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BMC Women's Health Mar 2023To describe myeloid sarcoma (MS) that mimic gynecological tumors and provide guidelines for improving the diagnosis and treatment of patients.
OBJECTIVE
To describe myeloid sarcoma (MS) that mimic gynecological tumors and provide guidelines for improving the diagnosis and treatment of patients.
METHODS
This case series study retrospectively analyzed the clinicopathological characteristics and oncological outcomes of female patients who were histologically diagnosed with MS after initially presenting with reproductive-system tumors at the Peking Union Medical College Hospital between January 2000 and March 2022.
RESULTS
There were eight cases in which MS mimicked cervical cancer, ovarian cancer, or hysteromyoma. Six patients had isolated MS, and the other two had acute myeloid leukemia (AML)-M2. The average age was 39.00 ± 14.26. They each sought advice from a gynecological oncologist at the initial visit, complaining of irregular bleeding (3/8), low abdominal pain (3/8), dysmenorrhea (1/8), or an accidentally found mass (1/8). CT/MRI exams revealed that the average tumor size reached 5.65 ± 2.35 cm, with 50% of the tumors being larger than 8 cm. The final diagnoses were confirmed by biopsy (2/8) or postoperative pathology (6/8); the most frequent positive immunohistochemical markers were Ki-67 (60-90%), MPO (100%), LCA (62.5%), CD43 (62.5%), CD117 (62.5%), CD99 (50%), vimentin (37.5%), and lysozyme (25%). MLL/AF9 gene fusions and CEBPA, JAK2, NRAS, and FLT3-TKD mutations were found in the patients. Six (75%) of the patients showed a complete response after upfront treatment using chemotherapy + surgery and experienced no recurrence during follow-up. The overall survival (OS) rate was 72.9%, and the 5-year OS rate was 72.9% (95%CI: 0.4056-1.000). The median OS was 26 months (range: 3-82).
CONCLUSION
For patients with isolated MS, treatment by chemotherapy and surgery are radical procedure, and initial treatment using chemotherapy alone should be considered for MS with synchronous intramedullary AML. Poor response to chemotherapy, short interval to leukemia occurrence, and heavy tumor burden (> 10 cm) could indicate a poor prognosis for patients with MS.
Topics: Humans; Female; Young Adult; Adult; Middle Aged; Sarcoma, Myeloid; Retrospective Studies; Genital Neoplasms, Female; Leukemia, Myeloid, Acute; Survival Rate; Prognosis
PubMed: 36978050
DOI: 10.1186/s12905-023-02278-3 -
International Journal of Hematology Sep 2023Acute pancreatitis is an acute inflammatory process of the pancreas that is becoming an increasingly common clinical issue. The most frequent underlying etiologies...
Acute pancreatitis is an acute inflammatory process of the pancreas that is becoming an increasingly common clinical issue. The most frequent underlying etiologies include gallstones and chronic alcohol use, which account for more than two-thirds of cases. We recently experienced a rare case of acute myeloid leukemia (AML) presenting with recurrent acute pancreatitis, which we later discovered was caused by diffusely infiltrating extramedullary sarcoma in the pancreas. Comprehensive analysis of previous cases of AML presenting as acute pancreatitis suggested involvement of cytogenetic alterations in chromosome 16 in its pathogenesis. Further improvement in management of acute pancreatitis is needed, and clinicians should note that this occasionally fatal condition can be the initial and only manifestation of AML. In practice, prompt initiation of intensive chemotherapy is critical for treating such cases of AML-induced acute pancreatitis.
Topics: Humans; Acute Disease; Chromosomes, Human, Pair 16; Pancreatitis; Leukemia, Myeloid, Acute; Gene Rearrangement
PubMed: 36964839
DOI: 10.1007/s12185-023-03580-4 -
Head and Neck Pathology Mar 2023Oral ulcers represent a full thickness loss of the mucosal epithelium leading to exposure of the submucosal connective tissue. These are common and usually... (Review)
Review
BACKGROUND
Oral ulcers represent a full thickness loss of the mucosal epithelium leading to exposure of the submucosal connective tissue. These are common and usually self-limited lesions, although they may sometimes result from neoplasms, most commonly squamous cell carcinoma. Lymphoproliferative disorders may be difficult to diagnose in apthous ulcers since they mimic reactive inflammation.
