scholarly journals Cerebral localization of chronic myelomonocytic leukemia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Clémence Haméon ◽  
Cécilia Rousselot ◽  
Flavie Arbion ◽  
Justine Cibron ◽  
Jean-Philippe Cottier ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Fatal Outcome ◽  
Myeloproliferative Neoplasm ◽  
Specific Treatment ◽  
Clinical Decision ◽  
Chronic Myelomonocytic Leukemia ◽  
Case Presentation ◽  
Cerebral Localization ◽  
Brain Involvement ◽  
Myelomonocytic Leukemia

Abstract Background Chronic myelomonocytic leukemia is a myelodysplastic/myeloproliferative neoplasm characterized by the infiltration of blood and bone marrow by immature monocytes. Cerebral localization of chronic myelomonocytic leukemia has never been described. Case presentation We report the case of a Caucasian 59 year-old man with multiorgan chronic myelomonocytic leukemia infiltration, associated with uncommon brain involvement. There was no evidence of evolution to acute myeloid leukemia. The evidence of cerebral infiltration by chronic myelomonocytic leukemia was made after autopsy. Conclusions The fatal outcome of the patient raises the question of the potential benefit of early specific treatment, such as demethylating agents or intensive chemotherapy. Sharing such images of atypical and rapidly evolving chronic myelomonocytic leukemia and the disease history may help clinical decision-making in the future.

scholarly journals Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Marwa Abd Elmaksoud ◽  
Aya Attya Abeesh ◽  
Catarina Pereira ◽  
Marwa El-Saeed El-Deeb
Keyword(s):  
Differential Diagnosis ◽  
Corpus Callosum ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Phenotype Correlation ◽  
Multisystem Disease ◽  
Case Presentation ◽  
Correlation Studies ◽  
Clinical Description ◽  
Infant Case

Abstract Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.

Liposarcoma of the left hemithorax and implications of MDM2

2019 ◽  
Vol 18 (4) ◽  
pp. 397-399
Author(s):  
Michael Stolten ◽  
Deepak Sahasrabudhe ◽  
Louis Constine
Keyword(s):  
Decision Making ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Adjuvant Radiation ◽  
Left Hemithorax ◽  
Case Presentation ◽  
Close Observation ◽  
Initial Biopsy ◽  
Molecular Information ◽  
Well Differentiated

AbstractBackground:Use of molecular information to guide clinical management of thoracic liposarcoma following resection.Case presentation:We present a case of a large liposarcoma of the left hemithorax. Initial biopsy consistent with lipoma however following resection pathology showed well-differentiated liposarcoma. Clinical data and molecular information including MDM2 from the tumour were employed in decision making regarding subsequent adjuvant radiation therapy versus close observation.Conclusion:Improved molecular characterisation has increased the precision of histological diagnoses and prediction of outcomes for many cancers. These may continue to help guide and strengthen clinical decision making and recommendations as they pertain to adjuvant therapy versus observation in the case of this patient.

Evolution of chronic myelomonocytic leukemia to myeloproliferative neoplasm

2016 ◽  
Vol 95 (8) ◽  
pp. 1377-1380 ◽  
Author(s):  
S. Bartels ◽  
U. Lehmann ◽  
G. Büsche ◽  
J. Schlue ◽  
H. Kreipe
Keyword(s):  
Myeloproliferative Neoplasm ◽  
Chronic Myelomonocytic Leukemia ◽  
Myelomonocytic Leukemia

scholarly journals Extramedullary Hematopoiesis in a Sentinel Lymph Node as an Early Sign of Chronic Myelomonocytic Leukemia

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Joslin M. Bowen ◽  
Anamarija M. Perry ◽  
Erin Quist ◽  
Mojtaba Akhtari
Keyword(s):  
Bone Marrow ◽  
Lymph Node ◽  
Sentinel Lymph Node ◽  
Myeloproliferative Neoplasm ◽  
Extramedullary Hematopoiesis ◽  
Lymph Node Involvement ◽  
Chronic Myelomonocytic Leukemia ◽  
Hematopoietic Malignancy ◽  
Hematologic Disorder ◽  
Myelomonocytic Leukemia

