North American Journal of Medicine and Science
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Case Report: A Composite Diffuse Large B-cell Lymphoma and Classic Mantle Cell Lymphoma in the Small Intestine
Get PDFComposite lymphomas, defined as the coexistence of two distinct lymphoma subtypes within the same tissue, are rare entities, comprising only 1–4.7% of all lymphomas. Among these, the concurrent occurrence of diffuse large B-cell lymphoma (DLBCL) and mantle cell lymphoma (MCL) is exceedingly rare, with only a handful of cases reported. Accurate diagnosis and tailored treatment are critical given the distinct biological and clinical behaviors of these lymphomas. Here, we report the case of a 71-year-old male with a history of Crohn’s disease, presenting with a mass involving the ileocecal valve and terminal ileum, revealed on imaging and confirmed via right hemicolectomy and small bowel resection. Histopathological analysis identified two adjacent but immunohistochemically distinct lymphomas: a classical MCL with nodular architecture and a high-grade DLBCL. Immunohistochemistry and fluorescence in situ hybridization (FISH) studies demonstrated that the MCL expressed SOX11, Cyclin D1, and CD5, with CCND1/IGH translocation present, while the DLBCL lacked these markers, confirming the two lymphomas were clonally unrelated. This case represents the first reported composite lymphoma of MCL and DLBCL arising in the small intestine. The distinction between these two lymphomas was achieved through a combination of morphological, immunohistochemical, and genetic analyses. The rarity and heterogeneity of composite lymphomas pose diagnostic and therapeutic challenges, emphasizing the need for comprehensive evaluation. Given the aggressive nature of DLBCL, treatment often prioritizes this component, although the individualized management of composite lymphomas remains essential. This case highlights the importance of thorough diagnostic workup, including advanced immunohistochemistry and genetic studies, to differentiate between lymphoma subtypes within composite lymphomas. Excisional biopsy remains critical to minimize sampling bias, and further research is needed to understand the pathogenesis and optimize treatment strategies for these rare entities. [N A J Med Sci. 2024;18(1):001-004. DOI: 10.7156/najms.2024.1801001
Granulomatous Epididymo-Orchitis, A Rare Complication of Bacillus Calmette-Guerin Immunotherapy for Bladder Cancer: A Case Report
Get PDFGranulomatous epididymo-orchitis (GEO) is a rare disease characterized by granulomatous inflammation due to etiologies such as infection with mycobacteria. A well-known mycobacterial infection, Mycobacterium tuberculosis (M. tb) which causes tuberculosis (TB), can disseminate from the lungs to infect other organs. However, a mycobacterial infection in the genitourinary system without clinical evidence of TB is unusual. A 79-year-old man with nonmuscle invasive papillary urothelial carcinoma (PUC) was treated with chemotherapy and Bacillus Calmette-Guerin (BCG) immunotherapy, a live-attenuated strain of Mycobacterium bovis (M. bovis). One year later, he developed an epididymal cyst on the left testicle and an enlarged left epididymis. A simple left orchiectomy was performed. Microscopic examination showed granulomas within the testicular and epididymal parenchyma. Ziehl-Neelsen (AFB) stain revealed scattered acid-fast bacilli. The positive AFB stain raised the possibility of TB infection. However, the patient had no clinical evidence of latent or active TB, family history of TB, or TB treatment in the past. Here, we present a rare case of GEO, not caused by TB, but by BCG, a live-attenuated strain of M. bovis. [N A J Med Sci. 2024;17(1):008-010. DOI: 10.7156/najms.2024.1701008] Key Words: granulomatous epididymo-orchitis, bacillus calmette-guerin (BCG), Mycobacterium bovis, complication of BCG, tuberculosis (TB
An Incidental Large Rectal Polyp with Idiopathic Small Arteriovenous Dysplasia in Colonic Submucosa: A Case Report