METHODS
This review presents ten rare oral lymphoid proliferations which should not be missed when assessing oral ulcer biopsies.
RESULTS
The ten lesions include several with diagnostic cells which look similar to the histiocytes of a reactive inflammatory ulcer, including Rosai-Dorfman disease, reticulohistiocytoma, Langerhans cell histiocytosis, and traumatic ulcerative granuloma. Other lesions, such as EBV-positive mucocutaneous ulcer, extranodal marginal zone lymphoma of mucosal-associated lymphoid tissue, and plasmablastic lymphoma have lymphoid and/or plasma cell differentiation that mimic the reactive lymphocytes and plasma cells found in reactive ulcers. Two dendritic cell lesions, follicular dendritic cell sarcoma and blastic plasmacytoid dendritic cell neoplasm, both have distinct phenotypes which are required to make an accurate diagnosis.
CONCLUSION
Each of these lesions are diagnosed by evaluating their histology, along with their phenotypic profile, which is sometimes enhanced by pertinent molecular findings.
Topics: Humans; Oral Ulcer; Biopsy; Lymphoproliferative Disorders; Histiocytes
PubMed: 36928739
DOI: 10.1007/s12105-023-01532-2 -
European Journal of Medicinal Chemistry May 2023Ewing Sarcoma (ES) is a cancer of bone and soft tissues affecting mostly children and young adults. Aggressive progression and poor prognosis of this malignancy call for...
Ewing Sarcoma (ES) is a cancer of bone and soft tissues affecting mostly children and young adults. Aggressive progression and poor prognosis of this malignancy call for novel and targeted treatments. CD99 is a transmembrane protein that is abundantly expressed on ES cells and is a diagnostic marker for the disease. ES cells are selectively sensitive to CD99 inhibition compared to most normal cells and other tumors. Therefore, CD99 is a good molecular target for ES treatment. Clofarabine and cladribine are two FDA approved drugs that are administered for their inhibitory acts on DNA synthesis to treat relapsed or refractory acute lymphoblastic and myeloid leukemia. They have also been shown to directly bind to CD99 and inhibit ES growth through a distinct mechanism. In the current study, we designed, synthesized and tested new ES specific derivatives of both drugs that would continue to target CD99 but with expected reduction in cellular membrane permeability and rendered unsuitable for inhibiting DNA synthesis. By using commercially available clofarabine and cladribine purine nucleoside analogs, we modified the primary alcohol moiety at the deoxyribose C-5' terminal site to suppress phosphorylation and thus inhibition of subsequent DNA synthesis pathways. In addition, we incorporated a variety of polar groups in the ribose and purine rings to reduce membrane permeability and investigated the effects of configurational changes in the sugar moiety. Among 26 new derivatives, we identified two compounds, BK50164 and BK60106, that cause cell death specifically in ES primarily due to inhibition of CD99 but not via inhibition of DNA synthesis. These findings provide a road map for the future development selective CD99 inhibitors for targeted treatment of ES.
Topics: Child; Humans; Sarcoma, Ewing; Cell Adhesion Molecules; Clofarabine; Cladribine; DNA; 12E7 Antigen
PubMed: 36917882
DOI: 10.1016/j.ejmech.2023.115244 -
Cancer Medicine Apr 2023Myeloid sarcoma (MS) is a rare, extramedullary tumor consisting of myeloid blasts. Little is known about the genetic background of MS and the prognostic value of genetic...
BACKGROUND
Myeloid sarcoma (MS) is a rare, extramedullary tumor consisting of myeloid blasts. Little is known about the genetic background of MS and the prognostic value of genetic abnormalities in MS. In particular, the broad variety of gene fusions that occur in MS is marginally covered by traditional testing methods due to lack of fresh tumor specimens.
