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Acta Cytologica 2023Myeloid sarcoma (MS) is a rare extramedullary tumor consisting of blasts of granulocytic, monocytic, erythroid, or megakaryocytic lineage that disrupts the architecture...
INTRODUCTION
Myeloid sarcoma (MS) is a rare extramedullary tumor consisting of blasts of granulocytic, monocytic, erythroid, or megakaryocytic lineage that disrupts the architecture of the involved tissue. MS shows vast clinical, morphologic, immunophenotypic, and genetic heterogeneity posing a diagnostic dilemma, especially in small biopsy specimens such as fine-needle aspiration (FNA) and core biopsy. The objective of this study is to highlight the morphologic features of MS in cytological preparations and investigate the efficacy of pathologist-performed rapid on-site evaluation (ROSE) in assuring accurate triage.
METHODS
A retrospective review was performed for cases of MS with concurrent cytology and ROSE results from 2006 to 2017. FNA smears and touch preparations were reviewed, and the results of ROSE, immunohistochemistry (IHC), flow cytometric immunophenotyping (FCI), cytogenetics/FISH, and histology were analyzed.
RESULTS
A total of 15 cases were found including 6 (40%) with monocytic morphology comprising promonocytes and monoblasts and 9 (60%) with conventional myeloblastic morphology. The most common genetic subgroup was KMT2A-rearranged MS (33.3%) followed by extramedullary blast crisis of chronic myeloid leukemia (26.6%). ROSE provided sufficient preliminary information and ensured the procurement of adequate tissue for histology, IHCs, FCI, and cytogenetics/FISH, leading to an accurate and complete diagnosis of MS in all cases.
DISCUSSION/CONCLUSION
MS is a rare malignancy that shows pronounced clinical, morphologic, immunophenotypic, and genetic heterogeneity that often overlaps with other neoplastic and non-neoplastic entities. Features including the presence of classic myeloblasts, promonocytes, monoblasts, nucleated red blood cells, left-shifted granulocytes, cytoplasmic granules, and pseudopods are helpful hints in cytological preparations. In the modern era where pathologists are increasingly expected to do extensive diagnostic, molecular, and therapeutic biomarker testing on tissue that is historically diminishing in size, ROSE is a highly effective tool to ensure effective triage of MS aiding in an accurate, timely, and complete diagnosis.
Topics: Humans; Sarcoma, Myeloid; Rapid On-site Evaluation; Triage; Neoplasms; Biopsy, Fine-Needle
PubMed: 36318898
DOI: 10.1159/000526635 -
JACC. Case Reports Jun 2021A 53-year-old man with a background of acute myelomonocytic leukemia in remission presented with pleurisy. Repeat transthoracic echocardiography over several weeks...
A 53-year-old man with a background of acute myelomonocytic leukemia in remission presented with pleurisy. Repeat transthoracic echocardiography over several weeks revealed thickening left ventricular walls and decreasing systolic function. He died of decompensated heart failure due to cardiac myeloid sarcoma, with autopsy revealing an enlarged heart weighing >1 kg. ().
PubMed: 34317666
DOI: 10.1016/j.jaccas.2021.04.033 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Acute myeloid leukemia (AML) is a hematological malignancy affecting different organ systems including the eye. The purpose of this review is to present and evaluate the... (Review)
Review
Acute myeloid leukemia (AML) is a hematological malignancy affecting different organ systems including the eye. The purpose of this review is to present and evaluate the medical literature regarding the early ophthalmological manifestations of acute myeloid leukemia. AML affects the ocular system through direct infiltration of tissues, secondary to hematological abnormalities, or in the form of chloroma or myeloid sarcoma in the brain or orbit consequently leading to a variety of manifestations depending on the ocular tissue involved. It is imperative for ophthalmologists to be aware of the early ophthalmological manifestations of AML which will allow for earlier diagnosis and treatment of this life-threatening disease.
PubMed: 35800672
DOI: 10.2147/OPTH.S342720 -
Seminars in Diagnostic Pathology Nov 2023Histiocytic neoplasms in the children are very rare, and histiocytoses can occur in the perinatal period. The presumed origins and presentation of specific histiocytoses... (Review)
Review
Histiocytic neoplasms in the children are very rare, and histiocytoses can occur in the perinatal period. The presumed origins and presentation of specific histiocytoses in the pediatric age group are described. Common and newly described histiocytoses are presented including Langerhans cell histiocytosis, Rosai-Dorfman disease, histiocytic sarcoma, ALK positive histiocytosis, and hemophagocytic lymphohistiocytosis. Molecular findings common to pediatric histiocytoses are also discussed.
