Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy

Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle tissue. We report the case of a middle-aged man under enzyme replacement therapy presenting with an exceedingly large thoracic aortic aneurysm. Surprisingly, the histological work-up of resected aortic tissue revealed changes mimicking those observed in patients with classic connective tissue diseases. Enzyme replacement therapy, in addition to musculoskeletal and pulmonary treatment for patients with Pompe's disease, may prolong survival and lead to patients presenting with vascular alterations that may pose surgical and potential diagnostic challenges in the futur

Posttraumatic Vascular Anomalies in Hand Surgery-A Case-based Approach.

The field of vascular anomalies (VA) has been subject to changes during the last few decades. The current classification of the International Society for the Study of Vascular Anomalies (ISSVA) offers a simple diagnostic structure. Hand surgeons commonly appear to have limited exposure to VA. Already recognized for more than 120 years, pyogenic granuloma (PG) is by far the most commonly described VA by different disciplines with accordingly diverse treatment strategies and theories behind it. Arteriovenous fistula (AVF), venous aneurysms (VAN), and venous malformations (VM) are, however, rare in hand surgery. With a compilation of four illustrative cases of posttraumatic entities such as AVF, VAN, VM, and PG, we would like to highlight possible daily exposure to VA in the general hand surgery practice. We discuss diagnostic and therapeutic options as well as the current literature with focus on posttraumatic VA

An unusual pseudolymphoma in the context of necrotizing fasciitis: A case report.

RATIONALE The diagnosis of lymphoma in routine diagnostics can be challenging due to clinical, morphological and immunphenotypical overlap with unusual reactive processes termed "pseudolymphomas." PATIENT CONCERNS 45-year-old male that underwent surgical debridement for a necrotizing fasciitis of the thigh with concomitant excision of a regional lymph node. DIAGNOSES The lymph node demonstrated an architecture-effacing activation and proliferation of lymphoblasts and was initially misdiagnosed as an aggressive lymphoma. Only in consideration of the clinical context and with the help of additional immunohistochemical and molecular analyses the final diagnosis of a reactive lymphadenopathy could be made. INTERVENTIONS No further therapy was required after the final diagnosis of a reactive lymphadenopathy was made. OUTCOMES The clinical follow-up was unremarkable, with no evidence of residual disease after 6 months. LESSONS This case report adds the parafollicular activation and proliferation of blasts and plasmablasts in the drainage area of an active infection to the spectrum of "pseudolymphomas" and reiterizes the importance of placing histopathological findings in the proper context

Challenges in the diagnosis of marginal zone lymphoma with symptoms of small intestinal disease: a case report and scoping review of the literature.

Background Marginal zone lymphoma can be accompanied by symptoms of small intestinal disease including abdominal pain and malabsorption. However, the best diagnostic approach for suspected marginal zone lymphoma is unknown and intestinal biopsies are frequently negative. We describe the case of a patient with symptoms of small bowel involvement where marginal zone lymphoma could only be detected upon peripheral lymph node resection. To assess the clinical variability of intestinal marginal zone lymphoma as a rare clinical entity, a scoping review with systematic literature research was performed. Methods A 57-year-old man presented with a 10-year history of postprandial abdominal pain, systemic inflammation and recent weight loss. Endoscopies and a surgical small bowel specimen revealed non-specific findings. Flow cytometry from the bone marrow was highly suspicious for marginal zone lymphoma. A 2-18F-fluorodeoxyglucose-positron emission tomography/computed tomography (2-18F-FDG-PET/CT) showed hypermetabolic lymph nodes on both sides of the diaphragm. Cervical lymph node dissection finally confirmed marginal zone lymphoma. Immunochemotherapy yielded lasting oncological remission and resolved symptoms. We searched PubMed, Embase and Ovid MEDLINE® for additional case reports limited to the last 25 years. Five primary search terms combined using "AND" were used freely and as controlled vocabulary. Additional studies were identified by reviewing the reference lists of included articles. Results Our review revealed 52 cases of marginal zone lymphoma with small intestinal manifestation. Patients presented with abdominal pain, bowel obstruction, weight loss or gastrointestinal bleeding. Diagnosis was mainly established by surgery (73%). The most frequent endoscopic findings were mucosal erosions and ulcerations. A 2-18F-FDG-PET/CT was positive in 9/15 patients. Treatment included rituximab, chemotherapy, surgery and/or radiation resulting in clinical remission in 82% of cases. Conclusions Diagnostic workup for suspected small intestinal marginal zone lymphoma is challenging, necessitating a multidisciplinary approach. Endoscopy, imaging including 2-18F-FDG-PET/CT and small bowel resection or dissection of hypermetabolic lymph nodes can be useful. If marginal zone lymphoma is suspected vigorous diagnostic efforts are justified since remission can be achieved in most patients. Our review highlights the variable clinical presentation of this underdiagnosed disease and adds systematic data to the literature

