Dataset Information

Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report.

ABSTRACT:

Introduction

Adrenal masses are a rare diagnosis in children, with bilateral masses even less common. At present, appearance of the mass on imaging and histology can give important clues to the diagnosis; however, there is significant overlap in 10-30% of cases and it can be difficult to distinguish benign from malignant adrenal masses. As a result, the clinical presentation remains a large part of the diagnostic process, as well as thorough endocrinology evaluation to determine if the tumor is functional versus nonfunctional.

Case presentation

We present a recent case of bilateral adrenal masses in a pediatric patient at our institution, with an unusual diagnosis of histiocytosis.

Conclusion

In this case, the diagnosis was unclear, until genetic testing and pathology allowed for expedient diagnosis and targeted therapy for this patient. We hope that presenting this case will increase physician awareness of this condition and expedite diagnosis and treatment in other patients with this rare presentation.

SUBMITTER: Bullock J

PROVIDER: S-EPMC10766400 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature

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Publications

Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report.

Bullock Julianne J Dreimane Daina D Cavannaugh Corey C

Case reports in oncology 20240104 1

<h4>Introduction</h4>Adrenal masses are a rare diagnosis in children, with bilateral masses even less common. At present, appearance of the mass on imaging and histology can give important clues to the diagnosis; however, there is significant overlap in 10-30% of cases and it can be difficult to distinguish benign from malignant adrenal masses. As a result, the clinical presentation remains a large part of the diagnostic process, as well as thorough endocrinology evaluation to determine if the t ...[more]

PMID: 38179548

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Project description:BackgroundProgressive nodular histiocytosis (PNH) is an extremely rare type of non-Langerhans cell histiocytosis, characterized by the emergence of hundreds small to large cutaneous papulonodules without spontaneous remission. It can be life-threatening if pharyngeal and laryngeal mucosa were involved, just as we reported in this case. Disfigurement and disabling are common, whereas current treatment options are of limited efficacy. At present, about 20 reported cases can be found through a PubMed search, fewer with treatment options. In this article, we report a unique case of a patient diagnosed with PNH, in whom regorafenib had a remarkably curative effect.Case presentationWe present the case of a 21-year-old man who developed lesions on his face, trunk, limbs, and exceptionally in the pharyngeal and laryngeal mucosa. Immunohistochemistry showed diffuse CD68 positivity and scattered S-100 positivity, while CD1α, smooth muscle actin (SMA) and B-Raf proto-oncogene, serine/threonine kinase (BRAF) were negative. Histopathological and biochemical examinations confirmed the diagnosis of PNH. The patient underwent facial lesion resections; however, the lesions recurred rapidly within 1 month. In December 2019, treatment with a small multi-kinase inhibitor, regorafenib (120 mg daily for 3 weeks on, and 1 week off), was initiated, and the patient's progress was monitored. After 10 days of administration, the patient's facial lesions began to gradually alleviate, and after 1 month, the lesions in the trunk, limb, and especially the face continued to subside even further. In 2021, the regorafenib dose was subsequently adjusted to 40 mg daily, with intermittent administration. No abnormalities were observed in the routine blood tests, liver, and kidney function results during the follow-ups to date. Presently, the patient's overall condition is good, the lesions are gradually improving, and the patient has returned to normal life and work.ConclusionsThis clinical report supports the future exploration of regorafenib treatment in patients with PNH.

Project description:BackgroundPrimary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome characterized by the presence of bilateral secretory adrenal nodules. Recent studies have shown that primary bilateral macronodular adrenal hyperplasia is caused by combined germline and somatic mutations of the ARMC5 gene. Exophthalmos is an underappreciated sign of Cushing's syndrome.Case presentationA 52-year-old Chinese woman with progressively worsening bilateral proptosis presented to our hospital. Subsequently she was diagnosed as having primary bilateral macronodular adrenal hyperplasia and underwent bilateral laparoscopic adrenalectomy. Genomic deoxyribonucleic acid was isolated from lymphocytes as well as seven different adrenal nodules and the ARMC5 sequence was determined by Sanger sequencing. We identified one heterozygous ARMC5 germline mutation c.682C>T (p. Gln228*) and five heterozygous somatic mutations (c.310delG, c.347_357del11, c.267delC, c.283_289del7, and c.205-322del118) in five different adrenal nodules. All mutations are novel and were not found in any of the available online databases. To test whether the ARMC5 mutation induced messenger ribonucleic acid decay, real-time reverse transcriptase polymerase chain reaction was performed on patient and control adrenal tissue. We found that the adrenal cortex of our patient showed a low ARMC5 messenger ribonucleic acid expression compared with normal adrenal cortex, possibly as a result of nonsense-mediated messenger ribonucleic acid decay CONCLUSIONS: We demonstrated extensive genetic diversity of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia that started with exophthalmos, which contributes to further understanding of the pathogenesis of this disease. Early recognition of atypical symptoms and screening for ARMC5 mutation in patients with primary bilateral macronodular adrenal hyperplasia has important clinical implications for the diagnosis and genetic counseling.

Dataset Information

Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report.

Introduction

Case presentation

Conclusion

Publications

Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report.

Similar Datasets

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