Adrenal pheochromocytoma in a patient with Lynch Syndrome

Rodríguez, Katherine; Harris, Kelly T.; Singla, Nirmish

doi:10.1016/j.eucr.2022.102015

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…In this cohort, one patient presented with Lynch syndrome, which is a non-classic association with only a few cases reported in the literature [31,32]. This suggests that more studies should be done in order to understand the association between these two tumors.…”

Section: Discussionmentioning

confidence: 85%

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

Carvalho,

Machado,

Morais

et al. 2024

Preprint

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Purpose Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of pheochromocytoma in a referral center, with an emphasis on the minimally invasive adrenalectomy, which is the preferred therapeutic approach. Methods A retrospective analysis was performed on a cohort of patients diagnosed with pheochromocytoma who underwent adrenalectomy between January 2013 and December 2022. Clinical data including demographics, timelines, symptomatology, comorbidities, biochemical markers, genetic testing, surgical details, and follow-up outcomes, were collected and analyzed. Results The cohort included 44 patients, predominantly women (52,27%), with a median age of 53,39 years (range 13–83). Most of patients exhibited paroxysmal symptoms suggesting catecholamine excess. Documented hypertension was the most frequent (86,36%), along with glucose anomalies (40,01%) and anxiety disorder (31,82%). Genetic testing was performed in 36 (81,81%) patients and 14 (38,88%) revealed a positive result, predominantly RET pathogenic variant. Laparoscopic surgery was performed in 34 (79,07%) patients, showing significantly shorter operative time (2,5 hours vs. 4,25 hours, t-test p < 0,001) and fewer complications (23,53% vs 77,78%, p = 0,008). Postoperative complications occurred in 36,36% of the patients, mostly mild (grade I, 56,25%), with no mortality. SDHB pathogenic variant correlated with both recurrent and metastatic disease (p = 0.006). One-year follow-up reported 9.09% recurrence and 6.82% metastasis. Conclusions Adrenalectomy demonstrated a high safety and effectiveness. This study exhibited a higher rate of genetic testing referral than other studies. Despite past advances, there is still a need for further studies to establish protocols and evaluate new techniques.

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Section: Discussionmentioning

confidence: 85%

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

Carvalho,

Machado,

Morais

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Unlike the more common and higher-risk genetic mutations in MLH1 and MSH2 , PMS2 has a 3 to 5 times increase in colon and endometrial cancers in people older than 60 years compared to the general population, respectively ( 26 ). In terms of PCCs/PGLs, there have been few reported cases in LS ( 9-13 ). While these mutations of mismatch repair genes can increase the frequency of PCCs/PGLs, it is hard to say whether they have directly contributed or are a coincidence.…”

Section: Discussionmentioning

confidence: 99%

“…It is caused by germline mutations in the mismatch repair genes of MLH1 , MSH2 , MSH6 , PMS2 , and rarely EPCAM , increasing risks for malignancies such as gastrointestinal, genitourinary, brain, and skin ( 8 ). There are very few reported cases of LS presenting with PCCs in the adrenal gland and a case of PGL of the retroperitoneuml ( 9-13 ) (abstract). We present a pregnant patient who has the increased risks of PCCs/PGLs associated with genetic mutations of VHL and LS and discuss the proper management and follow-up plan.…”

Section: Introductionmentioning

confidence: 99%

An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy

Tang,

Meng

2024

JCEM Case Reports

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Pheochromocytomas (PCCs) and/or paragangliomas (PGLs) are a challenge to diagnose during pregnancy because of elusive signs and testing difficulties. We report a 25-year-old woman with no pertinent medical history who presented to the hospital with hypertension, vision loss, and weakness and was initially diagnosed with preeclampsia. Imaging showed hemangioblastomas in the medulla and thoracic spine, pancreatic cysts, and a renal cyst. The endocrinology service was consulted for possible PCCs associated with von Hippel-Lindau disease (VHL). Serum and urine normetanephrine levels were elevated despite the lack of overt PCCs/PGLs seen on magnetic resonance imaging and magnetic resonance angiography. The patient was medically managed with doxazosin and then labetalol. Despite successful resection of the hemangioblastoma in the medulla, the patient suffered respiratory distress requiring tracheostomy and venous-venous extracorporeal membrane oxygenation (V-V ECMO) and fetal demise. After 3 months, the patient was discharged to rehabilitation. Follow-up genetics were heterozygous for VHL and Lynch syndrome. DOTATATE positron emission tomography/computed tomography scan showed a small hepatic focus of a maximum standard uptake value of 12.1. Altogether, this case illustrates the importance of prompt diagnosis and proper management of PCCs/PGLs during pregnancy and incorporating genetic information during surveillance to lower morbidity and mortality.

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The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

Carvalho,

Machado,

Morais

et al. 2024

Endocrine

View full text Add to dashboard Cite

Purpose Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of pheochromocytoma in a referral center, with an emphasis on the minimally invasive adrenalectomy, which is the preferred therapeutic approach. Methods A retrospective analysis was performed on a cohort of patients diagnosed with pheochromocytoma who underwent adrenalectomy between January 2013 and December 2022. Clinical data including demographics, timelines, symptomatology, comorbidities, biochemical markers, genetic testing, surgical details, and follow-up outcomes, were collected and analyzed. Results The cohort included 44 patients, predominantly women (52.27%), with a median age of 53.39 years (range 13–83). Most of patients exhibited paroxysmal symptoms suggesting catecholamine excess. Documented hypertension was the most frequent (86.36%), along with glucose anomalies (40.01%) and anxiety disorder (31.82%). Genetic testing was performed in 36 (81.81%) patients and 14 (38.88%) revealed a positive result, predominantly RET pathogenic variant. Laparoscopic surgery was performed in 34 (79.07%) patients, showing significantly shorter operative time (2.5 h vs. 4.25 h, t-test p < 0,001) and fewer complications (23.53% vs 77.78%, p = 0.008). Postoperative complications occurred in 36.36% of the patients, mostly mild (grade I, 56.25%), with no mortality. SDHB pathogenic variant correlated with both recurrent and metastatic disease (p = 0.006). One-year follow-up reported 9.09% recurrence and 6.82% metastasis. Conclusions Adrenalectomy demonstrated a high safety and effectiveness. This study exhibited a higher rate of genetic testing referral than other studies. Despite past advances, there is still a need for further studies to establish protocols and evaluate new techniques.

show abstract

Adrenal pheochromocytoma in a patient with Lynch Syndrome

Cited by 4 publications

References 6 publications

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

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