Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient: case report and literature review.

INTRODUCTION: Primary breast lymphoma (PBL) is rare, and most cases occur in female patients, with few reported cases in male patients. The clinical presentation is similar to that of breast cancer, but the condition needs to be well understood, as treatment options and clinical course vary. Hence, we provide a relatively rare case of primary breast diffuse large B cell lymphoma (PB-DLBCL) in a male, including its complete clinicopathological features, radiological findings, genomic mutational profiles, and clinical course. CASE PRESENTATION: A 45-year-old male presented with a lump in his right breast for 1 week and was pathologically diagnosed with breast malignancy after a breast puncture biopsy at the local hospital. He came to our hospital for further treatment and underwent breast ultrasound and systemic positron emission tomography/computed tomography (PET/CT) imaging, followed by right mastectomy and sentinel lymph node biopsy. Histomorphology showed diffuse hyperplasia of tumor cells with clear boundaries and surrounding normal breast ducts. The adhesion of tumor cells was poor with obvious atypia. Immunohistochemical results showed that the tumor cells were positive for CD20, Bcl6, and MUM-1 but negative for CK (AE1/AE3), ER, PR, CD3, and CD10. Forty percent of the tumor cells were positive for c-Myc, and 80% of tumor cells were positive for Bcl2. The Ki-67 proliferation index was up to 80%. The tumor cells were negative for MYC and BCL2 rearrangements but positive for BCL6 rearrangement by fluorescent in situ hybridization. No abnormality was found in the pathological examination of bone marrow aspiration. Therefore, the male was diagnosed with PB-DLBCL, nongerminal center (non-GCB) phenotype, dual-expression type. The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1). The patient was given six cycles of orelabrutinib plus R-CHOP chemotherapy and two cycles of intrathecal injection of cytarabine. The last follow-up was on April 13, 2023 (17 months). No recurrence or metastasis was found in laboratory and imaging examinations. CONCLUSION: We reported a relatively rare PB-DLBCL in a male, non-GBC phenotype, dual-expression type. It is worth mentioning that this case had IgH/BCL6 fusion, nonsense mutations in TNFAIP3, frameshift mutations in PRDM1, and missense mutations in CREBBP, DTX1, and FOXO1. To the best of our knowledge, this case is the first report of genomic mutational profiles of PB-DLBCL in males.

Relapse of Low Back Pain After Internal Lumbar Fixation Was Diagnosed with SAPHO Syndrome: A Case Report.

Introduction: Early diagnosis of SAPHO syndrome is easily confused with other common spine-related diseases and infections. There is currently no consensus regarding the diagnosis of SAPHO syndrome, and specific treatments are empirical because of its rarity. Case Presentation: A 62-year-old woman was referred to our department with complaints of low back and lower extremity pain for 2 years, 1.5 years after lumbar spine surgery, and recurrent low back pain for 1 year. Laboratory test results revealed elevated hs-CRP levels and erythrocyte sedimentation rate. Combined with her surgical history and lumbar CT results, adjacent segment degeneration (ASD) was first considered. NSAIDs, analgesics, and supplemental therapies were also administered. However, the patient's symptoms were not significantly relieved. During re-examination, hyperkeratosis with active pustulosis was observed on the patient's palms. Osteitis of the left sacroiliac joint was revealed on imaging. Skeletal ECT revealed a typical "horn sign". The patient was diagnosed with SAPHO syndrome. Based on the original treatment, sulfasalazine enteric-coated tablets, adalimumab (a biological agent of TNF-α), pregabalin, and tramadol sustained-release tablets were administered. The patient reported that her pain was significantly relieved. He was discharged from the hospital and received adalimumab treatment (40 mg once per fortnight in the first 6 months and 40 mg once per month after month 6) in the outpatient clinic. The hyperkeratosis with active pustulosis on both palms fully recovered after 12 months of treatment. The patient was followed up 6 months after full recovery, and no recurrence was found in the symptoms of low back and lower extremity pain and palmar hyperkeratosis with active pustulosis. Conclusion: SAPHO syndrome should be suspected in patients present with osteoarticular and/or dermatological manifestations. Biological agents can be used to treat patients with refractory SAPHO syndrome.

Preoperative CT-Based Radiomics Combined With Nodule Type to Predict the Micropapillary Pattern in Lung Adenocarcinoma of Size 2 cm or Less: A Multicenter Study.

PURPOSE: To construct an optimal radiomics model for preoperative prediction micropapillary pattern (MPP) in adenocarcinoma (ADC) of size ≤ 2 cm, nodule type was used for stratification to construct two radiomics models based on high-resolution computed tomography (HRCT) images. MATERIALS AND METHODS: We retrospectively analyzed patients with pathologically confirmed ADC of size ≤ 2 cm who presented to three hospitals. Patients presenting to the hospital with the greater number of patients were included in the training set (n = 2386) and those presenting to the other two hospitals were included in the external validation set (n = 119). HRCT images were used for delineation of region of interest of tumor and extraction of radiomics features; dimensionality reduction was performed for the features. Nodule type was used to stratify the data and the random forest method was used to construct two models for preoperative prediction MPP in ADC of size ≤ 2 cm. Model 1 included all nodule types and model 2 included only solid nodules. The receiver operating characteristic curve was used to assess the prediction performance of the two models and independent validation was used to assess its generalizability. RESULTS: Both models predicted ADC with MPP preoperatively. The area under the curve (AUC) of prediction performance of models 1 and 2 were 0.91 and 0.78, respectively. The prediction performance of model 2 was lower than that of model 1. The AUCs in the external validation set were 0.81 and 0.72, respectively. The DeLong test showed statistically significant differences between the training and validation sets in model 1 (p = 0.0296) with weak generalizability. There was no statistically significant difference between the training and validation sets in model 2 (p = 0.2865) with some generalizability. CONCLUSION: Nodule type is an important factor that affects the performance of radiomics predictor model for MPP with ADC of size ≤ 2 cm. The radiomics prediction model constructed based on solid nodules alone, can be used to evaluate MPP and may contribute to proper surgical planning in patients with ADC of size ≤ 2 cm.