A Case of Pituitary Germinoma Misdiagnosed as Lymphocytic Hypophysitis

Ghorbani, Mohammad; Moradi, Mahnaz; Khamseh, Mohammad E.; Malek, Mojtaba; Emami, Zahra; Gohari-moghadam, Katayon; Ghavamipour, Mehrnaz; Madani, Nahid Hashemi

doi:10.14740/jem530w

Cited by 3 publications

(2 citation statements)

References 28 publications

(51 reference statements)

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“…Definite diagnosis in such cases requires histopathological confirmation. Serum and CSF markers like AFP and human chorionic gonadotrophin (hCG) can also help to differentiate the germinomatous and nongerminomatous tumors as pure germinomas are usually nonsecretory while nongerminomatous tumors present with elevated tumor markers [ 12 ]. Other than pituitary macroadenoma, an important differential diagnosis is lymphocytic hypophysitis, which also presents with stalk thickening and diabetes insipidus.…”

Section: Discussionmentioning

confidence: 99%

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A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma

Ram

Batool

Mushtaq

2020

Cureus

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Intracranial germ cell tumors (GCTs) account for 3%-5% of all intracranial tumors. They commonly manifest during first two decades of life. We are reporting a case of a young female, who presented with progressive visual loss, polyuria and polydipsia, harboring an intracranial GCT. She presented initially to a neurosurgery clinic and then to an endocrine clinic, with a history of chronic worsening headache and recent onset visual blurring along with polyuria with polydipsia. On further inquiry, she was found to have primary amenorrhea, easy fatigability, and failure of development of secondary sexual characteristics. On examination the patient had bitemporal hemianopia with breast development at tanner stage II and pubic and axillary hair at tanner stage I. Her initial hormonal workup was suggestive of panhypopituitarism with diabetes insipidus. MRI pituitary showed a sellar mass with suprasellar extension, so an initial impression of a pituitary macroadenoma was made and the patient underwent trans-sphenoidal surgery. The histopathology was suggestive of lymphoid hyperplasia. Follow up MRI showed significant residual tumor and her vision and pituitary function did not recover. Neurosurgery was planned as second surgery, but we requested a second opinion of histopathology report and it was suggestive of a germinoma. She was then started on chemotherapy followed by radiotherapy, after which her tumor size reduced significantly, though she still required pituitary hormone replacement therapy. Pituitary stalk lesions are rare and their diagnosis is challenging as different etiologies present clinically and radiologically in a similar manner with tissue diagnosis being the gold standard. Germinoma is a radiosensitive tumor. In our patient it took a long time to reach the correct diagnosis and late diagnosis resulted in permanent visual field defect and panhypopituitarism. This case report emphasizes that we should guide and educate our patients to seek medical advice early in the course of disease. We should also keep differential diagnosis in mind before referring the patient for surgery.

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Section: Discussionmentioning

confidence: 99%

“…The absence of pituitary adenoma on the biopsy prompts us to look for other differential diagnosis. There are case reports in which the germinomas were initially misdiagnosed as lymphocytic hypophysitis [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma

Ram

Batool

Mushtaq

2020

Cureus

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Pituitary germinomas: a multi-institutional study analyzing patient demographics and management patterns

et al. 2020

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Intracranial Germinoma Masquerading as Secondary Granulomatous Hypophysitis: A Case Report and Review of Literature

et al. 2019

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Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. She had central diabetes insipidus (CDI) and panhypopituitarism. Imaging revealed a sellar-suprasellar mass with infundibular stalk thickening. Transphenoidal biopsy revealed epithelioid granulomas with immunostaining negative for germinomatous cells. Other causes of hypophysitis were ruled out. Accordingly, she was diagnosed as primary granulomatous hypophysitis and treated with high-dose corticosteroids. Three years later she again presented with headache, vomiting and diminution of vision. Imaging showed a heterogeneous, solid-cystic peripheral rim-enhancing lesion at the same location with involvement of hypothalamus, ependyma and pineal gland. Cerebrospinal fluid beta-human chorionic gonadotropin was markedly elevated, confirming the diagnosis of an intracranial germ cell tumor. She was started on chemotherapy; however, she succumbed to febrile neutropenia. We performed a literature search and found 18 anecdotal cases of secondary hypophysitis associated with intracranial germinomas. There was a slight male preponderance (male:female 5:4). Two-thirds of the cases were below 18 years of age. Polyuria was the most common presenting manifestation (83%). CDI and panhypopituitarism were seen in 89 and 78% cases, respectively. Imaging evidence of pituitary stalk thickening was seen in 12 cases (67%), while pituitary enlargement and/or sellar mass were reported in 11 cases (61%). Pineal involvement was extremely rare, being reported in only 1 case, implying the predilection of suprasellar (rather than pineal) germinomas in causing secondary hypophysitis. Histologically, 82% had lymphocytic hypophysitis, while 18% had granulomatous hypophysitis. Initially, the diagnosis of germinoma was missed in 60% of the cases who were wrongly treated with corticosteroids. To conclude, physicians should make it a dictum that all children and adolescents presenting with CDI and pituitary stalk thickening should be rigorously screened for an underlying intracranial germinoma before labeling them as primary hypophysitis.

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A Case of Pituitary Germinoma Misdiagnosed as Lymphocytic Hypophysitis

Cited by 3 publications

References 28 publications

A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma

A Case Report Emphasizing the Importance of Early Diagnosis and Management of Intracranial Germinoma

Pituitary germinomas: a multi-institutional study analyzing patient demographics and management patterns

Intracranial Germinoma Masquerading as Secondary Granulomatous Hypophysitis: A Case Report and Review of Literature

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