Analysis of chromosomal imbalances in an elderly woman with a giant cell tumour

Garcı́a, Juan Luis; Robledo, Cristina; Lumbreras, Eva; Flores, Teresa; Ramos, Luis; Hernández, Jesús M.

doi:10.1007/s00428-005-0079-z

Cited by 5 publications

(3 citation statements)

References 15 publications

(22 reference statements)

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“…Approximately 15% of conceptions are lost between the fourth and 12th week of gestation (early clinical pregnancy loss), and 4% between 12 and 22 wk gestation (late loss) (Ellish et al 1996;Zinaman et al 1996;Nybo et al 2000;Ugwumadu et al 2003). Older data suggested that, of all clinically recognized pregnancies, 15% -20% end in miscarriage (Warburton and Fraser 1964) and of those analyzed, a high rate of anatomic and chromosomal abnormalities were identified (Garcia et al 2006). Where studied, most pregnancy losses are related to aneuploidy or other severe genetic conditions that are incompatible with extrauterine life (Boue et al 1975a,b;De Braekeleer and Dao 1990).…”

Section: Impact and Incidence Of Monogenic Diseasesmentioning

confidence: 99%

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Smith

Willig

Kingsmore

2015

Cold Spring Harb Perspect Med

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Section: Impact and Incidence Of Monogenic Diseasesmentioning

confidence: 99%

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Smith

Willig

Kingsmore

2015

Cold Spring Harb Perspect Med

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“…Gorunova, et al suggested that local recurrence probably depends more on the adequacy of surgical treatment than on the intrinsic biology of the tumors [32]. In contrast, other authors proposed that the intrinsic biology of the tumors, such as DNA, may be associated with the recurrence of GCT of bone [33][34][35]. Jeffrey, et al found telomeric association and del(11)(p11) to have strong association with local recurrence of GCT of bone [36].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Abnormalities Associated With Local Recurrence or Pulmonary Metastasis of Giant Cell Tumor of Bone in Thai Adults: A Prospective Cohort Study With 6 Years of Follow-Up

Ruangsomboon

Heepchantree

Reingrittha

et al. 2021

Preprint

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Background: Giant cell tumor (GCT) of bone demonstrates chromosomal abnormalities. This study aimed to investigate the prognostic role of chromosomal abnormalities of primary GCT of bone relative to local recurrence or pulmonary metastasis.Methods: This prospective longitudinal cohort study with 6 years of follow-up included consecutive patients with primary GCT of bone that were surgically treated during 2011 to 2013 at the Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. All patients underwent surgical resection with extended intralesional curettage and phenol local adjuvant therapy. Systematic cytogenetic analysis compared cytogenetic abnormalities between patients with and without local recurrence or pulmonary metastasis. Fifteen patients were eligible, enrolled, and had successful cytogenetic analysis.Results: The median follow-up time was 46 months (interquartile range [IQR]: 32-58). Five patients experienced local recurrence or pulmonary metastasis with a median time to recurrence of 6 months (IQR: 3.25-10.5). The mean number of abnormal cells in the primary culture compared between those with local recurrence or pulmonary metastasis and those without was 24.4 vs. 9.6 cells, respectively (p=0.04). A similar pattern was observed in the cultures of the subsequent four passages (all p<0.05). Forty-five patterns of clonal telomeric association (tas) were observed in passaged cultures. Six tas patterns were associated with local recurrence or pulmonary metastasis, including tas(11;19)(p15;q13.4), tas(15;19)(q26.3;q13.4), tas(15;22)(p13;p13), tas(16;19)(p13.3;q13.4), tas(17;19)(p13;q13.4), and tas(19;22)(q13.4;q13).Conclusions: The mean number of abnormal cells and the six identified TAS patterns may be valuable prognostic factors for local recurrence or pulmonary metastasis of GCT tumor of bone.

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“…Many large reviews [2,3] have been published on giant cell tumor, however, they include only a few elderly patients. Few isolated cases of GCT in old age have been reported either in an unusual location [4,5] or associated with chromosomal abnormalities [6]. On extensive search of literature, we came across only a single case series focusing on giant cell tumor of bone in elderly patients [7].…”

Section: Discussionmentioning

confidence: 99%

Giant Cell Tumor Bone in an Elderly Male- an Unusual Case Misdiagnosed on MRI as a Malignant Sarcoma

Pujani

Bahadur

Jairajpuri

et al. 2015

Indian J Surg Oncol

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Giant cell tumor (GCT) of the bone is a benign locally aggressive neoplasm which accounts for 3-8 % of all primary bone tumors. 60-70 % of the patients with giant cell tumor of the bone occur in the age group of 20-40 years. Patients older than 55 years of age very rarely develop GCT. Although many case series have been published on giant cell tumor of the bone, even on extensive search of literature, we found only a single series of 10 cases focusing exclusively on giant cell tumors in elderly. They observed that there was no difference in behavior of GCT in elderly and younger patients in terms of location of tumor, radiographic features and clinical course. We present a case of GCT of tibia in an elderly male without any evidence of malignant transformation or dedifferentiation, despite magnetic resonance imaging revealing features of a malignant lesion.

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Analysis of chromosomal imbalances in an elderly woman with a giant cell tumour

Cited by 5 publications

References 15 publications

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Chromosomal Abnormalities Associated With Local Recurrence or Pulmonary Metastasis of Giant Cell Tumor of Bone in Thai Adults: A Prospective Cohort Study With 6 Years of Follow-Up

Giant Cell Tumor Bone in an Elderly Male- an Unusual Case Misdiagnosed on MRI as a Malignant Sarcoma

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