Get PDFRectal polyps with idiopathic small arteriovenous dysplasia are rare. The mesenteric vascular diseases were recently classified as two vascular diseases: fibromuscular dysplasia (FMD) of artery and mesenteric arteriovenous dysplasia/vasculopathy (MAVD/V). FMD usually involves medium size mesenteric arteries in younger individuals. In contrast, MAVD/V tends to affect multiple small mesenteric arteries and veins without vascular lesions in other organs. We reported that a 45-year-old male with a large rectal polyp for routine colorectal screening. Microscopic examination shows chronic ischemic changes and multiple small arteries, veins and capillaries with intimal and medial hyperplasia and focal occlusion, mimicking mesenteric arteriovenous dysplasia and named it as submucosal arteriovenous dysplasia. [N A J Med Sci. 2024;17(1):001-003. DOI: 10.7156/najms.2024.1701001
Lamotrigine Reduces the Number of Vertigo Attacks in Patients with Meniere’s Disease: A Pilot Study
Get PDFSpontaneous episodes of vertigo, called vertigo attacks, are the most disabling symptom of Meniere’s disease (MD). The purpose of this study was to compare the number vertigo attacks in patients with MD before and after establishing a maintenance dose of lamotrigine (Lamictal ®). A retrospective chart review was conducted on patients who were diagnosed with definite, unilateral MD, and prescribed lamotrigine for potential management of MD vertigo attacks. Patients were divided into two groups based on whether they had a history of migraine because migraine is one factor that distinguishes MD clinical subgroups. The number of vertigo attacks experienced by each patient was retrieved from clinic visit notes. The number of vertigo attacks in the 12 weeks prior to prescription of lamotrigine (Baseline) and in the first 12 weeks on a maintenance dose of lamotrigine (Maintenance) were compared via paired t-tests within the groups. Overall, thir-ty-three patients met criteria, of which 13 had and 20 did not have history of migraine. The number of attacks reported during Maintenance was significantly less than that reported during Baseline both for patients with (p = 0.001) and without (p = 0.0005) history of migraine. Both MD patients with and without migraine reported fewer vertigo attacks while on a maintenance dose of lamotrigine than prior to prescription of lamotrigine. [N A J Med Sci. 2024;17(1):008-010. DOI: 10.7156/najms.2024.1701008] Key Words: Lamictal, episodic dizziness, endolymphatic hydrops, vestibular migraine,migraine-associated vertigo, vestibular disorders, hearing loss, tinnitu
Incidence and Outcomes of Primary Cutaneous Anaplastic Large Cell Lymphoma: a SEER Population Based Study
Get PDFPrimary cutaneous anaplastic large cell lymphoma (PC-ALCL) is the second most common type of cutaneous lymphoma of T cell origin. Despite its higher prevalence among dermal lymphoma, its overall incidence is rare; hence, its demographic characteristics and outcome is not well explored. Here, we have examined the epidemiologic features and outcomes in PC-ALCL in the population of the United States. First, we identified patients with PC-ALCL from the Surveillance Epidemiology and End Results database from 1975 - 2017. Cases with only histological and immunohistochemical or molecular evidence of diagnosis were included in the study. Age, sex, and race-standardized incidence rates (IR) were calculated. Survival was assessed using Kaplan-Meier curves and Cox proportional hazards models. Of all 569 cases documented as PC-ALCL, 93 patients fulfilled the inclusion criteria. We found the incidence of PC-ALCL to be highly correlated with increased age. There is a predominance of PC-ALCL in white male population. The survival analysis did not signify age of diagnosis, sex, or race as factors affecting the outcome for the patients. Although the site of primary tumor trends towards affecting survival, it does not meet statistical significance. PC-ALCL is a rare malignancy predominantly affecting older white male in the United States. The increased age is highly correlated with disease development, however, neither the demographic characteristics nor the site of the primary tumor affects the outcome for the patients. [N A J Med Sci. 2024;17(1):004-007. DOI: 10.7156/najms.2024.1701004
Vague Respiratory Symptoms as the Initial Presentation of Primary Cardiac Angiosarcoma: A Case Report
Get PDFPrimary cardiac angiosarcoma is a rare and aggressive tumor. Its symptoms and signs are often diverse and nonspecific, often leading to delayed diagnosis. Here we report a case of primary cardiac angiosarcoma with vague respiratory symptoms as the first presentation, possibly due to pulmonary metastasis.
