Synchronous sclerosing haemangiomas of the lung: an unusual presentation of a rare tumour

Chu, M.; Kumari, Hemlata; Bakar, Nor Salmah; Sachithanandan, Anand

doi:10.1136/bcr-2013-008829

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…Es bien circunscrita, usualmente solitaria y se ubica en parénquima periférico (4). Hay escasos reportes de crecimiento endobronquial (10, 11) y de lesiones múlti-ples y/o bilaterales (12)(13)(14)(15). La TAC y el PET scan no son específicos, pudiendo en algunos casos sugerir metástasis (16)(17)(18)(19)(20).…”

Section: Discussionunclassified

Caso Clínico: Hemangioma Esclerosante (Neumocitoma) Pulmonar

Vial¹,

Ibarra²,

Rodríguez³

2015

Revista Médica Clínica Las Condes

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RESUMENEl objetivo de este artículo es presentar un caso de raro de tumor pulmonar benigno, hemangioma esclerosante (neumocitoma), en una mujer de 24 años, asintomática, con hallazgo radiológico incidental. Se describen las características clínicas, imagenológicos y anátomo-patológicos de la entidad, con una breve revisión bibliográfica.Palabras clave: Pulmón, hemangioma, esclerosante, neumocitoma. SUMMARYWe present a rare case of benign lung neoplasia, sclerosing hemangioma (pneumocytoma), in a woman 24 years old, asymptomatic, with radiological incidental find. The clinical, imaging and pathological features of the entity are described, with brief bibliographic review.

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Section: Discussionunclassified

Caso Clínico: Hemangioma Esclerosante (Neumocitoma) Pulmonar

Vial¹,

Ibarra²,

Rodríguez³

2015

Revista Médica Clínica Las Condes

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“…3 Chu et al also described a case in which the sclerosing pneumocytomas were initially misdiagnosed as pulmonary adenocarcinomas. 8 Furthermore, Goel et al reported a case of a young girl in whom sclerosing pneumocytoma was initially mistaken for pulmonary tuberculosis. 9 Typically, sclerosing pneumocytomas are solitary, well-circumscribed lesions of 10-20 mm; however, size may vary.…”

Section: Case Reportmentioning

confidence: 99%

Unexpected diagnosis of multiple sclerosing pneumocytomas in a patient with chondrosarcoma of the hand

et al. 2021

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Sclerosing pneumocytomas are rare, benign pulmonary neoplasms that predominantly affect Asian female patients in the age category of 40–70 years, mostly non-smokers. We report on a 72-year-old Caucasian woman with chondrosarcoma of the hand who developed multiple bilateral progressive lung nodules suspicious of lung metastases. Staged lung resections were performed, and pathological diagnosis was confirmed by immunohistochemical analysis of the resected specimens. Next-generation sequencing (NGS) was used to detect gene mutations. Immunohistochemistry demonstrated sclerosing pneumocytomas, and NGS showed an IDH1 mutation. Eventually, the patient developed lung metastases for which rethoracotomy was performed. The differentiation of sclerosing pneumocytoma from lung cancer is a diagnostic challenge, and sclerosing pneumocytoma should be considered in the differential diagnosis of pulmonary nodules. Gene mutation analysis does not always show classical and common mutations, which should be kept in mind when interpreting its results.

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Molecular Genetic Landscape of Sclerosing Pneumocytomas

Boland

Lee

Fritcher

et al. 2020

American Journal of Clinical Pathology

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Objectives Sclerosing pneumocytomas are rare pulmonary neoplasms that are typically benign. However, rare patients experience progressive disease, and therapy targeting specific genetic underpinnings could be an attractive therapeutic option. Recent studies have found recurrent AKT 1 mutations in sclerosing pneumocytoma, but little is known about whether oncogenic fusion genes may also be present. Methods To better understand the genetic background, 10 sclerosing pneumocytomas were subjected to next-generation sequencing cancer mutation panel testing (n = 9) and/or RNA sequencing (n = 3). The patients were all women (average age, 47 years; range, 17-74 years). Results Eight patients had solitary sclerosing pneumocytomas, while one had two tumors, and one had many bilateral tumors. Recurrent mutations were noted in genes involved in the mTOR pathway, including AKT1, PIK3R1, and PTEN. AKT1 alterations were particularly common, present in 78%. No recurrent genetic fusions were identified. The patient in our study with multiple bilateral lesions was treated with the mammalian target of rapamycin (mTOR) inhibitor everolimus, with no objective radiographic evidence of treatment response after 4 months. Conclusions Our data further support that abnormal activation of the mTOR pathway is a consistent genetic event in sclerosing pneumocytoma. This warrants further exploration to determine if mTOR pathway inhibitors may be effective in patients with metastatic or recurrent disease.

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Synchronous sclerosing haemangiomas of the lung: an unusual presentation of a rare tumour

Cited by 3 publications

References 7 publications

Caso Clínico: Hemangioma Esclerosante (Neumocitoma) Pulmonar

Caso Clínico: Hemangioma Esclerosante (Neumocitoma) Pulmonar

Unexpected diagnosis of multiple sclerosing pneumocytomas in a patient with chondrosarcoma of the hand

Molecular Genetic Landscape of Sclerosing Pneumocytomas

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