Details of Disease

General Information of Disease (ID: DIS72GCL)

• Disease Name: Extranodal NK/T-cell Lymphoma
• Synonyms: lethal midline granuloma; Extranodal NK/T-cell lymphoma, nasal type; nasal T/natural killer-cell lymphoma; nasal type Extranodal NK/T-cell lymphoma; Extranodal NK/T lymphoma-nasal; NK/T-cell lymphoma; reticulosis, malignant; NKTCL; angiocentric T-cell lymphoma
• Disease Class: 2A90: Mature T-cell lymphoma
• Definition: Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.
• Disease Hierarchy:
  DISN6V4S: Lymphoma
  DISUUNPX: Epstein-Barr virus-associated malignant lymphoproliferative disorder
  DIS72GCL: Extranodal NK/T-cell Lymphoma
• ICD Code: ICD-11: ICD-11: 2A90.6
• Disease Identifiers:
  MONDO ID: MONDO_0019472
  MESH ID: D054391
  UMLS CUI: C0392788
  MedGen ID: 140278
  Orphanet ID: 86879
  SNOMED CT ID: 414166008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sugemalimab	DMH5YQ3	Approved in China	Monoclonal antibody	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFLAR	TTJZQYH	Strong	Biomarker	[2]
JAK3	TTT7PJU	Strong	Altered Expression	[3]
TNFRSF8	TT2GM5R	Strong	Altered Expression	[4]
NCAM1	TTVXPHT	Definitive	Biomarker	[5]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNLY	OTZJKA8C	Limited	Biomarker	[6]
ELF4	OT167PR5	Disputed	Genetic Variation	[7]
EOMES	OTB9VQFA	Disputed	Altered Expression	[7]
GZMH	OTG3259L	Disputed	Biomarker	[8]
KLRD1	OTMYLOV4	Disputed	Biomarker	[9]
POU2F2	OTPV0J0C	Disputed	Biomarker	[10]
TIA1	OTGPN3P8	Disputed	Biomarker	[10]
ASPG	OT5E2EKR	Strong	Genetic Variation	[11]
CREBZF	OTO3TOEU	Strong	Genetic Variation	[12]
PRDM1	OTQLSVBS	Strong	Altered Expression	[3]
STAT5B	OTZVPEBT	Strong	Biomarker	[13]
TMTC3	OTMTTDYG	Strong	Genetic Variation	[12]
PDLIM7	OTAZVODU	Definitive	Altered Expression	[14]

References

• [1] ClinicalTrials.gov (NCT05700448) A Phase III, Randomized, Double-Blind, Multicenter Study of Sugemalimab (CS1001) Plus PGemOx Regimen Versus Placebo Plus PGemOx for Subjects With Relapsed or Refractory Extranodal NK/T-Cell Lymphoma (R/R ENKTL). U.S.National Institutes of Health.
• [2] Resistance to Fas-mediated apoptosis is restored by cycloheximide through the downregulation of cellular FLIPL in NK/T-cell lymphoma. Lab Invest. 2005 Jul;85(7):874-84. doi: 10.1038/labinvest.3700291.
• [3] JAK3/STAT3 oncogenic pathway and PRDM1 expression stratify clinicopathologic features of extranodal NK/Tcell lymphoma, nasal type.Oncol Rep. 2019 Jun;41(6):3219-3232. doi: 10.3892/or.2019.7112. Epub 2019 Apr 12.
• [4] Frequent expression of CD30 in extranodal NK/T-cell lymphoma: Potential therapeutic target for anti-CD30 antibody-based therapy.Hematol Oncol. 2018 Feb;36(1):166-173. doi: 10.1002/hon.2482. Epub 2017 Oct 20.
• [5] Identification of T-cell receptor expression in EBV-positive neoplastic cells in extranodal NK/T-cell lymphoma, nasal-type, and comparison with T-cell receptor gene rearrangement by BIOMED-2 assay.Hum Pathol. 2018 Mar;73:51-58. doi: 10.1016/j.humpath.2017.12.006. Epub 2017 Dec 16.
• [6] Granulysin, a novel marker for extranodal NK/T cell lymphoma, nasal type.Virchows Arch. 2018 Dec;473(6):749-757. doi: 10.1007/s00428-018-2434-x. Epub 2018 Aug 27.
• [7] Transcription factors engaged in development of NK cells are commonly expressed in nasal NK/T-cell lymphomas.Hum Pathol. 2011 Sep;42(9):1319-28. doi: 10.1016/j.humpath.2009.11.022. Epub 2011 Feb 16.
• [8] Molecular underpinning of extranodal NK/T-cell lymphoma.Best Pract Res Clin Haematol. 2013 Mar;26(1):57-74. doi: 10.1016/j.beha.2013.04.006. Epub 2013 May 23.
• [9] CD94 transcripts imply a better prognosis in nasal-type extranodal NK/T-cell lymphoma.Blood. 2003 Oct 1;102(7):2623-31. doi: 10.1182/blood-2003-01-0295. Epub 2003 Jun 19.
• [10] Aberrant antigenic expression in extranodal NK/T-cell lymphoma: a multi-parameter study from Thailand.Diagn Pathol. 2011 Aug 25;6:79. doi: 10.1186/1746-1596-6-79.
• [11] Circulating Low Absolute CD4+ T Cell Counts May Predict Poor Prognosis in Extranodal NK/T-Cell Lymphoma Patients Treating with Pegaspargase-Based Chemotherapy.Cancer Res Treat. 2019 Jan;51(1):368-377. doi: 10.4143/crt.2018.010. Epub 2018 May 14.
• [12] Defining the toxicity of current regimens for extranodal NK/T cell lymphoma: a systematic review and metaproportion.Expert Rev Anticancer Ther. 2019 Jan;19(1):93-104. doi: 10.1080/14737140.2019.1549992. Epub 2018 Nov 23.
• [13] STAT5BN642H is a driver mutation for T cell neoplasia. J Clin Invest. 2018 Jan 2;128(1):387-401. doi: 10.1172/JCI94509. Epub 2017 Dec 4.
• [14] Specific Soft-Tissue Invasion and LMP1 Expression Are Potential Indicators of Extranodal NK/T Cell Lymphoma, Nasal Type.Med Sci Monit. 2018 Oct 25;24:7603-7613. doi: 10.12659/MSM.909152.