Publications by authors named "Machens A"
Background: Whether inherited in the context of multiple endocrine neoplasia 2B at germline level or acquired in a lifetime, all RET p.M918T (RET c.2753T>C) mutations should activate the RET tyrosine kinase receptor alike, with similar degrees of medullary thyroid cancer (MTC) progression when disparities in disease onset and multifocal growth are accounted for.
View Article and Find Full Text PDFPurpose: The tumor microenvironment often induces a scarring process known as tumor fibrosis or desmoplasia, which plays an important role in the initiation, progression, and clinical outcome of many types of cancer. This report aimed to highlight recent progress made in the field of de-escalation surgery for sporadic medullary thyroid cancer (MTC), building a bridge from basic science to current and emerging medical practice.
Methods: This narrative review entails a holistic description and interpretation of the English-language literature on MTC desmoplasia.
Article Synopsis
- There are two types of medullary thyroid cancer (MTC): hereditary and sporadic.
- Hereditary MTC often shows multiple tumors, while sporadic MTC isn't as clear about why it has multiple tumors.
- In sporadic MTC, tumors are connected to other serious issues like spreading to lymph nodes, but in hereditary MTC, it mainly relates to tumor size and how many tumors are present.
Article Synopsis
- The study looked at patients with medullary thyroid cancer (MTC) who had surgery over a 30-year period to see how often it happens in young people.
- Out of 1252 patients, only 4 who were under 18 years old had sporadic MTC, which means it wasn't passed down from their parents.
- These young patients had much larger tumors compared to those with hereditary MTC, suggesting sporadic MTC is rare in kids and teens.
Background: Conceptually, thyroid tumor desmoplasia may be better suited for excluding node metastases in sporadic MTC than preoperative serum calcitonin levels.
Methods: This analysis included 181 patients with unilateral sporadic MTC graded on the 7-grade desmoplasia scale after thyroidectomy and neck dissection.
Results: When thyroid tumor desmoplasia reached 1% and ≥50%, node metastases increased from 0% to 7% (median of 0 metastases) and 83% (median of 7.
Article Synopsis
- * The discovery of RET mutations led to the recommendation of preventive thyroid surgery for individuals with the mutation, changing how doctors approach treatment and risk management of MTC.
- * Monitoring calcitonin levels has become essential in assessing cancer risk and timing of surgery, making hereditary MTC more manageable and showing progress in medical research that benefits patients.
Article Synopsis
- - This study analyzed 683 individuals with various mutations in the RET gene associated with multiple endocrine neoplasia type 2 (MEN 2), focusing on how these mutations impact age-specific disease development.
- - The research found distinct age patterns in the progression from C cell disease to medullary thyroid cancer (MTC), pheochromocytoma, and primary hyperparathyroidism, differing significantly by RET mutation type.
- - Findings suggest that understanding these age-specific development patterns can help in assessing risks and planning targeted monitoring for new RET mutation carriers.
Skip metastases, node metastases in the lateral neck sparing the ipsilateral central neck, challenge the current concept of central-to-lateral lymphatic spread. This study sought to delineate patterns of central and lateral neck involvement in unilateral papillary thyroid cancer (PTC) and medullary thyroid cancer (MTC). This was a retrospective correlative analysis of nodal patterns in surgical specimens from patients with unilateral PTC or MTC who had undergone thyroidectomy with at least ipsilateral central neck dissection between November 1994 and January 2024 at a tertiary referral center.
View Article and Find Full Text PDF(1) Background: The wider adoption of a preoperative ultrasound and calcitonin screening complemented by an intraoperative frozen section has increased the number of patients with occult sporadic medullary thyroid cancer (MTC). These advances offer new opportunities to reduce the extent of the initial operations, minimizing operative morbidity and the risk of postoperative thyroxin supplementation without compromising the cure. (2) Methods: This systematic review of the international literature published in the English language provides a comprehensive update on the latest progress made in the risk-adapted surgery for sporadic and hereditary MTC guided by an intraoperative frozen section.
View Article and Find Full Text PDFAccelerated MEN2A in homozygous RET carriers in the context of consanguinity.
Eur J Endocrinol
March 2024
Article Synopsis
- Homozygous mutations, where individuals inherit identical gene versions from both parents, are rare, and related clinical information is sparse, making it challenging to develop comprehensive understandings.
- In this study, researchers analyzed five families with instances of both homozygous and heterozygous carriers, finding that homozygous individuals typically developed more severe cases of thyroid cancer and pheochromocytoma significantly earlier than heterozygous individuals.
- The findings suggest that consanguinity influences the age of onset for these cancers, indicating a moderate dose-response effect in the development of multiple endocrine neoplasia type 2A (MEN2A).
[Individualization of treatment in sporadic and hereditary medullary thyroid cancer].
