A Silent Corticotroph Pituitary Carcinoma: Lessons From an Exceptional Case Report.

Nowadays, neither imaging nor pathology evaluation can accurately predict the aggressiveness or treatment resistance of pituitary tumors at diagnosis. However, histological examination can provide useful information that might alert clinicians about the nature of pituitary tumors. Here, we describe our experience with a silent corticothoph tumor with unusual pathology, aggressive local invasion and metastatic dissemination during follow-up. We present a 61-year-old man with third cranial nerve palsy at presentation due to invasive pituitary tumor. Subtotal surgical approach was performed with a diagnosis of silent corticotroph tumor but with unusual histological features (nuclear atypia, frequent multinucleation and mitotic figures, and Ki-67 labeling index up to 70%). After a rapid regrowth, a second surgical intervention achieved successful debulking. Temozolomide treatment followed by stereotactic fractionated radiotherapy associated with temozolomide successfully managed the primary tumor. However, sacral metastasis showed up 6 months after radiotherapy treatment. Due to aggressive distant behavior, a carboplatine-etoposide scheme was decided but the patient died of urinary sepsis 31 months after the first symptoms. Our case report shows how the presentation of a pituitary tumor with aggressive features should raise a suspicion of malignancy and the need of follow up by multidisciplinary team with experience in its management. Metastases may occur even if the primary tumor is well controlled.

Diabetes mellitus tipo 2 descompensada y disfunción renal en paciente con trasplante cardiaco en tratamiento inmunosupresor / Uncontrolled type 2 diabetes mellitus and renal impairment in a patient with heart transplant and immunosuppressive therapy

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Utilidad del estudio genético en la hipercalcemia hipocalciúrica familiar en familias con presentaciones clínicas atípicas / Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation

Tradicionalmente se ha pensado que las pruebas bioquímicas del metabolismo fosfocálcico permiten diferenciar el hiperparatiroidismo primario (HPT1) y la hipercalcemia hipocalciúrica familiar (HHF) pero hay casos de difícil diagnóstico incluso para clínicos experimentados. Nos planteamos como objetivo evaluar la validez de las pruebas diagnósticas de la HHF así como la correcta indicación del estudio genético. Pacientes y métodos Hemos realizado un estudio descriptivo de 2 familias con hipercalcemia y sospecha de HHF de características atípicas. En orina de 24h hemos valorado los índices de excreción urinaria de calcio (eliminación de calcio [CE], cociente calcio/creatinina [CR] y cociente aclaramiento de calcio/aclaramiento de creatinina [CCCR]), junto con las concentraciones séricas de PTH y 25 hidroxivitamina D. A los casos índices se les realizó el estudio genético. Resultados Una paciente presentó hipercalciuria franca y persistente con valores más concordantes con HPT1 que de HHF si consideramos, como proponen las guías, un CCCR inferior a 0,01 como indicativo de HHF y superior a 0,02 como HPT1. Al caso índice de la segunda familia se le extirpó un adenoma de paratiroides. En ambos casos índice, encontramos la misma mutación c. 164C>T (p.Pro55Leu) en el exón 2 en heterocigosis descrita como responsable de HHF. Conclusiones El diagnóstico definitivo de HHF en las guías clínicas actuales requiere confirmación genética, lo cual ha permitido en nuestro caso la detección de 2 familias con HHF y características clínicas atípicas. En nuestra opinión el uso racional de estas pruebas ante la sospecha de HFF puede evitar intervenciones quirúrgicas innecesarias y gastos excesivos en su monitorización (AU)

Objectives: Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances in which genetic studies are required. Patients and methods: A descriptive study was conducted of two families with hypercalcemia and suspected atypical FHH. Urinary calcium excretion was measured in 24-hour urine using different tests (calcium excretion (CE), urinary calcium/creatinine clearance ratio (UCCR)),and serum PTH and 25-hydroxyvitamin D levels were tested. Index cases underwent genetic study. Results: One patient from the first family showed overt, persistent hypercalciuria with values more consistent with PHPT than with FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index case of the second family underwent surgery for a parathyroid adenoma. Both cases had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. Conclusions: According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypicalclinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs (AU)

[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation]. / Utilidad del estudio genético en la hipercalcemia hipocalciúrica familiar en familias con presentaciones clínicas atípicas.

OBJECTIVES: Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances in which genetic studies are required. PATIENTS AND METHODS: A descriptive study was conducted of two families with hypercalcemia and suspected atypical FHH. Urinary calcium excretion was measured in 24-hour urine using different tests (calcium excretion (CE), urinary calcium/creatinine clearance ratio (UCCR)), and serum PTH and 25-hydroxyvitamin D levels were tested. Index cases underwent genetic study. RESULTS: One patient from the first family showed overt, persistent hypercalciuria with values more consistent with PHPT than with FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index case of the second family underwent surgery for a parathyroid adenoma. Both cases had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. CONCLUSIONS: According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypical clinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs.