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Pituitary apoplexy as presentation of atypical teratoid/rhabdoid tumor in an adult
Apoplejía hipofisaria como forma de presentación de un tumor teratoide/rabdoide atípico en el adulto
Laura Larrán-Escandóna,
Corresponding author
laura.larran@hotmail.com

Corresponding author.
, Isabel Mateo-Gaviraa, Francisco Javier Vilchez-Lópeza, Efraim Gómez Cárdenasb, Manuel Aguilar Diosdadoa
a Departamento de Endocrinología y Nutrición, Hospital Universitario Puerta del Mar, Cádiz, Spain
b Departamento de Neurociencia, Hospital Universitario Puerta del Mar, Cádiz, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Although pituitary apoplexy usually occurs in a pituitary adenoma&#44; it may also occur in other less common types of tumors&#46; The atypical teratoid&#47;rhabdoid tumor &#40;ATRT&#41; is a very aggressive malignant tumor of the central nervous system usually occurring in children under three years of age and has a poor prognosis despite chemotherapy and&#47;or radiotherapy&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">We report the case of a 43-year-old female patient admitted to hospital for suspected pituitary apoplexy due to pituitary macroadenoma&#46; She complained of headaches over the previous three months&#46; In the two weeks prior to admission&#44; the patient progressively experienced malaise&#44; vomiting&#44; lower limb weakness&#44; diplopia and&#44; finally&#44; eyelid ptosis&#46; There were no clinical signs suggesting hormone dysfunction&#44; urinary frequency&#44; or polydipsia&#44; and her menstrual cycles were maintained&#46; A physical examination showed an acceptable general condition with a score of 15 on the Glasgow scale&#46; The patient had normal blood pressure and no fever or signs of hypercorticism or acromegaly&#46; Paresis of the third left cranial nerve was found&#46; Supplemental tests revealed severe hyponatremia &#40;123<span class="elsevierStyleHsp" style=""></span>mmol&#47;L&#41;&#46; CT of the brain and pituitary MRI&#58; 20<span class="elsevierStyleHsp" style=""></span>&#215;<span class="elsevierStyleHsp" style=""></span>23<span class="elsevierStyleHsp" style=""></span>mm sellar tumor with suprasellar growth&#44; consistent with an invasive pituitary adenoma with subacute bleeding&#46; Campimetry&#58; superior and inferior nasal and temporal field involvement&#44; especially marked in the left eye&#46; A hormone profile was consistent with partial hypopituitarism&#58; prolactin 625&#46;9<span class="elsevierStyleHsp" style=""></span>&#956;IU&#47;mL &#40;normal&#58; 102&#8211;496&#41;&#59; basal cortisol&#58; 6&#46;12<span class="elsevierStyleHsp" style=""></span>&#956;g&#47;dL &#40;normal&#58; 6&#46;2&#8211;19&#46;4&#41;&#59; TSH 0&#46;29<span class="elsevierStyleHsp" style=""></span>&#956;IU&#47;mL &#40;normal&#58; 0&#46;27&#8211;4&#46;2&#41;&#59; FT4&#58; 0&#46;74<span class="elsevierStyleHsp" style=""></span>ng&#47;dL &#40;normal&#58; 0&#46;93&#8211;1&#46;7&#41;&#59; FSH&#58; 3&#46;9<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#40;normal&#58; 3&#46;54&#8211;12&#46;5&#41;&#59; LH 0&#46;3<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#40;normal&#58; 2&#46;4&#8211;12&#46;6&#41;&#59; HGH 0&#46;45<span class="elsevierStyleHsp" style=""></span>ng&#47;mL &#40;normal&#58; 0&#8211;7&#41;&#44; and IGF-1 67<span class="elsevierStyleHsp" style=""></span>ng&#47;mL &#40;normal&#58; 100&#8211;310&#41;&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Ten days after admission&#44; partial tumor resection was performed using a transsphenoidal approach&#46; Over the following days&#44; the headaches persisted and the patient experienced fluctuations in consciousness&#46; A CT scan of the head with no contrast&#44; performed five days after surgery&#44; showed a slightly hyperdense image as compared to the brain parenchyma&#44; homogeneous and rounded and related to the already known pituitary lesion&#44; despite surgery&#46; Rapid clinical progression occurred&#44; with the development of sphincter incontinence and complete bilateral amaurosis&#46; While waiting for the histological results and because of a suspected actively growing malignant tumor&#44; radiotherapeutic oncology was consulted to assess treatment&#46; A CT scan performed before the start of radiotherapy &#40;20 days after surgery&#41; showed a big sellar isodense tumor&#44; 7&#46;2<span class="elsevierStyleHsp" style=""></span>cm in size that had infiltrated the sellar region and right cavernous&#44; frontal and right temporal sinuses with