ABSTRACT
Myeloid sarcoma (MS) occurs in patients with acute myeloid leukemia (AML). In rare cases, MS can represent a form of blast transformation in patients with myeloproliferative neoplasms (MPN), myelodysplastic neoplasms (MDS), or MDS/MPN. The most frequent chromosomal alterations in MS are t(8;21) or inv(16), with other alterations being reported. Cases of MS in Janus kinase 2 (JAK2)-positive MDS with fibrosis are exceedingly rare. Here, we describe such a case. To the best of our knowledge, this is the first report of a JAK2 V617F mutation-positive MDS case occurring concurrently with MS involving the posterior aspect of the left seventh rib. No clear association has been previously demonstrated between the intramedullary AML cytogenetics and extramedullary disease occurrence. Interestingly, samples from the intramedullary MDS and extramedullary mass in this patient presented the same JAK2 V617F mutation. Following a treatment regimen of azacitidine and venetoclax, the patient achieved complete remission. The chest CT scan showed that the seventh posterior rib mass disappeared. This case provides valuable information for the potential future treatment of this disease.
Subject(s)
Janus Kinase 2 , Myelodysplastic Syndromes , Sarcoma, Myeloid , Humans , Janus Kinase 2/genetics , Sarcoma, Myeloid/pathology , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/drug therapy , Sarcoma, Myeloid/diagnosis , Myelodysplastic Syndromes/pathology , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/drug therapy , Myelodysplastic Syndromes/diagnosis , Male , Mutation , Middle Aged , Aged , Fibrosis , FemaleSubject(s)
Leukemia, Promyelocytic, Acute , Sarcoma, Myeloid , Humans , Leukemia, Promyelocytic, Acute/genetics , Leukemia, Promyelocytic, Acute/diagnosis , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/pathology , Sarcoma, Myeloid/diagnosis , Spinal Neoplasms/genetics , Spinal Neoplasms/diagnostic imaging , Spinal Neoplasms/complications , Male , Oncogene Proteins, Fusion/genetics , Female , Middle AgedABSTRACT
BACKGROUND: As a tumor mass, a myeloid sarcoma consists of myeloid blasts and presents at an anatomical site other than the bone marrow. In about one quarter of cases, myeloid sarcoma happens without an underlying acute myeloid leukemia or other myeloid neoplasm, and it may precede or coincide with AML or form acute blastic transformation of MDSs, MPNs, or MDS/MPNs. METHODS: Herein, we described a rare case of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), with WT1 mutation and high expression of TP53 after isolated myeloid sarcoma of lymph nodes showing a higher proportion of blasts, dysplasia of both megakaryocytes and granulocytes. CONCLUSIONS: The case highlights the importance of a bone marrow examination, including morphology, immunophenotyping, cytogenetic, and molecular examination in all cases to exclude the possibility of myeloid sarcoma, especially the morphological feature of bone marrow dysplasia in the early stage before AML.
Subject(s)
Leukemia, Myeloid, Acute , Mutation , Myelodysplastic Syndromes , Sarcoma, Myeloid , Humans , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , Leukemia, Myeloid, Acute/diagnosis , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/pathology , Myelodysplastic Syndromes/diagnosis , Tumor Suppressor Protein p53/genetics , WT1 Proteins/genetics , Male , Bone Marrow/pathology , Middle Aged , ImmunophenotypingABSTRACT
A 6-year-old male golden retriever presented with swelling of the left upper eyelid of 2 months duration, which did not improve following a course of antibiotics. Routine serum biochemistry, complete blood count and diagnostic imaging identified no clinically significant abnormalities. The mass was surgically excised, and histopathologic examination was performed. Eosinophilic granulocytic sarcoma (GS) was diagnosed based on the results of histopathology and immunohistochemistry. This is the first report of GS affecting the eyelid of a dog.
Subject(s)
Dog Diseases , Sarcoma, Myeloid , Animals , Dogs , Male , Dog Diseases/surgery , Dog Diseases/diagnosis , Dog Diseases/pathology , Sarcoma, Myeloid/veterinary , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Sarcoma, Myeloid/surgery , Eyelid Neoplasms/veterinary , Eyelid Neoplasms/surgery , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/pathologyABSTRACT
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.
