Table 2.

Disorders that Predispose to Myeloid Neoplasms without Monosomy 7

Gene(s)DisorderMOINonhematologic FindingsHematologic Findings
ACD
CTC1
DKC1
NHP2
NOP10
PARN
RTEL1
TERC
TERT
TINF2
WRAP53 		Telomere biology disorders incl dyskeratosis congenitaAR
AD
XL		Immune deficiency, pulmonary fibrosis, hepatopulmonary syndrome, cancer predisposition incl leukoplakia, nail dystrophy, reticular rash, early grayingBone marrow failure; 30% develop MDS/AML; rarely, other types of lymphoma/leukemia
ANKRD26 ANKRD26-related thrombocytopenia ADNoneMild-to-moderate thrombocytopenia w/normal platelet size; erythrocytosis; ~10% develop MDS/AML.
ATM Ataxia-telangiectasia ARProgressive cerebellar ataxia, telangiectasias, immune deficiency, infections, high risk for solid tumorsLymphoma, T-cell leukemia; AML less common but occurs w/complex karyotype
ETV6 ETV6 thrombocytopenia & predisposition to leukemia ADPredisposition to solid tumors incl colorectal cancerThrombocytopenia, acute lymphoblastic leukemia (most common hematologic malignancy), MDS, AML, mixed-phenotype acute leukemia, lymphoma
MPL Congenital amegakaryocytic thrombocytopenia (OMIM 604498)AROrgan dysfunction due to hemorrhagic eventsTransfusion-dependent thrombocytopenia, progression to aplastic bone marrow failure; rarely, myeloid neoplasms
NBN Nijmegen breakage syndrome ARMicrocephaly, craniofacial features, growth deficiency, recurrent infections due to immune deficiency; DD, solid tumorsLymphoma, neutropenia; rarely, myeloid leukemia w/complex karyotypes
RPL5
RPL11
RPL35a
RPS10
RPS17
RPS19
RPS24
RPS26 1		 Diamond-Blackfan anemia ADCraniofacial, upper limb, heart, & genitourinary malformations; poor growth; DDPure red cell aplasia, aplastic anemia, up to 20% develop MDS/AML.
SRP72 Bone marrow failure syndrome 1 (OMIM 614675)ADCongenital deafnessPancytopenia, myelodysplasia

AD = autosomal dominant; AML = acute myeloid leukemia; AR = autosomal recessive; DD = developmental delay; MDS = myelodysplastic syndrome; MOI = mode of inheritance; XL = X-linked

1.

Eleven additional ribosomal proteins have been associated with autosomal dominant Diamond-Blackfan anemia, though each at lower frequencies than the genes included in Table 2.

From: Monosomy 7 Predisposition Syndromes Overview

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