METHODS
Here, we analyzed the clinical and genetic features of 61 MS cases. We performed RNA sequencing (RNA-seq) on formalin-fixed paraffin-embedded (FFPE) or fresh samples to analyze fusion genes in 26 cases. In addition, we performed genetic abnormalities-based risk stratification using fusion genes and gene mutations.
RESULTS
A total of 305 fusion genes were identified in 22 cases, including the following five recurrent fusion genes: RUNX1-RUNX1T1, CBFβ-MYH11, ETV6-MECOM, FUS-ERG, and PICALM-MLLT10. The prognosis in the adverse-risk group was significantly worse than that in the favorable/intermediate-risk group (median survival: 12 months vs. not reached; p = 0.0004).
CONCLUSION
These results indicated the efficacy of RNA-seq using FFPE-derived RNA as a clinical routine for detecting fusion genes, which can be used as markers for risk stratification in MS.
Topics: Humans; Sarcoma, Myeloid; Base Sequence; Mutation; Transcription Factors; Sequence Analysis, RNA; Oncogene Proteins, Fusion
PubMed: 36916780
DOI: 10.1002/cam4.5654 -
Cancers Feb 2023Myeloid sarcomas (MS), commonly referred to as chloromas, are extramedullary tumors of acute myeloid leukemia (AML) with varying incidence and influence on outcomes.... (Review)
Review
Myeloid sarcomas (MS), commonly referred to as chloromas, are extramedullary tumors of acute myeloid leukemia (AML) with varying incidence and influence on outcomes. Pediatric MS has both a higher incidence and unique clinical presentation, cytogenetic profile, and set of risk factors compared to adult patients. Optimal treatment remains undefined, yet allogeneic hematopoietic stem cell transplantation (allo-HSCT) and epigenetic reprogramming in children are potential therapies. Importantly, the biology of MS development is poorly understood; however, cell-cell interactions, epigenetic dysregulation, cytokine signaling, and angiogenesis all appear to play key roles. This review describes pediatric-specific MS literature and the current state of knowledge about the biological determinants that drive MS development. While the significance of MS remains controversial, the pediatric experience provides an opportunity to investigate mechanisms of disease development to improve patient outcomes. This brings the hope of better understanding MS as a distinct disease entity deserving directed therapeutic approaches.
PubMed: 36900239
DOI: 10.3390/cancers15051443 -
European Heart Journal. Case Reports Mar 2023Myeloid sarcoma, also known as chloroma, is a pathologic diagnosis for an extramedullary proliferation of blasts of one or more of the myeloid lineages. It is an...
BACKGROUND
Myeloid sarcoma, also known as chloroma, is a pathologic diagnosis for an extramedullary proliferation of blasts of one or more of the myeloid lineages. It is an uncommon manifestation of acute myeloid leukaemia (AML), although the diagnosis may occur prior to or after diagnosis of AML. Cardiac infiltration by myeloid sarcoma is extremely rare, and of the few published cases, a diagnosis of leukaemia was almost always already present.
CASE SUMMARY
This is a 52-year-old patient admitted to the hospital with acute shortness of breath, with a large amorphous mass found on computed tomography scan invading the myocardium and causing heart failure. Echocardiography demonstrated multiple cardiac masses. A bone marrow biopsy was non-diagnostic. An endomyocardial biopsy confirmed a cardiac primary myeloid sarcoma. The patient was successfully treated with chemotherapy with complete resolution of the cardiac infiltration and of the heart failure.
DISCUSSION
We present this rare case of primary cardiac myeloid sarcoma and discuss current literature relevant to this effectively unique presentation. We discuss the use of endomyocardial biopsy in the diagnosis of cardiac malignancy and the advantages of early diagnosis and management of this unusual cause of heart failure.
PubMed: 36895307
DOI: 10.1093/ehjcr/ytad088 -
Surgical Neurology International 2023Myeloid sarcoma is an uncommon malignant neoplasm that typically arises at extramedullary sites and is associated with a diagnosis of acute myeloid leukemia. While...
BACKGROUND
Myeloid sarcoma is an uncommon malignant neoplasm that typically arises at extramedullary sites and is associated with a diagnosis of acute myeloid leukemia. While myeloid sarcoma can involve any organ, central nervous system involvement is rare, particularly in the adult population.
