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BMJ Case Reports Apr 2024We present a rare case of myeloid sarcoma in the stomach of an elderly woman initially diagnosed with anaemia. Myeloid sarcoma, an unusual extramedullary manifestation...
We present a rare case of myeloid sarcoma in the stomach of an elderly woman initially diagnosed with anaemia. Myeloid sarcoma, an unusual extramedullary manifestation of acute myeloid leukaemia (AML), primarily affects lymph nodes, bones, spine and skin, with gastrointestinal involvement being infrequent. Despite normal results from the initial endoscopy, a follow-up examination after 4 months revealed multiple submucosal gastric tumours. These developments coincided with worsening of anaemia and an increase in peripheral myeloblasts. Pathological evaluation and immunohistochemical staining confirmed gastric extramedullary infiltration associated with AML. This case highlights the importance of comprehensive diagnostic processes when suspecting leukaemic transformations, especially in myelodysplastic syndrome (MDS). Due to financial constraints, additional critical studies such as cytogenetics and next-generation sequencing were not performed. Nonetheless, this rare case demonstrates the visual observation of rapid progression from MDS to AML and concurrent early myeloid sarcoma development in an elderly patient.
Topics: Female; Humans; Aged; Sarcoma, Myeloid; Stomach Neoplasms; Leukemia, Myeloid, Acute; Myelodysplastic Syndromes; Neoplasms, Connective Tissue; Anemia
PubMed: 38565228
DOI: 10.1136/bcr-2023-258856 -
Clinical Case Reports Apr 2024Identifying myeloid sarcoma in rare locations is a diagnostic challenge and requires careful evaluation. The optimal management of extramedullary disease requires...
KEY CLINICAL MESSAGE
Identifying myeloid sarcoma in rare locations is a diagnostic challenge and requires careful evaluation. The optimal management of extramedullary disease requires further investigation, but tissue biopsy and a personalized approach are crucial.
ABSTRACT
Herein, we describe an unusual case of acute myeloid leukemia presenting with an isolated involvement of the temporal bone after a complete remission of systemic disease for more than a year. The clinical, radiological, and pathological features are discussed, highlighting the importance of considering differential diagnoses and appropriate management.
PubMed: 38550726
DOI: 10.1002/ccr3.8717 -
Antibodies (Basel, Switzerland) Mar 2024Ewing sarcoma is a rare tumor of the bone or soft tissues characterized by diffuse membranous staining for CD99. As this tumor remains incurable in the metastatic,...
BACKGROUND
Ewing sarcoma is a rare tumor of the bone or soft tissues characterized by diffuse membranous staining for CD99. As this tumor remains incurable in the metastatic, relapsed, and refractory settings, we explored the downstream immune implications of targeting CD99.
METHODS
We discovered a human anti-CD99 antibody (NOA2) by phagemid panning and investigated NOA2 immune cell-mediated cytotoxicity in vitro and in vivo focusing on the myeloid cell compartment, given that M2 macrophages are present in human tumors and associated with a poor prognosis.
RESULTS
NOA2 is capable of inducing immune effector cell-mediated Ewing death in vitro via engagement of macrophages. Mice with metastatic Ewing tumors, treated with NOA2, experience tumor growth arrest and an associated increase in intratumoral macrophages. Further, incubation of macrophages and Ewing cells with NOA2, in conjunction with anti-PILRα antibody blockade in vitro, results in the reactivation of previously dormant macrophages possibly due to interrupted binding of Ewing CD99 to macrophage PILRα.
CONCLUSIONS
These studies are the first to demonstrate the role of human immune effector cells in anti-CD99-mediated Ewing tumor death. We propose that the engagement of CD99 by NOA2 results in the recruitment of intratumoral macrophages. In addition, interruption of the CD99:PILRα checkpoint axis may be a relevant therapeutic approach to activate tumor-associated macrophages.
PubMed: 38534214
DOI: 10.3390/antib13010024 -
Laryngoscope Investigative... Apr 2024Hematologic malignancy involving the trachea is rare. It is even less common for tracheal involvement to be the initial manifestation of this disease. We present a case...
OBJECTIVES
Hematologic malignancy involving the trachea is rare. It is even less common for tracheal involvement to be the initial manifestation of this disease. We present a case report highlighting an unusual diagnosis of acute myeloid leukemia (AML) that first presented with prominent tracheal manifestations. There have been only three other published case reports of extramedullary AML with involvement of the trachea.
METHODS
We discuss direct laryngoscopy and bronchoscopy findings, including pinkish-white irregular lesions, which were similar to findings described in the available literature for tracheal AML.
RESULTS
Laboratory findings from our case are reported, including peripheral smear demonstrating 57% blasts and bone marrow biopsy confirming the diagnosis of AML, and the relevance of these findings is discussed.
CONCLUSION
In patients with unusual airway lesions, laboratory testing and a comprehensive airway evaluation including biopsy are necessary to narrow the differential diagnosis.
LEVEL OF EVIDENCE
5.
PubMed: 38525124
DOI: 10.1002/lio2.1231 -
Case Reports in Gastrointestinal... 2024Myeloid sarcoma (MS) is an extramedullary manifestation of acute myeloid leukemia (AML) and commonly occurs in sites such as the lymph nodes, skin, soft tissues, and...
