Clinical and prognostic impact of STAG2 mutations in myeloid neoplasms: the Mayo Clinic experience.
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SUBMITTER: Katamesh B
PROVIDER: S-EPMC10139934 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
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Clinical and prognostic impact of STAG2 mutations in myeloid neoplasms: the Mayo Clinic experience.
Katamesh Bahga B Nanaa Ahmad A He Rong R Viswanatha David D Nguyen Phuong P Greipp Patricia P Bessonen Kurt K Gangat Naseema N Begna Kebede K Mangaonkar Abhishek A Patnaik Mrinal M Hogan William J WJ Tefferi Ayalew A Litzow Mark M Shah Mithun Vinod MV Yi Cecilia Arana CA Foran James J Badar Talha T Alkhateeb Hassan B HB Al-Kali Aref A
Blood advances 20230401 8
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Project description:Between 2004 and 2017, a total of 1123 adult patients (median age 65 years; 61% males) with newly diagnosed acute myeloid leukemia (AML), not including acute promyelocytic leukemia, were seen at the Mayo Clinic. Treatment included intensive (n = 766) or lower intensity (n = 144) chemotherapy or supportive care (n = 213), with respective median survivals of 22, 9, and 2 months (p < 0.01). Intensive chemotherapy resulted in complete remission (CR) and CR with incomplete count recovery (CRi) rates of 44 and 33%, respectively, with no difference in survival outcome between the two (p = 0.4). Allogeneic hematopoietic stem cell transplant (AHSCT) was documented in 259 patients and provided the best survival rate (median 55 months; p < 0.01). After a median follow-up of 13 months, 841 (75%) deaths were recorded. Multivariate analysis identified age >60 years (HR 2.2, 1.9-2.6), adverse karyotype (HR 2.9, 1.9-4.9), intermediate-risk karyotype (HR 1.6, 1.02-2.6), post-myeloproliferative neoplasm AML (HR 1.9, 1.5-2.4), and other secondary AML (HR 1.3 (1.1-1.6) as risk factors for shortened survival. These risk factors retained their significance after inclusion of FLT3/NPM1 mutational status in 392 informative cases: FLT3+NPM1- (HR 2.8, 1.4-5.6), FLT3+/NPM+ (HR 2.6 (1.3-5.2), and FLT3-NPM1- (HR 1.8, 1.0-3.0).
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Project description:Intravascular lymphoma (IVL) is a rare extranodal non-Hodgkin lymphoma. We performed a retrospective analysis of 55 IVL patients who were treated at our institution 2003-2018. Median age at diagnosis was 68 years, and 64% were males. The most frequent presenting symptoms were skin rash 43% and weight loss 30%. MRI brain on IVL patients with CNS involvement (CNS-IVL) showed multifocal involvement in 76% (13/17). 89% (17/19) of non-CNS-IVL patients with abnormal FDG-PET had biopsy of an avid lesion resulting in definitive diagnosis. The top diagnostic biopsy site was the bone marrow (45%). 56% had multiorgan involvement. Based on CNS involvement, 36.5% (20/55) had CNS-IVL and 63.5% (35/55) had non-CNS-IVL. CNS-IVL group consists of clinically isolated CNS involvement (CNS-only IVL) (22%;12/55) and mixed clinical CNS and peripheral site involvement (M-IVL) (14.5%; 8/55). Non-CNS-IVL group consists of clinically isolated skin involvement (skin-only IVL) (9%; 5/55) and peripheral IVL with or without skin involvement (P-IVL); (54.5%; 30/55). Skin involvement was predominantly in the lower extremities. Pathologically, 89% (48/54) were B-cell IVL. Rituximab + high-dose methotrexate-based regimen were used in 75% (12/16) of CNS-IVL patients and RCHOP in 60% (17/28) of non-CNS-IVL patients. Estimated 5-year progression free survival (PFS) and overall survival (OS) for the entire cohort were 38.6% and 52%, respectively. Skin-only IVL was associated with excellent survival. Platelet count <150x109 /L, age > 60Y, and treatment without Rituximab were poor prognostic factors. Further research is necessary to identify novel therapies.
