HAEM5:Early T-precursor lymphoblastic leukaemia / lymphoma: Difference between revisions

{{DISPLAYTITLE:Early T-precursor lymphoblastic leukaemia / lymphoma}}

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==Primary Author(s)*==

==Clinical Features==

{| class="wikitable"

|'''Signs and Symptoms'''

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|'''Laboratory Findings'''

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The clinical features of ETP-ALL are similar to that of other subtypes of T-ALL, including a high leukocyte count, anterior mediastinal mass or other tissue mass, lymphadenopathy, hepatosplenomegaly<ref name=":3">{{Cite journal|last=Inukai|first=Takeshi|last2=Kiyokawa|first2=Nobutaka|last3=Campana|first3=Dario|last4=Coustan-Smith|first4=Elaine|last5=Kikuchi|first5=Akira|last6=Kobayashi|first6=Miyuki|last7=Takahashi|first7=Hiroyuki|last8=Koh|first8=Katsuyoshi|last9=Manabe|first9=Atsushi|date=2012-02|title=Clinical significance of early T-cell precursor acute lymphoblastic leukaemia: results of the Tokyo Children's Cancer Study Group Study L99-15|url=https://pubmed.ncbi.nlm.nih.gov/22128890|journal=British Journal of Haematology|volume=156|issue=3|pages=358–365|doi=10.1111/j.1365-2141.2011.08955.x|issn=1365-2141|pmid=22128890}}</ref><ref name=":4">Borowitz MJ, et al., (2016).T-lymphoblastic leukemia/lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p176-178.</ref>. Some patients who develop an anterior mediastinal mass can lead to superior vena cava syndrome.

!Notes

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|Yes

|No

|Yes

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).

''MEF2C'' (5q14) rearrangement or rearrangement involving ''MEF2C''-related cofactors have been reported in about 50% of ETP-ALL cases<ref>Homminga I, Pieters R, Langerak A, de Rooi J, Stubbs A, Verstegen M, et al. MEF2C as Novel Oncogene for Early T-Cell Precursor (ETP) Leukemia. ''Blood'' (2010) 116:9–9. doi: 10.1182/blood.V116.21.9.9</ref>, which have been validated in an independent ETP-ALL patient cohort<ref>Meijer M, Cordo V, Hagelaar R, Smits W, Meijerink J. Manipulating MEF2C: Discovering Novel Drugs to Target ETP-ALL. ''Blood'' (2021) 138 (Supplement 1): 3325. doi.org/10.1182/blood-2021-150176.</ref>. Ectopic MEF2C expression due to rearrangement has been demonstrated as an oncogenic driver of ETP-ALL by upregulating ''LMO2'' and ''LYL1,'' which lead to differentiation block of early thymocytes.  

==Individual Region Genomic Gain / Loss / LOH==

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!Notes

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7

chr7:1- 159,335,973 [hg38]

chr7

|Yes

|No

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

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8

chr8:1-145,138,636 [hg38]

chr8

|No

|No

Common recurrent secondary finding for t(8;21) (add reference).

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Currently there is no specific copy number alterations/LOH that is associated with ETP-ALL.

==Characteristic Chromosomal Patterns==

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!Notes

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Co-deletion of 1p and 18q

|No

|No

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

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Currently there is no specific chromosomal alteration that is characteristic for ETP-ALL.