Laparoscopic adrenalectomy of a large pheochromocytoma in a multiple endocrine neoplasia-2A patients with renal agenesis carcinoma, pheochromocytoma, and parathyroid hyperplasia. We report an unusual case of a patient who was associated with renal agenesis. Only two cases(a mother and her son)of one report were found in the literature.
1. We report a case of a 3 8-year—old woman with a sudden general fatigue and palpitation Her blood pressure was 200/1 00 mmHg. Remarkably increased levels of noradrenaline and its metabolite were found in blood and urine samples.CT demonstrated left renal agenesis(2 cn'lx 1 cm;Figure 1)and a left adrenal tumor f8 cm×8 cm).which showed abnormal accumulation on“1I-metaiodobenzyl guanidine(MIBG)scintigraphy.These data clearly suggested pheochromocytoma in the left adrenal gland.M?revealed multiple tumors on the right and left side of the thyroid.Fine needle aspiration from all the nodules was suggestive of medullary thyroid carcinoma.
The patient underwent laparoscopic adrenalectomy.The systolic blood pressure(SBP)ranged from 80 to 230 mmHg.The operating time was 1 30 minutes.and blood lOSS was 50 m1.The tUlllOr had a well—defined capsule.Histopathol02ic examination demonstrated a pheochromocytoma.One month later,the patient was referred to the Department of General Surgery in our hospital for total thyroidectomy and subtotal parathyroidectomy.Histopath0109ic examination demonstrated a medullary thyroid carcinoma and parathyroid hyperplasia. Medullary cancer metastases were found in one of six lymph nodes.
Genetic analysis showed that the mutation observed in the patient atcodon 634(exon 1 1)is TGC—CGC, resulting in the substitution of arginine for cysteine. We screened three family members(her son, daughter and elder sister)for the same mutation. Thyroidectomy for medullary thyroid carcinoma 8 years ago.DNA sequencing is certainly the gold-standard method for RET mutation analysis.After finding RET mutation at codon 634(exon 1 1)in the patient,molecular DNA diagnosis wad used on her son,daughter, and elder sister.The same RET mutation was proved by genetic sequencing.
MEN2 with renal malformations was rare. RET mutations is not only associated with multiple endocrine neoplasia(MEN) 2. A syndrome, but also is involved in the development of renal organogenesis during the embryonic life.3. Gene targeting studies revealed that mutations in RET contribute significantly to abnormal kidney development. 4. The left kidney of the patient was too small to find by echocardiograohy. An enhancing CT disclosed a shrunken kidney.
Pheochromocytomas may be some of the more challenging adrenal tumors to be approached laparoscopically.’The safety and efficacy of laparoscopic adrenalectomy for pheochromocytomas greater than 6 cm in diameter has remained controversial.However, some urologists believed that laparoscopic adrenalectomy is a safe and effective treatment for large pheochromocytomas.As for the patient even though there were fluctuations in blood pressure during surgery, it was well controlled throughout the procedure.
WANG Hai—dong,LI Gui—zhong,WANG Jian—wei,LIU Ning,HE Feng and MAN
Department of Urology,Beijing Jishuitan Hospital,Beijing 100035,China(Wang
HD,LiGZ,Wang JW,LiuN,HeF andManLB)
Correspondence to:Dr.MAN Li·bo,Department of Urology,Beijing Jishuitan
Hospital,Beijing 100035,China(Tel:86-010-58516241 Email:doctor[email protected])
MEN 2A is an autosomal dominant cancer syndrome.RET proto?
oncogene codes for a transmembrane receptor that has tyrosine
kinase activity and is located on chromosome 1 0a 11.2.T11e mutations
affect cysteine residues in the extracellular domain ofthe protein.The 2
most commonly affected cysteine is C634.2 This woman’s elder sister
underwent open adrenalectomy for pheochromocytoma and total
Figure 1.Abdominal CT shows
left renal agenesis(arrow)and left
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(ReceivedJanuary 7.201 3)
Edited by SUN,^ng