Distinct B/myeloid and T-lymphoblast populations at separate anatomic sites in mixed-phenotype acute leukemia with BCR::ABL1 fusion

Journal of Hematopathology · 2025-09-22

Clear Cell Carcinoma in Tuberous Sclerosis Complex: Case Report and Review of the Literature

International Journal of Medical Science and Clinical Research Studies · 2025-11-04

BACKGROUND: Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by a mutation in either the TSC1 or TSC2 genes, with a global incidence ranging from 1 in every 6,000 to 10,000 newborns. Its pathophysiological mechanism is not fully understood; however, it is known that the TSC1 and TSC2 genes encode the proteins hamartin and tuberin, which form a complex that regulates mTOR, considered a key pathway in controlling cell growth. Clinical manifestations include cutaneous, neurological, cardiac, and renal abnormalities, among which the development of benign and/or malignant renal tumors stands out—particularly angiomyolipoma or clear cell renal carcinoma. CLINICAL CASE: A 31-year-old male patient presented to the emergency department with generalized abdominal pain (VAS 8/10) radiating to the right iliac fossa, unresponsive to analgesics, and accompanied by changes in bowel habits, fever, and a 20-kilogram weight loss over one month. A diagnostic work-up was performed, documenting a right renal tumor. CONCLUSIONS: Tuberous Sclerosis Complex (TSC) is known to predispose individuals to the formation of benign tumors in any organ of the body, with corresponding clinical consequences. However, the development of clear cell renal carcinoma is a rare finding, as most renal tumors in these patients t

A Case Report of <i>Bartonella henselae</i> -Related New-Onset Refractory Status Epilepticus / Febrile Infection–Related Epilepsy Syndrome Complicated With Stimulus-Induced Rhythmic, Periodic, or Ictal Discharges

Journal of Child Neurology · 2025-10-22

Febrile infection-related epilepsy syndrome (FIRES) is a subtype of new-onset refractory status epilepticus (NORSE) characterized by the prodrome of fever. Bartonella henselae ( B henselae ), known to cause various neurological complications, has been implicated in new-onset refractory status epilepticus/febrile infection-related epilepsy syndrome in some cases. We report a case of a 7-year-old male with autism spectrum disorder who developed new-onset refractory status epilepticus/febrile infection-related epilepsy syndrome. Initial treatments included antiseizure medications and anesthetics for refractory status epilepticus. Despite these measures, seizure control remained suboptimal, necessitating immunotherapy with methylprednisolone and intravenous immunoglobulin, as well as rifampin and doxycycline after serologic confirmation of B henselae . The hospital course was complicated by stimulus-induced rhythmic, periodic, or ictal discharges but did not negatively impact the overall outcome. We present a patient with suspected Bartonella -related new-onset refractory status epilepticus/febrile infection-related epilepsy syndrome with remarkable outcomes after immunotherapy and antibiotics.

Lymphoproliferative Disorders Mimicking Rheumatologic Disease: A Clinical Reasoning Perspective

Current Allergy and Asthma Reports · 2025-09-16 · 1 citations

Concomitant Waldenström Macroglobulinemia/Lymphoplasmacytic Lymphoma and Non–Immunoglobulin M Plasma Cell Neoplasm: A Report of 14 Cases With Laboratory Evidence of Biclonal B-Cell Neoplasms in Individual Patients

Archives of Pathology & Laboratory Medicine · 2025-01-12 · 1 citations

CONTEXT.—: The co-occurrence of plasma cell neoplasm (PCN) and lymphoplasmacytic lymphoma (LPL) is rare, and their clonal relationship remains unclear. OBJECTIVE.—: To evaluate the clinicopathologic characteristics of concomitant LPL/PCN. DESIGN.—: Retrospectively analyzed clinical and laboratory data of 14 cases. RESULTS.—: Three patients initially presented with immunoglobulin (Ig) M paraprotein, 1 with IgG paraprotein, and 10 had simultaneous diagnoses of PCN and LPL. In 13 cases, flow cytometry detected both LPL and PCN in marrow biopsies. Furthermore, immunohistochemistry highlighted the 2 neoplastic populations, demonstrating an increased proportion of plasma cells and their expression of cyclin D1, CD56, and/or a non-IgM isotype restriction. All cases exhibited discordant heavy-chain isotypes between LPL and PCN. Thirteen of the 14 cases (92.9%) had concordant light-chain restrictions between the 2 neoplasms, and the remaining case (7.1%) showed discordant light-chain restrictions. Of the 12 patients with follow-up, 5 were treated with myeloma regimens, 2 with LPL regimens, 3 with combined therapy, and 2 with observation alone. Follow-up ranged from 2 to 146 months (median, 12.5 months). One patient died of PCN progression, one died of comorbidity, and 10 patients were alive with or without disease. Survival analysis showed no significant difference from the control. CONCLUSIONS.—: The discordant heavy-chain isotype restrictions between PCN and LPL suggest biclonal B-cell neoplasms, which is supported by PCN's phenotypic distinction, such as the expression of cyclin D1 and/or CD56. However, our series exhibited a tendency toward concordant light-chain restrictions between the 2 neoplasms, raising the possibility that PCN may evolve from LPL through class switching.