Myeloid sarcoma (MS) is an extramedullary manifestation of acute myeloid leukemia (AML) and commonly occurs in sites such as the lymph nodes, skin, soft tissues, and bone. It more rarely manifests in the pancreas, with less than 20 cases reported in the literature since 1987. Despite its rarity, MS should be considered in the differential diagnosis of a soft tissue mass causing obstructive jaundice, especially if the patient has a known hematologic disease. Isolated cases of pancreatic MS have been known to progress to AML; therefore, it is crucial to differentiate MS from more common diagnoses, such as pancreatic cancer or pancreatitis. This is a case of a 70-year-old male with symptomatic obstructive jaundice secondary to pancreatic MS, ultimately requiring endoscopic ultrasound (EUS) and endoscopic retrograde cholangiopancreatography (ERCP) for diagnosis and management. Also included is a comprehensive review of previous case reports with similar clinical presentations, management, and treatment of pancreatic MS.
PubMed: 38500609
DOI: 10.1155/2024/5513857 -
Frontiers in Oncology 2024Variations in mutation rates among acute myeloid leukemia (AML) patients with myeloid sarcoma (MS) underscore the need for a thorough examination. This meta-analysis was...
INTRODUCTION
Variations in mutation rates among acute myeloid leukemia (AML) patients with myeloid sarcoma (MS) underscore the need for a thorough examination. This meta-analysis was conducted to fill the information gap concerning mutation frequencies in AML patients presenting with MS.
MATERIALS AND METHODS
This study included retrospective and prospective cohorts. It examined genetic alterations in AML patients with and without MS across all age groups. The search strategy employed terms such as "acute myeloid leukemia," "extramedullary," "granulocytic sarcoma," "myeloid sarcoma," and "leukemic cutis" in the EMBASE, MEDLINE, and Scopus databases. Excluded from the study were reviews, case reports, and case series with fewer than 10 cases. Statistical analyses were performed with Review Manager 5.4 software.
RESULTS
The primary analysis incorporated data from 37 cohorts involving 5646 diagnosed AML patients and revealed a 17.42% incidence of MS. The most prevalent mutation among AML patients with MS was -ITD, with a pooled prevalence of 17.50% (95% CI 12.60% to 22.50%; I 82.48%). The dominant fusion gene was , displaying a pooled prevalence of 28.10% (95% CI 15.10% to 41.20%; I 96.39%). In comparison, no significant intergroup differences were observed for , -ITD, , and mutations. Interestingly, the mutation exhibited protective effects for MS patients, with an odds ratio of 0.51 (95% CI 0.32 to 0.81; I 0%). Conversely, the mutation was associated with an increased risk of MS development, with an odds ratio of 5.07 (95% CI 1.87 to 13.73; I 0%).
CONCLUSION
This meta-analysis sheds light on the prevalence of genetic mutations in AML patients with MS, providing insights into the unique characteristics of the mutations and their frequencies. These discoveries are crucial in informing therapeutic and prognostic decisions for individuals with myeloid sarcoma.
PubMed: 38496752
DOI: 10.3389/fonc.2024.1325431 -
Diagnostic Cytopathology Jun 2024Myeloid sarcoma (MS) is an uncommon localized extramedullary tumor composed of immature myeloid precursor cells that can affect any organ. Promyelocytic sarcoma (PS), an...
Myeloid sarcoma (MS) is an uncommon localized extramedullary tumor composed of immature myeloid precursor cells that can affect any organ. Promyelocytic sarcoma (PS), an extremely rare subtype of MS, is characterized by immature myeloid cells with features of acute promyelocytic leukemia (APL). We describe a case of pediatric PS that presented as a solitary sacral mass without any evidence of systemic or bone marrow involvement. The cytopathologic evaluation using touch imprint demonstrated numerous blasts with bilobed nuclei, cytoplasmic hyper-granularity, and aggregates of Auer rods, which are typical cytomorphologic features of APL. Herein, we report an extremely rare case of isolated PS in a child, emphasizing the importance of cytomorphologic evaluation, which is complemented by the findings from a comprehensive work-up.
Topics: Humans; Sarcoma, Myeloid; Sacrum; Male; Child; Leukemia, Promyelocytic, Acute
PubMed: 38494827
DOI: 10.1002/dc.25304 -
Pediatric Blood & Cancer Jun 2024
PubMed: 38462746
DOI: 10.1002/pbc.30946 -
Journal of Breast Imaging Jul 2023Myeloid sarcoma (MS) is a rare extramedullary solid tumor arising most often in patients with current or subsequent acute myeloid leukemia (AML). Patients of all ages... (Review)
Review
Myeloid sarcoma (MS) is a rare extramedullary solid tumor arising most often in patients with current or subsequent acute myeloid leukemia (AML). Patients of all ages may present with involvement of the skin, lymph nodes, intestinal tract, bone, and/or central nervous system. Isolated involvement of the breast is rare, and only a small number of cases have been described in the literature. Breast MS may present as a palpable mass on clinical evaluation. In this broad literature review from 2010 to 2022, the most common findings on mammography are either solitary or multiple masses, followed by architectural distortion and, less commonly, no discrete findings. Sonography may demonstrate hypoechoic or mixed echogenicity mass(es) with circumscribed or indistinct, not discrete margins. Myeloid sarcoma may present as an enhancing mass or nonmass enhancement on breast MRI and is typically moderately radiotracer avid on 18F-fluorodeoxyglucose-PET. At histopathology, MS is characterized by myeloid blasts in varying stages of granulocytic or neutrophilic maturation; diagnosis typically requires immunophenotyping. There is no consensus for treatment of MS, although systemic chemotherapy for AML is often used as MS is considered the tissue equivalent of AML. This article will discuss and illustrate imaging and pathology findings when the breast is involved by MS.
Topics: Female; Humans; Breast Neoplasms; Leukemia, Myeloid, Acute; Magnetic Resonance Imaging; Mammography; Sarcoma, Myeloid
PubMed: 38416899
DOI: 10.1093/jbi/wbad019 -
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