Search Results (5)

Background/Objectives: Splenectomy leads to a high rate of remission in chronic primary immune thrombocytopenia (ITP), but its unpredictable long-term positive outcomes and that it is a irreversible surgical approach discourage clinicians and patients. The identification of predictors of response may redefine the timing of splenectomy. In this retrospective, multicentric study we aimed to investigate clinical–histological predictors of splenectomy response in ITP patients and provide an easy-to-use score to predict splenectomy response in ITP. Methods: We considered a discovery set (n = 17) and a validation set (n = 30) of adult ITP patients, who underwent splenectomy for refractory disease in three Italian referral centers for ITP. Results: We found that the presence of autoimmune comorbidities, daily steroid dose prior to splenectomy, age at diagnosis and age at splenectomy were significantly associated with the outcome. Variables singly associated with an adverse outcome were combined into a clinical and a clinical–pathological score, allowing us to define a “high-risk” group which accounted for about 80% of the disease relapses observed in this cohort. At the same time, a certain clinical–pathological score indicated a “high-risk” group characterized by significantly poorer outcomes. Results were confirmed in the validation cohort. Conclusions: An integrated set of clinical and histological parameters may predict the response to splenectomy in ITP patients. While these findings provide valuable insights, they were derived from a small cohort of patients and therefore require validation in larger, more diverse populations to ensure their generalizability and robustness. Full article

Aim of the report: Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke–Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke–Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1. Full article

The disease course of chronic lymphocytic leukemia (CLL) is frequently characterized by the occurrence of various complications, such as second primary cancer, which can impact patients’ prognoses. While therapies for CLL have evolved tremendously in the past decades, overlooking the possibility of rare neoplasms that arise along with CLL may hinder the benefit that these therapies grant to patients. Moreover, the ability of newer therapies to alter the landscape of these complications is still largely unknown. Primary myelofibrosis (PMF) is not commonly associated with CLL, with only a few cases reported in the literature, with little information regarding the clinico-biological features and the optimal management for these associated conditions. Here, we report two unusual cases of PMF that occurred a few months after the start of therapy for CLL with targeted agents (ibrutinib and venetoclax). Both cases represented a diagnostic and therapeutic challenge, underscoring the need for clinicians to remain vigilant about the possible co-occurrence of these two hematological malignancies, especially in the era of targeted therapy for CLL. Full article

Follicular lymphoma (FL) is one of the most common B-cell malignancies worldwide. While the diagnosis of conventional cases is straightforward, rare clinical–pathological variants may be challenging due to their misleading morphology, aberrant phenotype and/or atypical presentation. To add to the spectrum of unusual FLs, we report on a rare disease pattern characterized by (i) inguinal presentation, (ii) massive necrosis, (iii) Hodgkin/Reed–Sternberg (HRS)-like cells, and (iv) adjacent areas of diffuse large B-cell lymphoma evolution. All cases occurred in elderly patients (median age at diagnosis: 69.5 years), disclosed a low stage at diagnosis (Ann Arbor stage IA-IIA), and had deceiving clinical features. Despite the alarming histology, excellent responses to conventional therapies were reported in all patients. In conclusion, necrotizing FL of the inguinal region is a rare neoplasm characterized by peculiar clinical and histological features. This lymphoma should always be considered in the differential diagnosis of massively necrotic inguinal lesions. Full article

The Covid-19 pandemic led to lockdowns in several parts of the world and, hence, changed some daily habits, including social interactions, the ability to perform sports, and—possibly—diet. The Italian government established and promulgated lockdown policies on 9 March 2020. We aim at assessing the effects of Covid-19-induced confinement policies on self-reported food consumption of self-selected Italians by means of a questionnaire that was created and diffused by the Internet. Nearly half, i.e., 49.6% of responders did not substantially modify their diet during the lockdown; however, 46.1% of them reported that they were eating more during confinement, and 19.5% gained weight. In particular, we report an increase in “comfort food” consumption, notably chocolate, ice-cream, and desserts (42.5%) and salty snacks (23.5%). In addition, 42.7% percent of this cohort attributed this increase to higher anxiety levels. Related to this, 36.8% of responders reported a decrease in alcohol consumption, even though 10.1% of them reported an increase. Interestingly, 21.2% of responders increased their consumption of fresh fruit and vegetables. Only 33.5% of those who declared decreased consumption attributed this change of diet to lower availability and ease of purchasing such items. Equally interesting, over half of responders, i.e., 56.2%, admitted that fruit and vegetables did not appeal to them while in lockdown. Purchases of ready-made meals were reduced by nearly 50%. Future large-scale similar studies should be undertaken worldwide and will help public health authorities shape their reactions to future, unavoidable pandemics. Full article