Chronic myelomonocytic leukemia associated with myeloid sarcomas and NPM1 mutation: a case report and literature review

Matanes, Faris; Abdelazeem, Basel; Shah, Gaurav; Reddy, V.; Saad, Ayman; Papadantonakis, Nikolaos

doi:10.1177/2040620719854596

Cited by 6 publications

(4 citation statements)

References 40 publications

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“…Intracranial myeloid sarcomas are rare and account for about 3% of all extramedullary sarcomas. Myeloid sarcoma can be caused by AML, 3 chronic myeloid leukemia (CML), 4,5 chronic myelomonocytic leukemia (CMML), 6 and primary myelofibrosis (PMF). [7][8][9] It has been reported that intracranial myeloid sarcoma may originate from the superficial arachnoid vein wall and extend into the cerebrospinal fluid.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Urgent Chemotherapy Successfully Rescues a Near Death Patient of Acute Intracranial Hypertension Caused by Intracranial Myeloid Sarcoma

Zhou

Zhang

Feng

et al. 2020

OTT

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Intracranial myeloid sarcoma is a very rare disease with poor prognosis. We report a case of a 28-year-old male patient who was admitted with intense headache, vision disturbance and severe vomiting in June 2017. He had a history of neurosurgical tumor resection operation in April 2017, and the pathological diagnosis was intracranial myeloid sarcoma. Bone marrow aspirate and biopsy had been conducted in May 2017, which demonstrated 5.5% blasts expressing CD13, CD33, CD34, CD117 and MPO, and the cytogenetic analysis demonstrated t(8;21)(q22;q22), and molecular studies showed a positive RUNX1-RUNX1T1 rearrangement. The diagnosis of acute myeloid leukemia (AML) with t (8; 21) (q22; q22)/RUNX1-RUNX1T1 was made, however, the patient refused to receive any systemic chemotherapy. Emergency cranial CT demonstrated a circular hyperdense mass (54mm×37mm), which was surrounded by hypodense peritumoral edema in the left cerebellar hemisphere, and the density of the lesions was uniform and the margin was clear. Idarubicin (12mg/m 2 •d×3 days) combined with high-dose cytarabine (2g/m 2 q12h×3 days) was initiated for emergency chemotherapy. All of the above symptoms disappeared at the end of chemotherapy. On the first day after chemotherapy, the cranial CT indicated that the cranial lesion was markedly reduced (20mm×15mm), and on the sixth day after chemotherapy, the lesion was completely disappeared. Currently, there are no clear guidelines for the treatment of intracranial myeloid sarcoma, and our treatment approaches could provide a reference for this disease with such emergency situation.

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Section: Discussion and Literature Reviewmentioning

confidence: 99%

Urgent Chemotherapy Successfully Rescues a Near Death Patient of Acute Intracranial Hypertension Caused by Intracranial Myeloid Sarcoma

Zhou

Zhang

Feng

et al. 2020

OTT

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“…127 Recently, an unusual case of CMML harboring an NPM1 mutation associated with extensive myeloid sarcomas was reported. 128 The patient had rapid resolution of lymphadenopathy, and attained remission after being administered idarubicin and cytarabine induction chemotherapy, in addition to a matched unrelated donor allogeneic bone marrow transplant. This study highlights that the NPM1 chemosensitivity noted in AML might be applicable to other hematological conditions.…”

Section: Other Therapeutic Strategies Associated With Npm1 Mutation Imentioning

confidence: 97%

Nucleophosmin1 (NPM1) abnormality in hematologic malignancies, and therapeutic targeting of mutant NPM1 in acute myeloid leukemia

Chen

2020

Therapeutic Advances in Hematology

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Nucleophosmin ( NPM1) is an abundant nucleolar protein that is implicated in a variety of biological processes and in the pathogenesis of several human malignancies. For hematologic malignancies, approximately one-third of anaplastic large-cell non-Hodgkin’s lymphomas were found to express a fusion between NPM1 and the catalytic domain of anaplastic lymphoma receptor tyrosine kinase. About 50–60% of acute myeloid leukemia patients with normal karyotype carry NPM1 mutations, which are characterized by cytoplasmic dislocation of the NPM1 protein. Nevertheless, NPM1 is overexpressed in various hematologic and solid tumor malignancies. NPM1 overexpression is considered a prognostic marker of recurrence and progression of cancer. Thus, NPM1 abnormalities play a critical role in several types of hematologic malignancies. This has led to intense interest in the development of an NPM1 targeting strategy for cancer therapy. The aim of this review is to summarize present knowledge on NPM1 origin, pathogenesis, and therapeutic interventions in hematologic malignancies.

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“…In contrast, the 2022 WHO classifies these cases as AML with mutated NPM1 [2]. The management of these CMML cases is challenging, due to the low number of cases there is with a lack of large series [5,9,44,45,48]. Earlier studies suggested a higher probability of AML transformation and poorer overall survival when patients were treated with CMML protocols [47].…”

Section: Npm1 Mutation In Cmmlmentioning

confidence: 99%

“…Nowadays, there is no agreement in the literature on whether non-acute NPM1mutated MNs (NPM1mut-MNs) such as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with NPM1mut should be diagnosed and treated as AML. Recent studies show an aggressive clinical evolution of most cases of non-acute NPM1mut-MNs and suggest managing them with intensive AML-type therapeutic protocols whenever possible, including targeted therapy and stem cell transplant [5][6][7][8][9][10][11][12][13][14]. Nevertheless, there are still scarce non-acute NPM1mut-MN patients showing prolonged survival under non-intensive management [15].…”

Section: Introductionmentioning

confidence: 99%

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

Castaño-Díez,

Guijarro,

López-Guerra

et al. 2024

Cancers

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Non-acute myeloid neoplasms (MNs) with NPM1 mutations (NPM1mut-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 NPM1mut-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. NPM1 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 NPM1 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 NPM1 mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.

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Chronic myelomonocytic leukemia associated with myeloid sarcomas and NPM1 mutation: a case report and literature review

Cited by 6 publications

References 40 publications

<p>Urgent Chemotherapy Successfully Rescues a Near Death Patient of Acute Intracranial Hypertension Caused by Intracranial Myeloid Sarcoma</p>

<p>Urgent Chemotherapy Successfully Rescues a Near Death Patient of Acute Intracranial Hypertension Caused by Intracranial Myeloid Sarcoma</p>

Nucleophosmin1 (NPM1) abnormality in hematologic malignancies, and therapeutic targeting of mutant NPM1 in acute myeloid leukemia

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

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