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Cancers Feb 2024Non-acute myeloid neoplasms (MNs) with mutations (mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML)... (Review)
Review
Non-acute myeloid neoplasms (MNs) with mutations (mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypical mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS. mutations occur in 3-5% of CMML and 1-6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs with mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact of mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.
PubMed: 38398096
DOI: 10.3390/cancers16040705 -
Pathology, Research and Practice Mar 2024An extramedullary myeloid tumor or chloroma is an infrequent manifestation of a myeloid neoplasm. It is considered an equivalent to an acute myeloid leukemia. It is...
An extramedullary myeloid tumor or chloroma is an infrequent manifestation of a myeloid neoplasm. It is considered an equivalent to an acute myeloid leukemia. It is confirmed through biopsy, where infiltrating neoplastic myeloid cells distort the parenchyma. A total of twenty-nine cases were diagnosed as MS between 198 and 2023. Upon re-evaluation, only fourteen cases fulfilled the criteria for MS. The most common differential diagnosis were lymphomas, leukemic infiltration, and extramedullary hematopoiesis. Few were isolated cases; the rest were in the context of progression of a myeloid neoplasm. The majority had a myelomonocytic morphology and immunophenotype. The most reliable markers were CD45, HLA-DR, CD68 and CD4. The study highlights the complexity and impact of an accurate diagnosis of a myeloid sarcoma.
Topics: Humans; Sarcoma, Myeloid; Leukemia, Myeloid, Acute; Diagnosis, Differential; Biopsy; Immunophenotyping
PubMed: 38394809
DOI: 10.1016/j.prp.2024.155176 -
Zhongguo Shi Yan Xue Ye Xue Za Zhi Feb 2024To investigate the clinical significance of genetic and molecular changes in primary myeloid sarcoma (MS).
OBJECTIVE
To investigate the clinical significance of genetic and molecular changes in primary myeloid sarcoma (MS).
METHODS
Fourteen patients with primary MS were selected in Jiading District Central Hospital Affiliated Shanghai University of Medicine & Health Sciences, The First People's Hospital of Lianyungang from September 2010 to December 2021. fusion, fusion and breakage were detected by fluorescence in situ hybridization (FISH), and the mutations of and genes were detected by new generation sequencing (NGS).
RESULTS
Among 14 patients, the MS occurred in bone, breast, epididymis, lung, chest wall, cervix, small intestine, ovary, lymph nodes and central nervous system. The tumor cells expressed MPO (13 cases), CD34 (7 cases), CD43 (8 cases), CD68 (7 cases), CD99 (8 cases) and CD117 (6 cases). Cytogenetic abnormalities were observed in 4 cases, including 3 cases of fusion and 1 case of breakage, while no fusion was detected. There were no significant differences in overall survival (OS) and leukemia-free survival (LFS) between patients with and without fusion/ breakage (both >0.05). Among the 14 patients, the number of and gene mutations was 5, 3, 5, 3, 2, 2, 1, respectively, of which 7 cases had at least one mutation in and gene. The OS and LFS of patients with or mutation were shorter than those without mutations (both <0.01).
CONCLUSION
The genetic and molecular abnormalities of primary MS can be detected by FISH and NGS techniques. or mutation indicates a worse prognosis, but further clinical studies are needed to confirm it.
Topics: Male; Female; Humans; Core Binding Factor Alpha 2 Subunit; Nucleophosmin; Clinical Relevance; In Situ Hybridization, Fluorescence; Sarcoma, Myeloid; China
PubMed: 38387895
DOI: 10.19746/j.cnki.issn.1009-2137.2024.01.005 -
Radiology Case Reports May 2024This report presents a unique case of a 42-year-old female with a history of acute myeloid leukemia (AML) who exhibited an extramedullary relapse in the breast. Given...
