Prevalence and Clinical Spectrum of Nonsecretory Medullary Thyroid Carcinoma in a Series of 839 Patients with Sporadic Medullary Thyroid Carcinoma

Frank‐Raue, Karin; Machens, Andreas; Leidig-Bruckner, G.; Rondot, Susanne; Haag, Christine; Schulze, Egbert; Lorenz, Angela; Kreißl, Michael C.; Dralle, Henning; Raue, Friedhelm; Schmid, Kurt Werner

doi:10.1089/thy.2012.0236

Cited by 91 publications

(68 citation statements)

References 31 publications

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“…Two volunteers diagnosed with breast cancer had different allele associations in BRCA2 (43,44). Single cases of early onset prostate (LRP2) (45) and follicular thyroid cancer (TPR) cancer were identified (46,47). A volunteer with nonsyndromic deafness was found to have risk alleles in two genes associated with autosomal dominant (AD) deafness and had a three-generation positive family history of deafness (48).…”

Section: Significancementioning

confidence: 99%

Personalized genomic disease risk of volunteers

Gonzalez-Garay

McGuire

Pereira

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

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Significance Replacing traditional methods for genetic testing of inheritable disorders with next-generation sequencing (NGS) will reduce the cost of genetic testing and increase the information available for the patients. NGS will become an invaluable resource for the patient and physicians, especially if the sequencing information is stored properly and reanalyzed as bioinformatics tools and annotations improve. NGS is still at the early stages of development, and it is full of false-positive and -negative results and requires infrastructure and specialized personnel to properly analyze the results. This paper will explain our experience with an adult population, our bioinformatics analysis, and our clinical decisions to assure that our genetic diagnostics were accurate to detect carrier status and serious medical conditions in our volunteers.

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Section: Significancementioning

confidence: 99%

Personalized genomic disease risk of volunteers

Gonzalez-Garay

McGuire

Pereira

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

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“…Also, the Diff‐Quik stained smear can be destained and restained with Congo red with characteristic orange‐red coloration . Nonsecretory medullary thyroid carcinoma with normal calcitonin and CEA levels is rare with a prevalence rate of 0.83% reported by Frank‐Raue et al However, in these nonsecretory medullary thyroid carcinomas, immunohistochemical stains for calcitonin and CEA are positive, confirming the diagnosis . Due to incorrect localization of the mass in the head and neck region, the cytopathologist may be biased and misinterpret the morphologic findings.…”

Section: Discussionmentioning

confidence: 99%

Laryngeal chondrosarcoma mimicking medullary thyroid carcinoma on fine‐needle aspiration cytology: A case report of a diagnostic pitfall

Vahidi

Amin

Stewart

2017

Diagnostic Cytopathology

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Chondrosarcoma (CS) of larynx is a rare laryngeal tumor accounting about 1% of laryngeal malignancies. When CS arises from thyroid cartilage, it may clinically present as a thyroid nodule. Here we report a rare case of CS of thyroid cartilage misinterpreted as medullary thyroid carcinoma. The main aim of this case report is to emphasize the important role of accurate clinical history, appropriate physical examination, and proper localization of the tumor and clear definitive imaging in conjunction with interpretation of cytologic smears. When any of these roles are unclear, it may result in misinterpretation of the cytologic smears. In these unusual circumstances, when cytomorphologic features does not completely fit an entity, communication with the physician and the consideration of a broad differential diagnoses in the head and neck pathology may lead to correct diagnosis and avoid diagnostic pitfalls. Also in certain conditions, ancillary studies including laboratory tests are necessary for definitive classification.

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“…Leicht erhöhte Ctn-Spiegel findet man bei einer C-Zell-Hyperplasie, die eine Vorstufe eines hereditären MTC sein kann, aber auch als "benignes" Begleitphänomen bei anderen Schilddrüsenerkrankungen beobachtet wird [4]. Selten findet sich ein MTC ohne Ctn-Expression und Sekretion von Ctn [5].…”

Section: Calcitoninder Tumormarker Des Mtcunclassified

Das medulläre Schilddrüsenkarzinom und die multiple endokrine Neoplasie Typ 2

Raue¹,

Frank‐Raue²

2020

Dtsch Med Wochenschr

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AbstractMedullary thyroid carcinoma (MTC) is a rare malignancy and compromises only 3 % of all thyroid carcinomas. MTC cells secret calcitonin, which serves as a sensitive tumor marker for screening and follow-up of MTC. Calcitonin screening in patients with nodular goiter allows for early diagnosis of MTC and surgical curative treatment. In 25 % of patients MTC occurs as an integral part of multiple endocrine neoplasia type 2 (MEN2), an autosomal dominant inherited tumor syndrome. It is caused by germline mutations in the RET protooncogene. In gene carriers early diagnosis and treatment through prophylactic thyroidectomy is possible. MTC is a slowly growing tumor with a good prognosis and 5 and 10 year survival rates up to 80 and 60 %. In the follow-up a dynamic risk stratification allows for a personalized disease management. In symptomatic and progressive metastasizing MTC tyrosine kinase inhibitors are an effective therapy.

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Prevalence and Clinical Spectrum of Nonsecretory Medullary Thyroid Carcinoma in a Series of 839 Patients with Sporadic Medullary Thyroid Carcinoma

Cited by 91 publications

References 31 publications

Personalized genomic disease risk of volunteers

Personalized genomic disease risk of volunteers

Laryngeal chondrosarcoma mimicking medullary thyroid carcinoma on fine‐needle aspiration cytology: A case report of a diagnostic pitfall

Das medulläre Schilddrüsenkarzinom und die multiple endokrine Neoplasie Typ 2

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