Postoperative Outcomes of Familial Adrenal Pheochromocytoma1

ABSTRACT There are no current guidelines for the management of familial pheochromocytoma (FP). We tried to determine the optimal management of patients with FP. Among 191 patients with pheochromocytoma who underwent surgical resection between 1979 and 2010, there were 18 FP (13 different kindreds; 11 females/7 males; mean age at initial operation: 38.7 years). The 18 FP cases comprised 10 with MEN2A, 2 with MEN2B, 4 with von Hippel-Lindau disease, and 2 with FP only, and all pheochromocytomas were of adrenal origin. The number of probands and family members was 9 and 9 respectively. Mean tumor size was 6.4 cm in diameter. Simultaneous bilateral adrenalectomy was performed in 6 patients, and unilateral adrenalectomy was performed as the initial surgery in 12 patients. A metachronous contralateral adrenalectomy was performed in 3 patients, 90, 236 and 312 months after the primary operation, respectively. None of the patients received partial adrenalectomy. Among another 9 patients with unilateral adrenalectomy, contralateral pheochromocytomas were suspected in 4 cases at the initial operation. However, none of these contralateral lesions developed severe symptoms or tumor enlargement during a median follow-up of 116 months. In the remaining 5 patients, pheochromocytoma did not develop in the contralateral adrenals over a median follow-up of 80.5 months. Bilateral lesions of adrenal pheochromocytoma in familial cases occurred in 78% of cases (14/18); 9 patients (including 4 with contralateral pheochromocytoma) did not require a contralateral adrenalectomy during a median follow-up of 119 months. No patients have suffered from Addisonian crisis. The ipsilateral adrenalectomy and follow-up of contralateral small pheochromocytoma is one of the management options to preserve adrenocortical function in FP patients.

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Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

Case Reports in Medicine ◽

10.1155/2012/659104 ◽

2012 ◽

Vol 2012 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Tarık Esen ◽

Ömer Acar ◽

Ahmet Tefekli ◽

Ahmet Musaoğlu ◽

İzzet Rozanes ◽

...

Keyword(s):

Adrenal Cortex ◽

Adrenocortical Function ◽

Renal Masses ◽

Von Hippel Lindau ◽

Pancreatic Masses ◽

Adrenal Pheochromocytoma ◽

Von Hippel Lindau Disease ◽

Vhl Disease

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas.

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Diagnosis and Treatment of Adrenal Medullary Hyperplasia: Experience from 12 Cases

International Journal of Endocrinology ◽

10.1155/2014/752410 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 3

Author(s):

Lu Yang ◽

Liang Gao ◽

Xiao Lv ◽

Shengqiang Qian ◽

Siyuan Bu ◽

...

Keyword(s):

Left Kidney ◽

Complete Removal ◽

Spindle Cell Carcinoma ◽

Diagnosis And Treatment ◽

Partial Adrenalectomy ◽

Unilateral Adrenalectomy ◽

Adrenal Medullary Hyperplasia ◽

Satisfactory Outcome ◽

Effective Choice

Objective. To dissect the characteristics of adrenal medullary hyperplasia (AMH) and share our experience of diagnosis and treatment of AMH.Methods. From 1999 to 2013, 12 cases of AMH have been pathologically diagnosed after operation in our hospital. The clinical characteristics, process of diagnosis, treatment, and prognosis during follow-up of all patients are summarized retrospectively.Results. Four cases were trended to be AMH and 6 cases were trended to be pheochromocytoma before operation; moreover, the other two patients were diagnosed accidentally. All patients, except for the patient with mucinous tubular and spindle cell carcinoma of left kidney by open surgery, experienced a smooth laparoscopic adrenalectomy, including 2 with radical nephrectomy, 10 of which experienced unilateral adrenalectomy, 1 was bilaterally partial adrenalectomy, and the remaining one was unilaterally complete removal and then 2/3 partially contralateral excision. After a medium follow-up of 6.5 years, it demonstrated a satisfactory outcome of 8 cured patients and 4 symptomatic improved patients.Conclusions. AMH presents a mimicking morphology and clinical manifestation with pheochromocytoma. Surgery could be the only effective choice for the treatment of AMH and showed a preferable prognosis after a quite long follow-up.

