Details of Disease

General Information of Disease (ID: DIS2PNPP)

• Disease Name: T lymphoblastic leukaemia
• Disease Class: 2B33: Malignant haematopoietic neoplasm
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DIS2PNPP: T lymphoblastic leukaemia
• ICD Code:
  ICD-11: ICD-11: 2B33.4
  ICD-10: ICD-10: C91-C95
  Expand ICD-11: 'XH50W7
• Disease Identifiers:
  MONDO ID: MONDO_0019468
  MESH ID: D015461
  UMLS CUI: C2363142
  MedGen ID: 391707
  Orphanet ID: 86871
  SNOMED CT ID: 128821006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
SNDX-5613	DMCGX9Y	Phase 1/2	Small molecular drug	[1]
PR-924	DMEBZ0Y	Phase 1	NA	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD52	TTQT5S9	moderate	Biomarker	[3]
JAK3	TTT7PJU	moderate	Biomarker	[4]
ATM	TTKBM7V	Strong	Altered Expression	[5]
SULF2	TTLQTHB	Definitive	Altered Expression	[6]
TRB	TT84HCW	Definitive	Altered Expression	[7]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTCP1	OT4O23TK	Strong	Genetic Variation	[8]
STAT5B	OTZVPEBT	Strong	Altered Expression	[9]
DNTT	OTFSEF12	Definitive	Altered Expression	[8]
HERC1	OT73FVYZ	Definitive	Genetic Variation	[10]
HERC2	OTNQYKOB	Definitive	Genetic Variation	[10]
IL2RG	OTRZ3OMY	Definitive	Altered Expression	[11]
KLRB1	OTQ2959Y	Definitive	Altered Expression	[12]
SAMHD1	OTBCIBC7	Definitive	Biomarker	[10]
SULF1	OTJCNCO0	Definitive	Altered Expression	[6]

References

• [1] ClinicalTrials.gov (NCT04065399) A Study of SNDX-5613 in R/R Leukemias Including Those With an MLLr/KMT2A Gene Rearrangement or NPM1 Mutation (AUGMENT-101). U.S. National Institutes of Health.
• [2] PR-924, a selective inhibitor of the immunoproteasome subunit LMP-7, blocks multiple myeloma cell growth both in vitro and in vivo. Br J Haematol. 2011 Jan;152(2):155-63.
• [3] T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome.Ann Hematol. 2003 Aug;82(8):515-517. doi: 10.1007/s00277-003-0697-y. Epub 2003 Jul 3.
• [4] T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib).Blood Adv. 2017 Dec 18;1(27):2724-2728. doi: 10.1182/bloodadvances.2017010470. eCollection 2017 Dec 26.
• [5] Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.Nat Commun. 2018 Feb 15;9(1):697. doi: 10.1038/s41467-017-02688-6.
• [6] SULFs in human neoplasia: implication as progression and prognosis factors.J Transl Med. 2011 May 21;9:72. doi: 10.1186/1479-5876-9-72.
• [7] Next-generation amplicon TRB locus sequencing can overcome limitations of flow-cytometric V expression analysis and confirms clonality in all T-cell prolymphocytic leukemia cases.Cytometry A. 2018 Nov;93(11):1118-1124. doi: 10.1002/cyto.a.23604. Epub 2018 Nov 10.
• [8] Reconstruction of rearranged T-cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T-cell prolymphocytic leukemia.Genes Chromosomes Cancer. 2020 Apr;59(4):261-267. doi: 10.1002/gcc.22821. Epub 2019 Nov 29.
• [9] JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.Cancers (Basel). 2019 Nov 21;11(12):1833. doi: 10.3390/cancers11121833.
• [10] SAMHD1 is recurrently mutated in T-cell prolymphocytic leukemia.Blood Cancer J. 2018 Jan 19;8(1):11. doi: 10.1038/s41408-017-0036-5.
• [11] Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.Blood. 2014 Aug 28;124(9):1460-72. doi: 10.1182/blood-2014-03-559542. Epub 2014 May 13.
• [12] CD161 Is Expressed in a Subset of T-Cell Prolymphocytic Leukemia Cases and Is Useful for Disease Follow-up.Am J Clin Pathol. 2019 Sep 9;152(4):471-478. doi: 10.1093/ajcp/aqz060.