Subject(s)
Anemia , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Neoplasms, Connective Tissue , Sarcoma, Myeloid , Stomach Neoplasms , Female , Humans , Aged , Sarcoma, Myeloid/pathology , Stomach Neoplasms/diagnosis , Stomach Neoplasms/complications , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/pathology , Myelodysplastic Syndromes/complications , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/pathology , Neoplasms, Connective Tissue/complications , Anemia/complicationsABSTRACT
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.
Subject(s)
Sarcoma, Myeloid , Humans , Sarcoma, Myeloid/pathology , Sarcoma, Myeloid/diagnosis , Sacrum/pathology , Male , Child , Leukemia, Promyelocytic, Acute/pathology , Leukemia, Promyelocytic, Acute/diagnosisABSTRACT
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.
Subject(s)
Brain , Extracellular Matrix , Sarcoma, Myeloid , Humans , Brain/pathology , Brain/metabolism , Cell Line, Tumor , Sarcoma, Myeloid/metabolism , Sarcoma, Myeloid/pathology , Extracellular Matrix/metabolism , Drug Resistance, Neoplasm , Cell Proliferation/drug effects , Brain Neoplasms/pathology , Brain Neoplasms/metabolism , Phenotype , Hydrogels/chemistry , Tissue Scaffolds/chemistry , Cell Differentiation/drug effects , Animals , Ferroptosis/drug effectsABSTRACT
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.
Subject(s)
Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Humans , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Leukemia, Myeloid, Acute/diagnosis , Diagnosis, Differential , Biopsy , ImmunophenotypingABSTRACT
ABSTRACT: Myeloid sarcoma is a neoplastic mass formed by the infiltration of primitive or immature myeloid cells into organs and tissues outside the bone marrow. It may occur before, at the same time, or manifest as the recurrence of acute myeloid leukemia, myelodysplastic syndromes, and chronic myeloproliferative syndromes. It may involve any organ or tissue, including skin, soft tissue, lymph nodes, and gastrointestinal tract and bone. Isolated humerus involvement is extremely rare. Herein, we present the FDG PET/CT findings of a rare case of isolate myeloid sarcoma in the right humerus, which showed only increased bone density with moderate FDG uptake.
Subject(s)
Sarcoma, Myeloid , Humans , Sarcoma, Myeloid/diagnostic imaging , Sarcoma, Myeloid/pathology , Fluorodeoxyglucose F18 , Positron Emission Tomography Computed Tomography , Positron-Emission Tomography , Humerus/diagnostic imaging , Humerus/pathologyABSTRACT
This case report describes the case of a man in his seventies presenting with a nasopharyngeal deposit of myeloid sarcoma associated with acute monomyelocytic leukaemia. He presented with right nasal obstruction associated with unilateral pulsatile tinnitus. CT and MRI scans of sinuses identified a moderately restricting mucosal swelling of the right torus tubarius, and a biopsy of the lesion diagnosed a nasal deposit of myeloid sarcoma.
Subject(s)
Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Tinnitus , Humans , Male , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/pathology , Nasopharynx/pathology , Nose/pathology , Sarcoma, Myeloid/pathology , Tinnitus/etiology , AgedABSTRACT
Myeloid sarcoma is a rare clinical entity that presents as an isolated proliferation of leukemic cells, concurrently with or at relapse of acute myeloid leukemia (AML), myelodysplastic syndromes/neoplasms (MDS), chronic myeloid leukemia (CML), and myeloproliferative neoplasm (MPN). Myeloid sarcoma disrupts the normal architecture of its surrounding tissues. When it forms in long bones, it can cause their pathological fracture. We recently experienced a rare case of MDS presenting with myeloid sarcoma in the femur that eventually resulted in its pathological fracture. Detailed chromosomal analysis of the bone marrow cells suggested emergence of myeloid sarcoma during the fast-paced progression of MDS just after acquiring trisomy 22. A comprehensive review of previous cases of myeloid sarcoma-associated pathological fracture indicated possible involvement of structural rearrangements of chromosomes 9 and 22. Management of myeloid sarcoma should continue to improve, and clinicians should note that myeloid sarcoma with specific chromosomal alterations needs extra medical attention to prevent pathological fracture.