a mass effect&#44; strongly enhanced with intravenous contrast &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; The final pathological report confirmed the suspected malignancy&#58; ATRT grade IV of the WHO&#46; Measurement of integrase interactor 1 &#40;INI1&#41;&#44; a marker whose absence in tumor cell nuclei establishes the final diagnosis of ATRT&#44; was negative twice&#46; Because of rapid disease progression&#44; a conservative approach was adopted&#46; Only palliative measures and replacement therapy with glucocorticoids and thyroxine for persistent hypopituitarism were used&#46; Finally&#44; the patient died 35 days after admission&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Pituitary apoplexy is defined as an ischemic or hemorrhagic event usually occurring in a pituitary adenoma&#44; although it may also occur in other types of tumor and even in a normal pituitary gland&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> In our patient&#44; the clinical presentation was highly suggestive&#44; and initial imaging tests showed a tumor consistent with pituitary adenoma&#44; the pituitary lesion most common in adults&#46; However&#44; the unfavorable and rapidly progressive course suggested a malignant condition&#44; finally diagnosed as ATRT&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">ATRT of the central nervous system usually affects young children&#44; and 94&#37; of the patients reported have been younger than 5 years&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">2&#44;3</span></a> Radiographic characteristics are not specific of this type of tumor&#46; Histolologically&#44; ATRT consists of rhabdoid cells&#44; alone or combined with indistinguishable areas of primitive neuroectodermal tumor &#40;PNET&#41; and&#47;or with a mesenchymal and&#47;or epithelial component&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">4&#44;5</span></a> ATRT is the only tumor of the central nervous system in which a pathognomonic change has been found in a suppressor gene&#44; INI1&#47;hSNF5&#46; The loss of INI1 expression is considered diagnostic of ATRT&#44; and adequate immunohistochemical assessment is therefore essential in order to evaluate this tumor variant&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Treatment protocols for adults have been extrapolated from the pediatric literature&#44; and aggressive surgical resection followed by multidisciplinary treatment is indicated&#46; In adults&#44; craniospinal radiotherapy is a standard treatment&#44; associated with different chemotherapy regimens&#44; although this is not well defined for adults&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">ATRT is characterized by aggressive behavior in the majority of children&#44; who usually die within seven months of diagnosis despite intensive treatment&#46; In the literature review performed in adults&#44; only nine cases have occurred in the sellar or suprasellar region&#46; Survival is variable in the different cases reported in the literature&#44; with a mean of 26 months &#40;range&#44; 2 weeks&#47;17 years&#41;<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">3&#44;6&#44;7</span></a>&#59; in the reported case&#44; the course was fulminant&#44; as the patient died only 35 days after diagnosis&#44; and the form of presentation was the most aggressive and most rapidly progressive among all the tumors occurring in the sella turcica&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">8&#44;9</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">In conclusion&#44; it should be borne in mind that pituitary apoplexy commonly occurs in pituitary adenomas&#44; although other primary tumors affecting the sella turcica should always be taken into consideration&#46; ATRT is a tumor of the central nervous system which is exceptional in adults and in a pituitary location&#44; which may make diagnosis difficult&#46; Diagnosis requires adequate immunohistochemical assessment&#44; because the loss of INI1 expression is pathognomonic of this type of tumor&#46; Because of the low incidence of ATRT&#44; there are no specific therapeutic management protocols for the adult population&#44; and the tumor is associated with a gloomy prognosis within a variable time period&#46; The case reported demonstrates the rapid progression of the disease&#44; and is one of the cases of ATRT in adults with the most aggressive behavior and shortest survival time among the diagnoses reported to date in the literature&#46;</p></span>"
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