Overview

Variant Type
Fusion
Genes
MLF1 and NPM1

NPM1-MLF1 Fusion is present in 0.02% of AACR GENIE cases, with gastric adenocarcinoma and undifferentiated pleomorphic sarcoma having the greatest prevalence [4].

Top Disease Cases with NPM1-MLF1 Fusion

Significance of NPM1-MLF1 Fusion in Diseases

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Malignant Solid Tumor +

Chronic Myeloid Leukemia +

Prostate Adenocarcinoma +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Prostate Carcinoma +

Acute Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Large Cell Lymphoma +

Burkitt Lymphoma +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Myelofibrosis +

Refractory Anemia With Excess Blasts +

Acute Biphenotypic Leukemia +

Breast Carcinoma +

Chronic Lymphocytic Leukemia +

Mixed Phenotype Acute Leukemia +

Myeloproliferative Neoplasm +

Ovarian Carcinoma +

Secondary Myelodysplastic Syndrome +

B-Cell Non-Hodgkin Lymphoma +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Cervical Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Colorectal Carcinoma +

Lymphoplasmacytic Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Primary Peritoneal Carcinoma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Acute Lymphoblastic Leukemia +

Cholangiocarcinoma +

Chronic Myelomonocytic Leukemia-1 +

Diffuse Large B-Cell Lymphoma +

Endometrial Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Lymphoblastic Lymphoma +

Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-1 +

Non-Small Cell Lung Carcinoma +

Plasma Cell Leukemia +

Prolymphocytic Leukemia +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Esophagogastric Neoplasm +

Soft Tissue Sarcoma +

Acute Bilineal Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Aggressive Non-Hodgkin Lymphoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Prolymphocytic Leukemia +

Bladder Urothelial Carcinoma +

Chronic Myelomonocytic Leukemia-0 +

Chronic Myelomonocytic Leukemia-2 +

Clear Cell Renal Cell Carcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Hematopoietic And Lymphoid Malignancy +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Mesothelioma +

NK-Cell Lymphoma, Unclassifiable +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Primary Myelofibrosis +

Refractory Anemia +

Refractory Anemia With Ring Sideroblasts +

Richter Syndrome +

Small Cell Lung Carcinoma +

Small Lymphocytic Leukemia +

Systemic Mastocytosis +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Myeloid Neoplasm +

Urothelial Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.