Table 3. HCT for other hematopoietic... | American Society of Hematology

Table 3.

HCT for other hematopoietic malignancy predisposition syndromes

Disease and reference	No. pts, median age	Disease phase	Prep regimen	Donor type stem cell source	GVHD	TRM	OS	Follow-up	Comments
CAMT⁴⁶	63 pts	NR	MAC 82%	MRD or MUD > 80%	A-GVHD: II-IV 13%.	13% at 3 y	5-y OS: 76%	1,7 y (0.1-14)	No difference in OS according to donor or stem cell source
CAMT⁴⁶	7 y (0.5-17)	NR	MAC 82%	BM (n = 31); PB (n = 21); UCB (n = 11)	Extensive C-GVHD: 6.3%	13% at 3 y	5-y OS: 76%	1,7 y (0.1-14)	No difference in OS according to donor or stem cell source
GATA2⁴⁷	15 pts	MDS (n = 12)	73% CY + TBI	MRD or MUD 53%	A-GVHD: II- IV: 33%	20% at 1 y	5-y OS: 65% 5-y DFs:51	5,0 y (1-8.5)	Neurological toxicities and thrombotic events more frequent after GATA2 transplants
GATA2⁴⁷	15 y (5-20)	AL (n = 3)	73% CY + TBI	BM (n = 11) and UCB (n = 4)	Extensive C-GVHD 26%	20% at 1 y	5-y OS: 65% 5-y DFs:51	5,0 y (1-8.5)
MECOM⁴⁹	10 pts	Progressive BMF	NR	MRD or MUD: 9 pts	NR	3 pts died	7 pts alive	NR	Sensorineural deafness, kidney, heart, and skeletal defects
MECOM⁴⁹	0.7 y (0.2-13)	Progressive BMF	NR	BM (n = 9) and UCB (n = 1)	NR	3 pts died	7 pts alive	NR	Sensorineural deafness, kidney, heart, and skeletal defects
MECOM⁴⁸	6 pts	Progressive BMF	NR	NR	NR	2 deaths from cardiac problems	4 pts alive	10 mo	4 pts are alive with no major complications after HCT
MECOM⁴⁸	1.3 y (0.5-3)	Progressive BMF	NR	NR	NR	2 deaths from cardiac problems	4 pts alive	10 mo	4 pts are alive with no major complications after HCT
ERCC6L2⁴⁸	3 pts	BMF (n = 2)	NR	NR	NR	1 death EBV lymphoma	2 pts alive	1 and 14 y	2 pts are alive with no major complications after HCT
ERCC6L2⁴⁸	13; 14; 22 y	MDS (n = 1)	NR	NR	NR	1 death EBV lymphoma	2 pts alive	1 and 14 y	2 pts are alive with no major complications after HCT
	SAMD9: 4 pts	BMF (n = 3)	NR	NR	NR	2 deaths	8 pts alive	4 y (0.1-7)	SAMD9: 3 pts alive and well
SAMD9	SAMD9L: 6 pts	BMF (n = 3)							SAMD9: 3 pts alive and well
SAMD9L⁴⁸	3 y (1.5-33)	MDS (n = 7)							SAMD9L: 5 pts alive, one with neurological complication
SAMD9 SAMD9L⁵⁰	SAMD9: 6 pts SAMD9L: 6 pts 2.8 y (1.2-12)	MDS (n = 10) Other (n = 2)	MAC (n = 9) RIC (n = 3)	MRD or MUD (n = 9) Haplo (n = 1) UCBT (n = 2) BM (n = 10) UCB (n = 2)	A- GVHD: II-III 2 pts Mild C-GVHD: 2 pts	2 deaths AML (n = 1) DAH (n = 1)	10 pts alive	3.1 y (0.1-14)	SAMD9: all alive with developmental delays. MIRAGE syndrome (n = 4): short stature, adrenal insufficiency. SAMD9L: 4 pts alive. No neurologic manifestations thus far.