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Concurrent Robotic Partial Adrenalectomy and Extra-Adrenal Pheochromocytoma Resection in a Pediatric Patient with Von Hippel-Lindau Disease

Journal of Endourology ◽

10.1089/end.2007.0314 ◽

2008 ◽

Vol 22 (7) ◽

pp. 1501-1504 ◽

Cited By ~ 29

Author(s):

Craig G. Rogers ◽

Adam M. Blatt ◽

George E. Miles ◽

W. Marston Linehan ◽

Peter A. Pinto

Keyword(s):

Pediatric Patient ◽

Partial Adrenalectomy ◽

Von Hippel Lindau ◽

Adrenal Pheochromocytoma ◽

Von Hippel Lindau Disease

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Pheochromocytoma in von Hippel-Lindau disease

Archive of oncology ◽

10.2298/aoo0304269p ◽

2003 ◽

Vol 11 (4) ◽

pp. 269-272

Author(s):

Milan Petakov ◽

Marina Djurovic ◽

Dragana Miljic ◽

Sandra Obradovic ◽

Mirjana Doknic ◽

...

Keyword(s):

Histopathological Examination ◽

Left Kidney ◽

The Body ◽

Single Strand Conformational Polymorphism ◽

Von Hippel Lindau ◽

Adrenal Pheochromocytoma ◽

Von Hippel Lindau Disease ◽

Pre Treatment ◽

The Right

A 70-year old female was admitted to the hospital because of hypertension increased sweating and weight loss. The hypertension was sustained. Five months before admission CT scan of the abdomen had revealed a well-defined right adrenal mass together with left kidney tumor. A magnetic resonance imaging of the abdomen confirmed the presence of the right adrenal and left kidney masses, but also showed another tumor in the pancreas between the body and the tail. Urinary 24-hour noradrenaline was grossly elevated and confirmed the diagnosis of pheochromocytoma. 131I-metaiodobenzylgvanidine (MIBG) scintiscan showed increased MIBG uptake in the right adrenal gland. After pre-treatment with phenoxybenzamine 30 mg daily, the patient was operated, and the right adrenalectomy was done. Histopathological examination revealed encapsulated adrenal pheochromocytoma without infiltrative characteristics and lymph node metastasis. After the operation hypertension was controlled easily with amlodipine. The patient was discharged for recovery. Ulteriorly, SSCP (single strand conformational polymorphism) method detected a point mutation in the third exon of the VHL (von Hippel-Linday) gene. It was decided to follow up the patient with the von Hippel-Lindau disease, while waiting for the results of the sequence analysis to confirm that the found mutation is not associated with renal cancer.

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Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-17-0014 ◽

2017 ◽

Vol 2017 ◽

Author(s):

Kohei Saitoh ◽

Takako Yonemoto ◽

Takeshi Usui ◽

Kazuhiro Takekoshi ◽

Makoto Suzuki ◽

...

Keyword(s):

Genetic Background ◽

Clinical Phenotype ◽

Germline Mutations ◽

List Type ◽

Unilateral Adrenalectomy ◽

Initial Surgery ◽

Familial Pheochromocytoma ◽

Rare Tumours ◽

Histopathologic Findings ◽

Learning Points

Summary Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, TMEM127 is one of the rare responsible genes for PCC/PGL. Here we report the case of a patient with familial PCC having a novel TMEM127 variant (c.119C > T, p.S40F). In silico prediction analysis to evaluate the functional significance of this variant suggested that it is a disease-causing variant. A PCC on the left side was considered to be the dominant lesion, and unilateral adrenalectomy was performed. The histopathologic findings were consistent with benign PCC. A loss of heterogeneity of the TMEM127 variant was detected in the surgically removed tumour. Learning points: c.119C > T (p.S40F) is a novel TMEM127 variant that can cause pheochromocytoma. The tumour showed loss of heterozygosity of this TMEM127 variant. The clinical phenotype of this mutation is putative bilateral pheochromocytoma in the 4th decade. Unilateral adrenalectomy may be performed as the initial surgery in such cases.

