5q- Syndrome in a Child With Slowly Progressive Pancytopenia

Pitman, Sean D.; Victorio, Anthony; Rowsell, Edward H.; Morris, Joan K.; Wang, Jun

doi:10.1097/01.mph.0000210410.48877.15

Cited by 7 publications

(8 citation statements)

References 9 publications

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“…12 Many researchers recommend treatment with lenalidomide to achieve good results in the adult with 5q− syndrome. 13,14 The pediatric MDS with −5/5q− abnormality is rare, and the prognosis is very poor, 15 so HSCT is still recommended. 16 Lenalidomide is rarely used in children, and there were only a few reports in children with solid tumor and MDS at present.…”

Section: Discussionmentioning

confidence: 99%

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Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature

Zheng

Jia²,

Zhang³

et al. 2021

Journal of Pediatric Hematology/Oncology

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Rationale: Juvenile myelomonocytic leukemia (JMML) is a rare hematopoietic disorder, which is more rarely accompanied by monosomy 5 or deletion of the long arm of chromosome 5q (−5/5q−) or monosomy 5 (5q−/−5), and hemophagocytic lymphohistiocytosis (HLH) is a rare, uncontrolled hyperinflammation condition, which is more rarely secondary to JMML. Up to now, only a few cases of JMML with −5/5q− and HLH secondary to JMML were described. Here we described an extremely rare case of HLH second to JMML with 5q−. Patient Concerns: The patient had multiple cafe-au-lait-spots at birth and was found that NF1 gene mutation was positive. At his 6 years old, he developed hepatosplenomegaly, anemia, thrombocytopenia, monocyte count 4.12×109/L in peripheral blood, 13% blasts in peripheral blood, and 11% blasts in bone marrow, without BCR/ABL rearrangement, combining with positive NF1 gene mutation, he was diagnosed as JMML. In the bone marrow, there was chromosomal abnormalities with −5/5q−. In the treatment, HLH occurred. Diagnoses: The patient was diagnosed as secondary HLH to JMML. Interventions: The patient received the chemotherapy treatment of the improved diffuse alveolar hemorrhage protocol, and meanwhile, he prepared for hematopoietic stem cell transplantation. Then on the basis of anti-infection, symptomatic and supportive therapy, he was commenced the treatment according to the HLH-2004 protocol. Outcomes: He had a partial response, manifesting that his fever resolved, but the blood coagulation function did not improve, and the severe thrombocytopenia remained. Then, the parents refused the continual treatment, and the child died of intracranial hemorrhage 3 months after the diagnosis of JMML. Lessons: JMML and HLH were relatively easy to diagnose based on clinical and laboratory results. Due to the low incidence of JMML with −5/5q− and HLH secondary to JMML, no clinical practice guidelines for the treatment of the disease have been established yet. The clinical data of a case of HLH secondary to JMML with 5q− were analyzed, and relevant studies were studied.

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Section: Discussionmentioning

confidence: 99%

“…The pediatric MDS with −5/5q− abnormality is rare, and the prognosis is very poor,15 so HSCT is still recommended 16. Lenalidomide is rarely used in children, and there were only a few reports in children with solid tumor and MDS at present 17.…”

Section: Discussionmentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature

Zheng

Jia²,

Zhang³

et al. 2021

Journal of Pediatric Hematology/Oncology

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“…MDS with low blasts and 5q deletion occurs predominately in middle aged to elderly females [ 17 ], with fewer than 10 cases previously reported in children and AYAs [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 ]. It was first described by Van den Berghe et al in 1974 [ 26 ], and further defined by Sokal et al in 1975 [ 27 ].…”

Section: Myelodysplastic Neoplasms Rare Entitiesmentioning

confidence: 99%

Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults

Brown,

Batra

2024

Cancers

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There are a variety of rare hematologic malignancies and germline predispositions syndromes that occur in children and adolescent young adults (AYAs). These entities are important to recognize, as an accurate diagnosis is essential for risk assessment, prognostication, and treatment. This descriptive review summarizes rare hematologic malignancies, myelodysplastic neoplasms, and germline predispositions syndromes that occur in children and AYAs. We discuss the unique biology, characteristic genomic aberrations, rare presentations, diagnostic challenges, novel treatments, and outcomes associated with these rare entities.

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“…This finding was also observed by other investigators. [15,16] Hence the diagnostic challenge is narrowed to differentiating MDS with low blast counts from aplastic anemia (AA) and MDS with excess blast from AML. Since RCC was the most common presentation in our childhood MDS cohort, MDS-related cytogenetic abnormality, when present, was of considerable importance in helping to differentiate between RCC and AA or IBMFS.…”

Section: Bone Marrow Cellularitymentioning

confidence: 99%

“…[19] The rarity of this cytogenetic change in children has been confirmed in other series also. [15,16]…”

Section: Cytogeneticsmentioning

confidence: 99%

Pediatric Myelodysplastic Syndrome: Cytomorphological Correlation with Outcome from a Single Tertiary Institution in Oman

Fawaz¹

2017

EJCBS

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Pediatric MDS is currently classified into three distinct groups namely MDS, Juvenile myelomonocytic leukemia (JMML) and Down Syndrome-associated leukemias (DSAL). The aim of this study was to evaluate pediatric MDS patients using the WHO 2008 morphological classification with the clinical outcome. In this retrospective single centre study, 19 pediatric MDS patients (median age 6 years; range 3 months -16 years) were analyzed for their initial presentation, type of progression, leukemic transformation and overall survival as well as MDS related cytogenetic abnormalities. The median follow-up was 26.5 months. The most common single presentation of childhood MDS was RCC (26%). Leukemic transformation was seen in almost half of this cohort but was completely restricted to the DSAL and RAEB-T subgroups only. The median survival in the MDS group was 50 months, whereas for the entire cohort it was 35 months. RCC cohort showed the best survival with the median of 53.75 months, whereas the Down-related disease cohort showed the worst survival estimates with a median of only 11.25 months. Multivariate analysis showed that gender, platelet count, HbF, bone marrow cellularity, bone marrow blast percentage contributed significantly to the prognosis and survival. The study shows that cytogenetics, including monosomy 7 did not influence the outcome or the overall survival of childhood MDS. We identified that thrombocytopenia and BM blasts >5% were associated with a poor survival in this childhood MDS cohort.

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5q- Syndrome in a Child With Slowly Progressive Pancytopenia

Cited by 7 publications

References 9 publications

Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature

Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature

Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults

Pediatric Myelodysplastic Syndrome: Cytomorphological Correlation with Outcome from a Single Tertiary Institution in Oman

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