Disease and reference	No. pts, median age	Disease phase	Prep regimen	Donor type stem cell source	GVHD	TRM	OS	Follow-up	Comments
CAMT⁴⁶	63 pts	NR	MAC 82%	MRD or MUD > 80%	A-GVHD: II-IV 13%.	13% at 3 y	5-y OS: 76%	1,7 y (0.1-14)	No difference in OS according to donor or stem cell source
CAMT⁴⁶	7 y (0.5-17)	NR	MAC 82%	BM (n = 31); PB (n = 21); UCB (n = 11)	Extensive C-GVHD: 6.3%	13% at 3 y	5-y OS: 76%	1,7 y (0.1-14)	No difference in OS according to donor or stem cell source
GATA2⁴⁷	15 pts	MDS (n = 12)	73% CY + TBI	MRD or MUD 53%	A-GVHD: II- IV: 33%	20% at 1 y	5-y OS: 65% 5-y DFs:51	5,0 y (1-8.5)	Neurological toxicities and thrombotic events more frequent after GATA2 transplants
GATA2⁴⁷	15 y (5-20)	AL (n = 3)	73% CY + TBI	BM (n = 11) and UCB (n = 4)	Extensive C-GVHD 26%	20% at 1 y	5-y OS: 65% 5-y DFs:51	5,0 y (1-8.5)
MECOM⁴⁹	10 pts	Progressive BMF	NR	MRD or MUD: 9 pts	NR	3 pts died	7 pts alive	NR	Sensorineural deafness, kidney, heart, and skeletal defects
MECOM⁴⁹	0.7 y (0.2-13)	Progressive BMF	NR	BM (n = 9) and UCB (n = 1)	NR	3 pts died	7 pts alive	NR	Sensorineural deafness, kidney, heart, and skeletal defects
MECOM⁴⁸	6 pts	Progressive BMF	NR	NR	NR	2 deaths from cardiac problems	4 pts alive	10 mo	4 pts are alive with no major complications after HCT
MECOM⁴⁸	1.3 y (0.5-3)	Progressive BMF	NR	NR	NR	2 deaths from cardiac problems	4 pts alive	10 mo	4 pts are alive with no major complications after HCT
ERCC6L2⁴⁸	3 pts	BMF (n = 2)	NR	NR	NR	1 death EBV lymphoma	2 pts alive	1 and 14 y	2 pts are alive with no major complications after HCT
ERCC6L2⁴⁸	13; 14; 22 y	MDS (n = 1)	NR	NR	NR	1 death EBV lymphoma	2 pts alive	1 and 14 y	2 pts are alive with no major complications after HCT
	SAMD9: 4 pts	BMF (n = 3)	NR	NR	NR	2 deaths	8 pts alive	4 y (0.1-7)	SAMD9: 3 pts alive and well
SAMD9	SAMD9L: 6 pts	BMF (n = 3)							SAMD9: 3 pts alive and well
SAMD9L⁴⁸	3 y (1.5-33)	MDS (n = 7)							SAMD9L: 5 pts alive, one with neurological complication
SAMD9 SAMD9L⁵⁰	SAMD9: 6 pts SAMD9L: 6 pts 2.8 y (1.2-12)	MDS (n = 10) Other (n = 2)	MAC (n = 9) RIC (n = 3)	MRD or MUD (n = 9) Haplo (n = 1) UCBT (n = 2) BM (n = 10) UCB (n = 2)	A- GVHD: II-III 2 pts Mild C-GVHD: 2 pts	2 deaths AML (n = 1) DAH (n = 1)	10 pts alive	3.1 y (0.1-14)	SAMD9: all alive with developmental delays. MIRAGE syndrome (n = 4): short stature, adrenal insufficiency. SAMD9L: 4 pts alive. No neurologic manifestations thus far.

A-GVHD, acute GVHD; AL, acute leukemias; BM, bone marrow; BMF, bone marrow failures; CAMT, congenital amegakaryocytic thrombocytopenia; C-GVHD, chronic GVHD; CY, cyclophosphamide; DAH, diffuse alveolar hemorrhage; NR, not reported; pts, patients; TBI, total body irradiation; UCB, unrelated cord blood.

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