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| S-EPMC8245641 | biostudies-literature
Project description:Abstract Background Deep brain stimulator (DBS)–related infection is a recognized complication that may significantly alter the course of DBS therapy. We describe the Mayo Clinic Rochester experience with DBS-related infections. Methods This was a retrospective study of all adults (≥18 years old) who underwent DBS-related procedures between 2000 and 2020 at the Mayo Clinic Rochester. Results There were 1087 patients who underwent 1896 procedures. Infection occurred in 57/1112 (5%) primary DBS implantations and 16/784 (2%) revision surgeries. The median time to infection (interquartile range) was 2.1 (0.9–6.9) months. The odds of infection were higher with longer operative length (P = .002), higher body mass index (BMI; P = .006), male sex (P = .041), and diabetes mellitus (P = .002). The association between infection and higher BMI (P = .002), male sex (P = .016), and diabetes mellitus (P = .003) remained significant in a subgroup analysis of primary implantations but not revision surgeries. Infection was superficial in 17 (23%) and deep in 56 (77%) cases. Commonly identified pathogens were Staphylococcus aureus (65%), coagulase-negative staphylococci (43%), and Cutibacterium acnes (45%). Three device management approaches were identified: 39 (53%) had complete device explantation, 20 (27%) had surgical intervention with device retention, and 14 (19%) had medical management alone. Treatment failure occurred in 16 (23%) patients. Time-to-event analysis showed fewer treatment failures with complete device explantation (P = .015). Only 1 individual had complications with brain abscess at failure. Conclusions Primary DBS implantations had higher rates of infection compared with revision surgeries. Complete device explantation was favored for deep infections. However, device salvage was commonly attempted and is a reasonable approach in select cases given the low rate of complications. Deep brain stimulator infections typically occur within a few months of device placement or revision, with the majority caused by Staphylococcal species or Cutibacterium acnes. Early, complete device removal was associated with better outcomes than device retention.
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Project description:IntroductionHepatic artery pseudoaneurysm (HAP) is a rare and potentially life-threatening condition associated with high mortality. This study aims to review the etiology, clinical manifestations, management, and outcomes of patients diagnosed and treated for HAP at the Mayo Clinic.MethodologyThis study was a retrospective chart review of medical records for patients diagnosed and treated for hepatic artery pseudoaneurysm (HAP) at the Mayo Clinic (Florida, Minnesota, and Arizona) between September 1, 1998, and June 30, 2022. A total of 27 patients with HAP were identified, and their demographics, presenting symptoms, location of HAP, etiology, associated liver pathology, type of intervention, and outcomes were analyzed.ResultsThe majority of patients with hepatic artery pseudoaneurysm (HAP) were male (63%), with a median age of 57 years (range: 25-87 years). HAP was predominantly intrahepatic (85.2%) and most commonly located on the right hepatic artery (RHA) (70.4%). In 89.9% of cases, the condition was attributable to hepatobiliary procedures or trauma, while only 10.1% occurred spontaneously. Presenting symptoms at the time of HAP diagnosis varied, including gastrointestinal (GI) bleeding (29.6%), abdominal pain (14.81%), non-GI bleeding (11.1%), traumatic bodily injury (11.1%), and other symptoms (14.81%). Asymptomatic or incidental findings of HAP were observed in 18% of cases. Malignancy was identified in 52% of patients, and 26% were liver transplant recipients. Statistical analysis revealed that factors such as prior knowledge of HAP (p = 0.381), HAP rupture (p = 0.382), anticoagulation therapy (p = 0.856), hemorrhagic shock (p = 0.25), liver cirrhosis (p = 0.143), gastrointestinal bleeding (p = 0.879), hepatobiliary abscess (p = 0.079), liver transplantation (p = 0.738), spontaneous HAP (p = 0.381), and malignancy (p = 0.163) were not significantly associated with increased mortality. In contrast, the need for transfusions (p = 0.021), tumor invasion (p = 0.023), portal vein thrombosis (PVT) (p = 0.02), and liver necrosis (p = 0.02) were significantly associated with higher mortality. The overall infection rate was 3%, while the mortality rate was 18.5%.DiscussionHepatic artery pseudoaneurysm (HAP) is a rare but serious condition often associated with hepatobiliary procedures, trauma, or liver transplants, though it can also occur spontaneously. While HAP is commonly detected incidentally, its diagnosis is frequently linked to complications such as rupture and gastrointestinal bleeding. However, our study suggests that these complications do not necessarily increase mortality. Key factors associated with higher mortality include the need for blood transfusions, tumor invasion, portal vein thrombosis, and liver necrosis at the time of diagnosis. The overall infection rate was low, but the mortality rate was 18.5%, highlighting the importance of early detection and management.