This report presents a unique case of a 42-year-old female with a history of acute myeloid leukemia (AML) who exhibited an extramedullary relapse in the breast. Given the rarity of such presentations, this case underscores the importance of considering AML in the differential diagnosis of breast lesions, especially in patients with a pertinent medical history. Additionally, this case highlights the radiological and pathological challenges in distinguishing AML from other breast malignancies. The importance of timely diagnosis and the clinical implications of such a presentation are also discussed.
PubMed: 38384694
DOI: 10.1016/j.radcr.2024.01.067 -
Leukemia & Lymphoma Jun 2024Transformation of follicular lymphoma (FL) to a Langerhans cell (LC) neoplasm is extremely uncommon. The shared rearrangement is a robust finding in most transformed... (Review)
Review
Transformation of follicular lymphoma (FL) to a Langerhans cell (LC) neoplasm is extremely uncommon. The shared rearrangement is a robust finding in most transformed tumors underscoring that the cell of origin is perhaps a pre-B cell harboring with the propensity to undergo further genetic alterations in the germinal centers of lymph nodes: does in pre-B cells set off a plasticity cell state? Do FL and LC neoplasms develop separately through a common progenitor or a multistep process of transdifferentiation or dedifferentiation/redifferentiation? Here, we review the literature and relevant cases presented in the Society for Hematopathology/European Association of Haematopathology 2021 Workshop to better understand this rare and complex phenomenon. We discuss clinical data, clonal relationship, and the mutational profile of these tumors and review proposed mechanisms of B/myeloid conversion based on and models.
Topics: Humans; Lymphoma, Follicular; Cell Transformation, Neoplastic; B-Lymphocytes; Langerhans Cells; Mutation; Myeloid Cells
PubMed: 38380864
DOI: 10.1080/10428194.2024.2319691 -
Cureus Jan 2024Myeloid sarcoma (MS) represents a unique clinical presentation of acute myeloid leukemia (AML). This report describes a case of MS in a 66-year-old man who presented...
Myeloid sarcoma (MS) represents a unique clinical presentation of acute myeloid leukemia (AML). This report describes a case of MS in a 66-year-old man who presented with dysphagia, nausea, vomiting, anorexia, and fatigue. Generalized lymphadenopathy was noted on physical exam and confirmed by CT scans which also showed diffuse esophageal wall thickening. Axillary lymph node biopsy was positive for MS. Bone marrow biopsy confirmed AML with 88% blasts. The patient received induction chemotherapy with decitabine and venetoclax and was planned for four cycles of treatment over three months while monitoring the response.
PubMed: 38374841
DOI: 10.7759/cureus.52624 -
Virchows Archiv : An International... Feb 2024Extramedullary involvement of acute myeloid leukemia (AML), aka myeloid sarcoma, is a rare phenomenon in acute megakaryoblastic leukemia with RBM15:: MRTFA(MKL1) fusion,...
Extramedullary involvement of acute myeloid leukemia (AML), aka myeloid sarcoma, is a rare phenomenon in acute megakaryoblastic leukemia with RBM15:: MRTFA(MKL1) fusion, which might mimic non-hematologic malignancies. A 7-month-old infant presented with leukocytosis, hepatosplenomegaly, multiple lymphadenopathies, and a solid mass in the right thigh. Initially, the patient was diagnosed with a malignant vascular tumor regarding the expression of vascular markers from the biopsy of the right thigh lesion that was performed after the inconclusive bone marrow biopsy. The second bone marrow biopsy, which was performed due to the partial response to sarcoma treatment, showed hypercellular bone marrow with CD34 and CD61-positive spindle cell infiltration and > 20% basophilic blasts with cytoplasmic blebs. RNA sequencing of soft tissue biopsy revealed the presence of RBM15::MRTFA(MKL1) fusion. Based on these findings, myeloid sarcoma/AML with RBM15::MRTFA(MKL1) fusion diagnosis was made. AML with RBM15::MRTFA(MKL1) fusion can initially present as extramedullary lesions and might cause misdiagnosis of non-hematologic malignancies.