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A long-term survivor of metachronous liver metastases of pancreatic serous cystic neoplasm associated with von Hippel–Lindau disease

Surgical Case Reports ◽

10.1186/s40792-021-01239-y ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Takashi Kokumai ◽

Masamichi Mizuma ◽

Katsuya Hirose ◽

Hideaki Karasawa ◽

Masaharu Ishida ◽

...

Keyword(s):

Liver Metastases ◽

Surgical Resection ◽

Cystic Neoplasm ◽

Von Hippel Lindau ◽

Initial Surgery ◽

Contrast Enhanced ◽

Serous Cystic Neoplasm ◽

Von Hippel Lindau Disease

Abstract Background Pancreatic serous cystic neoplasm (SCN) is an uncommon exocrine neoplasm, which is believed to be a benign entity. However, some of these neoplasms may occasionally attain metastatic ability. Von Hippel–Lindau disease (VHL) manifests a dominantly inherited systemic syndrome accompanied by several benign or malignant tumors, including cystic tumors, in various organs. We describe here a long-term survival case who underwent surgical resection for metachronous liver metastases of pancreatic SCN associated with VHL disease. Case presentation A 35-year-old woman with VHL underwent total pancreatectomy and right nephrectomy for pancreatic SCN and renal cell carcinoma, respectively. At the 4th year follow-up examination after the resection, contrast-enhanced computed tomography (CT) and gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed arterially hyper-enhanced neoplastic lesions in the segment VI and VIII of the liver. Partial resections of the liver were performed 53 months after the initial surgery. At the 6th month follow-up examination from the second surgery, one and two tumors located in the liver segment III, and VIII, respectively, were detected by contrast-enhanced CT and Gd-EOB-DTPA-enhanced MRI. Anterior segmentectomy and partial resection of the segment III were performed 66 months after the initial surgery and 13 months after the second, respectively. The tumors were pathologically diagnosed as liver metastases of pancreatic SCN synonymous with serous cystadenocarcinoma. She remains disease-free without recurrence 6.5 years after the last operation. Conclusions This is the first report of a case of metastatic SCN associated with VHL. Surgical resection might confer a favorable prognosis in patients of pancreatic SCN with liver metastases.

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Incidence, Management and Outcome of Delayed Deep Surgical Site Infection Following Spinal Deformity Surgery: 20-Year Experience at a Single Institution

Global Spine Journal ◽

10.1177/2192568220978225 ◽

2020 ◽

pp. 219256822097822

Author(s):

Muyi Wang ◽

Liang Xu ◽

Bo Yang ◽

Changzhi Du ◽

Zezhang Zhu ◽

...

Keyword(s):