The patient is a 58-year-old woman with shortness of breath for several weeks. She further developed a dry nonproductive cough. Other symptoms include diarrhea, nausea and vomiting, fever, and fatigue. Her past medical history included ankylosing spondylitis, fibromyalgia, hypertension, and tobacco use. Chest CT without contrast showed numerous bilateral pulmonary nodules scattered throughout her lungs. The main clinical differential diagnosis includes infectious endocarditis with septic pulmonary emboli or other possible multifocal infections. However, a computed tomography angiography (CTA) showed no evidence of pulmonary embolic disease. After being admitted into the hospital, a 2-dimensiomal echocardiogram was performed, revealing a sessile ovoid mass in the right atrium measuring 3.5 x 4.3 cm. MRI confirmed the above findings.
A CT-guided left lower lobe lung biopsy was performed, revealed lung parenchyma with areas of vascular proliferation lined by atypical cells showing high nuclear/cytoplasmic ratio, hyperchromatic nuclei, and frequent mitosis. These atypical cells are positive for CD31 and CD34, consistent with endothelial origin. TTF-1, CK7, CAM5.2, and CAMTA1 were all negative. Subsequently, a right atrial biopsy was also performed, showing scant neoplastic cells with significant nuclear atypia, frequent mitotic figures, and frequent intracytoplasmic vacuoles. The neoplasm appeared to be forming vaguely vascular spaces in a few minute areas combined with a diffuse pattern of growth, consistent with a neoplasm of vascular origin. Similar to the lung biopsy, neoplastic cells from right atrium are strongly positive for CD31, focal positivity for CD34, and negative for TTF-1, BER-EP4, MOC-31, CK5/6, calretinin, and HHV8. In addition, MIB-1 expression showed a high proliferative index. CAMTA immunostaining for epithelioid hemangioendothelioma was also negative. Based on the overall clinical, radiological, histological and immunohistochemical features, a final diagnosis of cardiac angiosarcoma with multifoci of lung metastasis was made. Outside pathological consultations agreed with this diagnosis.
Because the clinical presentation of cardiac angiosarcoma can be variable and nonspecific, raising awareness that the vague respiratory symptoms as one of its first presentation can avoid delayed diagnosis.
[N A J Med Sci. 2024;17(1):019-024. DOI: 10.7156/najms.2024.1701019]
Key Words: Cardiac angiosarcoma, vascular neoplasm, lung metastasis, malignant tumo
Atypical Ductal Hyperplasia of the Breast: A Comprehensive Review
Get PDFAtypical Ductal Hyperplasia (ADH) is a histopathological diagnosis frequently encountered in breast tissue biopsies. It stands as a premalignant lesion characterized by cellular proliferation and architectural distortion, positioning itself within the spectrum between benign hyperplasia and ductal carcinoma in situ (DCIS). Notably, ADH bears significant implications for subsequent breast cancer risk. This review delves into the clinical significance, histological features, and molecular alterations of ADH, delving into its association with future breast cancer risk, optimal management approaches, and the impact on patient care. Continued research and collaboration are imperative for optimizing patient care. Throughout this discussion, current research findings are corroborative, underscoring the critical need for precise diagnosis and tailored follow-up to enhance patient outcomes. [N A J Med Sci. 2023;16(1):006-013. DOI: 10.7156/najms.2023.1601006
Basal Cell Adenoma of the Parotid Gland: A Case Report and Review of the Literature
Get PDFBasal cell adenoma (BCA) is a rare benign biphasic epithelial neoplasm of salivary gland composed of basaloid cells and inner ductal epithelial cells. Here, we present a case of a 25-year-old man with a long-standing history of swelling of the left side of the cheek. The specimen was sent for intraoperative frozen section consultation. The tumor appeared to be solid and cystic with a thin capsule and was composed of a biphasic basaloid cells forming tubular and trabecular glands, and fibromyxoid stroma. The differential diagnosis in this case encompasses a broad spectrum of biphasic salivary gland epithelial neoplasms, including benign basal cell adenoma, pleomorphic adenoma, and malignant adenoid cystic carcinoma and basal cell adenocarcinoma. To enhance our proficiency in intraoperative consultation and final diagnosis of biphasic basaloid neoplasms of the salivary gland, we present this rare case along with a comprehensive review of the literature. [N A J Med Sci. 2023;16(1):001-005. DOI: 10.7156/najms.2023.1601001] Key Words: Basal cell adenoma, Parotid gland, Differential diagnosi
