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Last update 08 May 2025

Monosomy 7 of Bone Marrow

Last update 08 May 2025

Basic Info

Synonyms

Bone marrow monosomy 7, CHROMOSOME 7q DELETION, M7MLS1

+ [7]

Introduction

An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by an increased risk of developing myelodysplastic syndrome and acute myelogenous leukemia.

Drugs associated with Monosomy 7 of Bone Marrow

SEL-120

Target

CDK19 x CDK8

Mechanism

CDK19 inhibitors [+1]

Active Org.

Ryvu Therapeutics SA

Originator Org.

Ryvu Therapeutics SA

Active Indication

Myelofibrosis [+6]

Inactive Indication-

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Monosomy 7 of Bone Marrow

NCT06243458

/ RecruitingPhase 2

A Phase II, Open-label, Multicenter Study of Orally Administered RVU120 for the Treatment of Anemia in Patients With Lower-risk Myelodysplastic Neoplasms (MDS)

This study will evaluate orally administered RVU120, a novel small molecule Cyclin-dependent Kinase (CDK) 8/19 inhibitor, in terms of erythroid hematologic improvement (HI-E) and safety in participants with lower-risk myelodysplastic syndrome (MDS). Responding patients are eligible to continue treatment until loss of response/disease progression.

Start Date10 Sep 2024

Sponsor / Collaborator

GCP Service International Ltd & Co KG

[+6]

100 Clinical Results associated with Monosomy 7 of Bone Marrow

100 Translational Medicine associated with Monosomy 7 of Bone Marrow

0 Patents (Medical) associated with Monosomy 7 of Bone Marrow

101

Literatures (Medical) associated with Monosomy 7 of Bone Marrow

01 Jun 2024·Experimental Hematology

Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome

Review

Author: Cammenga, Jörg

SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. Germline gain-of-function (GL GOF) mutations in SAMD9/SAMD9L are the genetic cause of MIRAGE syndrome, ataxia-pancytopenia (ATXPC) syndrome, myeloid leukemia syndrome with monosomy 7 (MLSM7), refractory cytopenia of childhood (RCC), transient monosomy 7 in children, SAMD9L-associated autoinflammatory disease (SAAD), and a proportion of inherited aplastic anemia and bone marrow failure syndromes. The myeloid neoplasms associated with GL GOF SAMD9/SAMD9L mutations have been included in the World Health Organization (WHO) 2022 classification. The discovery of SAMD9/SAMD9L-related diseases has revealed some interesting pathobiological mechanisms, such as a high rate of primary somatic compensation, with one of the mechanisms being (transient) monosomy 7 a mechanism also described as "adaption by aneuploidy." The somatic compensation in the blood can complicate the diagnosis of SAMD9/SAMD9L-related disease when relying on hematopoietic tissues for diagnosis. Recently, GL loss-of function (LOF) mutations have been identified in older individuals with myeloid malignancies in accordance with a mouse model of SAMD9L loss that develops a myelodysplastic syndrome (MDS)-like disease late in life. The discovery of SAMD9/SAMD9L-associated syndromes has resulted in a deeper understanding of the genetics and biology of diseases/syndromes that were previously oblivious and thought to be unrelated to each other. Besides giving an overview of the literature, this review wants to also provide some practical guidance for the classification of SAMD9/SAMD9L variants that is complicated by the nonrecurrent nature of these mutations but also by the fact that both GL GOF, as well as loss-of-function mutations, have been identified.

29 Jan 2024·Cureus

New-Onset Monosomy 7-Induced Pancytopenia in a 66-Year-Old Woman

Author: Covey, David ; Dillinger, Colten ; Lim, Jayton A ; Martin, David E ; Brock, Jordan M

Myelodysplastic syndrome (MDS) is characterized by failure to initiate hematopoiesis or impaired maturation of cells, often presenting with pancytopenias with or without associated fatigue, infections, or inappropriate bleeding and bruising. Karyotype analyses of MDS patients commonly show deletion of the q arm of chromosome 7, suggesting loss of this region is likely implicated in the insufficient hematopoiesis seen in MDS. The predisposition to deletion of 7q is commonly inherited, with clinical presentation in early childhood associated with pancytopenia or hematological malignancy. In this case, we present a 66-year-old female who was incidentally found to be pancytopenic in the emergency department while being evaluated for dyspnea, with a bone marrow biopsy later confirming a diagnosis of MDS with monosomy 7. Sporadic loss of 7q can occur at any stage in life without any family history of hematological disease. Our patient has no known personal or family history of MDS, with normal blood counts during hospitalization three years prior, suggesting de novo loss of 7q occurring at greater than 60 years of age.

01 Mar 2023·Journal of Pediatric Hematology/Oncology

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation

Article

Author: Kato, Motohiro ; Morio, Tomohiro ; Morioka, Ichiro ; Ebihara, Yasuhiro ; Yagasaki, Hiroshi ; Ueno, Masaru ; Kanezawa, Koji ; Shimozawa, Katsuyoshi ; Gocho, Yoshihiro ; Hirai, Maiko ; Imai, Kohsuke ; Narumi, Satoshi

Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post–cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow–derived CD34+ cells was inferred.

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Monosomy 7 of Bone Marrow

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