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Familial Acute Myeloid Leukemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Individuals with germline DDX41 mutations present with myelodysplastic syndromes or AML at older ages (median age 62 years), similar to the ages for sporadic cases, with no specific clinical feature to suggest a germline cause. Since the latency can be as long as the seventh and eighth decades, the presentation is very similar to sporadic forms of disease if a family history is not evident. In addition to myeloid neoplasms, there may be predisposition to lymphoid neoplasms, including early-onset follicular lymphoma and Hodgkin lymphoma, multiple myeloma [90], and non-hematologic malignancies including non-small cell lung cancer [104]. Clinical manifestations in healthy carrier individuals, if examined, in families with germline DDX41 mutations may be very subtle, including cytopenia or mild monocytosis. Given the recent discovery of DDX41 as a familial predisposing gene for myeloid and lymphoid malignancies and the currently limited knowledge of functions of DDX41, including in cancer, it is likely that much is yet to be learned for these genetic mutations.
The lymphoreticular system and bone marrow
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Primary malignancies of the bone marrow are clonal stem cell disorders producing varying degrees of proliferation and differentiation. The acute leukaemias are tumours showing proliferation, but little if any differentiation. These tumours consist of primitive blast cells with a high proliferative rate because no cells leave the pool of dividing cells to differentiate. They are thus fast-growing and clinically aggressive. Those processes, characterized by proliferation and differentiation, are known as ‘myeloproliferative disorders’. Both the bone marrow and the peripheral blood are highly cellular, but all stages of differentiation are seen. Differentiation draws cells out of the dividing pool – hence the apparent proliferation rate is lower and the clinical course is more protracted. In the myelodysplastic syndromes there is proliferation and differentiation, but the latter is abnormal. The high rate of proliferation causes increased marrow cellularity, but the abnormal differentiation results in the destruction of defective cells, so peripheral blood counts are low. Multiple myeloma – a tumour composed of mature plasma cells – typically arises in the bone marrow.
Acute Leukemia and Myelodysplastic Syndromes
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Mark D. Brissette, James D. Cotelingam
The diagnosis of a myelodysplastic syndrome was made after bone marrow aspiration and biopsy. Over the next 7 months, the patient had decreasing peripheral blood counts and the appearance of blasts in the peripheral blood. He elected to receive supportive care only and died 1 month thereafter.
An update on the safety of olaparib for treating ovarian cancer
Published in Expert Opinion on Drug Safety, 2022
Kelsi Cottrell, Caroline L. Clark, Richard T. Penson
While the immediate toxicities related to olaparib can be well-known, the long-term effects of this drug are relatively unstudied. Long-term effects of PARP inhibitor treatment are primarily thought to be secondary-myelodysplastic syndrome (MLS) and acute myeloid leukemia (AML) and these conditions were actively solicited during the overall survival follow-up periods in SOLO-2 and SOLO-1 trials [7,21,23]. In patients with solid tumors, such as those with ovarian cancer, these conditions may remain latent for 10–15 years [24]. Myelodysplastic syndromes are a group of myeloid cell disorders that present as peripheral blood cytopenias and have the potential to escalate to AML [25]. AML occurs when bone marrow becomes genetically damaged, resulting in the overproduction of immature myeloid cells that, with healthy origins, would continue to differentiate into mature types of white blood cells, but due to their underlying genetic injury, instead stagnate at an unfinished point in their development and overcrowd the circulatory system [25]. The magnitude of risk of these two conditions was underappreciated in previous trials, with 8% of patients on olaparib contracting MLS/AML in the SOLO-2 trial and 7% of patients on niraparib contracting MLS/AML in the NOVA trial [26].
How low risk are low risk myelodysplastic syndromes?
Published in Expert Review of Hematology, 2022
Amy E. DeZern, William Brian Dalton
So how low-risk are low-risk myelodysplastic syndromes? Wtabill they develop leukemia? In the 50 years since Rowley’s crucial question, the answer has become progressively more accurate, but additional work is needed. First and foremost, there is a demand for new prognostic scoring systems that incorporate the variables discussed above. Two such approaches were published in 2021 in The Journal of Clinical Oncology. Bersanelli et al used random-effects Cox proportional hazards multistate modeling on clinical and genomic variables (including mutations) from 2,430 patients to generate a personalized prognostic assessment, and Nazha et al entered clinical and mutational data from 1,471 patients into a random survival forest algorithm to develop a personalized prediction model [32,35]. The resulting prediction systems outperformed the IPSS-R in independent datasets, and both groups intend to make their personalized prediction tools available online for application to individual MDS patients. Moreover, a large multi-institutional group has proposed a Molecular International Prognosis Scoring System (IPSS-M) from analysis of clinical, cytogenetic, and mutational features of 2,957 patients [83]. They report this system re-stratifies nearly half of MDS patients compared to the IPSS-R, including the upstaging of 6% of patients from IPSS-R Very Low/Low to IPSS-M Very High/High [83]. Implementation of these tools should launch a new era of molecular prognostication of low-risk MDS.
Distinct clinical characteristics of pediatric Behçet’s syndrome: A study from a referral center in China
Published in Modern Rheumatology, 2021
Jun Zou, Jian-feng Luo, Yan Shen, Jian-Long Guan
Skin lesions consists of erythema nodosum and pseudofolliculitis or acne-like eruptions. Organ involvement was assessed by reviewing the patient’s symptoms, past medical history, physical examination, laboratory studies, imaging examinations and endoscopy findings. Ocular lesions include anterior, posterior, or panuveitis uveitis [23]. Intestinal BS was confirmed by endoscopic and radiological features [24]. Vascular involvement was defined as deep venous thrombosis, major vein (vena cava, hepatic) thrombosis and arterial thrombosis or aneurysms [25]. Cardiac lesions were documented as aortic valve regurgitation, intracardiac thrombi [26] and coronary artery disease [27]. Myelodysplastic syndrome (MDS) was diagnosed and classified according to WHO classification [28], while patients had typical BS manifestations. CNS included inflammatory parenchymal lesions, and extra-parenchymal forms causing cerebral venous sinus thrombosis [29].