Possible Unclassified MDS?

[xya319]

Hello!
I am hoping to get some answers in regards to my daughters condition. My daughter was previously diagnosed with neutropenia. Her WBC have never been in a safe range. Her health otherwise is okay but her BMB gave me some major concerns. Below are the results:

Clinical History
Neutropenia.

Final Pathologic Diagnosis
Bone marrow, core biopsy, clot preparation, and aspirate, right
posterior iliac crest:
-- Mildly hypocellular bone marrow with trilineage hematopoiesis,
negative for dysplasia.
-- See Description and Comment.
Peripheral blood, phlebotomy:
-- Leukopenia with absolute neutropenia.
-- Negative for blasts.

Diagnosis Comment
The main finding in this bone marrow is hypocellularity for age, with
progressive maturation through the neutrophil phase of the granulocyte
series. Both increased peripheral consumption and ineffective
granulopoiesis are etiologic considerations. Cytogenetics are in
progress to further assess for a primary myelodysplastic syndrome. The
results will be reported in an addendum.


"Karyotype: 46,XX[20]
Interpretation: normal female karyotype."


Microscopic Description
Peripheral Blood Smear
On the Wright stained peripheral blood smear, there is a mild-moderate
leukopenia (WBC = 2.1 K/uL) with an absolute neutropenia (32%, 0.7
K/uL). The neutrophils that are present are normally lobated and
normally granulated (negative for dysplasia). The predominant cell
type is lymphoid, and the lymphocytes have a spectrum of cell sizes
from small and re
sting to intermediate sized and activated.
Circulating blasts are not identified, nor are basophils or
significant numbers of eosinophils. The red cell series is
morphologically normal, and normal by indices (hemoglobin = 12.8 g/dL,
MCV = 84 fL, RDW = 12.8%). Platelets are present in normal number by
visual estimate, concordant with the automated count of 242 k/uL.
Bone Marrow Aspirate Smears
On the Wright stained bone marrow aspirate smears, there is maturing
trilineage hematopoiesis in a neutrophil phase and the neutrophils are
normally lobated and normal granulated. The myeloid precursors exhibit
progressive maturation, without disproportionate increase in blasts
(on a targeted 200 cell differential, blasts = 1.75%). The red cell
series matures fully, and is free of overt dysplasia. Megakaryocytes
are present in normal number, and they have a normal nuclear lobation
pattern. Scattered lymphocytes and plasma cells are noted, though
neither represents more than 5% of th
e total cellularity.
Bone Marrow Core Biopsy and Clot Preparation
The core is cellular (50%, decreased for age), and contains maturing
trilineage hematopoiesis in normal proportion (M:E ratio = 2-4:1).
The myeloid series matures through the neutrophil stage, and there is
a normal localization of precursors. The erythroid series matures
fully, and is free of overt dysplasia. Megakaryocytes are present in
normal number, and they have a normal distribution within the
interstitium. Scattered lymphocytes are present within the
interstitium, but there are no suspicious lymphoid aggregates, nor are
there are granulomas. The clot preparation represents clotted blood,
with no entrapped marrow particles.


My main concern is the hypocellular bone marrow. She is only 12 years old. It looks as if they were checking for MDS but do to her karyotype being okay, that was off the table.
Is it possible to have MDS with a normal karyotype? Are her results considered normal? I really want them to push for further assessment of unclassified MDS. I would hate for us to find out something years down the road. We are looking at having another BMB in a few months.

[Hopeful]

Hi xya319,

I am not a doctor nor in the medical field. However, if her cytogenetics come back normal, there is nothing that in her BMB report that is indicative of MDS to me.

She does have neutropenia and a mildly hypocellular marrow.

If her neutropenia continues or worsens, they will likely recheck her marrow for other possible causes.

[xya319]

Originally Posted by Hopeful

Hi xya319,

I am not a doctor nor in the medical field. However, if her cytogenetics come back normal, there is nothing that in her BMB report that is indicative of MDS to me.

She does have neutropenia and a mildly hypocellular marrow.

If her neutropenia continues or worsens, they will likely recheck her marrow for other possible causes.

Thank you for responding! It is hard not knowing what is causing her neutropenia. I have read on various forums where individuals had neutropenia for several years and then later on down the road found out that it was MDS or something else.

[lizab]

I completely understand your concern. My son, who is now 17 has has hypocellular bone marrow (30%) since the age of 14. He has had a history of neutropenia, low RBC, and low iron stores. He has had 8 bone marrow biopsies which show nothing thus far (other than hypocellular marrow). We live in Ohio and his hematologist are at Nationwide Childrens Hospital. We have traveled to NIH and will be traveling to Boston Childrens Hospital next week to see a Doctor that specializes in bone marrow failure.

I have been searching for someone with a similar situation. My son is, for the most part, a healthy thriving teenage boy. This is puzzling to many doctors he has seen thus far.

He is under close watch because his father had leukemia and his brother has non-Hodgkins lymphoma.

Please let me know if there is any specific questions you may have. Prayers to you and your daughter.

