We present a unique case of a 45-year-old woman with Carney-Stratakis syndrome who initially presented with a palpable left neck mass. [jhu.pure.elsevier.com]

These present earlier, the mean age at diagnosis being 23 years, and are more likely to be multifocal. [imedpub.com]

presentation with the nephrotic syndrome. [journals.lww.com]

At age 32 he presented with metastatic paraganglioma. [nature.com]

• Fever

  Rarely, patients may present with catecholaminergic ‘crisis’ accompanied by acute cardiomyopathy and severe hypertension and sometimes even with multi-organ failure, such as lactic acidosis, encephalopathy, fever and hyperglycemia. [centogene.com]

  Presentation [ edit ] The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva and oral mucosa. [3] Cardiac myxomas may lead to embolic strokes and heart failure [4] and may present with fever [en.wikipedia.org]

• Fishing

  CGH, fluorescent in situ hybridization (FISH) and loss-of-heterozygosity (LOH) studies Tumours that showed losses of 1q region by CGH (samples CTRS9, CTRS5T, CTRS6, CTRS7, CTRS10, CTRS13, CTRS19, CTRS21 and CTRS36) were subjected to interphase FISH, using [ncbi.nlm.nih.gov]

  Markie D, Huson S, Maher E, Davies A, Tomlison I, Bodmer WF: A pericentric inversion of chromosome 6 in a patient with Peutz-Jeghers syndrome and the use of FISH to localize the breakpoints on a genetic map. Hum Genet 1996;98:125–128. [karger.com]

  Bodmer: A pericentric inversion of chromosome 6 in a patient with Peutz-Jeghers syndrome and the use of FISH to localize the breakpoints on a genetic map. Hum Genet 98, 125-128 (1996) 103. [bioscience.org]

• Hyperpigmentation

  Carney complex and its subsets LAMB syndrome [1] and NAME syndrome [1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin ( lentiginosis ), and endocrine overactivity. [2] [3] It is distinct from [en.wikipedia.org]

  Carney complex Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. [howlingpixel.com]

• Ulcer

  Given ulceration, surgical resection was planned. [ncbi.nlm.nih.gov]

  In the triad, most of the GSSs came to attention because of mucosal ulceration caused by the tumors. The ulceration resulted in bleeding with consequent anemia, melena, hematemesis, and combinations of these. [academic.oup.com]

  The tumor(s) cause mucosal ulceration and gastric bleeding that results in iron-deficiency anemia, and melena or hematemesis or both. [atlasgeneticsoncology.org]

  Side effects of imatinib can include: Tiredness Feeling sick Diarrhoea Swollen ankles Puffy eyes Itchy rash Side effects of sunitinib can include: Skin rash and soreness Tiredness Mouth ulcers High blood pressure Side effects of regorafenib can include [sarcoma.org.uk]

  These tumors present usually irregular, lobulated and ulcerated (Durham et al. 2004 ). [springerplus.springeropen.com]

• Urticaria

  A skin condition called urticaria pigmentosa, which results in raised patches of brownish skin that sting or itch. This condition may also increase the risk of skin infections in some people. [cancer.net]

  The phenotypic syndrome varies considerably, and may include -in addition to multiple, generally benign GISTs appearing in middle age- hyperpigmentation, urticaria pigmentosa and dysphagia (32,33). [scielo.isciii.es]

  23 Other abnormalities may be present in patients with familial GISTs: for example, patients with germline KIT exon 11 mutations often show cutaneous hyperpigmentation in the perineum, face, neck, digits, axillae, groin and knees and less frequently urticaria [nature.com]

• Suggestibility

  However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other molecular mechanisms may be implicated in GIST pathogenesis. [ncbi.nlm.nih.gov]

  It is now clear that with PED WT GIST, some are caused by derangements of this pathway suggesting a common biology between PED GIST and RCC suggesting the possibility that maybe everything we’ve learned about RCC in terms of therapeutics might be applicable [gistsupport.medshelf.org]

  Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but the underlying genetic basis has not been identified.[1] In addition to these three classical tumors, there is an increased [en.wikipedia.org]

  Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but the underlying genetic basis has not been identified. [1] In addition to these three classical tumors, there is an increased [howlingpixel.com]

  Summary Is a 11 gene panel that includes assessment of non-coding variants Is ideal for patients with a personal history suggestive of an inherited susceptibility to paragangliomas and/or pheochromocytomas or patients with a family history suggestive [blueprintgenetics.com]

• Neck Mass

  We present a unique case of a 45-year-old woman with Carney-Stratakis syndrome who initially presented with a palpable left neck mass. [jhu.pure.elsevier.com]

  BACKGROUND: A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. [ncbi.nlm.nih.gov]

  A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. [go.gale.com]

Further workup demonstrated 2 paragangliomas in the neck and multiple SDHB deficient gastrointestinal stromal tumors of the stomach. We describe the imaging findings and clinical course of this rare syndrome. [jhu.pure.elsevier.com]

Review of growth curves in the pre-ceding years is a crucial step in the workup of CS. [dokument.tips]