Surgical Site Infection ◽

Spinal Deformity ◽

Recurrent Infection ◽

Implant Removal ◽

Site Infection ◽

Initial Surgery ◽

Spinal Deformity Surgery ◽

Solid Fusion ◽

Deep Surgical Site Infection

Study Design: A retrospective study. Objectives: To investigate the incidence, management and outcome of delayed deep surgical site infection (SSI) after the spinal deformity surgery. Methods: This study reviewed 5044 consecutive patients who underwent spinal deformity corrective surgery and had been followed over 2 years. Delayed deep SSI were defined as infection involving fascia and muscle and occurring >3 months after the initial procedure. An attempt to retain the implant were initially made for all patients. If the infection failed to be eradicated, the implant removal should be put off until solid fusion was confirmed, usually more than 2 years after the initial surgery. Radiographic data at latest follow-up were compared versus that before implant removal. Results: With an average follow-up of 5.3 years, 56 (1.1%) patients were diagnosed as delayed deep SSI. Seven (12.5%) patients successfully retained instrumentation and there were no signs of recurrence during follow-up (average 3.4 years). The remaining patients, because of persistent or recurrent infection, underwent implant removal 2 years or beyond after the primary surgery, and solid fusion was detected in any case. However, at a minimum 1-year follow-up (average 3.9 years), an average loss of 9° in the thoracic curve and 8° in the thoracolumbar/lumbar curves was still observed. Conclusions: Delayed deep SSI was rare after spinal deformity surgery. To eradicate infection, complete removal of implant may be required in the majority of delayed SSI. Surgeons must be aware of high likelihood of deformity progression after implant removal, despite radiographic solid fusion.

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Plate Fixation for Irreducible Proximal Humeral Fractures in Children and Adolescents—A Single-Center Case Series of Six Patients

Children ◽

10.3390/children8080635 ◽

2021 ◽

Vol 8 (8) ◽

pp. 635

Author(s):

Florian Freislederer ◽

Susanne Bensler ◽

Thomas Specht ◽

Olaf Magerkurth ◽

Karim Eid

Keyword(s):

Closed Reduction ◽

Biceps Tendon ◽

Plate Fixation ◽

Proximal Humeral Fractures ◽

Humeral Fractures ◽

Constant Murley Score ◽

Fractures In Children ◽

Initial Surgery ◽

Conjoint Tendon

Background: Recommended treatment for severely displaced proximal humeral fractures in children is the closed reduction and percutaneous fixation by K-wires or intramedullary nailing. Methods: From January 2016 to January 2017 6, 21 children/adolescents (range 8 to 16 years) with proximal humeral fractures were treated surgically for severe displacement. In these six patients, several attempts of closed reduction were unsuccessful, and an open reduction was performed. The humeral head was fixed with a 3.5 mm T-plate without affecting the growth plate. Plate removal was performed at a mean interval of 132 days after initial surgery. Two years after initial surgery, the clinical outcome was assessed by the Constant–Murley score and QuickDASH score (including sport/music and work) and the shoulder joint was evaluated with a standardized sonographic examination for the rotator cuff and the conjoint tendon. Results: In all six patients, dorsal displacement of the fracture was irreducible due to the interposition of tendinous or osseous structures. Intraoperatively, the interposed structures were the long biceps tendon in two, periosteal tissue in two, a bony fragment in one, and the long biceps tendon together with the conjoint tendon in one case. At mean follow-up of 26 months (range 22 months to 29 months), patients showed very good clinical results with an excellent mean Constant–Murley score of 97.5 (range 91 to 100) and mean QuickDASH score (including sport/music and work) of 5.5 (range 0–20.8). An X-ray follow-up 6 weeks after surgery demonstrated early consolidation and correct alignment in all patients. A sonographic evaluation at 2 years post injury showed that the biceps and the conjoined tendon were intact in all patients. Conclusions: If a proximal humeral fracture is not reducible by closed means, a tissue entrapment (most likely biceps tendon) should be considered. Treatment with an open reduction and plate fixation yields very good clinical and radiological results and preserves interposed structures as the biceps and conjoint tendon.

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Inguinal Hernia Repair Using Self-adhering Sutureless Mesh: Adhesix™: A 3-Year Follow-up with Low Chronic Pain and Recurrence Rate

The American Surgeon ◽

10.1177/000313481608200212 ◽

2016 ◽

Vol 82 (2) ◽

pp. 112-116 ◽

Cited By ~ 3

Author(s):

Malek Tabbara ◽

Laurent Genser ◽

Manuela Bossi ◽

Maxime Barat ◽

Claude Polliand ◽

...

