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Hypertension is the only clue for the discovery of adrenal rhabdomyosarcoma

Hypertension Research volume 46, pages 2551–2552 (2023)Cite this article

We appreciate the report by Pandya, J and Agrawal, P on a 13-year-old boy with hypertension in whom a diagnosis of rhabdomyosarcoma (RMS) in the adrenal region was made [1]. RMS is a rare soft tissue tumor that most commonly develops in childhood and adolescence and originates from various parts of the body [2]. However, RMS in the adrenal region is extremely rare. It was first reported in 2011 [3], and there are only four cases in the existing English literature (Table 1) [1, 3,4,5]. While RMS is usually sporadic, some cases may be associated with inherited syndromes including neurofibromatosis and Li-Fraumeni syndrome. Of note, this report is the first report of RMS that was complicated with nevoid basal cell carcinoma syndrome with a pathogenic heterozygous variant in the PTCH1 gene [1].

Table 1 Clinical characteristics of patients with rhabdomyosarcoma in the adrenal region
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Clinical characteristics of previously reported patients with adrenal RMS are summarized in Table 1. The patients include two pediatric patients and two adult patients [1, 3,4,5]. Three of the four patients had medical histories of hypertension [1, 3,4,5]. The tumors were relatively large, ranging from 4 to 9.3 cm in size [1, 3,4,5]. While three patients had normal adrenal functions, the case reported by Pandya, J and Agrawal, P showed upregulated cortisol release [1, 3,4,5]. Surgical treatment with or without subsequent chemotherapy was successful in all patients [1, 3,4,5]. Immunohistochemically, RMS is positive for markers of skeletal muscle phenotype, including desmin, myogenin, and myogenic differentiation 1, and is classified into four subtypes: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic RMS [2]. Each subtype has distinctive morphologic features and characteristic gene abnormalities [2]. Among pediatric patients, embryonal RMS and alveolar RMS are the most prevalent, while pleomorphic RMS almost exclusively occurs in adults [2]. Embryonal RMS occurs in the head, neck, and genitourinary systems, while alveolar RMS and pleomorphic RMS commonly occur in the extremities [2]. Adrenal RMS showed various histologic classifications including embryonal, alveolar, and pleomorphic RMS (Table 1). It is known that alveolar RMS typically shows chromosomal translocations in the FOXO1 gene [2], which were negative in the case reported by Pandya, J and Agrawal, P [1].

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References

  1. Pandya J, Agrawal P. Rhabdomyosarcoma of adrenal region in a thirteen-year-old. Hypertens Res. 2023. https://doi.org/10.1038/s41440-023-01433-5.

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  1. Department of General Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, 700-8558, Japan

    Koichiro Yamamoto & Fumio Otsuka

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  1. Koichiro Yamamoto
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Correspondence to Fumio Otsuka.

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Yamamoto, K., Otsuka, F. Hypertension is the only clue for the discovery of adrenal rhabdomyosarcoma. Hypertens Res 46, 2551–2552 (2023). https://doi.org/10.1038/s41440-023-01426-4

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