• Chest X-Ray Normal

  Table 1 Patients with the triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma (Carney triad) Patient Id Sex Age Tumours Other Reference CTRS2 1 F 15 GIST, PGL Chest X-ray normal; metastatic GIST; multiple PGLs [ncbi.nlm.nih.gov]

It is an effective targeted treatment, with one study estimating that patients with metastatic KIT- or PDGFRA-mutated GIST who received treatment with imatinib mesylate had a 2-year survival rate of 80% [12]. [imedpub.com]

Treatment of GIST and the paragangliomas: surgical resection, embolization, sometimes radiotherapy. Adjuvant medical treatment by imatinib mesylate is being evaluated. Anesthetic implications: check for anemia; RX thorax to find a paraganglioma. [sites.uclouvain.be]

Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.com]

Management and treatment Treatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST. [orpha.net]

Side effects of treatment You may experience side effects from your treatment. [sarcoma.org.uk]

To present the pathologist with current clinical information on diagnosis, differential diagnosis, staging, and prognosis of thyroid cancers, topics presented are: Poorly differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for [books.google.com]

The book explores the molecular genetics, diagnosis, prognosis and therapy of the atypical teratoid/rhabdoid tumor (AT/RT). [books.google.es]

August 7, 2018 July 12, 2018 RESOURCES CSUK Cancer Assessment, Cancer Care, Cancer Check-up, Cancer Check-ups, Cancer Prognosis, Cancer Screening, Cancer Treatment, Cancer Types, Carney–Stratakis Syndrome, Paragangliomas Tumours, Stromal Tumours [cancerscreeninguk.com]

[…] chondroma), familial GIST syndrome, Carney-Stratakis syndrome ( Am J Med Genet 2002;108:132 ) Sites: stomach (60%), jejunum and ileum (30%), duodenum (5%), colorectum (5%), rarely esophagus, appendix, retroperitoneum, abdomen (extra GI stromal tumors) Prognosis [pathologyoutlines.com]

Human Genetics DOI: 10.1038/ejhg.2015.142 Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas, is a sporadic condition that is significantly more frequent in females; its genetic etiology [pdfs.semanticscholar.org]

Etiology The vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. [orpha.net]

Our expectation was the GIST was an SDH-mutant sharing the underlying etiology with the paraganglioma as described by Carney-Stratakis Syndrome. [imedpub.com]

Aggressive Behavior: The First Case in Korea}, author={Hye Jong Song and Kyoung-Mee Kim and Dong Il Choi and Cheol Keun Park}, journal={Yonsei Medical Journal}, year={2009}, volume={50}, pages={709 - 712} } Carney triad is a rare syndrome of unknown etiology [semanticscholar.org]

[…] pulmonary chondroma non-functioning or low-secreting adrenocortical adenoma ( 23681078 ) Differential diagnosis familial paraganglioma and gastric stromal sarcoma association ( 11857563, 15383933 ) CGH 1q12-q21 deletion candidate gene: SDHC loss of 1p Etiology [humpath.com]

[…] data: Class of prevalence: Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type [csbg.cnb.csic.es]

Rare (previously described in < than 20 unrelated families), familial, autosomal dominant inherited syndrome with polytopic gastrointestinal stromal tumors (GIST) and paragangliomas (Khurana A et al. 2019) Occurrence/Epidemiology This section has been [altmeyers.org]

Summary Epidemiology It is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients. [orpha.net]

Terminology Carney complex appears to be preferred over Carney syndrome Epidemiology Incidence of 70 cases per 100,000 individuals Usually white, no gender preference Mean age at diagnosis is 10 - 20 years ( eMedicine: Carney Complex ) Clinical features [pathologyoutlines.com]

“Further investigation is necessary to link the histologically confirmed, epidemiological findings from this and other population-based studies with relevant clinical decision making,” Sicklick and colleagues concluded. [healio.com]

Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology. [karger.com]

Cushing's 1932 description 1 of the syndrome that results from long-term exposure to glucocorticoids has not been improved upon, but our understanding of its pathophysiologic features and our ability to diagnose and treat the disorder have increased dramatically.Normal [nejm.org]

Export citation Add to favorites Track citation Summary This chapter contains sections titled: Lentigo Simplex Lentigo Senilis et Actinicus Centrofacial Lentiginosis LEOPARD Syndrome Carney Complex Other Lentiginoses The Pigmentary System: Physiology and Pathophysiology [onlinelibrary.wiley.com]

(See Pathophysiology and Etiology.) [emedicine.medscape.com]

All chapters follow a consistent template including the following features: - An opening bottom-line/key points section - Classification, pathogenesis and prevention of disease - Evidence-based diagnosis, including relevant algorithms, laboratory and [books.google.com]

Your personal message: CAPTCHA This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. [casereports.bmj.com]

And if it’s early enough, prevent them. Whether it’s through the most-advanced technology, like brain imaging, or the most-foundational health habits, like rest and exercise, no matter your age, stage, or issue, there’s always hope here. [floridahospital.com]

Gareth Baynam, Linda Watson, Alison Rowley The Western Australian Register of Developmental Anomalies monitors congenital anomalies (birth defects) and cerebral palsy in WA assists healthcare planning, guides research and helps to investigate causes, prevention [rarevoices.org.au]