The Characterization of Pheochromocytoma and Its Impact on Overall Survival in Multiple Endocrine Neoplasia Type 2

Thosani, Sonali; Ayala-Ramirez, Montserrat; Palmer, Lynn; Hu, Mimi I.; Rich, Thereasa A.; Gagel, Robert F.; Cote, Gilbert J.; Waguespack, Steven G.; Habra, Mouhammed Amir; Jiménez, Camilo

doi:10.1210/jc.2013-1653

Cited by 97 publications

(56 citation statements)

References 22 publications

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“…Most cases of the MEN2 varieties are thought to arise from a change in the RET proto-oncogene that occurs in the cells of neural crest origin. This, in turn, strongly predisposes the patient to gain-of-function tumors with common co-presentations of hyperparathyroidism from medullary thyroid carcinoma, sympathetic nervous system hyperactivity from pheochromocytoma, and marfanoid habitus from pituitary adenoma [25]. While the oral neurofibromas of the 2B subset may superficially resemble the presentation of the current case, a large physical stature and body weight is unlikely in the backdrop of pheochromocytoma and hyperparathyroidism.…”

Section: Discussionmentioning

confidence: 68%

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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reported first noticing these lesions approximately 10 years prior. She also denied any history of oral surgery, facial trauma, and alcohol, tobacco, or recreational drug use. The patient's past medical history was significant for left and right mastectomy for bilateral ductal carcinoma and partial thyroidectomy for microcarcinoma. She received blood transfusions at multiple points during her surgical journey but her current medical regimen included only levothyroxine. Clinical FindingsIntraoral examination (Fig. 1) revealed generalized multiple white-pink round/oval papules on the patient's lips. She was noted to have a distinct 6 mm × 5 mm × 3 mm papillary lesion on the facial gingiva between teeth #25 and 26 with smaller lesions extending slightly inferiorly to the distal of teeth #27 and 28. Similar small patches of lesions were noted on her contralateral mandibular quadrant. Also noted was a 7 mm × 3 mm white lesion on her right buccal mucosa just superior to the occlusal plane on the distobuccal cusp of tooth #31. In addition, pink papillary growths were found on the palatal gingiva of teeth #1, 2, 3, 6, 7, 9, 10, and 11 (Fig. 2) along with a similar but white papillary lesion on the attached buccal gingiva of tooth #15 measuring 5 mm × 5 mm × 5 mm. Another 3 mm × 7 mm papillary cluster was noted on the lingual mandibular gingiva near teeth #21 and 22. White gingival tissue was noted on the crest of her #14 edentulous ridge site (Fig. 3). None of these lesions were removable with gauze. The tongue was otherwise normal, as was the floor of her mouth. Radiographic imaging of the maxillomandibular region was otherwise unremarkable.Abstract A case of Cowden syndrome (CS) is described in a 34-year-old African American female who reported a history of breast and thyroid malignancies. Clinical examination demonstrated multiple soft, white-pink papules across multiple mucosal surfaces of the oral cavity. Microscopy of the lesions revealed hyperkeratotic surface squamous epithelium with papillomatosis and acanthosis along with elongated rete processes. A genomic polymerase chain reaction direct sequencing using the patient's blood was positive for mutations of the PTEN gene typical of CS.

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Section: Discussionmentioning

confidence: 68%

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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“…The largest dedicated study on MEN2B pheochromocytoma was based on 15 patients. The median age at pheochromocytoma diagnosis was 25 years (18-40) compared to 34 years (17-60) in the 70 patients with MEN2A (P < 0.05) (Thosani et al 2013). At diagnosis, the median size of pheochromocytoma in the MEN2B patients was smaller than that for patients with MEN2A (25 vs 38 mm) (P < 0.01), but this could be due to stricter surveillance in patients with MEN2B, thus leading to an earlier diagnosis in asymptomatic patients.…”

Section: Pheochromocytoma In M918t-mutated Men2bmentioning

confidence: 88%

“…It is usually the first disease to be diagnosed, and the average age of diagnosis of MTC is in the second decade of life, about 10 years earlier than that seen in individuals with MEN2A (O'Riordain et al 1994, Brandi et al 2001. The size of the tumor at diagnosis is not significantly different between MEN2A and MEN2B (Thosani et al 2013). Compared with sporadic MTC, MEN2B-associated MTC is usually multifocal, bilateral and accompanied by C-cell hyperplasia, the initial step of tumorigenesis in a well-defined oncologic cascade similar to MEN2A (Fig.…”

Section: Medullary Thyroid Carcinoma In M918t-mutated Men2bmentioning

confidence: 95%

A comprehensive review on MEN2B

Castinetti¹,

Moley²,

Mulligan³

et al. 2018

Endocrine-Related Cancer

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MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling. Only few data are available in the literature. The aim of this review is to try to give further insights into the natural history of the disease and to point out the missing evidence that would help clinicians optimize the management of such patients. MEN2B is mainly characterized by the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes. Future large-scale studies will be aimed at characterizing more in detail the main characteristics and outcomes of MEN2B.

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“…Germline RET mutations are present in virtually all patients with MEN2A, with close to 100% penetrance for MTC but at a lower frequency for the expression of pheochromocytoma (about 50%) and PHPT (∼20%) [41,42]. In MEN2A, parathyroid tumors are typically benign and result in PHPT, while pheochromocytoma has low malignant potential and is not associated with shortened survival [43].…”

Section: Men2a and Mtcmentioning

confidence: 99%

Recent Advances in the Management of Endocrine Malignancies Associated with Hereditary Hyperparathyroidism Syndromes

Li¹,

Simonds

2017

Int. J. Endo. Oncol.

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Hereditary hyperparathyroidism syndromes, such as multiple endocrine neoplasm type 1, type 2A and the hyperparathyroidism-jaw tumor syndrome, are associated with an increased incidence of malignancies involving the neuroendocrine tissue of the pancreas and thymus, parathyroid and thyroid glands. The natural history of these endocrine tumors can differ from nonhereditary malignancies. The surgical approach, the only potentially curative treatment option for these endocrine malignancies, has evolved considerably in recent years. Newer targeted therapies, such as small molecule kinase inhibitors, somatostatin analogs and peptide receptor radionuclide therapy, are being developed. We provide here a comprehensive review of the current standards of treatment and emerging novel therapies for the endocrine malignancies commonly associated with hereditary hyperparathyroidism syndromes.

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The Characterization of Pheochromocytoma and Its Impact on Overall Survival in Multiple Endocrine Neoplasia Type 2

Abstract: PHEO in MEN2 patients are usually bilateral and unlikely to be metastatic. Subgroup analysis of patients with RET 634 mutations with and without PHEO showed that PHEO was not associated with a more advanced stage of MTC at diagnosis or a shorter survival.

Cited by 97 publications

References 22 publications

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

A comprehensive review on MEN2B

Recent Advances in the Management of Endocrine Malignancies Associated with Hereditary Hyperparathyroidism Syndromes

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