biopsies, explant hepatectomies, and correlating clinical data accumulated over a 10-year interval, were reviewed. A 46-year-old woman presented with jaundice and pruritus. An initial workup including liver biopsy led to the diagnosis of antimitochondrial antibody–negative primary biliary cholangitis with advanced fibrosis. Within a year, the patient progressed to decompensated cirrhosis requiring transplantation. Her posttransplant course was complicated by frequent ...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Combined Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Lung: A Report of 2 Patients With Overlap Syndrome
We report two cases of ECD-LCH “overlap syndrome” occurring in the lung. In both cases, the diagnoses were supported by typical immunohistochemical patterns, and in both cases, the BRAF V600E mutation was identified by next-generation sequencing and confirmed by droplet digital polymerase chain reaction. In neither case was either diagnosis suspected. The recognition of overlap histiocytoses is important. Although LCH and ECD may differ in treatment and prognosis, in some cases, such as the two patients reported here, they may have the same activating mutations and may be able to be treated with the same target...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Congenital Solitary Orbital Juvenile Xanthogranuloma. Report of a Case With Challenging Clinical and Microscopic Presentation
In conclusion, JXG is capable of spontaneous regression, and for this, its management can be conservative. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

ETV6-NTRK3–Positive Inflammatory Myofibroblastic Tumor of the Ileum: Report of an Infantile Case and Review of the Differential Diagnosis of Pediatric Intestinal Polypoid Lesions
We report a case of an intestinal polyp causing intussusception in a 2-month-old boy. The resected polyp was diagnosed by histology and immunohistochemistry as an anaplastic lymphoma kinase (ALK)–negative inflammatory myofibroblastic tumor (IMT), and the ETS variant 6 (ETV6)–neurotrophic receptor tyrosine kinase 3 (NTRK3) fusion gene was detected by reverse transcription–polymerase chain reaction. Recently, histologically definitive, ALK-negative IMTs possessing the ETV6-NTRK3 fusion gene have been reported. To the best of our knowledge, this is the first case of an intestinal IMT harboring ETV6-NTRK3. In...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Adamantinoma of the Femur With High-Grade Epithelial and Sarcomatoid Components: Case Report and Review of the Literature
We present the case of a 48-year-old woman who presented with a 5-cm proximal femoral lytic lesion at risk of pathologic fracture. Frozen-section evaluation demonstrated an intimate admixture of atypical squamous nests and spindle cells, consistent with metastatic sarcomatoid carcinoma, so prophylactic intramedullary nailing was completed. Postoperative clinical and radiologic evaluation failed to identify a primary carcinoma, and short-term follow-up demonstrated rapid tumor spread throughout the femur and thigh. The patient underwent hip disarticulation, and microscopic examination demonstrated areas of classic adamantin...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Diagnostic Dilemma: Atypical Giant Cell Tumor of Bone Versus Primary Giant Cell Sarcoma
We present a case of a 24-year-old man presenting with 6 weeks of thigh pain. Biopsy demonstrated a benign-appearing GCTB, and final pathology after intralesional curettage yielded the same diagnosis. At 12 weeks postoperatively, a biopsy was performed for a recurrence on imaging, and two independent pathologists confirmed a recurrent GCTB. Single-agent chemotherapy was initiated, yet the patient developed an enlarging soft tissue mass at the same location along with new pulmonary nodules. The patient underwent a third biopsy of the thigh mass as well as a pulmonary wedge resection. The diagnosis at this time was primary g...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Clear Cell Tumor of the Maxilla With MAML2 and EWSR1 Gene Rearrangements: A True Hybrid or a Flourescence in Situ Hybridization Fumble?
Clear cell odontogenic carcinoma and clear cell variant of mucoepidermoid carcinoma are rare and aggressive tumors that usually affect individuals in the fifth decade of life and have a predilection for the maxilla and mandible. Clear cell odontogenic carcinoma is characterized by EWSR1 gene rearrangement, whereas MAML 2 gene rearrangement is pathognomonic for mucoepidermoid carcinoma. Fluorescence in situ hybridization analysis for rearrangement of these genes can be extremely helpful in difficult cases when conventional histological distinction is not possible. Herein, we describe a unique case in which a 69-year-old man...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Bilateral Multifocal Warthin Tumors Mimicking Metastatic Papillary Thyroid Carcinoma: A Rare Case Posing a Diagnostic Challenge
We report an unusual diagnostically challenging case of synchronous, bilateral, multifocal intraparotid and extraparotid Warthin tumors mimicking a metastatic papillary thyroid carcinoma. We also highlight the usefulness of intraoperative consultation in guiding appropriate management in such cases. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Unusual Human Papillomavirus–Related Neoplasms of the Head and Neck: A Case Series and Review of Literature
We report a series of cases involving two unique HPV-mediated neoplasms. Human papillomavirus–related multiphenotypic sinonasal carcinoma is a locally aggressive tumor arising exclusively in the sinonasal tract with pathologic features reminiscent of high-grade adenoid cystic carcinoma. Ciliated adenosquamous carcinoma often presents as a unilateral neck mass and consists of admixed nonkeratinizing squamous cell carcinoma and glandular elements, which may be deceptively bland. Cilia are often present, which are traditionally associated with benignity and may lead to misdiagnosis as a benign branchial cleft cyst. In m...
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Case Reviews Source Type: research

Rare But Important Diagnostic Entities II: Potpourri of Case Reports With Pitfalls and Teachable Moments
No abstract available (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - January 1, 2020 Category: Pathology Tags: Editorial Source Type: research

Soft Tissue Fibroblastic Reticular Cell Tumor With Whole-Exome Sequencing Findings: An Unexpected Presentation of Lynch Syndrome
We report a case of FRCT presenting as a right thigh mass in a 67-year-old woman with no prior malignancies. Gross examination showed a 10.6-cm tan well-circumscribed intramuscular mass. Microscopic examination revealed a discohesive population of cells with indistinct pale cytoplasm and large irregular, atypical vesicular nuclei with variably prominent nucleoli in a collagenous background infiltrated by lymphocytes. The tumor cells were positive for smooth muscle actin, cytokeratins (in a dendritic pattern), and CD163, while negative for CD21, CD35, and CD23, supporting the diagnosis of FRCT. Whole-exome sequencing reveal...
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research

Myeloid Sarcoma of the Urinary Bladder Associated With t(8;21): Case Report and Review of the Literature
We report a case of a 30-year-old man with a urinary bladder mass, which was consistent with myeloid sarcoma with t(8;21). The importance of myeloid sarcoma of the bladder is that it could be misdiagnosed and must be differentiated from other poorly differentiated bladder tumors composed of round cells, mainly because it is a malignant neoplasm with a good response to treatment, which does not require surgery. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - November 1, 2019 Category: Pathology Tags: Case Reviews Source Type: research