Topics: Humans; Child; Histiocytes; Cell Transdifferentiation; Histiocytosis; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus
PubMed: 37258365
DOI: 10.1053/j.semdp.2023.05.003 -
International Journal of Hematology May 2021We performed a retrospective study describing the characteristics of myeloid sarcoma (MS) and evaluated the outcome of hematopoietic stem cell transplantation (HSCT) in...
We performed a retrospective study describing the characteristics of myeloid sarcoma (MS) and evaluated the outcome of hematopoietic stem cell transplantation (HSCT) in patients with MS. There were 27 patients with de novo isolated MS, 34 with de novo leukemic MS and 13 with secondary leukemic MS in our study. Sixty-three patients received induction chemotherapy. Following induction therapy, 35 patients underwent HSCT, including 10 autogenous HSCT (auto-HSCT) and 25 allogeneic HSCT (allo-HSCT) cases. Compared with intensive chemotherapy only as consolidation treatment, HSCT (auto-/allo-HSCT) significantly improved the overall survival (OS) of MS patients (p < 0.05), while allo-HSCT also improved progression-free survival (PFS, p = 0.032). According to multivariate analysis, poorer prognosis in terms of OS was observed in older patients (p = 0.024, HR = 1.030, 95% CI 1.004-1.057), while HSCT (auto/allo-HSCT) had a favorable impact on OS for patients with MS (auto-HSCT, p = 0.044, HR = 0.201, 95% CI 0.042-0.959; allo-HSCT, p = 0.038, HR = 0.341, 95% CI 0.124-0.943). Extramedullary disease without complete remission (CR) after induction therapy was the sole variable independent of high OS and PFS (p = 0.049, HR = 2.243, 95% CI: 1.005-5.005; p = 0.017, HR = 2.535, 95% CI 1.180-5.448, respectively). The data indicate that HSCT is an effective treatment for patients with MS who have achieved CR of extramedullary disease after induction therapy.
Topics: Adolescent; Adult; Aged; Child; Female; Hematopoietic Stem Cell Transplantation; Humans; Induction Chemotherapy; Male; Middle Aged; Retrospective Studies; Sarcoma, Myeloid; Transplantation, Autologous; Transplantation, Homologous; Treatment Outcome; Young Adult
PubMed: 33511548
DOI: 10.1007/s12185-021-03081-2 -
BMC Cancer Nov 2019Myeloid sarcoma (MS), also known as chloroma, is an extramedullary manifestation of malignant primitive myeloid cells. Previously, only small studies investigated...
BACKGROUND
Myeloid sarcoma (MS), also known as chloroma, is an extramedullary manifestation of malignant primitive myeloid cells. Previously, only small studies investigated clinical and imaging features of MS. The purpose of this study was to elucidate clinical and imaging features of MS based upon a multicenter patient sample.
METHODS
Patient records of radiological databases of 4 German university hospitals were retrospectively screened for MS in the time period 01/2001 and 06/2019. Overall, 151 cases/76 females (50.3%) with a mean age of 55.5 ± 15.1 years and 183 histopathological confirmation or clinically suspicious lesions of MS were included into this study. The underlying hematological disease, localizations, and clinical symptoms as well as imaging features on CT and MRI were investigated.
RESULTS
In 15 patients (9.9% of all 151 cases) the manifestation of MS preceded the systemic hematological disease. In 43 cases (28.4%), first presentation of MS occurred simultaneously with the initial diagnosis of leukemia, and 92 (60.9%) patients presented MS after the initial diagnosis. In 37 patients (24.5%), the diagnosis was made incidentally by imaging. Clinically, cutaneous lesions were detected in 35 of 151 cases (23.2%). Other leading symptoms were pain (n = 28/151, 18.5%), neurological deficit (n = 27/151, 17.9%), swelling (n = 14/151, 9.3%) and dysfunction of the affected organ (n = 10/151, 6.0%). Most commonly, skin was affected (n = 30/151, 16.6%), followed by bone (n = 29/151, 16.0%) and lymphatic tissue (n = 21/151, 11.4%). Other localizations were rare. On CT, most lesions were homogenous. On T2-weighted imaging, most of the lesions were hyperintense. On T1-weighted images, MS was hypointense in n = 22/54 (40.7%) and isointense in n = 30/54 (55.6%). A diffusion restriction was identified in most cases with a mean ADC value of 0.76 ± 0.19 × 10 mm/s.