Keyword(s):

Chronic Pain ◽

Inguinal Hernia ◽

Postoperative Pain ◽

Postoperative Complications ◽

Hernia Repair ◽

Inguinal Hernia Repair ◽

Recurrence Rate ◽

Initial Surgery ◽

Complications Rate

To review our experience and outcomes after inguinal hernia repair using the lightweight self-adhering sutureless mesh “Adhesix™” and demonstrate the safety and efficacy of this mesh. This is a 3-year retrospective study that included 143 consecutive patients who underwent 149 inguinal hernia repairs at our department of surgery. All hernias were repaired using a modified Lichtenstein technique. Preoperative, perioperative, and postoperative data were prospectively collected. Incidence of chronic pain, postoperative complications, recurrence, and patient satisfaction were assessed three years postoperatively by conducting a telephone survey. We had 143 patients with a mean age of 58 years (17–84), who underwent 149 hernia repairs using the Adhesix™ mesh. Ninety-two per cent (131 patients) were males. Only 10 patients (7%) had a postoperative pain for more than three years. In our series, neither age nor gender was predictive of postoperative pain. Only one patient had a hematoma lasting for more than one month and only four patients (2.8%) had a recurrence of their hernia within three years of their initial surgery. Ninety per cent of the patient expressed their satisfaction when surveyed three years after their surgery. In conclusion, the use of the self-adhering sutureless mesh for inguinal hernia repair has been proving itself as effective as the traditional mesh. Adhesix™ is associated with low chronic pain rate, recurrence rate, and postoperative complications rate, and can be safely adopted as the sole technique for inguinal hernia repair.

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Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease

Journal of Neurosurgery ◽

10.3171/2015.4.jns1533 ◽

2016 ◽

Vol 124 (4) ◽

pp. 971-976 ◽

Cited By ~ 17

Author(s):

Kristin Huntoon ◽

Tianxia Wu ◽

J. Bradley Elder ◽

John A. Butman ◽

Emily Y. Chew ◽

...

Keyword(s):

Clinical Impact ◽

Anatomical Location ◽

Von Hippel Lindau ◽

Study Enrollment ◽

Common Location ◽

Younger Age ◽

The Mean ◽

A Prospective Study ◽

Vhl Disease

OBJECT Peritumoral cysts are frequently associated with CNS hemangioblastomas and often underlie neurological morbidity and mortality. To determine their natural history and clinical impact, the authors prospectively analyzed hemangioblastoma-associated peritumoral cysts in patients with von Hippel-Lindau (VHL) disease. METHODS Patients with VHL disease who had 2 or more years of follow-up and who were enrolled in a prospective study at the National Institutes of Health were included. Serial prospectively acquired laboratory, genetic, imaging, and clinical data were analyzed. RESULTS One hundred thirty-two patients (of 225 in the VHL study with at least 2 years of follow-up) had peritumoral cysts that were followed for more than 2 years (total of 292 CNS peritumoral cysts). The mean age at study entrance was 37.4 ± 13.1 years ([mean ± SD], median 37.9, range 12.3–65.1 years). The mean follow-up was 7.0 ± 1.7 years (median 7.3, range 2.1–9.0 years). Over the study period, 121 of the 292 peritumoral cysts (41.4%) became symptomatic. Development of new cysts was associated with a larger number cysts at study enrollment (p = 0.002) and younger age (p < 0.0001). Cyst growth rate was associated with anatomical location (cerebellum cysts grew faster than spine and brainstem cysts; p = 0.0002 and p = 0.0008), younger age (< 35 years of age; p = 0.0006), and development of new neurological symptoms (p < 0.0001). Cyst size at symptom production depended on anatomical location (p < 0.0001; largest to smallest were found, successively, in the cerebellum, spinal cord, and brainstem). The most common location for peritumoral cysts was the cerebellum (184 cysts [63%]; p < 0.0001). CONCLUSIONS Peritumoral cysts frequently underlie symptom formation that requires surgical intervention in patients with VHL disease. Development of new cysts was associated with a larger number of cysts at study enrollment and younger age. Total peritumoral cyst burden was associated with germline partial deletion of the VHL gene.

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