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy with features of both a myeloproliferative neoplasm and a myelodysplastic syndrome. Even though extramedullary leukemic infiltration is common in CMML patients, lymph node involvement has rarely been reported in the literature. We present an unusual case of a 72-year-old female who was found to have extramedullary hematopoiesis (EMH) in a sentinel lymph node that was excised during mastectomy for lobular breast carcinoma. One year later bone marrow biopsy was performed due to persistent anemia, thrombocytopenia, and monocytosis and the patient was diagnosed with CMML. Our case illustrates the importance of recognizing EMH in a lymph node during routine histological examination, especially in adults. Proliferation of bone marrow elements in a lymph node, in a patient with no known hematologic disorder, should trigger immediate bone marrow evaluation, as this could be the first clue in diagnosing underlying bone marrow disorder.

Gastric cancer in a teenager: a case report

2017 ◽  
Vol 31 (6) ◽  
Author(s):  
Itai Ghersin ◽  
Lior H. Katz
Keyword(s):  
Gastric Cancer ◽  
Gastric Adenocarcinoma ◽  
Older Patients ◽  
Clinical Decision Making ◽  
Diagnostic Delay ◽  
Young Patients ◽  
Clinical Decision ◽  
Critical Importance ◽  
Case Presentation ◽  
Female Soldier

Abstract Background Gastric cancer occurs mainly in older patients, with a peak incidence over 60 years of age. It is relatively rare among younger individuals. However, the frequency of gastric cancer in young patients appears to be on the rise worldwide. Case presentation We report the case of a 19-year-old female soldier who, after a considerable diagnostic delay, was diagnosed with gastric adenocarcinoma. She is one of the youngest gastric adenocarcinoma patients ever reported in Israel. Conclusion This case should serve as a reminder that gastric carcinoma is a possible diagnosis even in young patients. It also highlights the critical importance of obtaining a thorough medical history in the process of clinical decision making.

Chronic myelomonocytic leukemia genomic signature correlates with the degree of bone marrow fibrosis: A single-institutional retrospective study.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 7559-7559
Author(s):  
Feras Ally ◽  
Amar Jariwala ◽  
Patricia A. Aoun ◽  
Milhan Telatar ◽  
Raju K. Pillai ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Genomic Dna ◽  
Myeloproliferative Neoplasm ◽  
Progression Free Survival ◽  
Chronic Myelomonocytic Leukemia ◽  
Low Grade ◽  
Bone Marrow Fibrosis ◽  
Targeted Mutation ◽  
Myelomonocytic Leukemia ◽  
Marrow Fibrosis

7559 Background: Chronic myelomonocytic leukemia (CMML) has features of both a myeloproliferative neoplasm and a myelodysplastic syndrome. The median overall survival (OS) in most series is 20-40 months. CMML is a relatively rare entity, and there is limited understanding of prognostic molecular markers. CMML associated with bone marrow fibrosis grade 1, appear to have shorter progression free survival. In this study we investigated the correlation of mutations with bone marrow reticulin fibrosis in patients with CMML. Methods: We investigated a cohort of 41 consecutive patients diagnosed with CMML 0, 1, 2, and CMML-AML from 2014 to 2019 at our institute. The median age of 41 patients was 68 years (range, 34-82). 27% were females and 73% were males. This cohort consists of 8 (20%) patients with CMML0, 19 (46%) with CMML1, 8 (20%) with CMML2 and 6 (15%) with CMML-AML. Genomic DNA was extracted from the bone marrow aspirates and targeted mutation NGS libraries were prepared from 200 ng of genomic DNA using the SureSelect target enrichment system (Agilent Technologies Inc.). The gene panel consists of 73 genes focused on myeloid neoplasms. The data were curated on the basis of our molecular pathology and national databases. Additionally, clinical data and bone marrow (BM) reticulin fibrosis grades (n = 27 available) were retrieved from the patient’s medical record. Results: The mutational profile frequency in our cohort showed that the most common mutations were TET2 (31%), ASXL1 (31%), and SRSF2 (23%), with frequencies very similar to those reported in the literature. Of the 27 cases with an available reticulin stain, only low grade fibrosis (MF-0, n = 18. MF-1, n = 9) were identified in our cohort. The frequencies of mutations in ASXL1, U2AF1, TP53, JAK2 and RUNX1, positively correlated with low grade fibrosis (MF-1). Additionally, patients with higher frequencies of SRSF2, TET2, and SETBP1 mutations showed no fibrosis (MF-0). Conclusions: This study is the first to correlate the degree of fibrosis with the frequency of mutations in CMML. We found similar mutations spectrum reported in the literature in patients with CMML. The mutational profile associated with CMML cases appears to affect the degree of the bone marrow fibrosis at the time of diagnosis.

