Annals of medicine and surgery (2012) · 2026
Medullary thyroid carcinoma with pheochromocytoma and cystic parathyroid degeneration in a ret-negative patient: a case report.
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El Khatib Ahmad, Semaan Zeina Maria, El Haress Mohamad, Nehme Elie, Assaf Nada, Saleh Monzer, Shabb Nina, Chokr Jad, Shebly Anthony, Salloum Hind, El Lakis Mustapha
Аннотация
INTRODUCTION: Multiple endocrine neoplasia type 2A (MEN2A) is a rare autosomal dominant hereditary cancer syndrome, predominantly caused by mutations of the RET proto-oncogene on chromosome 10q11.2. It typically presents with medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism. Cases with a MEN2A phenotype but negative RET testing are uncommon, posing challenges for diagnosis and patient management.
CASE PRESENTATION: We report the case of a 63-year-old female who was diagnosed with MTC and pheochromocytoma. and cystic parathyroid gland. Genetic workup was negative for RET proto-oncogene mutations but positive for a heterozygous variant in the TMEM127 tumor suppressor gene.
CASE DISCUSSION: MEN2A is associated with pathogenic germline variants in the RET proto-oncogene in approximately 95-99% of cases. Our patient, however, exhibited a MEN2A-like clinical phenotype in the absence of an identifiable RET mutation, with a pathogenic TMEM127 variant instead. Although TMEM127 is an established susceptibility gene for pheochromocytoma and paraganglioma, its association with the broader MEN2A phenotype remains unclear. This unusual genotype-phenotype discordance raises important questions regarding the potential role of alternative genetic pathways in MEN2-like syndromes and creates uncertainty regarding postoperative surveillance and the appropriate extent of screening and genetic counseling for family members.
CONCLUSION: Our case represents an unusual scenario where the patient presents with a clinical phenotype of MEN2A but is RET negative and positive heterozygous for a variant in the TMEM127. This atypical genetic finding introduces complexities in determining the appropriate follow-up protocol and the scope of familial screening necessary.
CASE PRESENTATION: We report the case of a 63-year-old female who was diagnosed with MTC and pheochromocytoma. and cystic parathyroid gland. Genetic workup was negative for RET proto-oncogene mutations but positive for a heterozygous variant in the TMEM127 tumor suppressor gene.
CASE DISCUSSION: MEN2A is associated with pathogenic germline variants in the RET proto-oncogene in approximately 95-99% of cases. Our patient, however, exhibited a MEN2A-like clinical phenotype in the absence of an identifiable RET mutation, with a pathogenic TMEM127 variant instead. Although TMEM127 is an established susceptibility gene for pheochromocytoma and paraganglioma, its association with the broader MEN2A phenotype remains unclear. This unusual genotype-phenotype discordance raises important questions regarding the potential role of alternative genetic pathways in MEN2-like syndromes and creates uncertainty regarding postoperative surveillance and the appropriate extent of screening and genetic counseling for family members.
CONCLUSION: Our case represents an unusual scenario where the patient presents with a clinical phenotype of MEN2A but is RET negative and positive heterozygous for a variant in the TMEM127. This atypical genetic finding introduces complexities in determining the appropriate follow-up protocol and the scope of familial screening necessary.