Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex

Shoji, Tetsuaki; Niida, Yo; Osawa, Takahiro; Matsumoto, Ryuji; Sakurai, Kotaro; Suzuki, Masaru; Matsuno, Yoshihiro; Konno, Satoshi

doi:10.1016/j.rmcr.2021.101526

Cited by 2 publications

(2 citation statements)

References 19 publications

(22 reference statements)

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“…Retinal hamartoma was more common in TSC2 patients, and only two of the 28 cases were TSC1 patients. Conversely, more MMPH was found in TSC1 patients, and only one of the seven was a TSC2 patient [ 42 ]. Cardiac rhabdomyomas were also found in TSC1 patients, but were approximately twice as common in TSC2 patients.…”

Section: Discussionmentioning

confidence: 99%

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Togi

Ura

Hatanaka

et al. 2022

IJMS

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function mutations in either TSC1 or TSC2. Genotype and phenotype analyses are conducted worldwide, but there have been few large-scale studies on Japanese patients, and there are still many unclear points. This study analyzed 283 Japanese patients with TSC (225 definite, 53 possible, and 5 genetic diagnoses). A total of 200 mutations (64 TSC1, 136 TSC2) were identified, of which 17 were mosaic mutations, 11 were large intragenic deletions, and four were splicing abnormalities due to deep intronic mutations. Several lesions and symptoms differed in prevalence and severity between TSC1 and TSC2 patients and were generally more severe in TSC2 patients. Moreover, TSC2 missense and in-frame mutations may attenuate skin and renal symptoms compared to other TSC2 mutations. Genetic testing revealed that approximately 20% of parents of a proband had mild TSC, which could have been missed. The patient demographics presented in this study revealed a high frequency of TSC1 patients and a low prevalence of epilepsy compared to global statistics. More patients with mild neuropsychiatric phenotypes were diagnosed in Japan, seemingly due to a higher utilization of brain imaging, and suggesting the possibility that a significant amount of mild TSC patients may not be correctly diagnosed worldwide.

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Section: Discussionmentioning

confidence: 99%

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Togi

Ura

Hatanaka

et al. 2022

IJMS

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“…The Food and Drug Administration approved Everolimus for TSC-associated SEGAs, renal angiomyolipomas, and epilepsy. Imaging and serological improvements in MMPH have been reported with everolimus treatment in some cases (24)(25)(26) Consent for publication: Written informed consent was obtained from the patient for publication of this case report and any accompanying images.…”

Section: Discussionmentioning

confidence: 99%

Multifocal micronodular pneumocyte hyperplasia mimicking lung cancer

Deng

Cai

Tang

et al. 2022

Preprint

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Background Tuberous sclerosis complex (TSC) is a disease characterized by systemic hamartomas(1). Multifocal micronodular pneumocyte hyperplasia is a pulmonary manifestation of tuberous sclerosis complex presenting as diffuse multiple small nodules(2). Sclerotic bone lesions are commonly observed in TSC and present as multiple osteosclerotic bone lesions(3). The coexistence of these two benign lesions is easy to misdiagnose as malignant tumors. Case presentation A patient presented with multiple pulmonary ground-glass nodules and osteosclerotic bone lesions found in CT. 18F-FDG PET/CT showed metastatic carcinoma or diffuse lung cancer with multiple bone metastases. She was diagnosed with diffuse lung cancer with multiple bone metastases at first but ultimately confirmed as TSC by genetic sequencing. Conclusions Although 18F-FDG PET/CT is playing an increasingly important role in tumor diagnosis, we still need to take the results dialectically. Doctors from multiple disciplines need to be sensitive to the nonspecific findings of TSC found on imaging, skin manifestations are the most intuitive diagnostic clues to the disease.

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Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex

Cited by 2 publications

References 19 publications

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Multifocal micronodular pneumocyte hyperplasia mimicking lung cancer

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