SRSF2 is Mutated in 47.2% (77/163) of Chronic Myelomonocytic Leukemia (CMML) and Prognostically Favorable in Cases with Concomitant RUNX1 mutations

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 274-274 ◽  
Author(s):  
Susanne Schnittger ◽  
Manja Meggendorfer ◽  
Alexander Kohlmann ◽  
Vera Grossmann ◽  
Kenichi Yoshida ◽  
...  
Keyword(s):  
Hot Spot ◽  
Myeloproliferative Neoplasm ◽  
Gene Mutations ◽  
Chronic Myelomonocytic Leukemia ◽  
Structural Basis ◽  
Employment Equity ◽  
Cell Counts ◽  
Number Of Genes ◽  
Equity Ownership ◽  
Myelomonocytic Leukemia

Abstract Abstract 274 Introduction: Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy characterized by features of both a myeloproliferative neoplasm and a myelodysplastic syndrome. We previously investigated 81 CMML cases and detected a number of genes frequently mutated (TET2 44.4%, CBL 22.2%, NRAS 22.2%, KRAS 12.3%, JAK2 9.8%, RUNX1 8.7%, EZH2 12.3% (Kohlmann et al., JCO, 2010; Grossmann et al., Leukemia, 2011). Recently, we detected a new candidate gene, SRSF2 (serine/arginine-rich splicing factor 2, also known as SC35) that is a component of the RNA splicing machinery and found it to be frequently mutated in MDS. Aim: As CMML has been increasingly characterized by a growing number of genes during the last years we here analyzed both the frequency of SRSF2 mutations in this entity and the relevance in the context of other previously described gene mutations, as well as to look for a potential prognostic implication. Patients and Methods: In total, 163 cases with CMML (CMML-1 n=105, CMML-2 n=58) were included. The cohort comprised 115 males and 48 females with a median age of 72.8 yrs (range: 21.9 – 88.8 yrs) including all 81 pts that have been published previously. 112 cases (69%) had a normal karyotype and 51 (31%) showed aberrant karyotypes. The mutational hot spot region of SRSF2 around Proline codon 95 (P95) was analyzed by Sanger sequencing in all cases. Data on further mutations were available in respective subcohorts: ASXL1 (n=128), CBL (n=162), EZH2 (n=134), JAK2V617F (n=162), KRAS (n=140), NRAS (n=79), RUNX1 (n=156), TET2 (n=143), TP53 (n=80). Results:SRSF2 mutations of P95 were detected in 77/163 (47.2%) of all cases (49/105, 46.7% in CMML-1, and 28/58, 48.3% in CMML-2). In detail, 74 cases had a missense mutation leading to a change of P95 to P95H (n=33), P95L (n=24), P95R (n=16) or P95A (n=1). In further 3 cases a newly described 24 bp (8 amino acids) deletion starting at P95 was observed. All cases had a mutation load of approximately 50%. The mutations were correlated with higher age (73.3 yrs vs 68.7 yrs in the SRSF2wt cases, p=0.010) and higher hemoglobin levels (11.4 vs 10.5 g/dl in the SRSF2wt cases, p=0.019) whereas white blood cell counts were not different. Further, SRSF2 mutations were mutually exclusive of EZH2 mutations (0/12, 0% vs. 66/122, 54.1% in the EZH2wt, p<0.001) whereas a high coincidence occurred with RUNX1 mutations (22/35, 62.9% vs 52/121, 43% in the RUNX1wt, p=0.054) and TET2 mutations (50/82, 61% vs 18/61, 29.5% in the TET2wt, p<0.001). With respect to associations with all other gene mutations investigated and karyotype no specific pattern was observed. In the total cohort no impact of SRSF2 on survival was observed. Because of the high coincidence of SRSF2mut with RUNX1mut and TET2mut, we performed an analysis in these specific subcohorts. No impact of SRSF2mut in the TET2mut subcohort was found. Whereas in the RUNX1mut subcohort SRSF2mut had a favorable impact on overall survival compared to SRSF2wt (median OS: 108.0 months vs 41.8 months, p=0.05). Conclusions:SRSF2 has recently been described as a new marker in CMML and demonstrated to be useful to delineate further the genetic defects of this disease. This very frequent new mutation is characterized by higher age, higher hemoglobin levels and a high coincidence with TET2 and RUNX1 mutations. It is mutually exclusive of EZH2 mutations. In the subset of RUNX1 mutated CMML SRSF2 mutations demonstrated a favorable impact on outcome. Furthermore, for the first time a 24 bp deletion was observed in three cases that may provide further insight into the structural basis for the abnormal function of SRSF2. Disclosures: Schnittger: MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Meggendorfer:MLL Munich Leukemia Laboratory: Employment. Kohlmann:MLL Munich Leukemia Laboratory: Employment. Grossmann:MLL Munich Leukemia Laboratory: Employment. Kern:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.