Subject(s)
Fractures, Spontaneous , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Myeloproliferative Disorders , Sarcoma, Myeloid , Humans , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/pathology , Fractures, Spontaneous/etiology , Myeloproliferative Disorders/genetics , Myelodysplastic Syndromes/genetics , Leukemia, Myeloid, Acute/geneticsABSTRACT
Myeloid sarcoma (MS) is a condition characterized by a tumor mass of myeloid blasts in any site of the body other than the bone marrow, with or without acute myeloid leukemia. A 93-year-old man underwent laparoscopy-assisted distal gastrectomy with D1 lymphadenectomy for advanced gastric cancer. Other than metastatic foci of gastric cancer cells, some dissected lymph nodes showed destructive architecture with proliferation of small- to medium-sized atypical hematopoietic cells. Those cells were focally positive for naphthol AS-D chloroacetate esterase. Immunohistochemically, positive results were obtained for CD4, CD33, CD68 (KP1), Iba-1, lysozyme, myeloperoxidase, and PU.1, with focally positive results for CD13, CD14, CD68 (PGM1), CD163, and CD204, and negative results for AE1/AE3, CD1a, CD3, CD20, and S-100 protein. These results suggested MS with phenotypically myelomonocytic differentiation. We report a rare case of MS incidentally found in specimens resected for other purposes. Careful diagnosis and consideration of differential diagnoses including MS using an adequate panel of antibody markers for dissected lymph nodes is warranted.
Subject(s)
Adenocarcinoma , Lymph Nodes , Sarcoma, Myeloid , Stomach Neoplasms , Humans , Male , Aged, 80 and over , Stomach Neoplasms/complications , Stomach Neoplasms/pathology , Stomach Neoplasms/surgery , Sarcoma, Myeloid/complications , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Lymph Nodes/pathology , Lymph Nodes/surgery , Adenocarcinoma/complications , Adenocarcinoma/pathology , Adenocarcinoma/surgery , Biomarkers, Tumor/analysis , Treatment OutcomeABSTRACT
Cutaneous myeloid sarcoma is rarely present prior to the diagnosis of congenital acute myeloid leukemia (AML); the former is typically diagnosed with or after the leukemia. We report a 2-day-old male born with multiple cutaneous red to violaceous nodules. Histopathologic and immunohistochemistry findings from a skin nodule were suspicious for myeloid sarcoma. Bone marrow biopsy was initially negative for aberrant blasts; however, at age 4 months, AML with a KMT2A gene rearrangement was identified via bone marrow biopsy.
Subject(s)
Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Skin Neoplasms , Humans , Infant , Infant, Newborn , Male , Bone Marrow/pathology , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/pathology , Skin/pathology , Skin Neoplasms/pathologyABSTRACT
Myeloid sarcoma (MS) is currently considered equivalent to de novo acute myeloid leukemia (AML); however, the relationship between these entities is poorly understood. This retrospective multi-institutional cohort study compared 43 MS with NPM1 mutation to 106 AML with NPM1 mutation. Compared to AML, MS had more frequent cytogenetic abnormalities including complex karyotype (p = .009 and p = .007, respectively) and was enriched in mutations of genes involved in histone modification, including ASXL1 (p = .007 and p = .008, respectively). AML harbored a higher average number of gene mutations (p = .002) including more frequent PTPN11 mutations (p < .001) and mutations of DNA-methylating genes including DNMT3A and IDH1 (both p < .001). MS had significantly shorter overall survival (OS) than AML (median OS: 44.9 vs. 93.2 months, respectively, p = .037). MS with NPM1 mutation has a unique genetic landscape, and poorer OS, compared to AML with NPM1 mutation.
First study comparing genetic profiles of MS and AML with a common disease-defining lesion.NPM1Mut MS may be genetically distinct from NPM1Mut AML.NPM1Mut MS may have inferior overall survival compared to NPM1Mut AML.