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Project description:We describe 1000 patients with essential thrombocythemia seen at the Mayo Clinic between 1967 and 2023: median age 58 years (18-90), females 63%, JAK2/CALR/MPL-mutated 62%/27%/3%, triple-negative (TN) 8%, extreme thrombocytosis (ExT; platelets ≥1000 × 109/L) 26%, leukocytosis (leukocyte count >11 × 109/L) 20%, and abnormal karyotype 6%. JAK2-mutated patients were older (median 71 years), and CALR mutated (52 years), and TN (50 years) younger (p < 0.01). Female gender clustered with TN (73%) and JAK2 (69%) vs. CALR/MPL (49%/47%) mutations (p < 0.01). ExT clustered with CALR (type-2 more than type-1) and TN and leukocytosis with JAK2 mutation (p < 0.01). In multivariable analysis, risk factors for overall survival were older age (p < 0.01), male gender (HR 1.8), absolute neutrophil count (ANC) ≥ 8 × 109/L (HR 1.6), absolute lymphocyte count (ALC) < 1.7 × 109/L (HR 1.5), hypertension (HR 1.7), and arterial thrombosis history (HR 1.7); for leukemia-free survival, ExT (HR 2.3) and abnormal karyotype (HR 3.1); for myelofibrosis-free survival, ANC ≥ 8 × 109/L (HR 2.3) and MPL mutation (HR 3.9); for arterial thrombosis-free survival, age ≥60 years (HR 1.9), male gender (HR 1.6), arterial thrombosis history (HR 1.7), hypertension (HR 1.7), and JAK2 mutation (HR 1.8); for venous thrombosis-free survival, male gender (HR 1.8) and venous thrombosis history (HR 3.0). Associations between ExT and leukemic transformation and between ANC and fibrotic progression were limited to JAK2-mutated cases. Aspirin therapy appeared to mitigate both arterial (HR 0.4) and venous (HR 0.4) thrombosis risk. HR-based risk models delineated patients with median survivals ranging from 10 years to not reached and 20-year leukemia/myelofibrosis incidences from 3%/21% to 12.8%/49%. The current study provides both novel and confirmatory observations of essential thrombocythemia.
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Project description:ObjectiveTo share our decades of experience with primary myelofibrosis and underscore the importance of outcomes research studies in designing clinical trials and interpreting their results.Patients and methodsOne thousand consecutive patients with primary myelofibrosis seen at Mayo Clinic between November 4, 1977, and September 1, 2011, were considered. The International Prognostic Scoring System (IPSS), dynamic IPSS (DIPSS), and DIPSS-plus were applied for risk stratification. Separate analyses were included for patients seen at time of referral (N=1000), at initial diagnosis (N=340), and within or after 1 year of diagnosis (N=660).ResultsTo date, 592 deaths and 68 leukemic transformations have been documented. Parameters at initial diagnosis vs time of referral included median age (66 vs 65 years), male sex (61% vs 62%), red cell transfusion need (24% vs 38%), hemoglobin level less than 10 g/dL (38% vs 54%), platelet count less than 100 × 10(9)/L (18% vs 26%), leukocyte count more than 25 × 10(9)/L (13% vs 16%), marked splenomegaly (21% vs 31%), constitutional symptoms (29% vs 34%), and abnormal karyotype (31% vs 41%). Mutational frequencies were 61% for JAK2V617F, 8% for MPLW515, and 4% for IDH1/2. DIPSS-plus risk distributions at time of referral were 10% low, 15% intermediate-1, 37% intermediate-2, and 37% high. The corresponding median survivals were 17.5, 7.8, 3.6, and 1.8 years vs 20.0, 14.3, 5.3, and 1.7 years for patients younger than 60 years of age. Compared with both DIPSS and IPSS, DIPSS-plus showed better discrimination among risk groups. Five-year leukemic transformation rates were 6% and 21% in low- and high-risk patients, respectively.ConclusionThe current document should serve as a valuable resource for patients and physicians and provides context for the design and interpretation of clinical trials.
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