Chronic Myelomonocytic Leukemia With Preexisting Myelodysplastic Syndrome Or Myeloproliferative Neoplasm: Two Stages Of One Disease With Poor Prognosis

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 1342-1342 ◽  
Author(s):  
Yin Xu ◽  
Aine Yung ◽  
Brian Kwok ◽  
Karen Macdonell ◽  
Bashar Dabbas ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
De Novo ◽  
Myeloproliferative Neoplasm ◽  
Chronic Myelomonocytic Leukemia ◽  
Chromosome Abnormalities ◽  
Refractory Anemia ◽  
Jak2 Mutation ◽  
Cytogenetic Abnormalities ◽  
Two Stages ◽  
Myelomonocytic Leukemia

Abstract Introduction Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy characterized by persistent monocytosis with features of a myelodysplastic syndrome (MDS) and/or myeloproliferative neoplasm (MPN). While most cases present as de novo disease, a subset of CMML has been described in the literature to evolve from a preexisting MDS (MDS-CMML). CMML with preexisting MPN (MPN-CMML) has not been characterized to our knowledge. It is uncertain whether CMML patients with preexisting MDS or MPN have one or more disease processes and if such patients behave differently from patients who present with de novo CMML. In an attempt to address these questions, we compared the clinicopathologic features between groups of MDS-CMML, MPN-CMML, and de novo CMML in the present study. Methods 126 cases with newly diagnosed CMML were retrieved from our database over a 3-year period. 22 cases had preexisting MDS (n=15) or MPN (n=7). Prior diagnoses of MDS included refractory anemia (n=5), refractory anemia with ring sideroblasts (n=2), MDS with isolated 5q deletion (n=1), refractory cytopenia with multilineage dysplasia (n=6), and refractory anemia with excess blasts-1 (n=1). Prior diagnoses of MPN included essential thrombocythemia (n=1), primary myelofibrosis (n=3), and MPN NOS (n=3). Cytogenetic studies were performed in all cases. Other parameters obtained included age, gender, hemoglobin, white blood cell count, monocytes, platelets, bone marrow blasts and histology, and JAK2/MPL mutations. 22 consecutive cases of de novo CMML were included for comparative analysis. Results CMML with preexisting MDS or MPN comprised 17% of CMML (22/126 patients). Among these 22 patients, 15 were male and 7 female with a median age of 79 (range 61-86) years. Median age of the patients at CMML stage was similar to that of patients with de novo CMML (77 years; range 65-89). The median time between disease presentation as MDS or MPN and CMML was 22 months. Patients presented with marked monocytosis at the CMML stage (mean: 23% and 4564/uL) as compared to the stage of MDS (mean: 13% and 794/uL; p<0.001) or MPN (mean: 6.4% and 1216/uL; p<0.001); and the monocyte count was similar to that present in de novo CMML (mean: 24% and 4313/uL). Marrow blasts were significantly increased at the CMML stage as compared to the stage of MDS (mean: 5.3 vs. 1.6; p=0.017), MPN (mean: 5.1 vs. 1.9; p=0.048), or de novo CMML (5.2 vs. 1.9; p=0.009). There was no significant difference in average hemoglobin, platelet count or marrow cellularity between cases at the two disease stages or among the MDS-CMML and MPN-CMML subgroups. However, the marrows of MPN-CMML showed significantly increased diffuse reticulin fibrosis (p=0.002) and marked megakaryocytic hyperplasia (p=0.002) as compared to MDS-CMML. CMML with preexisting MDS or MPN is more frequently associated with cytogenetic abnormalities than de novo CMML (50% vs. 23%), although this difference did not reach statistical significance (p=0.116). 