A Unique Case of Chronic Myeloid Leukemia Relapsing as an Isolated Blast Phase in the CNS and Literature Review
Get PDFChronic myeloid leukemia (CML) is one of the most common hematologic malignancies characterized by the Philadelphia chromosome and pathogenic fusion protein BCR-ABL1. CML is considered a treatable malignancy with a favorable outcome. However, one of the familiar and often fatal sequelae of this disease, is when the chronic phase leukemia evolves into the blast phase in the peripheral blood or bone marrow, or in extramedullary proliferation of blasts with myeloid or less commonly lymphoid differentiation. Extramedullary blast phase of CML is a rare phenomenon. Here, we report a case of a patient with CML, BCR-ABL1–positive, who had achieved hematologic and cytogenetic remission, who presented with neurological symptoms including dizziness, weakness, and headache. An MR of the brain showed diffuse cerebral and cerebellar leptomeningeal enhancement, and small regions of parenchymal enhancement in the left frontal lobe. A brain biopsy of an area of leptomeningeal enhancement showed a leptomeningeal infiltrate of blasts and immature myeloid cells, weakly positive for myeloid markers such as myeloperoxidase, CD117 and CD68, and was negative for CD3, PAX-5 and CD20. Fluorescent in-situ hybridization performed using dual fusion was positive for BCR-ABL1 translocation in the leptomeningeal infiltrate, indicative of a t(9;22) involving these two genes. The patient is being treated with intrathecal chemotherapy at the time of this report. This case documents an unusual presentation of known sequelae of CML. Awareness of this phenomenon will help us diagnose and manage this complication in the future.[N A J Med Sci. 2023;16(1):014-018. DOI: 10.7156/najms.2023.1601014] Key Words: Chronic myeloid leukemia, Blast crisis, Acute leukemia, Blood cancer, Malignanc
Preferentially Expressed Antigen in Melanoma (PRAME) Staining on Eyelid Skin: Comparison with SOX-10 Immunohistochemistry to Establish a Normal Baseline for Evaluating Periocular Melanoma Specimens
Get PDFThe management of periocular melanoma is fraught with difficulty because of the desire to conserve tissue while at the same time ensuring complete removal of neoplastic cells. Chronically sun damaged skin of the face and eyelids is associated with melanocytic hyperplasia that can complicate the histologic interpretation of clear margins. The SRY-Box Transcription Factor 10 (SOX-10) gene is relatively specific for melanocytes within the epidermis but does not differentiate between benign and malignant melanocytes. Preferentially expressed antigen in melanoma (PRAME) is a relatively new marker that may be useful in differentiating benign from malignant melanocytic proliferations. Our aim was to determine baseline staining for PRAME compared to SOX-10 on eyelid skin that does not contain melanoma or junctional melanocytic proliferation to guide margin assessment. We performed a retrospective review of histopathologic specimens of the eyelid. The most recent fifty specimens that did not include a diagnosis of melanoma or a junctional melanocytic proliferation with ≥ 1 mm of normal epidermis were included (n = 50). The first 1 mm of epidermis with a relatively flat surface from the left margin of the skin sample was assessed, and the mean number of cells in the 1 mm window that stained positive for PRAME and SOX-10 was counted. There were on average 28.06 more SOX-10-stained cells than PRAME-stained cells (95% CI 24.83 - 31.29, p < 0.0001). Although SOX-10 staining intensity varied considerably in normal eyelid tissue, PRAME staining was minimal and did not exceed 3 cells and may be more likely with increased age. When PRAME staining is sustained at a rate higher than 3/mm, melanoma in situ should be considered and additional analysis may be warranted. Expression of PRAME detected by immunohistochemical staining can aid in the diagnosis of melanoma arising in a precursor nevus, primary acquired melanosis of the conjunctiva, and conjunctival melanoma.[N A J Med Sci. 2022;15(1):008-012. DOI: 10.7156/najms.2022.1501008] Key Words: Melanoma in situ; lentigo maligna; immunohistochemistry; eyelid; Preferentially expressed Antigen in Melanoma (PRAME); margin; excision; SOX-10; junctional melanocytic proliferation; melanocyte; immunohistochemistr