Is there an association with constitutional structural chromosomal abnormalities and hematologic neoplastic process? A short review

Panani, Anna D.

doi:10.1007/s00277-008-0672-8

Cited by 8 publications

(5 citation statements)

References 47 publications

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“…In keeping with the multistep hypothesis of malignant transformation, a constitutional translocation by itself is in general not causative in hematologic disorder but probably plays a role in the neoplastic process. 37 In summary, our data show that pediatric t-MN may frequently be caused by the development of unbalanced chromosomal abnormalities. As a retrospective observational study on the rare and highly malignant neoplasm, our study is limited in that not all patients underwent genetic tests.…”

Section: Discussionmentioning

confidence: 63%

“…It is unclear if the constitutional t(X;9)(p22;q34) represented a random event or was associated with leukemia in the patient. In keeping with the multistep hypothesis of malignant transformation, a constitutional translocation by itself is in general not causative in hematologic disorder but probably plays a role in the neoplastic process 37…”

Section: Discussionmentioning

confidence: 94%

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Therapy-related Myeloid Neoplasms in Children: A Single-institute Study

Taylor²,

Kelly

et al. 2021

Journal of Pediatric Hematology/Oncology

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Therapy-related myeloid neoplasm (t-MN) in the pediatric population is not well characterized. We studied 12 pediatric patients diagnosed with t-MN in our institution since 2006. The median age at the t-MN diagnoses was 14.8 years (range, 9 to 20 y). The primary malignancies included 9 solid tumors and 3 hematopoietic malignancies. Rhabdomyosarcoma (n = 4) was the most common primary malignancy. Five of the 9 patients with solid tumors and all 3 patients with hematopoietic malignancies had primary neoplasms involving bone marrow. The median latency period was 5.2 years (range, 1.8 to 13.8 y). Thrombocytopenia was present in all patients at the t-MN diagnoses. Complete or partial monosomy of chromosome 5 or 7 were the 2 most common cytogenetic abnormalities. A quarter of patients demonstrated a genetic predisposition to t-MN: 1 with Li-Fraumeni syndrome with a germline TP53 R248Q mutation, 1 with Noonan syndrome with a somatic mutation (PTPN11 S502T), and 1 with a constitutive chromosomal translocation [t(X;9)(p22;q34)] and a germline TP53 L130V mutation. Outcomes remain poor. Two patients survived 3 and 5.1 years after hematopoietic stem cell transplantation.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 94%

Therapy-related Myeloid Neoplasms in Children: A Single-institute Study

Taylor²,

Kelly

et al. 2021

Journal of Pediatric Hematology/Oncology

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“…These results suggest that persons with constitutional chromosomal abnormalities do not have an increased risk of hematologic malignancy. However, there are some reports of constitutional translocations with breakpoints similar to leukemia-associated specific breakpoints in hematologic malignancy [14]. Patients treated with allogeneic HSCT are not representative of the general population, as they are exposed to radiotherapy, chemotherapy, and even immune dysfunction (T cell depletion, HLA mismatch, GVHD, and immunosuppressive therapy); these are risk factors for acquiring genetic mutations.…”

Section: Discussionmentioning

confidence: 99%

Inadvertent Transmission of a Donor’s Constitutional Chromosome Abnormality after Hematopoietic Stem Cell Transplantation

Yun

Jeon

et al. 2015

Soonchunhyang Med Sci

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A pre-transplant screening work-up of donors for allogeneic hematopoietic stem cell transplantation (HSCT) is essential. Inadvertent transmission of malignancy from donors with subclinical diseases to recipients has been reported recently in several cases. A 49-year-old male was diagnosed with acute myeloid leukemia. He underwent a course of induction chemotherapy and achieved cytogenetic complete remission (CR). He was treated with an additional cycle of consolidation chemotherapy followed by full matched sibling allogeneic HSCT due to an additional deletion in 9q known as an adverse prognostic factor. Post transplantation bone marrow biopsy revealed molecular CR, but conventional cytogenetics identified the presence of 46,XY,t(1:2)(p32:q35). A cytogenetic analysis of the donor graft specimen revealed t(1:2). We confirmed the donor origin of t(1:2). We report the first case of a person with constitutional t(1;2) serving as a stem cell donor.

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“…It is important to note that Klinefelter syndrome affects males, while triple syndrome affects females [49]. Acquired chromosomal abnormalities affect the person throughout life and are usually limited to a specific type of tissue [50]. For example, a person may suffer from CML, which can occur between the ages of 40 and 60, but rarely in young people.…”

Section: Types Of Chromosomal Abnormalitymentioning

confidence: 99%

The importance in Spectral Karyotyping (SKY)

Wieren¹

2020

Bioengineering Studies

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Spectral Karyotyping (SKY) is one of the most useful cytogenetic techniques for detecting the whole genome in all types of chromosomal abnormalities in any individual. This is because all types of chromosomal abnormalities affect many genes, leading to cancers and many types of syndromes such as Edward's and Down's syndromes, which result in mental disabilities, malformations, and/or improperly developed body parts in affected individuals. This review will explain how Spectral karyotyping works and how it is performed. In addition, the classification of chromosomal abnormalities is explained.

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Is there an association with constitutional structural chromosomal abnormalities and hematologic neoplastic process? A short review

Abstract: The

Cited by 8 publications

References 47 publications

Therapy-related Myeloid Neoplasms in Children: A Single-institute Study

Therapy-related Myeloid Neoplasms in Children: A Single-institute Study

Inadvertent Transmission of a Donor’s Constitutional Chromosome Abnormality after Hematopoietic Stem Cell Transplantation

The importance in Spectral Karyotyping (SKY)

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