CASE DESCRIPTION
An 87-year-old female presented with progressive paraparesis of 5 days' duration. The magnetic resonance imaging (MRI) revealed an epidural tumor from T4 to T7 with cord compression. When she underwent a laminectomy for tumor resection, the pathology revealed a myeloid sarcoma with monocytic differentiation. Although she improved postoperatively, she elected to pursue hospice care and expired 4 months later.
CONCLUSION
Myeloid sarcoma is an uncommon malignant spinal neoplasm rarely seen in adults. For this 87-year-old female, MRI-documented cord compression warranted decompressive surgery. Although this patient did not opt for adjuvant therapy, other patients with such lesions may undergo additional chemotherapy or radiation therapy. Nevertheless, optimal management for such malignant tumor is still undefined.
PubMed: 36895207
DOI: 10.25259/SNI_1167_2022 -
Diagnostic Pathology Mar 2023Myeloid Sarcoma with monocytic differentiation is rare and quite likely is missed by surgical pathologists. However it is frequently misdiagnosed because of its...
BACKGROUND
Myeloid Sarcoma with monocytic differentiation is rare and quite likely is missed by surgical pathologists. However it is frequently misdiagnosed because of its non-specific imaging and histological pattern.
CASE PRESENTATION
We report the case of a 64-year-old woman with gastric primary myeloid sarcoma with monocytic differentiatio. Upper endoscopy revealed a neoplastic growth at the junction of the lesser curvature and gastric antrum. Except for a slightly increased peripheral monocyte count, no abnormalities were found on hematological and bone-marrow examination. Gastroscopic biopsy showed poorly differentiated atypical large cells with visible nucleoli and nuclear fission. Immunohistochemistry showed positive CD34, CD4, CD43, and CD56 expression, and weakly positive lysozyme expression. Immune markers for poorly differentiated adenocarcinoma, malignant melanoma, and lymphohematopoietic-system tumors were negative. The final diagnosis was myeloid sarcoma with monocytic differentiation. Chemotherapy did not shrink the tumor, so, radical surgery was performed. Although the tumor morphology did not change postoperatively, the immunophenotype did. CD68 and lysozyme expression (tumor tissue markers) changed from negative and weakly positive to strongly positive, AE1/3 expression (epithelial marker) changed from negative to positive, and CD34, CD4, CD43, and CD56 expression (common in naive hematopoietic cell-derived tumors) was greatly attenuated. Exome sequencing revealed missense mutations in FLT3 and PTPRB, which are associated with myeloid sarcoma, and in TP53, CD44, CD19, LTK, NOTCH2, and CNTN2, which are associated with lymphohematopoietic tumors and poorly differentiated cancers.
CONCLUSION
We diagnosed myeloid sarcoma with monocytic differentiation after excluding poorly differentiated adenocarcinoma, common lymphohematopoietic-system tumors, epithelioid sarcoma, and malignant melanoma. We identified that the immunophenotypic of patient had alterations after chemotherapy, and FLT3 gene mutations. We hope that the above results will improve our understanding of this rare tumor.
Topics: Female; Humans; Middle Aged; Muramidase; Sarcoma, Myeloid; Exome Sequencing; Melanoma; Adenocarcinoma; Hematologic Neoplasms; Cell Differentiation; Melanoma, Cutaneous Malignant
PubMed: 36871023
DOI: 10.1186/s13000-023-01311-1 -
Journal of Contemporary Brachytherapy Dec 2022Acute myeloid leukemia (AML) may extend to extra-medullary sites at diagnosis or at relapse, either isolated or associated with bone marrow disease. Granulocytic sarcoma...
Acute myeloid leukemia (AML) may extend to extra-medullary sites at diagnosis or at relapse, either isolated or associated with bone marrow disease. Granulocytic sarcoma of uterine cervix is rare, and there is no established treatment for this disease. Two cases of uterine cervix-limited AML relapse showed that brachytherapy may be an effective therapeutic option in this setting along with chemotherapy, with good tolerance.
PubMed: 36819473
DOI: 10.5114/jcb.2022.123980