Thymoma and Myotonic Dystrophy: Successful Treatment With Chemotherapy and Radiation

Kudva, Ganesh C.; Maliekel, Kochurani; Kim, Han J.; Naunheim, Keith S.; Stolar, Cary; Fletcher, James; Puri, Sanjeev

doi:10.1378/chest.121.6.2061

Cited by 15 publications

(6 citation statements)

References 6 publications

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“…However, we did not observe statistical evidence of an increased risk of these cancers. Several studies have reported benign neoplasms observed in patients with myotonic dystrophy, especially pilomatricomas 22,23 and thymoma, [24][25][26][27][28][29] but data on benign neoplasms were not available in our patients with myotonic dystrophy to quantify their risks.…”

Section: Discussionmentioning

confidence: 99%

Increased Cancer Risks in Myotonic Dystrophy

Win

Perattur

Pulido

et al. 2012

Mayo Clinic Proceedings

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Section: Discussionmentioning

confidence: 99%

Increased Cancer Risks in Myotonic Dystrophy

Win

Perattur

Pulido

et al. 2012

Mayo Clinic Proceedings

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“…DM2 is caused by the CCTG expansion located in intron 1 of the zinc finger protein 9 ( ZNF9 ) gene on chromosome 3q21 1. Several malignant tumors are reportedly associated with DM1: ovarian cancer 2, insulinoma 3, 4, colon cancer 4, gastric cancer 4, laryngeal carcinoma 5, 6, thymoma 7, pituitary adenoma 8, renal cell carcinoma 5, lymphoma 9, 10, and leukemia 11.…”

Section: Introductionmentioning

confidence: 99%

Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14‐year‐old female with congenital myotonic dystrophy

Akiyama

Yuza

Yokokawa

et al. 2008

Pediatric Blood & Cancer

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We describe a rare case of acute lymphoblastic leukemia in a 14-year-old female with congenital myotonic dystrophy manifested as mental retardation, extensive contractures of multiple joints of the lower extremities, and severe scoliosis. Because of the potential toxicity of chemotherapy and the patient's poor performance status, a modified chemotherapy regimen was administered. Analysis of the greatly expanded number of CTG repeats at the 3' untranslated region of DMPK gene showed that the number of repeats was 233 greater in leukemic cells than in normal lymphocytes; this elongation may have occurred during the cellular proliferation of leukemic clones.

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“…The association of thymoma and DM1 has been described rarely,4, 5, 12, 20, 21, 23 although in only one such study was any evidence presented to suggest a concurrent diagnosis of MG 4. In this case, the patient demonstrated the classic clinical and electrophysiological features of DM1, but electrodiagnostic findings were only consistent with MG.…”

Section: Discussionmentioning

confidence: 96%

Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

2008

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Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multisystemic disorder that may rarely be associated with benign and malignant neoplasms. Cases of both thymoma and myasthenia gravis in association with DM1 are extremely rare. A literature review revealed only three prior reports. We present a 51-year-old man with a family history of DM1 and fluctuating diplopia and ptosis, who was found to have acetylcholine receptor-binding antibodies, thymoma, and a clinical presentation compatible with ocular myasthenia gravis as well as positive genetic testing for DM1. Needle electromyographic (EMG) study demonstrated diffuse runs of myotonic discharges in multiple muscles, consistent with the diagnosis of DM1. Single-fiber EMG showed both increased jitter and blocking. Due to somatic instability, which has been shown previously in DM1, the myotonin protein kinase (DMPK) gene appears to act as a tumor suppressor. Therefore, abnormal CTG repeat expansions in the gene could lead to the development of thymoma and myasthenia gravis.

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Thymoma and Myotonic Dystrophy: Successful Treatment With Chemotherapy and Radiation

Cited by 15 publications

References 6 publications

Increased Cancer Risks in Myotonic Dystrophy

Increased Cancer Risks in Myotonic Dystrophy

Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14‐year‐old female with congenital myotonic dystrophy

Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma

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