8 (36%) cases had chromosome abnormalities at the MDS or MPN stages; 7 (87%) of the 8 cases demonstrated persistent chromosome abnormalities at the CMML stage. In addition, 4 (18%) patients acquired chromosome abnormalities at the CMML stage. JAK2 mutation was seen in 1 (7%) of 15 cases of MDS-CMML and 4 (57%) of 7 cases of MPN-CMML. Notably, 2 cases of JAK2 positive MPN became JAK2 negative at the CMML stage; one of the patients had been previously treated with a JAK2 inhibitor. No MPL mutation was found in any case. Conclusions CMML with preexisting MDS or MPN is not uncommon. The majority of cases exhibit persistent chromosomal abnormalities from the preexisting MDS or MPN, supporting the notion of one disease with two stages of presentation. The findings of a higher frequency of cytogenetic abnormalities and occasional cytogenetic evolution may suggest that chromosome alteration is one of the mechanisms involved in triggering disease progression to CMML. JAK2 V617F was more frequent in MPN-CMML, which correlated with myelofibrosis and megakaryocytic hyperplasia. However, loss of JAK2 mutation can occur at CMML stage. Loss/inhibition of JAK2 activity may contribute to a change in disease course. Our study revealed that CMML with preexisting MDS or MPN is characterized by more advanced disease with increased marrow blasts and therefore may be associated with a poorer prognosis. Disclosures: No relevant conflicts of interest to declare.

scholarly journals A machine learning framework for automated diagnosis and computer-assisted planning in plastic and reconstructive surgery

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Paul G. M. Knoops ◽  
Athanasios Papaioannou ◽  
Alessandro Borghi ◽  
Richard W. F. Breakey ◽  
Alexander T. Wilson ◽  
...  
Keyword(s):  
Machine Learning ◽  
Decision Making ◽  
Reconstructive Surgery ◽  
Clinical Decision Making ◽  
Specific Treatment ◽  
Operation Time ◽  
Clinical Decision ◽  
Patient Specific ◽  
Computer Assisted ◽  
Plastic And Reconstructive Surgery

Abstract Current computational tools for planning and simulation in plastic and reconstructive surgery lack sufficient precision and are time-consuming, thus resulting in limited adoption. Although computer-assisted surgical planning systems help to improve clinical outcomes, shorten operation time and reduce cost, they are often too complex and require extensive manual input, which ultimately limits their use in doctor-patient communication and clinical decision making. Here, we present the first large-scale clinical 3D morphable model, a machine-learning-based framework involving supervised learning for diagnostics, risk stratification, and treatment simulation. The model, trained and validated with 4,261 faces of healthy volunteers and orthognathic (jaw) surgery patients, diagnoses patients with 95.5% sensitivity and 95.2% specificity, and simulates surgical outcomes with a mean accuracy of 1.1 ± 0.3 mm. We demonstrate how this model could fully-automatically aid diagnosis and provide patient-specific treatment plans from a 3D scan alone, to help efficient clinical decision making and improve clinical understanding of face shape as a marker for primary and secondary surgery.

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