Metachondromatosis without Enchondromas

Kanaya, Kohei; Ishikawa, Aki; Yaoita, Masako; Niihori, Tetsuya; Aoki, Yoko; Iba, Kousuke; Yamashita, Toshihiko

doi:10.2106/jbjs.cc.15.00182

Cited by 3 publications

(1 citation statement)

References 12 publications

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“…A similar clinical finding was previously described in a case of nineyear-old boy with LoF variant in the PTPN11 gene who presented with OC-like lesions in the hands and feet with OCs in the tibiae, all without any enchondromas [44]. The overlap between the two diseases has been discussed in other studies [31,43], and the current understanding of the molecular etiology of MC is limited, as only three studies have been published on this topic [25,26,44]. We also need to consider the young age of our probands with variants in the PTPN11 gene and without ECs.…”

Section: Discussionsupporting

confidence: 83%

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Borovikov,

Galeeva,

Marakhonov

et al. 2024

Human Mutation

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This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (OCs) through imaging studies and physical examinations. However, cases with both OCs and enchondromas (ECs) may indicate the more rare condition metachondromatosis (MC), which is assumed to be distinct disease. Previous cohort studies of MO found heterozygous loss-of-function (LoF) variants only in the EXT1 or EXT2 genes, with DNA diagnostic yield ranging from 78 to 95%. The PTPN11 gene, which is causative for MC, was not previously investigated as a gene candidate for MO. In this study, we detected a total of 177 unique single nucleotide and copy number variants in three genes across 220 probands, consisting of 80 previously reported and 97 novel variants. Specifically, we identified five cases with OCs and no ECs as well as four cases with MC carrying LoF variants in the PTPN11 gene and two additional cases with ECs harboring variants in the EXT1/2 genes. These findings suggest a potential overlap between the MO and MC both phenotypically and genetically. These findings highlight the importance of expanding genetic testing beyond the EXT1 and EXT2 genes in MO cases, as other genes such as PTPN11 may also be causative. This can improve the accuracy of diagnosis and treatment for individuals with MO and MC. It is essential to determine whether MO and MC represent distinct diseases or if they encompass a broader clinical spectrum.

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Section: Discussionsupporting

confidence: 83%

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Borovikov,

Galeeva,

Marakhonov

et al. 2024

Human Mutation

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Update on the imaging features of the enchondromatosis syndromes

2021

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An unusual example of hereditary multiple exostoses: a case report and review of the literature

Chilvers

Gallagher

Jeffery

et al. 2021

BMC Musculoskelet Disord

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Background Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones. Case presentation This case study examines a 55-year-old male cadaver bequeathed to the University of Liverpool who suffered from HME, thus providing an exceptionally rare opportunity to examine the anatomical changes associated with this condition. Conclusions Findings from imaging and dissection indicated that this was a severe case of HME in terms of the quantity and distribution of the osteochondromas and the number of synostoses present. In addition, the existence of enchondromas and the appearance of gaps within the trabeculae of affected bones make this a remarkable case. This study provides a comprehensive overview of the morbidity of the disease as well as adding to the growing evidence that diseases concerning benign cartilaginous tumours may be part of a spectrum rather than distinct entities.

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Metachondromatosis without Enchondromas

Abstract: To the best of our knowledge, this is the first reported case of a patient with metachondromatosis without any enchondromatous lesions.

Cited by 3 publications

References 12 publications

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Update on the imaging features of the enchondromatosis syndromes

An unusual example of hereditary multiple exostoses: a case report and review of the literature

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