Anatomy and Surgical Approach to Transurethral Bladder Eversion

Obstetrics and Gynecology · 2025-03-28 · 1 citations

INTRODUCTION: Transurethral bladder eversion is a rare occurrence that can present alongside pelvic organ prolapse. The literature on the surgical management of bladder eversion is limited. In this video, we review a case presentation, describe the pertinent anatomy, and outline a surgical approach to correcting transurethral bladder eversion. OBJECTIVE: Our objectives are to review the clinical presentation of a patient with complete transurethral bladder eversion, to understand anatomic considerations related to this condition, and to describe a vaginal approach to surgical correction of transurethral bladder eversion with concurrent procidentia. METHODS: Informed consent was obtained from the patient prior to video recording and image collection. The selected media were edited and arranged to create an educational narrative film, with particular emphasis on key anatomical landmarks. Care was taken to protect the patient's privacy and confidentiality throughout the video creation process. This video is designed for the education of gynecologic surgeons, fellows, and residents. RESULTS: A vaginal surgical approach to transurethral bladder eversion repair is less invasive, especially for patients with multiple medical comorbidities. Primary bladder neck closure and suprapubic tube placement with LeFort colpocleisis is a viable route of surgical repair. CONCLUSIONS: Transurethral bladder eversion is a rare condition and understanding the anatomy is crucial to surgical repair. Careful consideration of surgical approach and shared decision-making are paramount to management.

Leukaemic Effusion or Extramedullary Haematopoiesis?

Cytopathology · 2025-10-15

We describe a case of leukaemic pleural effusion in a patient with acute myeloid leukaemia and marked marrow fibrosis. Cytologic evaluation of the pleural fluid revealed numerous large atypical cells, morphologically consistent with dysplastic megakaryocytes. This case underscores an important diagnostic pitfall, as such findings may be misinterpreted if the possibility of leukaemic infiltration is not considered. It highlights the critical importance of recognising key cytomorphologic features and integrating immunophenotyping, clinical history and radiologic findings to arrive at an accurate diagnosis. Awareness of this potential presentation is essential to avoid misclassification and ensure appropriate clinical management.

<scp>NORSE</scp> secondary to anti‐<scp>GAD65</scp> antibody‐positive encephalitis treated with novel adjunctive rapid titration <scp>VNS</scp> protocol

Epilepsia Open · 2025-01-13 · 2 citations

New Onset Refractory Status Epilepticus (NORSE) is a rare and severe condition characterized by refractory seizures in individuals without a prior history of epilepsy. This case report describes a 37-year-old woman diagnosed with anti-glutamic acid decarboxylase 65 (anti-GAD65) antibody-positive encephalitis-related NORSE. Her seizures were refractory to multiple interventions, including anti-seizure medications, anesthetics, immunotherapies, a ketogenic diet, and electroconvulsive therapy. Seizures recurred twice during the tapering of anesthetic medications. However, after 32 days of treatment, the seizures were successfully controlled. To maintain seizure control and facilitate the weaning of anesthetics, a Vagus Nerve Stimulator (VNS) was implanted using a novel rapid titration protocol. This allowed for the successful tapering of anesthetics by day 50, with no recurrence of seizures. At her 9-month follow-up, the patient remained seizure-free and had an improved quality of life. This case highlights that early initiation of immunosuppressive treatment may lead to a favorable prognosis. The novel application of VNS therapy assisted seizure control in NORSE, thus encouraging further research investigating the potential role of VNS in this condition. PLAIN LANGUAGE SUMMARY: New Onset Refractory Status Epilepticus (NORSE) is a rare and severe condition characterized by relentless seizures in individuals without a prior epilepsy history. This report shares the case of a 37-year-old woman with NORSE, associated with a high anti-glutamic acid decarboxylase 65 antibody titer. Her seizures were super-refractory, requiring multiple anti-seizure medications, anesthetics, immunotherapies, a ketogenic diet, and electroconvulsive therapy. Seizures recurred twice during the tapering of anesthetic medications. However, by hospital day 32, the seizures were successfully controlled with these interventions. To further stabilize seizure control and enable the successful discontinuation of anesthetics, a Vagus Nerve Stimulator (VNS) was implanted. The patient had no further seizures and gradually recovered back to her pre-disease baseline. This case suggests that a novel rapid VNS titration protocol could be a promising treatment option for NORSE, warranting further investigation.

Neonatal blood smear with vacuolated lymphocytes

Blood · 2024-08-08 · 1 citations

An unusual presentation of systemic mastocytosis in a myelolipoma

Blood · 2024-05-02