NPM1 and FLT3-TKD mutations are enriched in patients with leukemia cutis

Karagounis, Theodora K; Rotemberg, Veronica; Geskin, Larisa J.; Jurcic, Joseph G.; MDAuthors, George Niedt

doi:10.5070/d3267049552

Cited by 4 publications

(7 citation statements)

References 30 publications

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“…Also, LC cases have been associated with normal karyotypes, as well as myelomonocytic and monocytic differentiation. 11,16 Notably, one report highlights the presence of large, folded nuclei in LC cases with NPM1-FLT3 mutations. 16 It is worth mentioning that the folded or indented nuclei observed in cutaneous tissue sections of leukemia cutis may represent the equivalent "cup-like" structures previously described in bone marrow specimens.…”

Section: Discussionmentioning

confidence: 99%

“…In hematologic malignancies, identifying genetic abnormalities holds significance as it aids in the classification, prognostic evaluation, and monitoring of various types of lymphomas and leukemias. As the field progresses, there is a growing tendency to classify tumors based on genetic attributes rather than morphological alterations 11 …”

Section: Discussionmentioning

confidence: 99%

“…However, several studies have noted a predominant distribution of NPM1 and FLT3 mutations among LC patients, which generally aligns with the mutational profile observed in patients with AML. Also, LC cases have been associated with normal karyotypes, as well as myelomonocytic and monocytic differentiation 11,16 . Notably, one report highlights the presence of large, folded nuclei in LC cases with NPM1‐FLT3 mutations 16 .…”

Section: Discussionmentioning

confidence: 99%

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Blasts with folded nuclei: A histopathologic finding in myeloid leukemia cutis with NPM1 and FLT3 mutations

Han,

Patel,

Garcia

et al. 2023

J Cutan Pathol

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Leukemia cutis is a term used to describe cutaneous manifestations of leukemic infiltration of the skin and portends a poor prognosis. Cutaneous involvement by hematopoietic/lymphoid tumors can occur before, concurrently, or after the initial diagnosis. Early involvement of dermatologists and timely biopsies play a crucial role in achieving a prompt diagnosis. Prior reports of acute myeloid leukemia have revealed a strong association between the cup‐like nuclear morphology observed in bone marrow specimens and concurrent mutations of NPM1 and FLT3‐ITD. In cutaneous tissue sections of leukemia cutis, folded or indented nuclei may represent the “cup‐like” counterpart previously described in bone marrow specimens. Recognizing this morphological feature could aid in identifying this molecular subtype of leukemia cutis. In this study, we present a case of leukemia cutis in a 63‐year‐old female with AML and NPM1 and FLT3‐ITD mutations, demonstrating scattered indented/folded nuclei.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Blasts with folded nuclei: A histopathologic finding in myeloid leukemia cutis with NPM1 and FLT3 mutations

Han,

Patel,

Garcia

et al. 2023

J Cutan Pathol

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“…Flowchart depicting the literature review and article selection process. (39), orbit (36), kidney (42), tonsil (16), Salivary gland (6), testis (7) (14),lymph node (10), GItract (6),eye/orbita(3), breast(4),mediastinum(4), retroperitoneum(1),ovary(2),lung(1),cervix/ uterus(1), spinal cord(1),urinary tract(1),pericard(1), brain(2), thyroid(1),liver(1),bone(2) IC (10), IC then allo SCT (10), other regimen (20) AlloSCT (10) 1983 (30), soft tissues (16),spinal canal (14),digestive tract(9), genitalsystem (8), pleura (7),skin(2),nasopharynx (7),lung(5), bone…”

Section: Search Resultsmentioning

confidence: 99%

“…Similarly, the MLL and NPM1 mutations stood out with a prevalence of 17.30% (95% CI -7.40% to 42.0%; I² 98.06%; Figure 2C) (9,22,46) and 17.10% (95% CI 11.60% to 22.60%; I² 93.64%; Figure 2B) (9, 12, 15, 16, 23, 24, 26, 27, 29, 31-37, 39-42, 46), respectively. Additionally, the DNMT3A mutation was observed at a prevalence of 16.10% (95% CI 7.80% to 24.30%; I² 80.7%; Figure 2D) (12,27,28,32,36,40,42,50), while the TET2 mutation had a prevalence of 15.40% (95% CI 12.30% to 18.50%; I² 0%; Figure 2E) (12,15,27,36,40,43,47,49,50). Furthermore, the STAG2 and NRAS mutations exhibited a prevalence of 12.80% (95% CI 0.70% to 24.80%; I² 0%; Figure 2F) (11,15,36) and 11.9% (95% CI 8.10% to 15.70%; I² 39.18%), respectively.…”

Section: Pool Prevalence Of Dna Mutations In Aml Patients With Msmentioning

confidence: 99%

Genetic alterations in myeloid sarcoma among acute myeloid leukemia patients: insights from 37 cohort studies and a meta-analysis

Untaaveesup,

Trithiphen,

Kulchutisin

et al. 2024

Front. Oncol.

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IntroductionVariations 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 methodsThis 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.ResultsThe 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 FLT3-ITD, with a pooled prevalence of 17.50% (95% CI 12.60% to 22.50%; I2 82.48%). The dominant fusion gene was RUNX1::RUNX1T1, displaying a pooled prevalence of 28.10% (95% CI 15.10% to 41.20%; I2 96.39%). In comparison, no significant intergroup differences were observed for NPM1, FLT3-ITD, KIT, and IDH2 mutations. Interestingly, the CEBPA mutation exhibited protective effects for MS patients, with an odds ratio of 0.51 (95% CI 0.32 to 0.81; I2 0%). Conversely, the NRAS mutation was associated with an increased risk of MS development, with an odds ratio of 5.07 (95% CI 1.87 to 13.73; I2 0%).ConclusionThis 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.

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Regression of leukemia cutis with gilteritinib in a case of FLT3-positive acute myeloid leukemia

Duminuco¹,

Raimondo²,

Mauro³

et al. 2022

Current Problems in Cancer: Case Reports

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NPM1 and FLT3-TKD mutations are enriched in patients with leukemia cutis

Cited by 4 publications

References 30 publications

Blasts with folded nuclei: A histopathologic finding in myeloid leukemia cutis with NPM1 and FLT3 mutations

Blasts with folded nuclei: A histopathologic finding in myeloid leukemia cutis with NPM1 and FLT3 mutations

Genetic alterations in myeloid sarcoma among acute myeloid leukemia patients: insights from 37 cohort studies and a meta-analysis

Regression of leukemia cutis with gilteritinib in a case of FLT3-positive acute myeloid leukemia

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