PubMed: 38374236
DOI: 10.1007/s00428-024-03766-z -
Advanced Healthcare Materials May 2024Leukemia circulates in the bloodstream and induces various symptoms and complications. Occasionally, these cells accumulate in non-marrow tissues, forming a tumor-like...
Leukemia circulates in the bloodstream and induces various symptoms and complications. Occasionally, these cells accumulate in non-marrow tissues, forming a tumor-like myeloid sarcoma (MS). When the blast-stage leukemia cells invade the brain parenchyma, intracranial MS occurs, leading to a challenging prognosis owing to the limited penetration of cytostatic drugs into the brain and the development of drug resistance. The scarcity of tissue samples from MS makes understanding the phenotypic changes occurring in leukemia cells within the brain environment challenging, thereby hindering development of effective treatment strategies for intracranial MS. This study presents a novel 3D in vitro model mimicking intracranial MS, employing a hydrogel scaffold derived from the brain-decellularized extracellular matrix in which suspended leukemia cells are embedded, simulating the formation of tumor masses in the brain parenchyma. This model reveals marked phenotypic changes in leukemia cells, including altered survival, proliferation, differentiation, and cell cycle regulation. Notably, proportion of dormant leukemia stem cells increases and expression of multidrug resistance genes is upregulated, leading to imatinib resistance, mirroring the pathological features of in vivo MS tissue. Furthermore, suppression of ferroptosis is identified as an important characteristic of intracranial MS, providing valuable insights for the development of targeted therapeutic strategies.
Topics: Humans; Brain; Cell Line, Tumor; Sarcoma, Myeloid; Extracellular Matrix; Drug Resistance, Neoplasm; Cell Proliferation; Brain Neoplasms; Phenotype; Hydrogels; Tissue Scaffolds; Cell Differentiation; Animals; Ferroptosis
PubMed: 38320209
DOI: 10.1002/adhm.202304371 -
Frontiers in Oncology 2023Myeloid sarcoma (MS) is a rare hematological malignancy characterized by the formation of a solid mass of myeloblasts outside the bone marrow, such as in the lymph...
BACKGROUND
Myeloid sarcoma (MS) is a rare hematological malignancy characterized by the formation of a solid mass of myeloblasts outside the bone marrow, such as in the lymph nodes, skin, or bone. MS may arise or concurrently with acute myeloid leukemia (AML), myeloproliferative neoplasm (MPN), or myelodysplastic syndrome (MDS). MS accounts for less than 1% of extramedullary acute myeloid leukemia cases. Phyllodes tumors (PTs) are a rare fibroepithelial breast tumor that can be benign, malignant, or borderline, and account for less than 1% of all breast cancers.
CASE PRESENTATION
We present a unique case of a 50-year-old woman with both breast MS and borderline PT with malignant features, which presented a diagnostic challenge. The patient initially presented with a mass in her right breast, and the initial fine-needle biopsy revealed the presence of immature myeloperoxidase (MPO) myeloid cells consistent with MS. Subsequent pathological analysis of tumor tissues after neoadjuvant radiotherapy and chemotherapy showed a borderline PT with malignant features. Following excision of the tumor, the patient experienced a local recurrence, which was also surgically removed. At 8 months post-surgery, the patient remains free of recurrence under close follow-up.
CONCLUSION
This case highlights the importance of considering the possibility of concurrent malignancies in the differential diagnosis of complex breast masses and underscores the challenges involved in diagnosing and managing such cases. Additionally, we also emphasize the value of neoadjuvant radiotherapy and chemotherapy in MS.
PubMed: 38313212
DOI: 10.3389/fonc.2023.1268617 -
Clinical Case Reports Feb 2024We report an unusual case presentation of a patient with necrotic tissue changes of the right second and third fingers, found to have myeloid sarcoma with -positive...
We report an unusual case presentation of a patient with necrotic tissue changes of the right second and third fingers, found to have myeloid sarcoma with -positive tenosynovitis and underlying acute myeloid leukemia, to highlight the importance of comprehensive evaluation in patients with atypical wounds.
PubMed: 38292221
DOI: 10.1002/ccr3.8465