Subject(s)
Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Humans , Bone Marrow/pathology , Nuclear Proteins/genetics , Nucleophosmin , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/pathology , Retrospective Studies , Cohort Studies , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Mutation , PrognosisABSTRACT
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.
Subject(s)
Genital Neoplasms, Female , Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Humans , Female , Young Adult , Adult , Middle Aged , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Retrospective Studies , Genital Neoplasms, Female/diagnosis , Leukemia, Myeloid, Acute/diagnosis , Survival Rate , PrognosisABSTRACT
Myeloid sarcoma is a rare condition consisting of extramedullary myeloid blasts found in association with acute myeloid leukemia or, in the absence of bone marrow involvement. We identified an infant with isolated myeloid sarcoma whose bone marrow was negative for involvement by flow cytometry. Sequencing revealed the fusion oncogene CIC-NUTM2A and identified the sarcoma to be clonally evolved from the bone marrow, which carried the fusion despite the absence of pathology. Murine modeling confirmed the ability of the fusion to transform hematopoietic cells and identified receptor tyrosine kinase (RTK) signaling activation consistent with disruption of the CIC transcriptional repressor. These findings extend the definition of CIC-rearranged malignancies to include hematologic disease, provide insight into the mechanism of oncogenesis, and demonstrate the importance of molecular analysis and tracking of bone marrow involvement over the course of treatment in myeloid sarcoma, including patients that lack flow cytometric evidence of leukemia at diagnosis. IMPLICATIONS: This study illustrates molecular involvement of phenotypically normal bone marrow in myeloid sarcoma, which has significant implications in clinical care. Further, it extends the definition of CIC-rearrangements to include hematologic malignancies and shows evidence of RTK activation that may be exploited therapeutically in cancer(s) driven by these fusions.
Subject(s)
Leukemia, Myeloid, Acute , Sarcoma, Myeloid , Humans , Animals , Mice , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/pathology , Bone Marrow/pathology , Transcription Factors , Leukemia, Myeloid, Acute/pathology , Clone Cells/pathologyABSTRACT
INTRODUCTION: Myeloid sarcoma (MS) is a mass-forming proliferation of myeloid blasts. Frequently, it arises as blast phase of pre-existing myeloproliferative, myelodysplastic disorders or consequent to bone marrow transplant. Its molecular characterization has become an increasingly important requirement for the diagnostic definition of this solid leukemia. CASE PRESENTATION: Our case report concerns an MS arising in the breast of a woman with a previous diagnosis of JAK2-mutated essential thrombocythemia (Val617Phe exon 14p) mimicking, on histology, a lobular carcinoma of the breast. The immunohistochemical study of the neoplasm provided the key that solved the diagnostic doubt and the immunohistochemical evaluation of NPM protein expression, which turn out to be negative, provided a clear indication on the molecular status and prognosis of the disease. A year later, the neoplasm relapsed in the pelvic area. DISCUSSION: This diagnostic challenge led us to review the literature of the past 10 years concerning MS of the breast. To the best of our knowledge, this was the first case of MS of the breast occurring in a patient with a history of essential thrombocythemia and recurred in the pelvic region.
Subject(s)
Leukemia , Sarcoma, Myeloid , Thrombocythemia, Essential , Female , Humans , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/genetics , Sarcoma, Myeloid/pathology , Blast Crisis , Exons , Janus Kinase 2/genetics , Janus Kinase 2/metabolismABSTRACT
ABSTRACT: A 1-year-old girl presented with vomiting for 1 week. Abdominal ultrasound revealed a mass with increased blood flow in the left lower abdomen. A malignancy was suspected. 18 F-FDG PET/CT showed multiple lesions in the left ventricular wall, the kidney, and the left lower abdomen. Biopsy of the left abdominal mass confirmed the diagnosis of myeloid sarcoma associated with acute myeloid leukemia. After 4 cycles of chemotherapy, follow-up PET/CT was performed for evaluating the therapy response, which showed complete resolution.