N-Acetylcistein for thrombotic thrombocytopenic purpura: an observational case series study.

Acquired thrombotic thrombocytopenic purpura (TTP) is a life-threatening disorder. N-Acetylcysteine (NAC) rapidly degrades ultra-large von Willebrand factor multimers by disrupting the disulfide bonds. We report a series of twelve consecutive patients diagnosed with acquired TTP successfully treated with high-dose NAC (150 mg/kg/day) in combination with plasma exchange and steroids.

Pseudothrombocytopenia, beyond a laboratory phenomenon: study of 192 cases.

The platelet antibodies that cause pseudothrombocytopenia (PTCP) act only in vitro and do not produce clinical bleeding. Most studies on PTCP have focused on improving differential diagnosis with true thrombocytopenia but studies on the characteristics of patients with PTCP are limited. In this study, we aimed to evaluate the clinical and biological characteristics of 192 patients with PTCP.

Role of allogeneic hematopoietic cell transplant for relapsed/refractory aggressive B-cell lymphomas in the CART era.

Anti-CD19 chimeric antigen receptor T cells (CART) has rapidly been adopted as the standard third-line therapy to treat aggressive B-cell lymphomas (ABCL) after failure of second-line therapy despite the lack of direct comparisons with allogeneic hematopoietic cell transplantation (alloHCT)-based strategies. Using the Grupo Español de Trasplante y Terapia Celular (GETH-TC) registry, we selected patients with the following characteristics: CART or alloHCT performed between 2016 and 2021; ≥18 years old; ABCL diagnosis; ≥2 lines of therapy; and either anti-CD19 CART or alloHCT as therapy at relapse. The analysis included a total of 316 (CART = 215, alloHCT = 101) patients.

Allogeneic Stem Cell Transplantation in Mantle Cell Lymphoma; Insights into Its Potential Role in the Era of New Immunotherapeutic and Targeted Therapies: The GETH/GELTAMO Experience.

Allo-SCT is a curative option for selected patients with relapsed/refractory (R/R) MCL, but with significant NRM. We present the long-term results of patients receiving allo-SCT in Spain from March 1995 to February 2020. The primary endpoints were EFS, OS, and cumulative incidence (CI) of NRM, relapse, and GVHD.

Fanconi-like anemia related to a FANCM mutation.

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions. The diagnosis of Fanconi anemia is primarily based on the chromosomal breakage but FA gene sequencing is recommended in all patients with a positive chromosome fragility test.

Allogeneic stem cell transplantation as a curative option in relapse/refractory diffuse large B cell lymphoma: Spanish multicenter GETH/GELTAMO study.

We performed a retrospective multicenter study including 140 patients with relapsed/refractory (R/R) diffuse large B cell lymphoma (DLBCL) who underwent allogeneic hematopoietic stem cell transplantation (allo-SCT) from March 1995 to November 2018. Our objective was to analyze long term outcomes. Seventy-four percent had received a previous auto-SCT (ASCT) and the median number of lines pre-allo-SCT was 3 (range 1-9).

Carfilzomib and dexamethasone for extramedullary myeloma with pleuropericardial involvement.

The dismal outcome of pleuropericardial extramedullary multiple myeloma (EMM) reflects both the selection of resistant disease and absence of useful drugs. Carfilzomib and dexamethasone should be explored in advanced EMM patients, even for bortezomib-resistant patients, as may provide much longer overall survival than previously reported treatments.

Rituximab response in follicular lymphoma is associated with the rs20575 polymorphism in TRAILR1 extrinsic apoptosis trigger.

Objective: Rituximab in combination with chemotherapy has been proven to increase progression-free and overall survival in follicular lymphoma (FL), but there is considerable interindividual variability in the response. Extrinsic pathway apoptosis triggered by death receptors seems to be involved in the mechanism of action of monoclonal antibodies. This study aimed to assess the association between TRAILR1/TRAIL polymorphisms (rs20575, rs20576, rs2230229, rs12488654) and rituximab response and the relationship with FASL rs763110, previously found to be associated with rituximab response.

Association of polymorphisms in TRAIL1 and TRAILR1 genes with susceptibility to lymphomas.

The TRAILR1/TRAIL system is implicated in the induction of the extrinsic apoptotic pathway and constitutes an emerging target in cancer therapeutics. The objective of this study is to assess lymphoma risk associated with certain polymorphisms in TRAILR1 and TRAIL1 genes. DNA was extracted from 381 subjects (190 lymphoma cases and 191 matched controls) and genotyped for polymorphisms rs20576, rs2230229 and rs20575 in TRAILR1 and rs12488654 in TRAIL gene.

Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study.