[xya319]

Originally Posted by lizab

I completely understand your concern. My son, who is now 17 has has hypocellular bone marrow (30%) since the age of 14. He has had a history of neutropenia, low RBC, and low iron stores. He has had 8 bone marrow biopsies which show nothing thus far (other than hypocellular marrow). We live in Ohio and his hematologist are at Nationwide Childrens Hospital. We have traveled to NIH and will be traveling to Boston Childrens Hospital next week to see a Doctor that specializes in bone marrow failure.

I have been searching for someone with a similar situation. My son is, for the most part, a healthy thriving teenage boy. This is puzzling to many doctors he has seen thus far.

He is under close watch because his father had leukemia and his brother has non-Hodgkins lymphoma.

Please let me know if there is any specific questions you may have. Prayers to you and your daughter.

Thank you for responding! I have not encountered another parent with a teenager with this type of condition.
Like your son, my daughter is mostly a healthy teenager. Very active. The only issues we face are reoccurring mouth sores and most recently nosebleeds and pain in both of her hips. There is no history of lymphoma or leukemia; however, my mother died suddenly at 48 and we do not know why (no autopsy).
Her RBC and platelets have been normal but her WBC have been consistently low. I've been trying to do research on my own and the one thing that has stuck out to me is MDS due to her hypocellular bone marrow. We live in Florida and she is being seen at Nemours.
Did his RBC and iron drop over a period of time or was that found with his neutropenia?
Prayers to you and your son as well! Not knowing what is causing this or waiting for answers is the hardest part. I've been checking this board daily and I'm glad to have found you.

[lizab]

I also have searched and searched for three years now for someone with a similar situation. I am so glad to have found you as well although I'm so sorry your daughter is going through this.

My son also has hip pain. He has also had an incident of a bad mouth sore but that was one time. Through all of my reasearch and many travels to doctors, I also only come up with MDS. The doctors that we have spoken with (NIH, Nationwide Childrens, and Akron Childrens) have also said they think it's a MDS that hasn't came fully to surface yet.

He stared out with a couple very large lymph nodes in his inguinal area that resolved on their own. That is when blood work was ordered and his low blood counts were discovered. Months of repeat labs with no change prompted his hematologist to do a bone marrow biopsy and that is when the hypocellular bone marrow was discovered.

His WBC was, at first, of concern because it was pretty low. He also had low NK function (from my understanding that is a cancer fighting wbc). His RBC has always been low but I really do think recall them mentioning his iron being low at first. When it was discovered they started him on oral iron which didn't work so he has to have iron infusions every few months. Now his WBC is low but mildly low. Like you my biggest concern is his hypocellular marrow. It is currently at 30%.

To look at him you would never know anything was wrong. He is also healthy and very active and growing normally.

We are traveling to Boston Dana Farber Childrens Hospital next week to see a Doctor that specializes in bone marrow failure. I will let you know what the outcome of that appointment is.

Our children's stories are very simular and I hope we are able to help each other in so.excited way.

Prayers to you and your daughter.

[xya319]

Well we went to her hematologist today and he's requesting another BMB. This time in both hips. He is concerned about MDS and will be completing an MDS panel and gene sequencing panel. He thought it may have been ethnic benign neutropenia but she's had frequent mouth sores which shouldn't happen with that form of neutropenia.

He's also doing both hips due to her hypocellular marrow which is at 50%. He wants to complete the procedure as soon as possible so we have it scheduled for 11/2. I will keep you posted! Praying for you and your son as well. I'm hoping that we both can have answers very soon.

[lizab]

My son had his appointment in Boston yesterday. We met with a bone marrow specialist and an oncologist. Since my son has had no blasts, normal FISH studies, and nothing that stands out on his genetic panel for MDS, they feel that we should back off of the testing. The doctor explanned that she has followed children with hypocellular marrow for many years with no changes and they were able to live a very normal life.

They did repeat the bone marrow failure genetic panel and are doing a more extensive blood cancer genetic panel and many other test.

She also said his peripheral blood counts aren't too bad, Actually good considering what his marrow cellularity is so she wouldn't treat him for MDS if his blood showed he had that because he is doing so well.

I have mixed emotions on our visit to Boston Childrens. I am more confused now than ever!! I have been told by so many other doctors, even by the physicians at the NIH, to keep a close watch.....and then they say back off.

I was hoping for some answers but that didn't happen...looks like continued worrying for me.

I hope you get so.excited answers with your daughters next biopsy.

[xya319]

I am shocked that she told you that. So sorry.
Even with my experience, I have been told to keep a close watch and to repeat labs whether its biweekly or monthly. I too would have mixed emotions. Any parent would want to know what is going on with their child. Especially when you are dealing with something unknown and you don't know what is causing it or if it could worsen.
They initially wanted to postpone her biopsy but have since decided to keep the same appointment. I will keep you posted on the procedure and results.

[GoodDay5150]

It has been a long since I have had any BMB'S, and I do not have any copies of the reports w/ me to compare w/ these results. I had classic PNH, and I was diagnosed much later in life; when I was in my early 40's. As far as MDS goes, that is much more common in older people than in young people. As far as a diagnosis is concerned, I guess that I was lucky to have been diagnosed very quickly and that there was no conflict among my medical staff as to the best treatment for me. Being diagnosed quickly and accurately is important so as to determine the best treatment going forward.

Mario