Glofitamab Treatment in Relapsed or Refractory DLBCL after CAR T-Cell Therapy.

Chimeric antigen receptor T-cells (CAR T) treatment has become a standard option for patients with diffuse large B-cell lymphomas (DLBCL), which are refractory or relapse after two prior lines of therapy. However, little evidence exists for treatment recommendations in patients who relapse after CAR T-cell treatment and the outcome for such patients is poor. In this study, we evaluated the safety and efficacy of a monotherapy with the bispecific CD20xCD3 antibody glofitamab in patients who progressed after CAR T treatment. We report nine consecutive patients with progressive DLBCL after preceding CAR T-cell therapy. The patients received a maximum of 12 cycles of glofitamab after a single obinutuzumab pre-treatment at an academic institution. CRS was observed in two patients (grade 2 in both patients). We observed an overall response rate of 67%, with four patients achieving a complete response and a partial remission in two patients. Interestingly, we identified increased persistence of circulating CAR T-cells in peripheral blood in three of the five patients with measurable CAR T-cells. Our data suggest that glofitamab treatment is well tolerated and effective in patients with DLBCL relapsing after CAR T-cell therapy and can enhance residual CAR T-cell activity

Outcome of Patients with Diffuse Large B-Cell Lymphoma Relapsing after Autologous Transplant before Availability of CAR-T Cell Treatment.

INTRODUCTION Autologous stem cell transplantation (ASCT) following high-dose chemotherapy is applied as salvage therapy in patients with relapsed disease or as first-line consolidation in high-risk DLBCL with chemo-sensitive disease. However, the prognosis of relapsing DLBCL post-ASCT remained poor until the availability of CAR-T cell treatment. To appreciate this development, understanding the outcome of these patients in the pre-CAR-T era is essential. METHODS We retrospectively analyzed 125 consecutive DLBCL patients who underwent HDCT/ASCT. RESULTS After a median follow-up of 26 months, OS and PFS were 65% and 55%. Fifty-three patients (42%) had a relapse (32 patients, 60%) or refractory disease (21 patients, 40%) after a median of 3 months post-ASCT. 81% of relapses occurred within the first year post-ASCT with an OS of 19% versus 40% at the last follow-up in patients with later relapses (p=0.0022). Patients with r/r disease after ASCT had inferior OS compared to patients in ongoing remission (23% versus 96%; p<0.0001). Patients relapsing post-ASCT without salvage therapy (n=22) had worse OS than patients with 1-4 subsequent treatment lines (n=31) (OS 0% versus 39%; median OS 3 versus 25 months; p<0.0001). Forty-one (77%) of patients relapsing after ASCT died, 35 of which due to progression. CONCLUSIONS Additional therapies can extend OS but mostly cannot prevent death in DLBCL relapsing/refractory post-ASCT. This study may serve as a reference to emerging results after CAR-T treatment in this population

Regional Radiation Pneumonitis After SIRT of a Subcapsular Liver Metastasis: What is the Effect of Direct Beta Irradiation?

We herein present a patient undergoing selective internal radiation therapy with an almost normal lung shunt fraction of 11.5 %, developing histologically proven radiation pneumonitis. Due to a predominance of pulmonary consolidations in the right lower lung and its proximity to a large liver metastases located in the dome of the right liver lobe a Monte Carlo simulation was performed to estimate the effect of direct irradiation of the lung parenchyma. According to our calculations direct irradiation seems negligible and RP is almost exclusively due to ectopic draining of radioactive spheres