CONCLUSIONS
The present study shows clinical and imaging features of MS based upon a large patient sample in a multicenter design. MS occurs in most cases meta-chronous to the hematological disease and most commonly affects the cutis. One fourth of cases were identified incidentally on imaging, which needs awareness of the radiologists for possible diagnosis of MS.
Topics: Adult; Aged; Diagnostic Imaging; Female; Germany; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Middle Aged; Proportional Hazards Models; Retrospective Studies; Sarcoma, Myeloid; Symptom Assessment; Tomography, X-Ray Computed
PubMed: 31775680
DOI: 10.1186/s12885-019-6357-y -
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 -
Seminars in Cancer Biology Feb 2020The development of a myeloid neoplasm is a step-wise process that originates from leukemic stem cells (LSC) and includes pre-leukemic stages, overt leukemia and a... (Review)
Review
The development of a myeloid neoplasm is a step-wise process that originates from leukemic stem cells (LSC) and includes pre-leukemic stages, overt leukemia and a drug-resistant terminal phase. Organ-invasion may occur in any stage, but is usually associated with advanced disease and a poor prognosis. Sometimes, extra-medullary organ invasion shows a metastasis-like or even sarcoma-like destructive growth of neoplastic cells in local tissue sites. Examples are myeloid sarcoma, mast cell sarcoma and localized blast phase of chronic myeloid leukemia. So far, little is known about mechanisms underlying re-distribution and extramedullary dissemination of LSC in myeloid neoplasms. In this article, we discuss mechanisms through which LSC can mobilize out of the bone marrow niche, can transmigrate from the blood stream into extramedullary organs, can invade local tissue sites and can potentially create or support the formation of local stem cell niches. In addition, we discuss strategies to interfere with LSC expansion and organ invasion by targeted drug therapies.
Topics: Animals; Biomarkers; Bone Marrow; Cell Communication; Cell Movement; Humans; Immunophenotyping; Leukemia, Myeloid; Neoplasm Staging; Neoplastic Stem Cells; Phenotype; Recurrence; Transendothelial and Transepithelial Migration; Tumor Microenvironment
PubMed: 31408723
DOI: 10.1016/j.semcancer.2019.07.025 -
Chinese Clinical Oncology Jun 2020Pain in abdomen has wide differentials and narrowing down the clinical possibilities depends on type of pain, location, characterization which is usually assisted by... (Review)
Review
Pain in abdomen has wide differentials and narrowing down the clinical possibilities depends on type of pain, location, characterization which is usually assisted by imaging studies. Cholecystitis and cholelithiasis are amongst the common causes of acute abdomen. This study reviews the literature for the clinical characteristics, differential diagnosis, treatment and prognosis of reported cases of gallbladder myeloid sarcoma (GB-MS) who presented with abdominal symptoms. A total of 17 cases of GB-MS were studied. The median age was 52 years with age range of 23 to 84 years. All except 1 patient presented with abdominal symptoms. Based on imaging or pathological studies, 3 cases were initially confused with gallbladder lymphoma or cancer. Only 5 patients were treated with AML like chemotherapy. Treatment given included combinations of surgery, chemotherapy, and radiotherapy. None of the cases underwent HSCT for GB-MS. Seven patients were alive till the time of last F/U, 9 succumbed to death while F/U of 1 patient was not available. Irrespective of treatment protocol followed suggesting the poor prognosis in GB-MS cases. In conclusion, acute abdomen complicating blood malignancies is life threatening and can be devastating if not detected and treated in a timely fashion.
Topics: Adult; Aged; Aged, 80 and over; Female; Gallbladder Neoplasms; Humans; Male; Middle Aged; Sarcoma, Myeloid; Young Adult
PubMed: 32434344
DOI: 10.21037/cco-19-250 -
Laboratory Medicine Jan 2022Unusual presentations of otherwise common hematopoietic neoplasms are a well-recognized diagnostic challenge. Herein, we present a case study of a previously healthy 64... (Review)
Review
Unusual presentations of otherwise common hematopoietic neoplasms are a well-recognized diagnostic challenge. Herein, we present a case study of a previously healthy 64 year old woman with myeloid sarcoma whose diagnosis was delayed by an unusual immunohistochemical staining pattern, including cytokeratin expression, by the neoplastic cells and by possible anchoring bias introduced by radiographic and flow cytometric immunophenotyping reports. This case study emphasizes the need to integrate clinical, radiographic, histologic, and immunophenotyping data for rapid and accurate tissue diagnoses while being wary of the lack of specificity for many common immunophenotypic markers.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Immunophenotyping; Keratins; Middle Aged; Sarcoma, Myeloid
PubMed: 34388257
DOI: 10.1093/labmed/lmab025