HRAS-mutated primary thyroid malignant melanoma or medullary thyroid carcinoma with melanocytic dedifferentiation? A singular case with an ontogeny–phylogeny quandary

Subramanian, Priyadarsani; Deshmukh, Anuja; Rabade, Katha; Patil, Asawari; Pai, Trupti; Kaur, Ramandeep; Rane, Swapnil; Shetty, Omshree; Ankathi, Suman Kumar; Mittal, Neha

doi:10.1007/s00428-023-03619-1

Cited by 3 publications

(1 citation statement)

References 20 publications

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“…On postoperative analysis, CD1a and S100 immunoreactivity are noted in the Langerhans' cells, and the lesion is often driven by a BRAF V600E mutation [45]. The presence of melanotic pigment in the thyroid ("black thyroid gland") is closely associated with prolonged minocycline therapy but rarely may also represent melanotic MTC [47,48]. It is crucial to exclude metastatic melanoma when faced with an aspirate showing lesional cells with intracytoplasmic pigment.…”

Section: Other Forms Of Cellular Atypiamentioning

confidence: 99%

Pitfalls in Thyroid Fine-Needle Aspiration Cytopathology: An Approach to Atypical Findings

Juhlin,

Baloch

2023

Acta Cytologica

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Background: Thyroid nodules are prevalent among the general population, thus imposing substantial demands upon healthcare providers to establish effective management paradigms when investigating these lesions. A pivotal component in the diagnostic process involves the cytomorphologic evaluation of fine needle aspiration (FNA) specimens extracted from the nodule under scrutiny. This examination serves the critical purpose of enabling a comprehensive assessment for the risk of either a neoplasm or malignancy, thereby providing the clinical team with the requisite information to render decisions regarding potential surgical intervention and/or a structured clinical follow-up. A subset of FNA specimens obtained from the thyroid gland present a vexing challenge for interpretation and cannot be classified based on cytomorphology as either benign or malignant and are classified as “indeterminate” for neoplasm or malignancy. The indeterminate thyroid FNA diagnosis in the third iteration of the Bethesda classification are termed as "atypia of undetermined significance" (AUS). Summary: The thyroid FNA specimens classified as “atypical” constitutes a perplexing category, necessitating considerations such as repeated cytological evaluations, supplementary molecular analyses, diagnostic lobectomy, or vigilant surveillance. This review article draws upon the most recent Bethesda classification guidelines and delineates various potential pitfalls encountered during the interpretation of atypia observed in thyroid fine needle aspiration and histopathologic counterparts. Additionally, it proffers strategic algorithms devised to effectively navigate these diagnostic challenges.

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Section: Other Forms Of Cellular Atypiamentioning

confidence: 99%

Pitfalls in Thyroid Fine-Needle Aspiration Cytopathology: An Approach to Atypical Findings

Juhlin,

Baloch

2023

Acta Cytologica

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A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody

LUO,

Li,

et al. 2024

Preprint

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Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first Chinese child with bone fractures, a seizure history, and novel recurrent gastrointestinal manifestations of CSHS, including diarrhea and bowel obstruction. The effectiveness of conventional therapy and anti-FGF-23 antibody (burosumab) was evaluated. High-throughput DNA sequencing was performed on the patient's blood DNA, skin tissue, oral mucosa, and hair follicles to identify causative mutations. The child had a tissue-differentiated somatic activating HRAS p.G13R mutation. Burosumab resulted in a steady increase in blood phosphorus levels and a significant improvement in the patient's clinical symptoms and physical function compared to conventional phosphate therapy. It is suggested that younger children may receive a higher initial dosage of burosumab for better outcomes. However, long-term follow-up is still necessary to confirm its efficacy and safety.

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Thyroid Nodules and Biopsy

Serdar Deniz

2024

Hypothyroidism - Causes, Screening and Therapeutic Approaches [Working Title]

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The present chapter provides an in-depth review of the prevalence, diagnostic challenges, and management strategies for thyroid nodules, emphasizing the integration of various diagnostic modalities to enhance precision and guide therapeutic decisions. Thyroid nodules are frequently encountered in clinical settings, with a significant proportion detected incidentally. While most are benign, the potential for malignancy necessitates careful evaluation, primarily through ultrasound-guided fine-needle aspiration (FNA). However, FNA has limitations, including unsatisfactory and indeterminate results, which may lead to unnecessary interventions. The chapter discusses the evolution of diagnostic techniques, including the role of ultrasonography, molecular diagnostics, and core needle biopsy, alongside traditional FNA. It highlights recent clinical experiences and studies that address diagnostic ambiguities, aiming to optimize patient outcomes by reducing unnecessary surgeries and improving diagnostic accuracy. The impact of external factors, such as the COVID-19 pandemic on thyroid nodule diagnostics, is explored. Through a comprehensive analysis, the chapter seeks to provide clinicians with updated strategies and insights into managing thyroid nodules effectively in diverse clinical contexts.

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HRAS-mutated primary thyroid malignant melanoma or medullary thyroid carcinoma with melanocytic dedifferentiation? A singular case with an ontogeny–phylogeny quandary

Cited by 3 publications

References 20 publications

Pitfalls in Thyroid Fine-Needle Aspiration Cytopathology: An Approach to Atypical Findings

Pitfalls in Thyroid Fine-Needle Aspiration Cytopathology: An Approach to Atypical Findings

A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody

Thyroid Nodules and Biopsy

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