Background: The interplay between genetic susceptibility and carcinogenic exposure is important in the development of haematopoietic malignancies. EPHX1, NQO1 and PON1 are three genes encoding proteins directly involved in the detoxification of potential carcinogens.

Methods: We have studied the prevalence of three functional polymorphisms affecting these genes rs1051740 EPHX1, rs1800566 NQO1 and rs662 PON1 in 215 patients with lymphoma and 214 healthy controls.

First report of a medullar cord compression secondary to osseous plasmacytoma successfully treated with bortezomib and dexamethasone.

Medullar cord compression secondary to osseous plasmacytomas affecting the vertebrae is an oncological emergency. A 75-year-old woman with recurrent osseous plasmacytomas and thoracic spinal cord compression, previously treated with radiotherapy, was successfully treated with bortezomib and dexamethasone. Three years later, when the plasmacytoma and spinal cord compression relapsed, she was retreated with the same therapeutic scheme, achieving a new complete clinical remission.

Bone-marrow immunophenotypic analysis allows the identification of high risk of progression and immune condition-related monoclonal gammopathy of undetermined significance.

Background: Monoclonal gammopathy of undetermined significance (MGUS) progresses to plasma cell dyscrasia at a rate of 1% per year. A high prevalence of MGUS has been noted in series of patients with immune disorders or chronic infections.

Methods: Retrospective cohort and a cross-sectional study to analyze the prognostic value of aberrant (CD38(+ +)CD138(+) CD19(-)CD45(weak)) to normal phenotype (CD38(+ +)CD138(+) CD19(+)CD45(+)) bone-marrow plasma cells ratio (A/N ratio) for the development of a plasma cell dyscrasia and the association with the presence of a chronic immune disorder.

[Bladder urothelial carcinoma stage T1: substaging, invasion morphological patterns and its prognosis significance].

Since 1990 when the first series on substaging were published, they have published numerous publications on the invasion sublevel of high degree T1 carcinomas. The deep invasion entails a high risk of progression (around 30-35% of cases progress) as opposed to the cases of superficial invasion over "muscularis mucosae", in which the progression is around 10%, reason why most authors consider subT1, in patient management. In this revision the more exhaustive series that have evaluated substaging are shown and also the different methods to carry out this staging considering the inherent difficulty to the samples that come from transurethral resection (RTU).

Urinary retention secondary to presacral myelolipoma; first reported case diagnosed by prostate TUR and requiring a cystectomy.

Obstructive voiding symptoms may exceptionally be caused by extrinsic compression. We herein present a singular case of a 68-year-old male that presented with urinary retention and underwent prostate trans-urethral resection (TUR) with histology showing benign prostatic hyperplasia admixed with large amounts of myelolipoma tissue. To the best of our knowledge this is the first reported presacral myelolipoma diagnosed at prostate trans-urethral resection (TUR).

Initial high-grade T1 urothelial cell carcinoma: feasibility and prognostic significance of lamina propria invasion microstaging (T1a/b/c) in BCG-treated and BCG-non-treated patients.

Objectives: This study aimed to determine the prognostic value of depth of lamina propria invasion in initial high-grade T1 bladder tumors. Secondary aims were to evaluate the prognostic significance of concomitant carcinoma in situ (CIS) and the impact of bacillus Calmette-Guérin (BCG) treatment as well as to assess the feasibility of microstaging by pathologists in a community setting.

Patients And Methods: Ninety-seven tumors were available for study and were substaged according to invasion superficial to, into or beyond the muscularis mucosae (MM) (T1a, T1b, T1c).

Renal collecting (Bellini) duct carcinoma displays similar characteristics to upper tract urothelial cell carcinoma.

Objectives: To describe 3 cases of tumors located in the kidney that may relate collecting (Bellini) duct carcinoma (CDC) to urothelial cell carcinoma (UC). We hypothesized that these distinct tumor types may share a common origin. CDC is a subtype of renal cell carcinoma associated with a highly aggressive course, poor prognosis, and limited response to immunotherapy, behaving similarly to UC.

Zoledronate-induced remission of acute panmyelosis with myelofibrosis.

Acute panmyelosis with myelofibrosis is a rare and aggressive form of acute myeloid leukemia. We describe a new case with a huge proliferation of megakaryocytes, blast cells and reticulin fibers. The patient was treated with zoledronate, a third-generation bisphosphonate, and a gradual recovery from pancytopenia was observed.

Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders.

Background And Objectives: MYH9-related disorders are autosomal dominant hereditary macrothrombocytopenias caused by mutations in the MYH9 gene. This gene encodes the non-muscular myosin heavy chain type II A (MHCIIA). Among these disorders, May-Hegglin anomaly (MHA), Sebastian syndrome (SS), and Fechtner syndrome (FS) are associated with different types of ribosome inclusions in granulocytes.