Table 1

Clinical and cytogenetic findings and gene rearrangements/mutations in nine cases of acute leukaemia with ophthalmic manifestations

Case	Age (years)/sex	Diagnosis	Location	Karyotype/chromosome translocation	Gene rearrangement/mutation	MYB expression	Clinical follow-up
1	5/M	BCP-ALL	Superior orbital region (left)*	46, XY, t(2;3)(p11;q29)[11]/46 XY [16]	No ETV6 rearrangement†	+	NED after 13 years
2	9/F	BCP-ALL	Superior orbital region (left)*	47, XX, t(12;21)(p13;q22),+21	ETV6 rearrangement†	+	NED after 5 years
3	17/M	BCP-ALL	Bilateral uveal and retinal leukaemic infiltrates, optic nerve invasion (left)	NDA	ETV6 rearrangement†	–	Orbital lesion after 1 year, DOD after 1.3 years
4	32/M	BCP-ALL	Leukaemic infiltrate of the iris (right)	46, XY [25]	NDA	NDA	Relapses after 6 and 27 years, ocular lesion after 28 years, DOD after 29 years
5	1/M	AML FAB M5	Inferior orbital region (left)*	46, XY, t(9;11)(p22;q23) [7]	KMT2A rearrangement†	+	NED after 18 years
6	40/F	AML FAB M4	Orbital region (left)	46XX, −7, +11, inv(16)(p13q22)	No KMT2A rearrangement†	+	Orbital lesion after 2 years, DOD after 5 years
7	68/M	AML FAB M1	Inferior orbital region (left)	46, XY [25]	No KMT2A rearrangement†	+	Relapse after 2 years, orbital lesion after 3 years, DOC after 3.5 years
8	70/F	AML FAB M2	Retinal and subretinal infiltrate (left)	NDA	FLT3 ITD mutation NPM1 mutation	NDA	Ocular lesion after 9 months, relapse 1.5 years, DOD after 2 years
9	68/F	CLL, high-grade transformation to AML FAB M2	Choroid, conjunctiva, and anterior orbital region (right)	t(8;21)(q22;q22)	RUNX1–RUNX1T1 gene fusion	−	DOD

*Primary ophthalmic lesion.
†FISH analysis.
AML, acute myeloid leukaemia; BCP-ALL, B-cell precursor acute lymphoblastic leukaemia; CLL, chronic lymphocytic leukaemia; DOC, dead of other causes; DOD, dead of disease; F, female; ITD, internal tandem duplication in juxtamembrane domain; M, male; NDA, no data available; NED, no evidence of disease.