Chirurgie (Heidelb)
March 2024
Background: Routine preoperative assessment of the tumor marker calcitonin for medullary thyroid cancer (MTC) and the generally improved diagnostics with high-resolution ultrasound, elastography and Doppler function as well as functional imaging, enable the earlier detection of organ-limited, non-metastasized MTC. Thereby, a new treatment option arises for surgical de-escalation in sporadic MTC, moving from routine thyroidectomy with bilateral central lymph node dissection towards unilateral thyroidectomy with ipsilateral central lymph node dissection.
Material And Methods: A search was carried out in PubMed for surgical approaches and selection of publications with results from limited resection in sporadic MTC.
Thyroid cancer is the only nonreproductive cancer with striking female predominance, although men with thyroid cancer develop more aggressive disease. This study aimed to quantify sex-specific differences in medullary thyroid cancer (MTC) spread after controlling for primary thyroid tumor size. Included in this retrospective analysis were all patients with unilateral solitary MTC who underwent initial neck surgery at a tertiary referral center.
View Article and Find Full Text PDFBackground: While primary tumor desmoplasia is a powerful biomarker of node metastases in sporadic medullary thyroid cancer (MTC), information for hereditary MTC is sparse.
Methods: This proof-of-concept study, comprising 3 consecutive children with multiple endocrine neoplasia 2B, evaluated simultaneously the metastatic behavior of multiple primary thyroid tumors of disparate size and extent of desmoplasia within patients.
Results: Altogether, MTC typically involved the ipsilateral central neck before spreading to the ipsilateral lateral and the contralateral neck.
Purpose Of Review: Significant advances have transformed our understanding of the molecular biology and natural history of multiple endocrine neoplasia type 2 (MEN2). This progress enacted a paradigm shift with regard to routine neck dissection for medullary thyroid cancer and total adrenalectomy for pheochromoytoma. The purpose of this review is to summarize key molecular and clinical data underpinning the current risk-based approach to MEN2 that integrates molecular and biomarker results.
View Article and Find Full Text PDFArticle Synopsis
- The study looked at whether a smaller surgery can safely replace a bigger one for patients with a type of thyroid cancer called medullary thyroid cancer.
- They found that patients whose tumors didn’t have a certain mark (desmoplasia-negative) needed less surgery and had better outcomes than those with the mark (desmoplasia-positive).
- The researchers suggest that a simpler type of surgery, called hemithyroidectomy, is effective for these patients and propose a new name for their condition: sporadic noninvasive medullary thyroid neoplasm (SNMTP).
Little is known about axillary node metastasis of medullary thyroid cancer (MTC). To address this, a comparative study of patients with and without axillary node metastases of MTC was conducted. Among 1215 consecutive patients with MTC, 482 patients had node-negative MTC and 733 patients node-positive MTC.
View Article and Find Full Text PDFPurpose: Differences in syndromic manifestations of multiple endocrine neoplasia 2 A (MEN2A) between index and non-index patients are ill-defined.
Methods: Cross-sectional analysis of 602 REarranged during Transfection (RET) carriers (156 index and 446 non-index patients) who underwent thyroidectomy, adrenalectomy, and/or parathyroidectomy between 1985 and 2022, stratified by mutational risk.
Results: Index patients were 5.
Context: Early genetic association studies yielded too high risk estimates for multiple endocrine neoplasia (MEN2A), suggesting a need for extended surgery.
Objective: The objective was to delineate temporal changes in MEN2A presentation by birth cohort analyses.
Methods: Birth cohort analyses (10-year increments; ≤1950 to 2011-2020) of carriers of rearranged during transfection (RET) mutations who underwent surgery for MEN2A.
Purpose: Thirty years into the genomic era, this study sought to explore events that helped transform the clinical landscape of hereditary medullary thyroid cancer (MTC).
Method: This retrospective analysis of prospectively collected data included all RET carriers referred to a tertiary center for neck surgery that was performed between 1986 and 2021, using descriptive statistics and Poisson regression analysis.
Results: Altogether, 496 RET carriers were referred for thyroidectomy (388 carriers) or neck reoperation (108 carriers).
The increase in small intrathyroid papillary thyroid cancer (PTC) observed worldwide over the past two decades, with no increase in cancer-specific mortality, has challenged the previous concept of total thyroidectomy as a one-size-fits-all panacea. After exclusion of papillary microcarcinomas, a systematic review of 20 clinical studies published since 2002, which compared hemithyroidectomy (HT) to total thyroidectomy (TT), found comparable long-term oncological outcomes for low-risk papillary thyroid cancer (LRPTC) 1-4 cm in diameter, whereas postoperative complication rates were markedly lower for HT. To refine individual treatment plans, HT should be combined with ipsilateral central lymph node dissection and intraoperative frozen section analysis for staging.
View Article and Find Full Text PDFBackground: In medullary thyroid cancer (MTC), it is unclear which nodal classification system, metastatic lymph node ratio (MLNR), number of node metastases, or TNM/AJCC N classification, predicts cancer-specific survival best.
Methods: Kaplan-Maier analysis of cancer-specific survival after operation at a tertiary center.
Results: Included were 505 MTC patients.