Here I present: “Myeloproliferative / Lymphoproliferative Neoplasms”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 骨髓惡性腫瘤。icd10=C92.90 (MPLPF).
INTRODUCTION.
Myeloproliferative / Lymphoproliferative Neoplasms (MPLPF) are an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome and/or acute myeloid leukemia. Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis.
There is evidence that susceptibility to myeloproliferative / lymphoproliferative neoplasms (MPLPF) can be conferred by heterozygous mutation in the dead-box helicase (DDX41) gene on cytogenetic location 5q35.3 and genomic coordinates 5:177,511,577-177,516,961. The screenshot of the DDX41 gene 5,385 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DDX41 in the 5q35.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:177,445,995 | PRR7 | Proline-rich protein 7 |
| 5:177,456,610 | DBN1 | Drebrin-1 |
| 5:177,483,394 | PDLIM7 | PDZ and LIM domain 7 (enigma) |
| 5:177,501,904 | DOK3 | Docking protein 3 |
| 5:177,511,577 | DDX41 | DEAD-box helicase 41 |
| 5:177,519,788 | FAM193B | Family with sequence 193, member B |
| 5:177,592,203 | TMED9 | Transmembrane p24 trafficking protein 9 |
| 5:177,600,132 | B4GALT7 | Beta-1,4-galactosyltransferase 7 |
| 5:177,992,235 | PROP1 | Prophet of Pit1 transcription factor |
| 5:178,113,532 | N4BP3 | NEDD4-binding protein 3 |
